Incidental Mutation 'R8774:Blm'
ID664603
Institutional Source Beutler Lab
Gene Symbol Blm
Ensembl Gene ENSMUSG00000030528
Gene NameBloom syndrome, RecQ like helicase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R8774 (G1)
Quality Score148.467
Status Not validated
Chromosome7
Chromosomal Location80454733-80535119 bp(-) (GRCm38)
Type of Mutationsmall insertion (1 aa in frame mutation)
DNA Base Change (assembly) TCCGCC to TCCGCCGCC at 80512901 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081314] [ENSMUST00000170315]
Predicted Effect probably benign
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 benign
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,087 L140P probably damaging Het
Abca1 A G 4: 53,090,358 S364P possibly damaging Het
Abcc2 T A 19: 43,799,138 Y208N probably damaging Het
Acy1 A T 9: 106,436,714 D82E probably damaging Het
Ankub1 A G 3: 57,690,381 L56P probably damaging Het
Aoc1 T A 6: 48,908,595 F678Y probably damaging Het
Asxl3 C A 18: 22,524,044 Q1704K probably damaging Het
Atg9b T C 5: 24,390,573 D236G probably damaging Het
Auh A T 13: 52,839,595 M261K probably benign Het
C2cd6 A T 1: 59,060,666 M372K possibly damaging Het
Ccdc88b A T 19: 6,847,722 N1287K probably damaging Het
Cebpz A G 17: 78,921,644 S958P probably benign Het
Cgn T A 3: 94,773,500 Q576L probably damaging Het
Chd7 T A 4: 8,854,692 M2011K probably damaging Het
Cntnap4 A G 8: 112,803,188 E676G probably benign Het
Cspp1 A T 1: 10,112,914 E781D possibly damaging Het
Cyb5d2 A C 11: 72,789,075 probably null Het
Epn3 G T 11: 94,492,394 P335T possibly damaging Het
Fam160a1 G C 3: 85,672,790 Q703E probably benign Het
Far2 T A 6: 148,146,131 S103T probably benign Het
Fhl2 A G 1: 43,123,591 S255P probably damaging Het
Fmnl2 T A 2: 53,042,309 V100D Het
Gabbr1 T C 17: 37,071,857 L814P probably damaging Het
Gzmg C T 14: 56,156,736 V234I probably benign Het
Ift172 A G 5: 31,257,863 V1334A probably benign Het
Itga8 C G 2: 12,182,684 G728A probably damaging Het
Klrg1 T C 6: 122,278,234 T80A probably benign Het
Lrp4 A G 2: 91,477,698 N496S probably benign Het
Lsmem1 G T 12: 40,177,146 N113K probably damaging Het
Map3k2 G A 18: 32,212,064 S314N probably damaging Het
Mtpap C T 18: 4,387,032 R361* probably null Het
Muc5b T A 7: 141,865,094 S3926T probably benign Het
Nat10 C A 2: 103,731,407 R643L probably damaging Het
Ncbp3 T C 11: 73,047,982 V28A probably benign Het
Nlrp9a T C 7: 26,558,559 L534P possibly damaging Het
Nmi T C 2: 51,958,962 K39E probably benign Het
Nxpe4 A G 9: 48,393,392 N260D probably benign Het
Olfr1282 T C 2: 111,335,973 Y35C probably damaging Het
Olfr612 C A 7: 103,538,758 V159L probably benign Het
Olfr806 T A 10: 129,738,057 I287F probably damaging Het
Olfr897-ps1 G A 9: 38,309,304 A170T unknown Het
Pirb G T 7: 3,717,729 L257M probably damaging Het
Plcg2 A T 8: 117,579,846 D313V possibly damaging Het
Ppard G A 17: 28,298,890 V311I possibly damaging Het
Ptcd1 A T 5: 145,155,365 M308K probably damaging Het
Pygo1 A G 9: 72,945,154 N208D possibly damaging Het
Robo1 T G 16: 73,035,831 D1497E probably benign Het
Sdk2 T C 11: 113,839,343 D1022G probably damaging Het
Shc3 G A 13: 51,461,439 H161Y probably damaging Het
Slc15a1 G T 14: 121,487,011 Q150K probably damaging Het
Sod1 T G 16: 90,226,151 V120G probably damaging Het
Sprr2f T A 3: 92,366,016 C41S unknown Het
Svil A T 18: 5,049,068 Y115F probably damaging Het
Tdp1 T C 12: 99,911,658 S400P probably damaging Het
Thbs4 A T 13: 92,761,522 D596E probably damaging Het
Tshz1 T A 18: 84,014,976 M436L possibly damaging Het
Ube3c C T 5: 29,607,031 T423I probably benign Het
Unc93a A T 17: 13,122,950 I98N probably damaging Het
Usp33 T A 3: 152,379,576 Y624* probably null Het
Vmn1r217 T A 13: 23,113,938 M265L probably benign Het
Vmn1r222 A T 13: 23,232,248 M265K probably benign Het
Vmn2r16 C T 5: 109,340,365 T368M probably benign Het
Zfp867 A G 11: 59,464,011 F164S probably damaging Het
Zswim1 C T 2: 164,826,142 T438I probably benign Het
Other mutations in Blm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Blm APN 7 80474071 missense probably damaging 1.00
IGL01658:Blm APN 7 80463941 missense probably damaging 0.98
IGL02048:Blm APN 7 80502961 splice site probably benign
IGL02060:Blm APN 7 80514580 splice site probably benign
IGL02063:Blm APN 7 80509419 nonsense probably null
IGL02102:Blm APN 7 80469756 missense probably damaging 1.00
IGL02420:Blm APN 7 80496006 missense probably damaging 1.00
IGL02452:Blm APN 7 80503377 splice site probably null
IGL02566:Blm APN 7 80474196 missense probably damaging 1.00
