Incidental Mutation 'R3689:Blm'
ID 269668
Institutional Source Beutler Lab
Gene Symbol Blm
Ensembl Gene ENSMUSG00000030528
Gene Name Bloom syndrome, RecQ like helicase
Synonyms
MMRRC Submission 040684-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3689 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80454733-80535119 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to C at 80513079 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 175 (P175A)
Ref Sequence ENSEMBL: ENSMUSP00000127995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081314] [ENSMUST00000170315]
AlphaFold O88700
Predicted Effect possibly damaging
Transcript: ENSMUST00000081314
AA Change: P172A

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: P172A

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 noncoding transcript
Transcript: ENSMUST00000166096
Predicted Effect possibly damaging
Transcript: ENSMUST00000170315
AA Change: P175A

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: P175A

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 noncoding transcript
Transcript: ENSMUST00000205263
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (53/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700057G04Rik A C 9: 92,352,620 (GRCm38) N60T probably damaging Het
Adcy2 A T 13: 68,630,969 (GRCm38) L984Q probably damaging Het
Atg16l1 T C 1: 87,785,904 (GRCm38) V427A probably damaging Het
Bclaf1 C T 10: 20,325,397 (GRCm38) T423I possibly damaging Het
Bpifb1 A G 2: 154,209,899 (GRCm38) D208G probably benign Het
Cdc42ep1 T C 15: 78,847,429 (GRCm38) S25P probably benign Het
Cep162 G A 9: 87,225,694 (GRCm38) Q548* probably null Het
Chchd10 T C 10: 75,936,001 (GRCm38) probably benign Het
Cog3 T C 14: 75,754,438 (GRCm38) M1V probably null Het
Dcx T C X: 143,877,244 (GRCm38) E268G possibly damaging Het
Elmsan1 C T 12: 84,156,471 (GRCm38) G886S probably benign Het
Erich2 T C 2: 70,540,753 (GRCm38) V419A unknown Het
Fam129a A G 1: 151,703,696 (GRCm38) probably null Het
Fam53c A G 18: 34,770,833 (GRCm38) D386G probably damaging Het
Fgd2 A G 17: 29,378,950 (GRCm38) T620A probably benign Het
G930045G22Rik A T 6: 50,846,555 (GRCm38) noncoding transcript Het
Grpel1 G A 5: 36,469,425 (GRCm38) probably null Het
Map3k15 T A X: 160,122,572 (GRCm38) N1295K possibly damaging Het
Mrpl44 T A 1: 79,779,649 (GRCm38) Y270* probably null Het
Mtss1 A G 15: 58,953,536 (GRCm38) S272P probably damaging Het
Myo9b G A 8: 71,334,337 (GRCm38) R721Q probably benign Het
N4bp1 C T 8: 86,860,556 (GRCm38) D585N probably damaging Het
Napb T C 2: 148,703,057 (GRCm38) probably null Het
Nexmif A T X: 104,087,607 (GRCm38) Y235N probably damaging Het
Nms T C 1: 38,946,994 (GRCm38) probably benign Het
Nsun2 A G 13: 69,612,337 (GRCm38) N45D probably damaging Het
Olfr1221 T A 2: 89,112,042 (GRCm38) I157L possibly damaging Het
Pak6 C T 2: 118,693,440 (GRCm38) Q359* probably null Het
Pcdhb12 C T 18: 37,436,074 (GRCm38) A91V probably benign Het
Pde11a T A 2: 76,291,166 (GRCm38) K357I probably damaging Het
Piwil4 T C 9: 14,725,963 (GRCm38) T352A probably damaging Het
Sec31a T A 5: 100,382,907 (GRCm38) D239V probably damaging Het
Slc13a4 T C 6: 35,268,910 (GRCm38) N600S possibly damaging Het
Smc1b T A 15: 85,117,263 (GRCm38) probably benign Het
Spatc1 A T 15: 76,268,295 (GRCm38) K42* probably null Het
Sprr2j-ps A G 3: 92,418,983 (GRCm38) H55R probably benign Het
Srsf9 A G 5: 115,327,328 (GRCm38) D7G probably benign Het
Stt3a T C 9: 36,759,322 (GRCm38) Y51C probably damaging Het
Taf5 A G 19: 47,078,785 (GRCm38) K519E probably damaging Het
Taf7l A T X: 134,464,325 (GRCm38) I449K probably damaging Het
Tnk1 C A 11: 69,855,599 (GRCm38) D263Y probably damaging Het
Ttc21b T A 2: 66,224,144 (GRCm38) I714F probably benign Het
