Incidental Mutation 'FR4589:Blm'
ID 511354
Institutional Source Beutler Lab
Gene Symbol Blm
Ensembl Gene ENSMUSG00000030528
Gene Name Bloom syndrome, RecQ like helicase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # FR4589 ()
Quality Score 217.468
Status Not validated
Chromosome 7
Chromosomal Location 80104741-80184896 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TACC to TACCGACC at 80113518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000081314] [ENSMUST00000170315]
AlphaFold O88700
Predicted Effect probably null
Transcript: ENSMUST00000081314
SMART Domains Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528

DomainStartEndE-ValueType
low complexity region 46 54 N/A INTRINSIC
low complexity region 118 132 N/A INTRINSIC
low complexity region 142 169 N/A INTRINSIC
low complexity region 219 231 N/A INTRINSIC
low complexity region 318 335 N/A INTRINSIC
Pfam:BDHCT 376 416 5.5e-27 PFAM
low complexity region 557 574 N/A INTRINSIC
DEXDc 672 873 1.59e-29 SMART
HELICc 910 992 1.29e-24 SMART
RQC 1084 1198 1.43e-15 SMART
HRDC 1217 1297 9.4e-20 SMART
low complexity region 1357 1371 N/A INTRINSIC
low complexity region 1378 1392 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000170315
SMART Domains Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528

DomainStartEndE-ValueType
Pfam:BLM_N 4 375 1.1e-161 PFAM
Pfam:BDHCT 380 419 6.4e-25 PFAM
Pfam:BDHCT_assoc 433 658 8.8e-108 PFAM
DEXDc 675 876 1.59e-29 SMART
HELICc 913 995 1.29e-24 SMART
Pfam:RecQ_Zn_bind 1006 1078 1.5e-19 PFAM
RQC 1087 1201 1.43e-15 SMART
HRDC 1220 1300 9.4e-20 SMART
low complexity region 1360 1374 N/A INTRINSIC
low complexity region 1381 1395 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205730
Predicted Effect probably null
Transcript: ENSMUST00000206901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206948
Predicted Effect probably benign
Transcript: ENSMUST00000206989
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.4%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 126 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7530416G11Rik T A 15: 85,378,508 (GRCm39) E45V unknown Homo
A530064D06Rik GTAGGAAGCTTAG GTAG 17: 48,470,549 (GRCm39) probably benign Homo
Anxa2 C CCCA 9: 69,387,492 (GRCm39) probably benign Het
Apol6 GTTT GTTTTTTT 15: 76,935,638 (GRCm39) probably null Het
Arrb2 C T 11: 70,329,497 (GRCm39) T269M probably damaging Homo
AY761185 CACTGTGGG C 8: 21,433,919 (GRCm39) probably null Het
Bcas3 G A 11: 85,400,323 (GRCm39) V431I probably benign Homo
Btnl10 AGA AGAGGA 11: 58,814,755 (GRCm39) probably benign Homo
Btnl4 T A 17: 34,691,610 (GRCm39) K293M probably benign Het
Catsper2 TGTC TGTCGTC 2: 121,228,260 (GRCm39) probably benign Het
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Het
Cd109 ATTTAT ATTTATTTATTTCTTTAT 9: 78,619,811 (GRCm39) probably benign Het
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Homo
