Incidental Mutation 'FR4737:Kmt2b'
ID 511654
Institutional Source Beutler Lab
Gene Symbol Kmt2b
Ensembl Gene ENSMUSG00000006307
Gene Name lysine (K)-specific methyltransferase 2B
Synonyms 2610014H22Rik, Mll2, Wbp7
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # FR4737 ()
Quality Score 217.468
Status Not validated
Chromosome 7
Chromosomal Location 30268283-30288151 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) CCTCCT to CCTCCTTCTCCT at 30285792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000006470] [ENSMUST00000108150] [ENSMUST00000108151] [ENSMUST00000108154]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006470
SMART Domains Protein: ENSMUSP00000006470
Gene: ENSMUSG00000006307

DomainStartEndE-ValueType
AT_hook 18 30 2.82e2 SMART
low complexity region 66 106 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
AT_hook 149 159 2.4e2 SMART
AT_hook 218 230 1.95e2 SMART
low complexity region 249 263 N/A INTRINSIC
low complexity region 272 302 N/A INTRINSIC
coiled coil region 353 413 N/A INTRINSIC
AT_hook 476 488 5.47e-1 SMART
low complexity region 501 517 N/A INTRINSIC
low complexity region 578 606 N/A INTRINSIC
low complexity region 621 657 N/A INTRINSIC
low complexity region 673 700 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
low complexity region 738 777 N/A INTRINSIC
low complexity region 910 922 N/A INTRINSIC
Pfam:zf-CXXC 963 1010 7.2e-15 PFAM
low complexity region 1039 1061 N/A INTRINSIC
low complexity region 1103 1115 N/A INTRINSIC
PHD 1209 1256 1.25e-5 SMART
PHD 1257 1307 5.4e-10 SMART
PHD 1343 1400 1.27e-6 SMART
low complexity region 1415 1427 N/A INTRINSIC
PHD 1646 1692 3.82e-1 SMART
FYRN 1745 1788 3.25e-19 SMART
low complexity region 1881 1899 N/A INTRINSIC
low complexity region 1912 1942 N/A INTRINSIC
low complexity region 1961 1978 N/A INTRINSIC
low complexity region 1991 2003 N/A INTRINSIC
low complexity region 2013 2026 N/A INTRINSIC
low complexity region 2048 2061 N/A INTRINSIC
low complexity region 2087 2105 N/A INTRINSIC
low complexity region 2127 2138 N/A INTRINSIC
low complexity region 2215 2235 N/A INTRINSIC
low complexity region 2239 2270 N/A INTRINSIC
low complexity region 2396 2406 N/A INTRINSIC
FYRC 2419 2504 4.83e-36 SMART
SET 2581 2703 1.67e-42 SMART
PostSET 2705 2721 4.65e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108150
SMART Domains Protein: ENSMUSP00000103785
Gene: ENSMUSG00000006310

DomainStartEndE-ValueType
ZnF_C2H2 14 36 1.67e-2 SMART
ZnF_C2H2 41 63 2.4e-3 SMART
low complexity region 81 101 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108151
SMART Domains Protein: ENSMUSP00000103786
Gene: ENSMUSG00000006310

DomainStartEndE-ValueType
BTB 29 117 1.67e-8 SMART
low complexity region 207 222 N/A INTRINSIC
ZnF_C2H2 350 372 1.28e-3 SMART
ZnF_C2H2 378 400 1.67e-2 SMART
ZnF_C2H2 405 427 2.4e-3 SMART
low complexity region 445 465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108154
SMART Domains Protein: ENSMUSP00000103789
Gene: ENSMUSG00000006307

DomainStartEndE-ValueType
AT_hook 18 30 2.82e2 SMART
low complexity region 66 106 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
AT_hook 149 159 2.4e2 SMART
AT_hook 218 230 1.95e2 SMART
low complexity region 249 263 N/A INTRINSIC
low complexity region 272 302 N/A INTRINSIC
coiled coil region 353 413 N/A INTRINSIC
AT_hook 476 488 5.47e-1 SMART
low complexity region 501 517 N/A INTRINSIC
low complexity region 578 606 N/A INTRINSIC
low complexity region 621 657 N/A INTRINSIC
low complexity region 673 700 N/A INTRINSIC
low complexity region 715 728 N/A INTRINSIC
