Incidental Mutation 'FR4737:Chd4'
ID 511645
Institutional Source Beutler Lab
Gene Symbol Chd4
Ensembl Gene ENSMUSG00000063870
Gene Name chromodomain helicase DNA binding protein 4
Synonyms D6Ertd380e, 9530019N15Rik, Mi-2beta
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # FR4737 ()
Quality Score 144.466
Status Not validated
Chromosome 6
Chromosomal Location 125073144-125107554 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) GC to GCTCCCCC at 125099094 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056889] [ENSMUST00000112390] [ENSMUST00000112392] [ENSMUST00000124317]
AlphaFold Q6PDQ2
Predicted Effect probably benign
Transcript: ENSMUST00000056889
SMART Domains Protein: ENSMUSP00000060054
Gene: ENSMUSG00000063870

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 80 92 N/A INTRINSIC
low complexity region 107 144 N/A INTRINSIC
Pfam:CHDNT 156 210 7.7e-35 PFAM
low complexity region 217 249 N/A INTRINSIC
low complexity region 271 291 N/A INTRINSIC
low complexity region 296 318 N/A INTRINSIC
low complexity region 321 347 N/A INTRINSIC
PHD 365 408 7.17e-15 SMART
RING 366 407 7.46e-1 SMART
low complexity region 424 443 N/A INTRINSIC
PHD 444 487 4.41e-15 SMART
RING 445 486 2.63e0 SMART
CHROMO 492 572 8.11e-17 SMART
CHROMO 613 670 1.98e-11 SMART
low complexity region 675 694 N/A INTRINSIC
DEXDc 715 927 2.73e-37 SMART
low complexity region 1044 1056 N/A INTRINSIC
HELICc 1073 1157 7.61e-27 SMART
DUF1087 1282 1346 5.56e-33 SMART
DUF1086 1359 1516 4.05e-108 SMART
low complexity region 1526 1540 N/A INTRINSIC
low complexity region 1560 1578 N/A INTRINSIC
low complexity region 1590 1633 N/A INTRINSIC
low complexity region 1635 1653 N/A INTRINSIC
low complexity region 1661 1674 N/A INTRINSIC
Pfam:CHDCT2 1727 1899 1.9e-98 PFAM
low complexity region 1903 1915 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112390
SMART Domains Protein: ENSMUSP00000108009
Gene: ENSMUSG00000063870

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 114 151 N/A INTRINSIC
Pfam:CHDNT 164 217 2e-28 PFAM
low complexity region 224 256 N/A INTRINSIC
low complexity region 278 298 N/A INTRINSIC
low complexity region 303 325 N/A INTRINSIC
low complexity region 328 354 N/A INTRINSIC
PHD 372 415 7.17e-15 SMART
RING 373 414 7.46e-1 SMART
low complexity region 431 450 N/A INTRINSIC
PHD 451 494 4.41e-15 SMART
RING 452 493 2.63e0 SMART
CHROMO 499 579 8.11e-17 SMART
CHROMO 620 677 1.98e-11 SMART
low complexity region 682 701 N/A INTRINSIC
DEXDc 722 934 2.73e-37 SMART
low complexity region 1051 1063 N/A INTRINSIC
HELICc 1080 1164 7.61e-27 SMART
DUF1087 1289 1353 5.56e-33 SMART
DUF1086 1366 1523 4.05e-108 SMART
low complexity region 1533 1547 N/A INTRINSIC
low complexity region 1567 1585 N/A INTRINSIC
low complexity region 1597 1640 N/A INTRINSIC
low complexity region 1642 1660 N/A INTRINSIC
low complexity region 1668 1681 N/A INTRINSIC
Pfam:CHDCT2 1735 1906 4.3e-90 PFAM
low complexity region 1910 1922 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112392
SMART Domains Protein: ENSMUSP00000108011
Gene: ENSMUSG00000063870

DomainStartEndE-ValueType
low complexity region 29 45 N/A INTRINSIC
low complexity region 49 69 N/A INTRINSIC
low complexity region 80 92 N/A INTRINSIC