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Homo
Chd4 C T 6: 125,099,096 (GRCm39) P1597L probably benign Homo
Chd4 CCCCTGCCCCTGCCACTGCCCCTGCC CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC 6: 125,099,102 (GRCm39) probably benign Homo
Chga AGC AGCTGC 12: 102,527,661 (GRCm39) probably benign Het
Cluh AGCC AGCCTGGGCC 11: 74,560,357 (GRCm39) probably benign Het
Cnpy3 ACCC ACCCCCC 17: 47,047,665 (GRCm39) probably benign Het
Cntnap1 CCCAGC CCCAGCTCCAGC 11: 101,080,392 (GRCm39) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,080,407 (GRCm39) probably benign Het
Cntnap1 CAGCCC CAGCCCGAGCCC 11: 101,080,406 (GRCm39) probably benign Het
Cntnap1 AGCCCC AGCCCCCGCCCC 11: 101,080,401 (GRCm39) probably benign Het
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Col6a5 A T 9: 105,811,373 (GRCm39) N715K unknown Homo
Cttnbp2 ATT ATTTCTGTT 6: 18,367,457 (GRCm39) probably benign Het
Dbr1 AGGAGG AGGAGGGGGAGG 9: 99,465,730 (GRCm39) probably benign Het
Dbr1 AGGAGG AGGAGGGGGAGG 9: 99,465,733 (GRCm39) probably benign Het
Dbr1 AGGAGG AGGAGGCGGAGG 9: 99,465,736 (GRCm39) probably benign Het
Dbr1 GGAGGA GGAGGAAGAGGA 9: 99,465,749 (GRCm39) probably benign Het
Dclre1a AGGCTTTG AG 19: 56,532,555 (GRCm39) probably benign Het
Dcpp1 A C 17: 24,100,428 (GRCm39) K53Q probably benign Het
Dhx8 CGAGAC CGAGACAGAGAC 11: 101,629,014 (GRCm39) probably benign Homo
Dnaaf9 CC CCTGC 2: 130,612,672 (GRCm39) probably benign Het
Dnaaf9 TCC TCCCCC 2: 130,612,665 (GRCm39) probably benign Het
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Homo
Dthd1 C CTT 5: 63,000,369 (GRCm39) probably null Homo
Efhd2 GCCGCC GCCGCCTCCGCC 4: 141,602,075 (GRCm39) probably benign Het
Eps8 AC ACTCGC 6: 137,494,067 (GRCm39) probably null Het
Ermn TTC TTCATC 2: 57,938,081 (GRCm39) probably benign Het
Fam81b TC TCTCC 13: 76,419,442 (GRCm39) probably benign Het
Fbrsl1 TG TGCGTGTGCTGGCG 5: 110,526,016 (GRCm39) probably benign Het
Fbxo43 CCTGTG CCTGTGTCTGTG 15: 36,152,247 (GRCm39) probably benign Het
Fbxo43 GCCTGT GCCTGTTCCTGT 15: 36,152,246 (GRCm39) probably benign Het
Fmn1 CTCCTC CTCCTCTTCCTC 2: 113,356,118 (GRCm39) probably benign Het
Fmn1 TCCTCC TCCTCCCCCTCC 2: 113,356,119 (GRCm39) probably benign Het
Frmpd2 G T 14: 33,232,978 (GRCm39) L399F probably damaging Homo
Gabre GCTCCGACTCCGACTCCG GCTCCGACTCCGACTCCGACTCCG X: 71,313,636 (GRCm39) probably benign Homo
Gabre ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC X: 71,313,648 (GRCm39) probably benign Homo
Gbp2b A G 3: 142,309,413 (GRCm39) I175V probably benign Het
Gm4340 AG AGCCG 10: 104,031,961 (GRCm39) probably benign Het
Gm4340 CAG CAGTAG 10: 104,031,939 (GRCm39) probably null Het
Gm4340 AGC AGCCGC 10: 104,031,940 (GRCm39) probably benign Het
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Het
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Homo
Ipo9 TCC TCCCCC 1: 135,314,019 (GRCm39) probably benign Het