low complexity region 738 777 N/A INTRINSIC
low complexity region 910 922 N/A INTRINSIC
Pfam:zf-CXXC 963 1010 1e-14 PFAM
low complexity region 1039 1061 N/A INTRINSIC
low complexity region 1103 1115 N/A INTRINSIC
PHD 1209 1256 1.25e-5 SMART
PHD 1257 1307 5.4e-10 SMART
PHD 1343 1400 1.27e-6 SMART
low complexity region 1415 1427 N/A INTRINSIC
PHD 1646 1692 3.82e-1 SMART
FYRN 1745 1788 3.25e-19 SMART
low complexity region 1872 1890 N/A INTRINSIC
low complexity region 1903 1933 N/A INTRINSIC
low complexity region 1952 1969 N/A INTRINSIC
low complexity region 1982 1994 N/A INTRINSIC
low complexity region 2004 2017 N/A INTRINSIC
low complexity region 2039 2052 N/A INTRINSIC
low complexity region 2078 2096 N/A INTRINSIC
low complexity region 2118 2129 N/A INTRINSIC
low complexity region 2206 2226 N/A INTRINSIC
low complexity region 2230 2261 N/A INTRINSIC
low complexity region 2383 2398 N/A INTRINSIC
FYRC 2411 2496 4.83e-36 SMART
SET 2573 2695 1.67e-42 SMART
PostSET 2697 2713 4.65e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125372
Predicted Effect probably benign
Transcript: ENSMUST00000131002
SMART Domains Protein: ENSMUSP00000118486
Gene: ENSMUSG00000006307

DomainStartEndE-ValueType
low complexity region 7 20 N/A INTRINSIC
low complexity region 30 69 N/A INTRINSIC
low complexity region 202 214 N/A INTRINSIC
Pfam:zf-CXXC 255 302 5.2e-15 PFAM
low complexity region 331 353 N/A INTRINSIC
low complexity region 395 407 N/A INTRINSIC
PHD 501 548 1.25e-5 SMART
PHD 549 599 5.4e-10 SMART
PHD 635 692 1.27e-6 SMART
low complexity region 707 719 N/A INTRINSIC
PHD 938 984 3.82e-1 SMART
FYRN 1037 1080 3.25e-19 SMART
low complexity region 1173 1191 N/A INTRINSIC
low complexity region 1204 1234 N/A INTRINSIC
low complexity region 1253 1270 N/A INTRINSIC
low complexity region 1283 1295 N/A INTRINSIC
low complexity region 1305 1318 N/A INTRINSIC
low complexity region 1340 1353 N/A INTRINSIC
low complexity region 1379 1397 N/A INTRINSIC
low complexity region 1419 1430 N/A INTRINSIC
low complexity region 1507 1527 N/A INTRINSIC
low complexity region 1531 1562 N/A INTRINSIC
low complexity region 1684 1699 N/A INTRINSIC
FYRC 1712 1797 4.83e-36 SMART
SET 1874 1996 1.67e-42 SMART
PostSET 1998 2014 4.65e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185080
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.8%
  • 20x: 97.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this gene leads to embryonic growth retardation, abnormal somite development, neural tube defects, increased apoptosis, and complete embryonic lethality. Homozygotes for a hypomorphic allele show embryonic growth arrest, altered DNA methylation, and reduced female fertility. [provided by MGI curators]
Allele List at MGI

 All alleles(8) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(4)

Other mutations in this stock
Total: 208 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik TCT TCTCCT 12: 110,634,882 (GRCm39) probably benign Het
A630001G21Rik CTGTT CT 1: 85,650,856 (GRCm39) probably benign Homo
Abcb11 C A 2: 69,073,862 (GRCm39) R1221L probably damaging Homo
Abcb4 GAAA G 5: 8,946,597 (GRCm39) probably benign Homo
Ahdc1 CT CTCGT 4: 132,790,070 (GRCm39) probably benign Homo
Alpk3 TCT TCTACT 7: 80,727,510 (GRCm39) probably benign Het
Amfr C G 8: 94,731,787 (GRCm39) G30R probably damaging Homo
Ankrd35 GC GCTAC 3: 96,591,165 (GRCm39) probably benign Homo
Anxa7 C T 14: 20,519,479 (GRCm39) G113E probably damaging Homo
Apc CAATAAAGC CAATAAAGCTAATAAAGC 18: 34,415,052 (GRCm39) probably benign Homo
Apol6 GTTT GTTTCTTT 15: 76,935,642 (GRCm39) probably null Homo