low complexity region 107 144 N/A INTRINSIC
Pfam:CHDNT 156 210 1.1e-34 PFAM
low complexity region 217 249 N/A INTRINSIC
low complexity region 271 291 N/A INTRINSIC
low complexity region 296 318 N/A INTRINSIC
low complexity region 321 347 N/A INTRINSIC
PHD 352 395 7.17e-15 SMART
RING 353 394 7.46e-1 SMART
low complexity region 411 430 N/A INTRINSIC
PHD 431 474 4.41e-15 SMART
RING 432 473 2.63e0 SMART
CHROMO 479 559 8.11e-17 SMART
CHROMO 600 657 1.98e-11 SMART
low complexity region 662 681 N/A INTRINSIC
DEXDc 702 914 2.73e-37 SMART
low complexity region 1031 1043 N/A INTRINSIC
HELICc 1060 1144 7.61e-27 SMART
DUF1087 1269 1333 5.56e-33 SMART
DUF1086 1346 1503 4.05e-108 SMART
low complexity region 1513 1527 N/A INTRINSIC
low complexity region 1547 1565 N/A INTRINSIC
low complexity region 1577 1620 N/A INTRINSIC
low complexity region 1622 1640 N/A INTRINSIC
low complexity region 1648 1661 N/A INTRINSIC
Pfam:CHDCT2 1714 1886 2.8e-98 PFAM
low complexity region 1890 1902 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124317
SMART Domains Protein: ENSMUSP00000120704
Gene: ENSMUSG00000063870

DomainStartEndE-ValueType
PDB:3MWY|W 1 137 2e-13 PDB
DUF1087 141 205 5.56e-33 SMART
low complexity region 209 221 N/A INTRINSIC
DUF1086 246 403 4.05e-108 SMART
low complexity region 413 427 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157583
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.] The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality between E3.5 and E4.5, absent blastocoele failure of trophectoderm function and increased apoptosis in blastocysts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 211 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 GCTGCT GCTGCTTCTGCT 18: 61,152,950 (GRCm39) probably benign Het
Cdx1 TGCTGC TGCTGCCGCTGC 18: 61,152,946 (GRCm39) probably benign Het
Cfap46 CCTTCT CCTTCTTCT 7: 139,218,846 (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 CTTCT C 3: 96,191,820 (GRCm39) probably null Het
Fcgr1 T C 3: 96,194,410 (GRCm39) D159G probably benign Homo
Fmn1 CC CCTCCTTC 2: 113,356,129 (GRCm39) probably benign Het
Fmn1 CCTCCT CCTCCTACTCCT 2: 113,356,123 (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 AGC AGCTGC 10: 104,031,958 (GRCm39) probably benign Het
Gm4340 AG AGCGG 10: 104,031,961 (GRCm39) probably benign Het
Gm4340 GCA GCAACA 10: 104,031,938 (GRCm39) probably benign Het
Gm6309 C T 5: 146,104,993 (GRCm39) V307I probably benign Het
Gpatch11 AAGAGG AAGAGGCAGAGG 17: 79,149,600 (GRCm39) probably benign Het
Gpatch11 AGGAA AGGAAGCGGAA 17: 79,149,609 (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
Kmt2b CCTCCT CCTCCTTCTCCT 7: 30,285,792 (GRCm39) probably benign Het
Kmt2b CCTCCT CCTCCTGCTCCT 7: 30,285,795 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,803 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,791 (GRCm39) probably benign Het
Krt10 TCCTCC TCCTCCGCCTCC 11: 99,280,099 (GRCm39) probably benign Het
Krt10 TCCGCC TCCGCCGCC 11: 99,277,023 (GRCm39) probably benign Homo
Krt10 TCC TCCTCCACC 11: 99,280,105 (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 AGGGGG X: 94,984,427 (GRCm39) probably benign Het
Las1l GAG GAGCAG X: 94,984,435 (GRCm39) probably benign Het
Las1l AGG AGGCGG X: 94,984,433 (GRCm39) probably benign Het