Ipo9 CCATC CCATCATC 1: 135,314,004 (GRCm39) probably benign Het
Isg20l2 GAAA GAAAAAA 3: 87,839,024 (GRCm39) probably benign Homo
Klra9 C G 6: 130,159,366 (GRCm39) D216H probably benign Het
Kmt2b TCC TCCTCCGCC 7: 30,285,806 (GRCm39) probably benign Het
Kmt2b CCTCCT CCTCCTGCTCCT 7: 30,285,786 (GRCm39) probably benign Het
Kmt2b CCTCCT CCTCCTACTCCT 7: 30,285,789 (GRCm39) probably null Het
Krt10 TCC TCCGCCGCC 11: 99,280,102 (GRCm39) probably benign Het
Las1l TC TCTTCCAC X: 94,984,231 (GRCm39) probably benign Het
Las1l TCTTCC TCTTCCGCTTCC X: 94,984,225 (GRCm39) probably benign Het
Las1l TTCCTCCTCCTC TTCCTC X: 94,984,227 (GRCm39) probably benign Het
Lce1m TGCTGCCACC TGCTGCCACCACGGCTGCCACC 3: 92,925,575 (GRCm39) probably benign Homo
Loricrin GCCGCCGCC GC 3: 91,989,201 (GRCm39) probably null Het
Lrit3 AC ACATCC 3: 129,597,562 (GRCm39) probably null Het
Lrrc63 CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG 14: 75,362,622 (GRCm39) probably benign Homo
Mapk7 GG GGTGCTAG 11: 61,381,048 (GRCm39) probably benign Het
Med12l GCAACA GCAACAACA 3: 59,183,377 (GRCm39) probably benign Het
Nacad GGGTCA GGGTCATGGTCA 11: 6,549,753 (GRCm39) probably benign Het
Ndufc2 G C 7: 97,049,497 (GRCm39) M34I probably benign Het
Nphp3 CACG C 9: 103,903,138 (GRCm39) probably benign Het
Nrg3 AG AGCCTTTG 14: 38,119,223 (GRCm39) probably benign Het
Pdik1l TTTTGTTTT TTTTGTTTTGTGTTTGTTTT 4: 134,006,680 (GRCm39) probably null Homo
Pdik1l TTTTTGTTTT TTTTTGTTTTGATTTTGTTTT 4: 134,006,679 (GRCm39) probably null Homo
Phaf1 G A 8: 105,967,730 (GRCm39) G207E probably benign Homo
Plekhs1 AC ACCTCCCCCGAGGC 19: 56,468,295 (GRCm39) probably benign Het
Prag1 CCGC CCGCCGC 8: 36,571,037 (GRCm39) probably benign Homo
Prtg G A 9: 72,764,147 (GRCm39) R540Q probably damaging Het
Raet1d T TCCTCTCTGGTAG 10: 22,246,817 (GRCm39) probably null Homo
Rhbdf1 A ATTTT 11: 32,164,391 (GRCm39) probably benign Het
Rps19 AAAATT AAAATTGAAATT 7: 24,588,607 (GRCm39) probably benign Het
Rtbdn GGCAGC GGCAGCCGCAGC 8: 85,682,800 (GRCm39) probably benign Het
Scaf4 TGCGGC TGC 16: 90,026,742 (GRCm39) probably benign Homo
Serac1 T A 17: 6,121,083 (GRCm39) K70N probably damaging Homo
Setd1a CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG 7: 127,384,469 (GRCm39) probably benign Het
Shf TCT TCTGCT 2: 122,184,658 (GRCm39) probably benign Homo
Shroom4 TGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCA X: 6,536,115 (GRCm39) probably benign Homo
Six3 CGG CGGAGG 17: 85,928,793 (GRCm39) probably benign Het
Snx1 TCT TCTCCT 9: 66,012,208 (GRCm39) probably benign Homo
Spag17 AGG AGGGGG 3: 99,963,561 (GRCm39) probably benign Het
Spag17 GGA GGATGA 3: 99,963,574 (GRCm39) probably benign Het
Speer4a1 C A 5: 26,241,746 (GRCm39) E127* probably null Het
Sry ACTG ACTGCTG Y: 2,662,818 (GRCm39) probably benign Het
Supt20 A AGCAGCT 3: 54,635,092 (GRCm39) probably benign Het