Arpc1b GGTGGC GGTGGCGTGGC 5: 145,063,597 (GRCm39) probably null Het
AY358078 C T 14: 52,043,155 (GRCm39) S281L unknown Homo
Blm ACCTGC ACCTGCCTGC 7: 80,113,519 (GRCm39) probably null Het
Blm T TACCA 7: 80,113,522 (GRCm39) probably null Het
Bltp1 TTATTAT TTATTATTATTATTACTATTAT 3: 37,104,903 (GRCm39) probably benign Het
Blzf1 TTGT TT 1: 164,131,486 (GRCm39) probably null Homo
Btnl10 A AAGG 11: 58,814,757 (GRCm39) probably benign Homo
Cacna1a ACC ACCGCC 8: 85,365,349 (GRCm39) probably benign Het
Cacna1a ACC ACCCCC 8: 85,365,355 (GRCm39) probably benign Homo
Catsper2 TTC TTCTTTTACTTTGTC 2: 121,228,021 (GRCm39) probably benign Homo
Ccdc170 ACC ACCTCC 10: 4,511,023 (GRCm39) probably benign Het
Ccdc170 AC ACCCC 10: 4,511,029 (GRCm39) probably benign Het
Ccdc73 TAAG T 2: 104,822,185 (GRCm39) probably benign Homo
Ccnk TTCCCAC T 12: 108,168,766 (GRCm39) probably benign Het
Cdan1 A C 2: 120,555,452 (GRCm39) V763G probably damaging Het
Cdk6 A G 5: 3,394,211 (GRCm39) probably benign Het
Cdx1 TGCTGC TGCTGCCGCTGC 18: 61,152,946 (GRCm39) probably benign Het
Cdx1 GCTGCT GCTGCTTCTGCT 18: 61,152,950 (GRCm39) probably benign Het
Cfap46 CCTTCT CCTTCTTCT 7: 139,218,846 (GRCm39) probably benign Homo
Chd4 GC GCTCCCCC 6: 125,099,094 (GRCm39) probably benign Homo
Cluh GAGCCT GAGCCTAAGCCT 11: 74,560,350 (GRCm39) probably benign Het
Cluh CC CCTGAGGC 11: 74,560,359 (GRCm39) probably benign Het
Cluh CCCCGAGCC CCCCGAGCCCGAGCC 11: 74,560,340 (GRCm39) probably benign Het
Cluh AGCCTG AGCCTGCGCCTG 11: 74,560,345 (GRCm39) probably benign Het
Cntnap1 GCCCCA GCCCCACCCCCA 11: 101,080,408 (GRCm39) probably benign Het
Cntnap1 CCCAGC CCCAGCGCCAGC 11: 101,080,416 (GRCm39) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,080,395 (GRCm39) probably benign Het
Cntnap1 GCCCCA GCCCCAACCCCA 11: 101,080,402 (GRCm39) probably benign Het
Cracdl T A 1: 37,664,116 (GRCm39) E594V probably benign Homo
Cracdl C A 1: 37,664,117 (GRCm39) E594* probably null Homo
Cul9 CTC CTCTTC 17: 46,811,784 (GRCm39) probably benign Het
Cul9 CTCTTC CTCTTCTTC 17: 46,811,772 (GRCm39) probably benign Het
Cyth2 C A 7: 45,462,466 (GRCm39) S102I possibly damaging Het
Dbr1 AGGAGG AGGAGGCGGAGG 9: 99,465,739 (GRCm39) probably benign Het
Dbr1 GGAGG GGAGGACGAGG 9: 99,465,752 (GRCm39) probably benign Het
Dennd2b CACCACACTGGGGCAGCCCACACTGGGGCAG CCCCACACTGGGGCAG 7: 109,156,128 (GRCm39) probably benign Het
Dhx8 GACCGA GACCGATACCGA 11: 101,629,005 (GRCm39) probably benign Homo
Dhx8 GAGACC GAGACCCAGACC 11: 101,629,015 (GRCm39) probably benign Homo
Dhx8 CGAGAC CGAGACGGAGAC 11: 101,629,008 (GRCm39) probably benign Homo
Dnaaf9 CC CCTGC 2: 130,612,672 (GRCm39) probably benign Het
Dnah8 CCTCCCG C 17: 30,854,451 (GRCm39) probably benign Homo
Dnah8 ACTGCCCCT ACT 17: 30,854,439 (GRCm39) probably benign Het
Dnajb5 AGGTG A 4: 42,957,126 (GRCm39) probably null Het
Dusp10 G T 1: 183,769,253 (GRCm39) C73F probably damaging Homo
E4f1 CCG CCGACG 17: 24,674,166 (GRCm39) probably benign Homo
Eif3a TTA TTATTATA 19: 60,763,727 (GRCm39) probably benign Het
Fam81b TTC TTCGTC 13: 76,419,438 (GRCm39) probably benign Het
Fbxo22 G A 9: 55,116,666 (GRCm39) R56H probably damaging Het
Fcgr1 T C 3: 96,194,410 (GRCm39) D159G probably benign Homo
Fcgr1 CTTCT C 3: 96,191,820 (GRCm39) probably null Het
Fmn1 CCTCCT CCTCCTACTCCT 2: 113,356,123 (GRCm39) probably benign Het
Fmn1 CC CCTCCTTC 2: 113,356,129 (GRCm39) probably benign Het
Fmn1 CC CCCCCTGC 2: 113,356,126 (GRCm39) probably benign Het
G530012D18Rik GA GACAGAGATA 1: 85,504,899 (GRCm39) probably null Het
Gli3 G A 13: 15,818,942 (GRCm39) R248H probably damaging Het