IGL03387:Blm APN 7 80494147 missense probably damaging 1.00
FR4304:Blm UTSW 7 80463773 frame shift probably null
FR4304:Blm UTSW 7 80512919 small insertion probably benign
FR4340:Blm UTSW 7 80463767 unclassified probably benign
FR4340:Blm UTSW 7 80512907 small insertion probably benign
FR4340:Blm UTSW 7 80512910 small insertion probably benign
FR4449:Blm UTSW 7 80512908 small insertion probably benign
FR4548:Blm UTSW 7 80463769 frame shift probably null
FR4589:Blm UTSW 7 80463770 frame shift probably null
FR4737:Blm UTSW 7 80463771 frame shift probably null
FR4737:Blm UTSW 7 80463774 frame shift probably null
FR4976:Blm UTSW 7 80463767 unclassified probably benign
FR4976:Blm UTSW 7 80512907 small insertion probably benign
R0133:Blm UTSW 7 80502367 missense possibly damaging 0.93
R0194:Blm UTSW 7 80464946 unclassified probably benign
R0526:Blm UTSW 7 80505893 nonsense probably null
R0673:Blm UTSW 7 80499751 critical splice donor site probably null
R0972:Blm UTSW 7 80513370 missense probably benign
R0980:Blm UTSW 7 80499958 splice site probably null
R1120:Blm UTSW 7 80481466 missense probably damaging 1.00
R1301:Blm UTSW 7 80455417 nonsense probably null
R1769:Blm UTSW 7 80513370 missense probably benign
R1866:Blm UTSW 7 80494114 missense probably benign 0.08
R1874:Blm UTSW 7 80497418 missense probably damaging 1.00
R1966:Blm UTSW 7 80513186 missense possibly damaging 0.86
R1991:Blm UTSW 7 80505949 splice site probably null
R2013:Blm UTSW 7 80502399 missense probably damaging 0.99
R2014:Blm UTSW 7 80502399 missense probably damaging 0.99
R2015:Blm UTSW 7 80502399 missense probably damaging 0.99
R2016:Blm UTSW 7 80505926 missense probably benign 0.26
R2103:Blm UTSW 7 80505949 splice site probably null
R2161:Blm UTSW 7 80481370 splice site probably null
R2215:Blm UTSW 7 80499847 missense possibly damaging 0.69
R3689:Blm UTSW 7 80513079 missense possibly damaging 0.56
R4049:Blm UTSW 7 80502862 missense probably benign 0.04
R4155:Blm UTSW 7 80512904 small deletion probably benign
R4695:Blm UTSW 7 80494228 missense probably damaging 1.00
R4774:Blm UTSW 7 80463848 missense probably damaging 1.00
R4833:Blm UTSW 7 80466826 missense probably benign
R4835:Blm UTSW 7 80509546 missense probably benign 0.41
R4994:Blm UTSW 7 80458825 missense probably benign 0.00
R5039:Blm UTSW 7 80505873 missense possibly damaging 0.50
R5330:Blm UTSW 7 80458936 missense possibly damaging 0.73
R5375:Blm UTSW 7 80513229 missense probably benign 0.00
R5408:Blm UTSW 7 80502622 missense probably benign 0.01
R5574:Blm UTSW 7 80499773 missense probably damaging 1.00
R5606:Blm UTSW 7 80460832 splice site probably null
R5702:Blm UTSW 7 80458927 missense probably benign 0.13
R5809:Blm UTSW 7 80464844 missense probably damaging 1.00
R6114:Blm UTSW 7 80513487 missense probably damaging 1.00
R6157:Blm UTSW 7 80512985 missense probably benign 0.18
R6163:Blm UTSW 7 80512904 small deletion probably benign
R6254:Blm UTSW 7 80480342 missense probably benign 0.04
R6266:Blm UTSW 7 80499940 missense probably benign 0.03
R6364:Blm UTSW 7 80494526 nonsense probably null
R6446:Blm UTSW 7 80512904 small deletion probably benign
R6502:Blm UTSW 7 80481475 missense probably damaging 0.98
R6700:Blm UTSW 7 80463850 missense possibly damaging 0.91
R7002:Blm UTSW 7 80469753 missense probably benign 0.00
R7105:Blm UTSW 7 80499768 missense probably benign 0.44
R7320:Blm UTSW 7 80455354 nonsense probably null
R7465:Blm UTSW 7 80513115 missense probably benign 0.02
R7561:Blm UTSW 7 80502528 missense probably damaging 0.99
R8500:Blm UTSW 7 80455284 missense probably damaging 1.00
R8543:Blm UTSW 7 80494216 missense probably damaging 0.98
R8749:Blm UTSW 7 80512901 small insertion probably benign
R8774:Blm UTSW 7 80512910 small insertion probably benign
R8774-TAIL:Blm UTSW 7 80512907 small insertion probably benign
R8774-TAIL:Blm UTSW 7 80512918 small insertion probably benign
R8774-TAIL:Blm UTSW 7 80512919 small insertion probably benign
R8775-TAIL:Blm UTSW 7 80512931 small insertion probably benign
RF001:Blm UTSW 7 80512903 small insertion probably benign
RF001:Blm UTSW 7 80512906 small insertion probably benign
RF001:Blm UTSW 7 80512927 small insertion probably benign
RF002:Blm UTSW 7 80512905 small insertion probably benign
RF002:Blm UTSW 7 80512927 small insertion probably benign
RF007:Blm UTSW 7 80512933 nonsense probably null
RF016:Blm UTSW 7 80512926 nonsense probably null
RF018:Blm UTSW 7 80512926 nonsense probably null
RF027:Blm UTSW 7 80512914 frame shift probably null
RF028:