Ttn C G 2: 76,799,244 (GRCm38) W14284C probably damaging Het
Txn1 T C 4: 57,950,846 (GRCm38) D61G probably benign Het
Ugcg T C 4: 59,211,883 (GRCm38) V83A probably benign Het
Ulk3 T C 9: 57,593,794 (GRCm38) V348A probably benign Het
Wdr93 A G 7: 79,771,585 (GRCm38) T409A possibly damaging Het
Wfikkn1 A G 17: 25,878,718 (GRCm38) C211R probably damaging Het
Zap70 T C 1: 36,781,412 (GRCm38) C563R probably damaging Het
Zc3h12c C T 9: 52,115,956 (GRCm38) R721H probably benign Het
Zfp169 A G 13: 48,506,901 (GRCm38) probably benign Het
Other mutations in Blm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Blm APN 7 80,474,071 (GRCm38) missense probably damaging 1.00
IGL01658:Blm APN 7 80,463,941 (GRCm38) missense probably damaging 0.98
IGL02048:Blm APN 7 80,502,961 (GRCm38) splice site probably benign
IGL02060:Blm APN 7 80,514,580 (GRCm38) splice site probably benign
IGL02063:Blm APN 7 80,509,419 (GRCm38) nonsense probably null
IGL02102:Blm APN 7 80,469,756 (GRCm38) missense probably damaging 1.00
IGL02420:Blm APN 7 80,496,006 (GRCm38) missense probably damaging 1.00
IGL02452:Blm APN 7 80,503,377 (GRCm38) splice site probably null
IGL02566:Blm APN 7 80,474,196 (GRCm38) missense probably damaging 1.00
IGL03387:Blm APN 7 80,494,147 (GRCm38) missense probably damaging 1.00
FR4304:Blm UTSW 7 80,512,919 (GRCm38) small insertion probably benign
FR4304:Blm UTSW 7 80,463,773 (GRCm38) frame shift probably null
FR4340:Blm UTSW 7 80,512,910 (GRCm38) small insertion probably benign
FR4340:Blm UTSW 7 80,512,907 (GRCm38) small insertion probably benign
FR4340:Blm UTSW 7 80,463,767 (GRCm38) unclassified probably benign
FR4449:Blm UTSW 7 80,512,908 (GRCm38) small insertion probably benign
FR4548:Blm UTSW 7 80,463,769 (GRCm38) frame shift probably null
FR4589:Blm UTSW 7 80,463,770 (GRCm38) frame shift probably null
FR4737:Blm UTSW 7 80,463,774 (GRCm38) frame shift probably null
FR4737:Blm UTSW 7 80,463,771 (GRCm38) frame shift probably null
FR4976:Blm UTSW 7 80,512,907 (GRCm38) small insertion probably benign
FR4976:Blm UTSW 7 80,463,767 (GRCm38) unclassified probably benign
R0133:Blm UTSW 7 80,502,367 (GRCm38) missense possibly damaging 0.93
R0194:Blm UTSW 7 80,464,946 (GRCm38) unclassified probably benign
R0526:Blm UTSW 7 80,505,893 (GRCm38) nonsense probably null
R0673:Blm UTSW 7 80,499,751 (GRCm38) critical splice donor site probably null
R0972:Blm UTSW 7 80,513,370 (GRCm38) missense probably benign
R0980:Blm UTSW 7 80,499,958 (GRCm38) splice site probably null
R1120:Blm UTSW 7 80,481,466 (GRCm38) missense probably damaging 1.00
R1301:Blm UTSW 7 80,455,417 (GRCm38) nonsense probably null
R1769:Blm UTSW 7 80,513,370 (GRCm38) missense probably benign
R1866:Blm UTSW 7 80,494,114 (GRCm38) missense probably benign 0.08
R1874:Blm UTSW 7 80,497,418 (GRCm38) missense probably damaging 1.00
R1966:Blm UTSW 7 80,513,186 (GRCm38) missense possibly damaging 0.86
R1991:Blm UTSW 7 80,505,949 (GRCm38) splice site probably null
R2013:Blm UTSW 7 80,502,399 (GRCm38) missense probably damaging 0.99
R2014:Blm UTSW 7 80,502,399 (GRCm38) missense probably damaging 0.99
R2015:Blm UTSW 7 80,502,399 (GRCm38) missense probably damaging 0.99
R2016:Blm UTSW 7 80,505,926 (GRCm38) missense probably benign 0.26
R2103:Blm UTSW 7 80,505,949 (GRCm38) splice site probably null
R2161:Blm UTSW 7 80,481,370 (GRCm38) splice site probably null
R2215:Blm UTSW 7 80,499,847 (GRCm38) missense possibly damaging 0.69
R4049:Blm UTSW 7 80,502,862 (GRCm38) missense probably benign 0.04
R4155:Blm UTSW 7 80,512,904 (GRCm38) small deletion probably benign
R4695:Blm UTSW 7 80,494,228 (GRCm38) missense probably damaging 1.00
R4774:Blm UTSW 7 80,463,848 (GRCm38) missense probably damaging 1.00