Gm16503 G A 4: 147,625,710 (GRCm39) G68E unknown Het
Gm19345 GGATGGCAGGTG GG 7: 19,591,527 (GRCm39) probably null Het
Gm4340 AG AGCGG 10: 104,031,961 (GRCm39) probably benign Het
Gm4340 GCA GCAACA 10: 104,031,938 (GRCm39) probably benign Het
Gm4340 AGC AGCTGC 10: 104,031,958 (GRCm39) probably benign Het
Gm6309 C T 5: 146,104,993 (GRCm39) V307I probably benign Het
Gpatch11 AGGAA AGGAAGCGGAA 17: 79,149,609 (GRCm39) probably benign Het
Gpatch11 AAGAGG AAGAGGCAGAGG 17: 79,149,600 (GRCm39) probably benign Het
Hoxa10 T A 6: 52,211,166 (GRCm39) Q250L possibly damaging Homo
Hrh1 T C 6: 114,458,084 (GRCm39) I455T possibly damaging Het
Hspa1b GCGCC GC 17: 35,176,105 (GRCm39) probably benign Homo
Iba57 GAAA GAAAAA 11: 59,052,331 (GRCm39) probably null Homo
Igf1r TGGAGC TGGAGCTGGAGAGGGAGC 7: 67,875,929 (GRCm39) probably benign Het
Il17rd CGG CGGAGG 14: 26,804,637 (GRCm39) probably benign Het
Il2 TGG TGGGGCTTGAAGCGG 3: 37,179,977 (GRCm39) probably benign Het
Il2 AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTGCTGCTGCTG 3: 37,179,913 (GRCm39) probably benign Het
Kcng4 G T 8: 120,360,258 (GRCm39) Y39* probably null Homo
Klra2 G GAAATCCACAT 6: 131,198,815 (GRCm39) probably null Het
Krt10 TCCTCC TCCTCCGCCTCC 11: 99,280,099 (GRCm39) probably benign Het
Krt10 TCC TCCTCCACC 11: 99,280,105 (GRCm39) probably benign Homo
Krt10 TCCGCC TCCGCCGCC 11: 99,277,023 (GRCm39) probably benign Homo
Krtap28-10 TCCCACA TCCCACACCCACA 1: 83,019,844 (GRCm39) probably benign Homo
Krtap4-2 A ACAC 11: 99,525,839 (GRCm39) probably benign Het
Krtap9-3 AC ACAGGTGTCGC 11: 99,488,830 (GRCm39) probably benign Het
Las1l AGG AGGCGG X: 94,984,433 (GRCm39) probably benign Het
Las1l AGG AGGGGG X: 94,984,427 (GRCm39) probably benign Het
Las1l GAG GAGCAG X: 94,984,435 (GRCm39) probably benign Het
Lrit3 GCT GCTTCT 3: 129,582,459 (GRCm39) probably benign Het
Lrit3 AC ACATTC 3: 129,597,562 (GRCm39) probably null Homo
Lrit3 TGC TGCAGC 3: 129,582,455 (GRCm39) probably benign Het
Luzp1 A AGGTGGCCTCTTCAGT 4: 136,270,507 (GRCm39) probably benign Het
Mamld1 GCA GCAACA X: 70,162,445 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,441 (GRCm39) probably benign Het
Mapk8ip3 G A 17: 25,121,093 (GRCm39) probably null Homo
Mbd1 TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC 18: 74,406,644 (GRCm39) probably benign Het
Nat8f2 T A 6: 85,844,668 (GRCm39) L231F possibly damaging Homo
Nfxl1 CC CCGGGGAC 5: 72,716,464 (GRCm39) probably benign Het
Noc2l CTG CTGTTG 4: 156,324,552 (GRCm39) probably benign Het
Noc2l GGTAG GG 4: 156,325,958 (GRCm39) probably benign Homo
Noc2l GCT GCTTCT 4: 156,324,551 (GRCm39) probably benign Het
Nxpe5 C T 5: 138,228,196 (GRCm39) probably benign Het
Or10j2 GGGCTGCTTGTGGCAAT G 1: 173,098,197 (GRCm39) probably null Het
Or51a43 G C 7: 103,720,499 (GRCm39) probably benign Homo
Or51f2 CT CTAATTGCCTT 7: 102,526,440 (GRCm39) probably benign Homo
Or8b41 A G 9: 38,054,484 (GRCm39) I13V probably benign Homo
Or8u3-ps CAG CAGAG 2: 85,953,104 (GRCm39) probably null Homo
Osmr C CTCA 15: 6,867,187 (GRCm39) probably null Homo
Patl2 GC GCTAC 2: 121,956,625 (GRCm39) probably null Het
Patl2 C CTGA 2: 121,956,626 (GRCm39) probably benign Het
Patl2 CTG CTGTTG 2: 121,956,617 (GRCm39) probably benign Het
Pdik1l GTTTTTGTTTT GTTTTTGTTTTTTTTTTGTTTT 4: 134,006,678 (GRCm39) probably null Homo
Pdik1l ACCACC ACCACCCCCACC 4: 134,006,817 (GRCm39) probably benign Het
Phc1 GCTG GCTGCTTCTG 6: 122,300,557 (GRCm39) probably benign Het
Piezo1 G A 8: 123,222,308 (GRCm39) R503W probably damaging Homo
Pitrm1 TTTTA T 13: 6,610,632 (GRCm39) probably benign Homo