Supt20 GCAGCA GCAGCATCAGCA 3: 54,635,072 (GRCm39) probably benign Het
Supt20 CAGCAG CAGCAGGAGCAG 3: 54,635,076 (GRCm39) probably benign Het
Tcof1 GGGTA G 18: 60,961,722 (GRCm39) probably benign Homo
Tert C CAAGGGTGCG 13: 73,796,423 (GRCm39) probably benign Het
Tmbim7 C T 5: 3,720,064 (GRCm39) R100C possibly damaging Het
Tmed6 C CTAGA 8: 107,788,230 (GRCm39) probably null Homo
Tob1 CACA CACAACA 11: 94,105,277 (GRCm39) probably benign Het
Tob1 CA CAGCAA 11: 94,105,303 (GRCm39) probably null Het
Trcg1 AGCTCCTGTGTCTGT A 9: 57,149,485 (GRCm39) probably null Homo
Trim16 A AAGC 11: 62,711,521 (GRCm39) probably benign Homo
Tsbp1 GCA GCACCA 17: 34,679,027 (GRCm39) probably benign Het
Tsbp1 AGC AGCCGC 17: 34,679,047 (GRCm39) probably benign Het
Tubgcp4 GTGA G 2: 121,005,944 (GRCm39) probably benign Het
Tusc1 ACCGCC ACCGCCCCCGCC 4: 93,223,544 (GRCm39) probably benign Het
Ubtf CTTC CTTCTTC 11: 102,197,771 (GRCm39) probably benign Het
Ubtf CTCTTC CTCTTCTTC 11: 102,197,769 (GRCm39) probably benign Het
Vars1 GTGG GTGGAGTCCTGGTTGG 17: 35,234,964 (GRCm39) probably benign Homo
Vmn2r52 C T 7: 9,892,947 (GRCm39) E731K probably damaging Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Homo
Zc3h13 GTGCGAGAT GTGCGAGATTTGCGAGAT 14: 75,561,038 (GRCm39) probably benign Het
Zc3h13 CGGGATGTGCG CGGGATGTGCGGGATGTGCG 14: 75,561,032 (GRCm39) probably benign Homo
Zc3h13 TGTGCGAG TGTGCGAGGAGTGCGAG 14: 75,561,037 (GRCm39) probably benign Het
Zfhx3 CAGCA CAGCAACAGAAGCA 8: 109,682,733 (GRCm39) probably benign Het
Zfp282 GGC GGCAGC 6: 47,881,725 (GRCm39) probably benign Het
Zfp459 GA GAGTTA 13: 67,556,394 (GRCm39) probably null Homo
Zfp598 ACCACC ACCACCCCCACC 17: 24,899,753 (GRCm39) probably benign Het
Zfp831 TCC TCCCCC 2: 174,487,261 (GRCm39) probably benign Het
Zfp997 G A 13: 66,270,022 (GRCm39) S396N probably benign Het
Other mutations in Blm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Blm APN 7 80,123,819 (GRCm39) missense probably damaging 1.00
IGL01658:Blm APN 7 80,113,689 (GRCm39) missense probably damaging 0.98
IGL02048:Blm APN 7 80,152,709 (GRCm39) splice site probably benign
IGL02060:Blm APN 7 80,164,328 (GRCm39) splice site probably benign
IGL02063:Blm APN 7 80,159,167 (GRCm39) nonsense probably null
IGL02102:Blm APN 7 80,119,504 (GRCm39) missense probably damaging 1.00
IGL02420:Blm APN 7 80,145,754 (GRCm39) missense probably damaging 1.00
IGL02452:Blm APN 7 80,153,125 (GRCm39) splice site probably null
IGL02566:Blm APN 7 80,123,944 (GRCm39) missense probably damaging 1.00
IGL03387:Blm APN 7 80,143,895 (GRCm39) missense probably damaging 1.00
FR4304:Blm UTSW 7 80,162,667 (GRCm39) small insertion probably benign
FR4304:Blm UTSW 7 80,113,521 (GRCm39) frame shift probably null
FR4340:Blm UTSW 7 80,162,658 (GRCm39) small insertion probably benign
FR4340:Blm UTSW 7 80,162,655 (GRCm39) small insertion probably benign
FR4340:Blm UTSW 7 80,113,515 (GRCm39) unclassified probably benign