R4833:Blm UTSW 7 80,466,826 (GRCm38) missense probably benign
R4835:Blm UTSW 7 80,509,546 (GRCm38) missense probably benign 0.41
R4994:Blm UTSW 7 80,458,825 (GRCm38) missense probably benign 0.00
R5039:Blm UTSW 7 80,505,873 (GRCm38) missense possibly damaging 0.50
R5330:Blm UTSW 7 80,458,936 (GRCm38) missense possibly damaging 0.73
R5375:Blm UTSW 7 80,513,229 (GRCm38) missense probably benign 0.00
R5408:Blm UTSW 7 80,502,622 (GRCm38) missense probably benign 0.01
R5574:Blm UTSW 7 80,499,773 (GRCm38) missense probably damaging 1.00
R5606:Blm UTSW 7 80,460,832 (GRCm38) splice site probably null
R5702:Blm UTSW 7 80,458,927 (GRCm38) missense probably benign 0.13
R5809:Blm UTSW 7 80,464,844 (GRCm38) missense probably damaging 1.00
R6114:Blm UTSW 7 80,513,487 (GRCm38) missense probably damaging 1.00
R6157:Blm UTSW 7 80,512,985 (GRCm38) missense probably benign 0.18
R6163:Blm UTSW 7 80,512,904 (GRCm38) small deletion probably benign
R6254:Blm UTSW 7 80,480,342 (GRCm38) missense probably benign 0.04
R6266:Blm UTSW 7 80,499,940 (GRCm38) missense probably benign 0.03
R6364:Blm UTSW 7 80,494,526 (GRCm38) nonsense probably null
R6446:Blm UTSW 7 80,512,904 (GRCm38) small deletion probably benign
R6502:Blm UTSW 7 80,481,475 (GRCm38) missense probably damaging 0.98
R6700:Blm UTSW 7 80,463,850 (GRCm38) missense possibly damaging 0.91
R7002:Blm UTSW 7 80,469,753 (GRCm38) missense probably benign 0.00
R7105:Blm UTSW 7 80,499,768 (GRCm38) missense probably benign 0.44
R7320:Blm UTSW 7 80,455,354 (GRCm38) nonsense probably null
R7465:Blm UTSW 7 80,513,115 (GRCm38) missense probably benign 0.02
R7561:Blm UTSW 7 80,502,528 (GRCm38) missense probably damaging 0.99
R8500:Blm UTSW 7 80,455,284 (GRCm38) missense probably damaging 1.00
R8543:Blm UTSW 7 80,494,216 (GRCm38) missense probably damaging 0.98
R8774-TAIL:Blm UTSW 7 80,512,907 (GRCm38) small insertion probably benign
R8774-TAIL:Blm UTSW 7 80,512,918 (GRCm38) small insertion probably benign
R8774-TAIL:Blm UTSW 7 80,512,919 (GRCm38) small insertion probably benign
R8775-TAIL:Blm UTSW 7 80,512,931 (GRCm38) small insertion probably benign
R8860:Blm UTSW 7 80,494,528 (GRCm38) missense probably benign 0.30
R8928:Blm UTSW 7 80,512,904 (GRCm38) small deletion probably benign
R9089:Blm UTSW 7 80,513,119 (GRCm38) missense probably damaging 1.00
R9363:Blm UTSW 7 80,458,915 (GRCm38) missense probably damaging 1.00
RF001:Blm UTSW 7 80,512,927 (GRCm38) small insertion probably benign
RF001:Blm UTSW 7 80,512,906 (GRCm38) small insertion probably benign
RF001:Blm UTSW 7 80,512,903 (GRCm38) small insertion probably benign
RF002:Blm UTSW 7 80,512,927 (GRCm38) small insertion probably benign
RF002:Blm UTSW 7 80,512,905 (GRCm38) small insertion probably benign
RF007:Blm UTSW 7 80,512,933 (GRCm38) nonsense probably null
RF016:Blm UTSW 7 80,512,926 (GRCm38) nonsense probably null
RF018:Blm UTSW 7 80,512,926 (GRCm38) nonsense probably null
RF027:Blm UTSW 7 80,512,914 (GRCm38) frame shift probably null
RF028:Blm UTSW 7 80,512,905 (GRCm38) nonsense probably null
RF031:Blm UTSW 7 80,512,923 (GRCm38) small insertion probably benign
RF031:Blm UTSW 7 80,512,906 (GRCm38) small insertion probably benign
RF032:Blm UTSW 7 80,512,930 (GRCm38) small insertion probably benign
RF036:Blm UTSW 7 80,512,914 (GRCm38) nonsense probably null
RF044:Blm UTSW 7 80,512,930 (GRCm38) small insertion probably benign
RF053:Blm UTSW 7 80,512,921 (GRCm38) small insertion probably benign
RF064:Blm UTSW 7 80,512,923 (GRCm38) nonsense probably null
X0061:Blm UTSW 7 80,458,850 (GRCm38) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TGTCAATGCAGATCACATCCC -3'
(R):5'- GTACAGACTGCTCAGGACAC -3'

Sequencing Primer
(F):5'- GCAGATCACATCCCTGCTCAG -3'
(R):5'- TACAGACTGCTCAGGACACTTTGTG -3'
Posted On 2015-02-19