Pkdrej TG TGGGAGCG 15: 85,703,881 (GRCm39) probably benign Homo
Pla2g4e AGGG A 2: 120,075,205 (GRCm39) probably benign Homo
Plekhs1 AC ACCTCCCCCGAGCC 19: 56,468,295 (GRCm39) probably benign Het
Pnma8a CCTCATGATGCACCTGCTTCAACATC CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC 7: 16,695,350 (GRCm39) probably benign Homo
Pnma8b TGGA T 7: 16,679,931 (GRCm39) probably benign Het
Ppp1r3f C A X: 7,426,575 (GRCm39) G562V probably damaging Homo
Prr13 CTC CTCATC 15: 102,370,608 (GRCm39) probably benign Het
Prss41 CACA C 17: 24,063,071 (GRCm39) probably benign Het
Prtg GTAAC G 9: 72,764,363 (GRCm39) probably benign Het
Ptk2b C T 14: 66,411,298 (GRCm39) R411Q possibly damaging Homo
Ptms TCT TCTGCT 6: 124,891,420 (GRCm39) probably benign Homo
Ptms C CTTG 6: 124,891,424 (GRCm39) probably benign Homo
Ptms TTC TTCGTC 6: 124,891,422 (GRCm39) probably benign Homo
Ptpn23 G T 9: 110,216,701 (GRCm39) P1052T probably benign Homo
Rab3il1 C A 19: 10,011,115 (GRCm39) A264E probably damaging Homo
Rbm6 GCTGT G 9: 107,659,954 (GRCm39) probably null Homo
Rtbdn TAG TAGGGGCAG 8: 85,682,790 (GRCm39) probably benign Het
Rtbdn AGCG AGCGTCCGCG 8: 85,682,797 (GRCm39) probably benign Het
Rtbdn GGC GGCAGCTGC 8: 85,682,806 (GRCm39) probably benign Het
Rtbdn CGGC CGGCAGGGGC 8: 85,682,805 (GRCm39) probably benign Het
Sbp CAAAG CAAAGCTGCTGACAAAAAAG 17: 24,164,356 (GRCm39) probably benign Het
Sbp G GCTGACAACAAAGATC 17: 24,164,363 (GRCm39) probably benign Het
Setd1a GTGGTAGTG GTGGTAGTGTTGGTAGTG 7: 127,384,484 (GRCm39) probably benign Het
Sfswap GCCCACTC GCCCACTCATCCCACTC 5: 129,646,820 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,796 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,793 (GRCm39) probably benign Het
Six3 GGC GGCAGC 17: 85,928,791 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,790 (GRCm39) probably benign Het
Six3 GCG GCGCCG 17: 85,928,786 (GRCm39) probably benign Het
Six3 GGC GGCAGC 17: 85,928,785 (GRCm39) probably benign Het
Slc12a1 ACC ACCTTTGGCCACAACTCC 2: 124,996,134 (GRCm39) probably benign Homo
Smarca2 CAGCAGCAGCAGCAGCAGCA CAGCAGCAGCAGCAGCAGCAGCAGCA 19: 26,608,399 (GRCm39) probably benign Homo
Spaca1 TCGCTC TCGCTCGCGCTC 4: 34,049,836 (GRCm39) probably benign Het
Spag1 TTC TTCGTC 15: 36,197,879 (GRCm39) probably benign Het
Spag17 AGG AGGCGG 3: 99,963,573 (GRCm39) probably benign Het
Spata31h1 TTCA T 10: 82,121,303 (GRCm39) probably benign Homo
Srebf2 G T 15: 82,069,536 (GRCm39) A693S probably damaging Homo
Srpk2 T C 5: 23,750,194 (GRCm39) probably null Homo
Sry TGG TGGGGG Y: 2,662,838 (GRCm39) probably benign Homo
Sry GTG GTGTTG Y: 2,662,837 (GRCm39) probably benign Homo
Sry AACTGCT A Y: 2,663,195 (GRCm39) probably benign Het
Stard9 C CTAAGGGACTAGTAGG 2: 120,526,566 (GRCm39) probably benign Het
Supt20 GCAGCA GCAGCAACAGCA 3: 54,635,078 (GRCm39) probably benign Het
Supt20 CAGCAG CAGCAGAAGCAG 3: 54,635,082 (GRCm39) probably benign Het
Supt20 CAGCAG CAGCAGGAGCAG 3: 54,635,079 (GRCm39) probably benign Het
Tcof1 GGGTA G 18: 60,961,722 (GRCm39) probably benign Homo
Tdpoz3 A C 3: 93,733,981 (GRCm39) N219H probably benign Het
Tesk1 C CCCCG 4: 43,447,004 (GRCm39) probably null Homo
Tob1 GCA GCAACA 11: 94,105,290 (GRCm39) probably benign Het
Tob1 CACA CACAACA 11: 94,105,277 (GRCm39) probably benign Het
Tob1 A AGCC 11: 94,105,304 (GRCm39) probably benign Het
Trav15-2-dv6-2 AG AGAGG 14: 53,887,213 (GRCm39) probably benign Homo
Trav15-2-dv6-2 G GAAA 14: 53,887,214 (GRCm39) probably benign Homo
Trim63 GAGT G 4: 134,055,036 (GRCm39) probably benign Het