Lrit3 TGC TGCAGC 3: 129,582,455 (GRCm39) probably benign Het
Lrit3 AC ACATTC 3: 129,597,562 (GRCm39) probably null Homo
Lrit3 GCT GCTTCT 3: 129,582,459 (GRCm39) probably benign Het
Luzp1 A AGGTGGCCTCTTCAGT 4: 136,270,507 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,441 (GRCm39) probably benign Het
Mamld1 GCA GCAACA X: 70,162,445 (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 GGC GGCAGCTGC 8: 85,682,806 (GRCm39) probably benign Het
Rtbdn CGGC CGGCAGGGGC 8: 85,682,805 (GRCm39) probably benign Het
Rtbdn AGCG AGCGTCCGCG 8: 85,682,797 (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 GGC GGCAGC 17: 85,928,785 (GRCm39) probably benign Het
Six3 GCG GCGCCG 17: 85,928,786 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,790 (GRCm39) probably benign Het
Six3 GGC GGCAGC 17: 85,928,791 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,793 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,796 (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 AACTGCT A Y: 2,663,195 (GRCm39) probably benign Het
Sry GTG GTGTTG Y: 2,662,837 (GRCm39) probably benign Homo
Sry TGG TGGGGG Y: 2,662,838 (GRCm39) probably benign Homo
Stard9 C CTAAGGGACTAGTAGG 2: 120,526,566 (GRCm39) probably benign Het
Supt20 CAGCAG CAGCAGGAGCAG 3: 54,635,079 (GRCm39) probably benign Het
Supt20 CAGCAG CAGCAGAAGCAG 3: 54,635,082 (GRCm39) probably benign Het
Supt20 GCAGCA GCAGCAACAGCA 3: 54,635,078 (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: 47,881,724 (GRCm39) probably benign Het
Zfp282 CGG CGGGGG 6: 47,881,733 (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 Chd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Chd4 APN 6 125,086,860 (GRCm39) missense probably damaging 1.00
IGL00917:Chd4 APN 6 125,081,909 (GRCm39) missense possibly damaging 0.95
IGL01088:Chd4 APN 6 125,099,431 (GRCm39) unclassified probably benign
IGL02005:Chd4 APN 6 125,105,779 (GRCm39) missense possibly damaging 0.71
IGL02405:Chd4 APN 6 125,074,190 (GRCm39) missense probably benign 0.06
IGL02707:Chd4 APN 6 125,085,730 (GRCm39) missense probably damaging 1.00
IGL02976:Chd4 APN 6 125,098,331 (GRCm39) missense probably damaging 1.00
IGL03001:Chd4 APN 6 125,078,529 (GRCm39) missense possibly damaging 0.93
FR4304:Chd4 UTSW 6 125,099,107 (GRCm39) unclassified probably benign
FR4589:Chd4 UTSW 6 125,099,102 (GRCm39) unclassified probably benign
FR4589:Chd4 UTSW 6 125,099,096 (GRCm39) missense probably benign 0.02
FR4976:Chd4 UTSW 6 125,099,094 (GRCm39) unclassified probably benign
R0311:Chd4 UTSW 6 125,078,628 (GRCm39) missense probably benign 0.15
R0414:Chd4 UTSW 6 125,084,443 (GRCm39) missense probably damaging 1.00
R0647:Chd4 UTSW 6 125,086,086 (GRCm39) missense probably damaging 1.00
R0656:Chd4 UTSW 6 125,079,930 (GRCm39) missense probably damaging 0.98
R1342:Chd4 UTSW 6 125,074,151 (GRCm39) missense probably benign 0.40
R1651:Chd4 UTSW 6 125,100,547 (GRCm39) missense possibly damaging 0.92
R1850:Chd4 UTSW 6 125,098,619 (GRCm39) missense probably damaging 1.00
R2190:Chd4 UTSW 6 125,091,260 (GRCm39) missense probably benign 0.18
R2192:Chd4 UTSW 6 125,082,320 (GRCm39) missense probably damaging 0.99
R2858:Chd4 UTSW 6 125,081,849 (GRCm39) missense probably damaging 0.99