FR4449:Blm UTSW 7 80,162,656 (GRCm39) small insertion probably benign
FR4548:Blm UTSW 7 80,113,517 (GRCm39) frame shift probably null
FR4737:Blm UTSW 7 80,113,522 (GRCm39) frame shift probably null
FR4737:Blm UTSW 7 80,113,519 (GRCm39) frame shift probably null
FR4976:Blm UTSW 7 80,162,655 (GRCm39) small insertion probably benign
FR4976:Blm UTSW 7 80,113,515 (GRCm39) unclassified probably benign
R0133:Blm UTSW 7 80,152,115 (GRCm39) missense possibly damaging 0.93
R0194:Blm UTSW 7 80,114,694 (GRCm39) unclassified probably benign
R0526:Blm UTSW 7 80,155,641 (GRCm39) nonsense probably null
R0673:Blm UTSW 7 80,149,499 (GRCm39) critical splice donor site probably null
R0972:Blm UTSW 7 80,163,118 (GRCm39) missense probably benign
R0980:Blm UTSW 7 80,149,706 (GRCm39) splice site probably null
R1120:Blm UTSW 7 80,131,214 (GRCm39) missense probably damaging 1.00
R1301:Blm UTSW 7 80,105,165 (GRCm39) nonsense probably null
R1769:Blm UTSW 7 80,163,118 (GRCm39) missense probably benign
R1866:Blm UTSW 7 80,143,862 (GRCm39) missense probably benign 0.08
R1874:Blm UTSW 7 80,147,166 (GRCm39) missense probably damaging 1.00
R1966:Blm UTSW 7 80,162,934 (GRCm39) missense possibly damaging 0.86
R1991:Blm UTSW 7 80,155,697 (GRCm39) splice site probably null
R2013:Blm UTSW 7 80,152,147 (GRCm39) missense probably damaging 0.99
R2014:Blm UTSW 7 80,152,147 (GRCm39) missense probably damaging 0.99
R2015:Blm UTSW 7 80,152,147 (GRCm39) missense probably damaging 0.99
R2016:Blm UTSW 7 80,155,674 (GRCm39) missense probably benign 0.26
R2103:Blm UTSW 7 80,155,697 (GRCm39) splice site probably null
R2161:Blm UTSW 7 80,131,118 (GRCm39) splice site probably null
R2215:Blm UTSW 7 80,149,595 (GRCm39) missense possibly damaging 0.69
R3689:Blm UTSW 7 80,162,827 (GRCm39) missense possibly damaging 0.56
R4049:Blm UTSW 7 80,152,610 (GRCm39) missense probably benign 0.04
R4155:Blm UTSW 7 80,162,652 (GRCm39) small deletion probably benign
R4695:Blm UTSW 7 80,143,976 (GRCm39) missense probably damaging 1.00
R4774:Blm UTSW 7 80,113,596 (GRCm39) missense probably damaging 1.00
R4833:Blm UTSW 7 80,116,574 (GRCm39) missense probably benign
R4835:Blm UTSW 7 80,159,294 (GRCm39) missense probably benign 0.41
R4994:Blm UTSW 7 80,108,573 (GRCm39) missense probably benign 0.00
R5039:Blm UTSW 7 80,155,621 (GRCm39) missense possibly damaging 0.50
R5330:Blm UTSW 7 80,108,684 (GRCm39) missense possibly damaging 0.73
R5375:Blm UTSW 7 80,162,977 (GRCm39) missense probably benign 0.00
R5408:Blm UTSW 7 80,152,370 (GRCm39) missense probably benign 0.01
R5574:Blm UTSW 7 80,149,521 (GRCm39) missense probably damaging 1.00
R5606:Blm UTSW 7 80,110,580 (GRCm39) splice site probably null
R5702:Blm UTSW 7 80,108,675 (GRCm39) missense probably benign 0.13
R5809:Blm UTSW 7 80,114,592 (GRCm39) missense probably damaging 1.00
R6114:Blm UTSW 7 80,163,235 (GRCm39) missense probably damaging 1.00