Tsbp1 CAG CAGAAG 17: 34,679,025 (GRCm39) probably benign Het
Tsbp1 GCA GCATCA 17: 34,679,042 (GRCm39) probably benign Het
Tsen2 G GAGA 6: 115,537,038 (GRCm39) probably benign Het
Ttf2 TC TCCCC 3: 100,870,476 (GRCm39) probably benign Homo
Tusc1 ACCGCC ACCGCCCCCGCC 4: 93,223,550 (GRCm39) probably benign Homo
Ubqlnl TGAG T 7: 103,799,042 (GRCm39) probably benign Homo
Ubtf CCT CCTACT 11: 102,197,774 (GRCm39) probably null Het
Ubtf TCC TCCACC 11: 102,197,776 (GRCm39) probably benign Het
Vps13b G T 15: 35,847,103 (GRCm39) A2629S probably damaging Homo
Wasf3 G T 5: 146,407,060 (GRCm39) R460L probably damaging Het
Zc3h13 TGCGAGATG TGCGAGATGAGCGAGATG 14: 75,561,039 (GRCm39) probably benign Homo
Zc3h13 ATGTGCGAG ATGTGCGAGGTGTGCGAG 14: 75,561,036 (GRCm39) probably benign Homo
Zfhx3 GCAACA GCAACAACAACAACA 8: 109,682,720 (GRCm39) probably benign Het
Zfhx3 GCA GCAACAGCACCA 8: 109,682,735 (GRCm39) probably benign Het
Zfhx3 AGCA AGCAACAGACGCA 8: 109,682,734 (GRCm39) probably benign Het
Zfp111 TCA TCAACA 7: 23,899,230 (GRCm39) probably benign Homo
Zfp112 CATGA CATGATGA 7: 23,824,832 (GRCm39) probably benign Homo
Zfp26 C A 9: 20,349,842 (GRCm39) A241S probably benign Homo
Zfp282 CGG CGGGGG 6: 47,881,733 (GRCm39) probably benign Het
Zfp282 CGG CGGGGG 6: 47,881,724 (GRCm39) probably benign Het
Zfp335 TC TCCCC 2: 164,749,404 (GRCm39) probably benign Het
Zfp335 TCC TCCGCC 2: 164,749,395 (GRCm39) probably benign Het
Zfp335 CTC CTCGTC 2: 164,749,394 (GRCm39) probably benign Het
Zfp462 CCACC CCACCTCAGCCACAGTCACC 4: 55,009,758 (GRCm39) probably benign Het
Zfp462 ACC ACCTCAGCCACAGTCGCC 4: 55,009,760 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCCCCACC 17: 24,899,750 (GRCm39) probably benign Het
Zfp598 AC ACCACCGC 17: 24,899,765 (GRCm39) probably benign Het
Zfp598 ACCACC ACCACCGCCACC 17: 24,899,756 (GRCm39) probably benign Het
Zfp831 TCC TCCCCC 2: 174,487,264 (GRCm39) probably benign Het
Zfp831 TC TCCGC 2: 174,487,276 (GRCm39) probably benign Het
Zfp831 CTC CTCATC 2: 174,487,269 (GRCm39) probably benign Het
Zfp93 CAGGCATAG CAG 7: 23,974,814 (GRCm39) probably benign Homo
Zscan10 TGACG TG 17: 23,828,419 (GRCm39) probably benign Homo
Other mutations in Kmt2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Kmt2b APN 7 30,285,938 (GRCm39) unclassified probably benign
IGL00821:Kmt2b APN 7 30,270,038 (GRCm39) missense probably damaging 1.00
IGL00985:Kmt2b APN 7 30,279,352 (GRCm39) missense probably damaging 1.00
IGL01092:Kmt2b APN 7 30,279,932 (GRCm39) missense probably damaging 1.00
IGL01933:Kmt2b APN 7 30,268,939 (GRCm39) critical splice donor site probably null
IGL01949:Kmt2b APN 7 30,276,586 (GRCm39) splice site probably null
IGL02253:Kmt2b APN 7 30,281,152 (GRCm39) missense probably damaging 1.00
IGL02455:Kmt2b APN 7 30,278,303 (GRCm39) critical splice donor site probably null
IGL02493:Kmt2b APN 7 30,268,936 (GRCm39) unclassified probably benign
IGL02504:Kmt2b APN 7 30,285,968 (GRCm39) unclassified probably benign
IGL02532:Kmt2b APN 7 30,286,314 (GRCm39) unclassified probably benign
IGL02698:Kmt2b APN 7 30,278,118 (GRCm39) splice site probably benign
IGL02717:Kmt2b APN 7 30,282,869 (GRCm39) missense probably damaging 1.00
IGL02826:Kmt2b APN 7 30,276,569 (GRCm39) missense probably damaging 1.00
IGL02966:Kmt2b APN 7 30,274,887 (GRCm39) missense probably benign 0.02
IGL03386:Kmt2b APN 7 30,273,396 (GRCm39) missense possibly damaging 0.94
Dean UTSW 7 30,268,835 (GRCm39) missense possibly damaging 0.83
provost UTSW 7 30,281,633 (GRCm39) missense probably damaging 1.00
tenure UTSW 7 30,268,600 (GRCm39) missense probably damaging 1.00