R3406:Chd4 UTSW 6 125,098,970 (GRCm39) missense probably benign 0.09
R3431:Chd4 UTSW 6 125,097,523 (GRCm39) splice site probably benign
R4330:Chd4 UTSW 6 125,078,565 (GRCm39) missense probably benign 0.29
R4394:Chd4 UTSW 6 125,098,581 (GRCm39) missense probably damaging 0.99
R4538:Chd4 UTSW 6 125,097,649 (GRCm39) missense probably damaging 0.99
R4664:Chd4 UTSW 6 125,078,465 (GRCm39) missense possibly damaging 0.58
R4805:Chd4 UTSW 6 125,105,908 (GRCm39) missense possibly damaging 0.86
R5050:Chd4 UTSW 6 125,084,443 (GRCm39) missense probably damaging 1.00
R5055:Chd4 UTSW 6 125,077,949 (GRCm39) missense possibly damaging 0.65
R5232:Chd4 UTSW 6 125,098,273 (GRCm39) missense probably damaging 1.00
R5314:Chd4 UTSW 6 125,077,551 (GRCm39) missense probably damaging 0.96
R5343:Chd4 UTSW 6 125,097,326 (GRCm39) missense probably damaging 1.00
R5502:Chd4 UTSW 6 125,082,239 (GRCm39) missense possibly damaging 0.83
R5613:Chd4 UTSW 6 125,097,509 (GRCm39) missense probably damaging 0.99
R6211:Chd4 UTSW 6 125,078,248 (GRCm39) missense possibly damaging 0.82
R6606:Chd4 UTSW 6 125,086,389 (GRCm39) missense probably damaging 0.99
R6753:Chd4 UTSW 6 125,091,263 (GRCm39) missense probably benign 0.01
R6808:Chd4 UTSW 6 125,099,086 (GRCm39) missense possibly damaging 0.53
R6939:Chd4 UTSW 6 125,083,501 (GRCm39) missense probably damaging 0.99
R6968:Chd4 UTSW 6 125,085,281 (GRCm39) missense probably damaging 1.00
R6973:Chd4 UTSW 6 125,099,825 (GRCm39) missense possibly damaging 0.53
R6992:Chd4 UTSW 6 125,091,339 (GRCm39) missense probably benign 0.14
R7058:Chd4 UTSW 6 125,085,405 (GRCm39) missense possibly damaging 0.74
R7081:Chd4 UTSW 6 125,106,948 (GRCm39) missense unknown
R7253:Chd4 UTSW 6 125,083,555 (GRCm39) splice site probably null
R7423:Chd4 UTSW 6 125,105,822 (GRCm39) missense possibly damaging 0.92
R7535:Chd4 UTSW 6 125,105,836 (GRCm39) missense probably benign 0.32
R7566:Chd4 UTSW 6 125,078,866 (GRCm39) missense possibly damaging 0.86
R8053:Chd4 UTSW 6 125,105,779 (GRCm39) nonsense probably null
R8155:Chd4 UTSW 6 125,082,287 (GRCm39) missense probably benign 0.00
R8711:Chd4 UTSW 6 125,100,485 (GRCm39) unclassified probably benign
R8783:Chd4 UTSW 6 125,100,347 (GRCm39) missense possibly damaging 0.53
R9020:Chd4 UTSW 6 125,084,469 (GRCm39) missense probably damaging 1.00
R9093:Chd4 UTSW 6 125,090,974 (GRCm39) missense probably benign 0.13
R9417:Chd4 UTSW 6 125,097,688 (GRCm39) missense probably damaging 0.99
R9509:Chd4 UTSW 6 125,099,485 (GRCm39) missense possibly damaging 0.96
RF046:Chd4 UTSW 6 125,099,094 (GRCm39) unclassified probably benign
RF052:Chd4 UTSW 6 125,099,108 (GRCm39) unclassified probably benign
RF058:Chd4 UTSW 6 125,099,094 (GRCm39) unclassified probably benign
RF060:Chd4 UTSW 6 125,099,108 (GRCm39) unclassified probably benign
X0025:Chd4 UTSW 6 125,083,430 (GRCm39) nonsense probably null
X0027:Chd4 UTSW 6 125,079,127 (GRCm39) missense probably damaging 0.98
X0063:Chd4 UTSW 6 125,090,978 (GRCm39) missense probably damaging 1.00
Z1176:Chd4 UTSW 6 125,078,561 (GRCm39) missense probably benign 0.36
Z1176:Chd4 UTSW 6 125,077,823 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- AGCATGACATGGCCTCTGAC -3'
(R):5'- TACAGAGCGGCCTTCAGTTG -3'

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