R6157:Blm UTSW 7 80,162,733 (GRCm39) missense probably benign 0.18
R6163:Blm UTSW 7 80,162,652 (GRCm39) small deletion probably benign
R6254:Blm UTSW 7 80,130,090 (GRCm39) missense probably benign 0.04
R6266:Blm UTSW 7 80,149,688 (GRCm39) missense probably benign 0.03
R6364:Blm UTSW 7 80,144,274 (GRCm39) nonsense probably null
R6446:Blm UTSW 7 80,162,652 (GRCm39) small deletion probably benign
R6502:Blm UTSW 7 80,131,223 (GRCm39) missense probably damaging 0.98
R6700:Blm UTSW 7 80,113,598 (GRCm39) missense possibly damaging 0.91
R7002:Blm UTSW 7 80,119,501 (GRCm39) missense probably benign 0.00
R7105:Blm UTSW 7 80,149,516 (GRCm39) missense probably benign 0.44
R7320:Blm UTSW 7 80,105,102 (GRCm39) nonsense probably null
R7465:Blm UTSW 7 80,162,863 (GRCm39) missense probably benign 0.02
R7561:Blm UTSW 7 80,152,276 (GRCm39) missense probably damaging 0.99
R8500:Blm UTSW 7 80,105,032 (GRCm39) missense probably damaging 1.00
R8543:Blm UTSW 7 80,143,964 (GRCm39) missense probably damaging 0.98
R8774-TAIL:Blm UTSW 7 80,162,655 (GRCm39) small insertion probably benign
R8774-TAIL:Blm UTSW 7 80,162,666 (GRCm39) small insertion probably benign
R8774-TAIL:Blm UTSW 7 80,162,667 (GRCm39) small insertion probably benign
R8775-TAIL:Blm UTSW 7 80,162,679 (GRCm39) small insertion probably benign
R8860:Blm UTSW 7 80,144,276 (GRCm39) missense probably benign 0.30
R8928:Blm UTSW 7 80,162,652 (GRCm39) small deletion probably benign
R9089:Blm UTSW 7 80,162,867 (GRCm39) missense probably damaging 1.00
R9363:Blm UTSW 7 80,108,663 (GRCm39) missense probably damaging 1.00
RF001:Blm UTSW 7 80,162,675 (GRCm39) small insertion probably benign
RF001:Blm UTSW 7 80,162,654 (GRCm39) small insertion probably benign
RF001:Blm UTSW 7 80,162,651 (GRCm39) small insertion probably benign
RF002:Blm UTSW 7 80,162,675 (GRCm39) small insertion probably benign
RF002:Blm UTSW 7 80,162,653 (GRCm39) small insertion probably benign
RF007:Blm UTSW 7 80,162,681 (GRCm39) nonsense probably null
RF016:Blm UTSW 7 80,162,674 (GRCm39) nonsense probably null
RF018:Blm UTSW 7 80,162,674 (GRCm39) nonsense probably null
RF027:Blm UTSW 7 80,162,662 (GRCm39) frame shift probably null
RF028:Blm UTSW 7 80,162,653 (GRCm39) nonsense probably null
RF031:Blm UTSW 7 80,162,671 (GRCm39) small insertion probably benign
RF031:Blm UTSW 7 80,162,654 (GRCm39) small insertion probably benign
RF032:Blm UTSW 7 80,162,678 (GRCm39) small insertion probably benign
RF036:Blm UTSW 7 80,162,662 (GRCm39) nonsense probably null
RF044:Blm UTSW 7 80,162,678 (GRCm39) small insertion probably benign
RF053:Blm UTSW 7 80,162,669 (GRCm39) small insertion probably benign
RF064:Blm UTSW 7 80,162,671 (GRCm39) nonsense probably null
X0061:Blm UTSW 7 80,108,598 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GGTTGAAAACCCAGAGATTAAACC -3'
(R):5'- GGTGGACTTCATGGAAACGG -3'

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