3-1:Kmt2b UTSW 7 30,269,040 (GRCm39) nonsense probably null
FR4304:Kmt2b UTSW 7 30,285,788 (GRCm39) unclassified probably benign
FR4340:Kmt2b UTSW 7 30,285,800 (GRCm39) unclassified probably benign
FR4340:Kmt2b UTSW 7 30,285,794 (GRCm39) unclassified probably benign
FR4340:Kmt2b UTSW 7 30,285,788 (GRCm39) unclassified probably benign
FR4342:Kmt2b UTSW 7 30,285,800 (GRCm39) unclassified probably benign
FR4449:Kmt2b UTSW 7 30,285,794 (GRCm39) unclassified probably benign
FR4449:Kmt2b UTSW 7 30,285,791 (GRCm39) unclassified probably benign
FR4449:Kmt2b UTSW 7 30,285,786 (GRCm39) unclassified probably benign
FR4548:Kmt2b UTSW 7 30,285,805 (GRCm39) unclassified probably benign
FR4589:Kmt2b UTSW 7 30,285,806 (GRCm39) unclassified probably benign
FR4589:Kmt2b UTSW 7 30,285,789 (GRCm39) nonsense probably null
FR4589:Kmt2b UTSW 7 30,285,786 (GRCm39) unclassified probably benign
FR4737:Kmt2b UTSW 7 30,285,803 (GRCm39) unclassified probably benign
FR4737:Kmt2b UTSW 7 30,285,795 (GRCm39) unclassified probably benign
FR4737:Kmt2b UTSW 7 30,285,791 (GRCm39) unclassified probably benign
FR4976:Kmt2b UTSW 7 30,285,787 (GRCm39) unclassified probably benign
FR4976:Kmt2b UTSW 7 30,285,785 (GRCm39) unclassified probably benign
FR4976:Kmt2b UTSW 7 30,285,798 (GRCm39) unclassified probably benign
FR4976:Kmt2b UTSW 7 30,285,791 (GRCm39) unclassified probably benign
FR4976:Kmt2b UTSW 7 30,285,789 (GRCm39) nonsense probably null
PIT4403001:Kmt2b UTSW 7 30,285,114 (GRCm39) missense probably damaging 1.00
PIT4802001:Kmt2b UTSW 7 30,278,996 (GRCm39) missense probably damaging 0.99
R0057:Kmt2b UTSW 7 30,276,217 (GRCm39) splice site probably benign
R0131:Kmt2b UTSW 7 30,283,346 (GRCm39) missense probably damaging 0.99
R0241:Kmt2b UTSW 7 30,276,494 (GRCm39) missense probably damaging 1.00
R0241:Kmt2b UTSW 7 30,276,494 (GRCm39) missense probably damaging 1.00
R0377:Kmt2b UTSW 7 30,273,618 (GRCm39) missense probably damaging 1.00
R0396:Kmt2b UTSW 7 30,276,180 (GRCm39) missense probably damaging 1.00
R1241:Kmt2b UTSW 7 30,274,365 (GRCm39) missense probably damaging 0.98
R1252:Kmt2b UTSW 7 30,279,912 (GRCm39) missense probably damaging 0.99
R1418:Kmt2b UTSW 7 30,276,385 (GRCm39) splice site probably benign
R1599:Kmt2b UTSW 7 30,270,000 (GRCm39) missense probably damaging 1.00
R1632:Kmt2b UTSW 7 30,283,387 (GRCm39) missense probably damaging 1.00
R1745:Kmt2b UTSW 7 30,285,275 (GRCm39) missense possibly damaging 0.90
R1867:Kmt2b UTSW 7 30,274,083 (GRCm39) missense possibly damaging 0.71
R1955:Kmt2b UTSW 7 30,274,776 (GRCm39) missense possibly damaging 0.90
R2040:Kmt2b UTSW 7 30,268,845 (GRCm39) missense probably damaging 1.00
R2113:Kmt2b UTSW 7 30,282,812 (GRCm39) missense probably damaging 1.00
R2216:Kmt2b UTSW 7 30,273,490 (GRCm39) missense probably benign 0.25
R2401:Kmt2b UTSW 7 30,276,133 (GRCm39) missense probably damaging 1.00
R2518:Kmt2b UTSW 7 30,275,493 (GRCm39) missense probably benign 0.10
R3436:Kmt2b UTSW 7 30,276,117 (GRCm39) missense probably damaging 1.00
R4248:Kmt2b UTSW 7 30,273,489 (GRCm39) missense probably benign 0.25
R4259:Kmt2b UTSW 7 30,280,506 (GRCm39) missense probably damaging 0.99
R4290:Kmt2b UTSW 7 30,281,261 (GRCm39) critical splice donor site probably null
R4388:Kmt2b UTSW 7 30,288,015 (GRCm39) unclassified probably benign
R4542:Kmt2b UTSW 7 30,279,684 (GRCm39) missense probably damaging 0.99
R4649:Kmt2b UTSW 7 30,285,783 (GRCm39) unclassified probably benign
R4722:Kmt2b UTSW 7 30,282,627 (GRCm39) missense probably damaging 1.00
R4891:Kmt2b UTSW 7 30,276,186 (GRCm39) nonsense probably null
R4916:Kmt2b UTSW 7 30,277,942 (GRCm39) missense probably damaging 0.99
R5104:Kmt2b UTSW 7 30,269,265 (GRCm39) missense probably damaging 1.00
R5254:Kmt2b UTSW 7 30,268,600 (GRCm39) missense probably damaging 1.00
R5262:Kmt2b UTSW 7 30,269,219 (GRCm39) missense probably damaging 1.00
R5307:Kmt2b UTSW 7 30,281,098 (GRCm39) missense possibly damaging 0.91
R5526:Kmt2b UTSW 7 30,279,869 (GRCm39) missense probably damaging 1.00
R5609:Kmt2b UTSW 7 30,276,570 (GRCm39) missense probably damaging 0.99
R6150:Kmt2b UTSW 7 30,287,902 (GRCm39) unclassified probably benign
R6727:Kmt2b UTSW 7 30,283,984 (GRCm39) missense probably damaging 0.98
R6824:Kmt2b UTSW 7 30,285,701 (GRCm39) unclassified probably benign
R7048:Kmt2b UTSW 7 30,268,731 (GRCm39) missense probably damaging 0.99
R7155:Kmt2b UTSW 7 30,279,388 (GRCm39) missense probably damaging 0.99
R7307:Kmt2b UTSW 7 30,279,896 (GRCm39) missense probably damaging 0.99
R7388:Kmt2b UTSW 7 30,281,385 (GRCm39) missense probably damaging 1.00
R7555:Kmt2b UTSW 7 30,268,835 (GRCm39) missense possibly damaging 0.83
R7569:Kmt2b UTSW 7 30,268,978 (GRCm39) missense possibly damaging 0.54
R7616:Kmt2b UTSW 7 30,281,633 (GRCm39) missense probably damaging 1.00
R7669:Kmt2b UTSW 7 30,282,656 (GRCm39) missense possibly damaging 0.84
R7881:Kmt2b UTSW 7 30,279,208 (GRCm39) missense probably damaging 1.00
R7999:Kmt2b UTSW 7 30,276,199 (GRCm39) missense probably damaging 1.00
R8003:Kmt2b UTSW 7 30,268,802 (GRCm39) missense probably damaging 0.98
R8189:Kmt2b UTSW 7 30,268,756 (GRCm39) missense probably damaging 0.98
R8291:Kmt2b UTSW 7 30,284,894 (GRCm39) missense probably damaging 1.00
R8314:Kmt2b UTSW 7 30,278,347 (GRCm39) missense probably damaging 0.99
R8802:Kmt2b UTSW 7 30,283,496 (GRCm39) missense probably damaging 1.00
R8954:Kmt2b UTSW 7 30,273,640 (GRCm39) missense probably damaging 1.00
R9046:Kmt2b UTSW 7 30,285,479 (GRCm39) missense probably benign 0.00
R9225:Kmt2b UTSW 7 30,286,172 (GRCm39) missense unknown
R9258:Kmt2b UTSW 7 30,281,893 (GRCm39) missense probably null 0.99
R9414:Kmt2b UTSW 7 30,282,307 (GRCm39) missense probably damaging 0.99
R9468:Kmt2b UTSW 7 30,284,513 (GRCm39) missense probably damaging 0.98
R9508:Kmt2b UTSW 7 30,269,259 (GRCm39) missense probably damaging 0.99
R9642:Kmt2b UTSW 7 30,283,340 (GRCm39) critical splice donor site probably null
R9667:Kmt2b UTSW 7 30,287,784 (GRCm39) missense unknown
R9709:Kmt2b UTSW 7 30,279,228 (GRCm39) missense probably damaging 0.98
RF001:Kmt2b UTSW 7 30,285,807 (GRCm39) unclassified probably benign
RF006:Kmt2b UTSW 7 30,285,802 (GRCm39) unclassified probably benign
RF020:Kmt2b UTSW 7 30,285,807 (GRCm39) unclassified probably benign
RF021:Kmt2b UTSW 7 30,285,782 (GRCm39) unclassified probably benign
RF030:Kmt2b UTSW 7 30,285,802 (GRCm39) unclassified probably benign
RF035:Kmt2b UTSW 7 30,285,782 (GRCm39) unclassified probably benign
X0067:Kmt2b UTSW 7 30,278,998 (GRCm39) missense probably damaging 0.99
Z1088:Kmt2b UTSW 7 30,284,676 (GRCm39) missense probably benign 0.28
Z1176:Kmt2b UTSW 7 30,276,795 (GRCm39) missense probably damaging 1.00
Z1177:Kmt2b UTSW 7 30,285,841 (GRCm39) missense unknown
Z1177:Kmt2b UTSW 7 30,283,588 (GRCm39) missense probably damaging 0.98
Z1177:Kmt2b UTSW 7 30,274,449 (GRCm39) missense probably benign 0.08
Z1186:Kmt2b UTSW 7 30,284,732 (GRCm39) missense probably benign
Z1186:Kmt2b UTSW 7 30,274,404 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCTCTTCCTAGAGCATGTAGC -3'
(R):5'- TGTTTCCAAGGCCAAGAAAGTG -3'

Sequencing Primer
(F):5'- AGGAGACTCTTCCTGCTTCTCTG -3'
(R):5'- TTTCCAAGGCCAAGAAAGTGAAGATG -3'
Posted On 2018-04-05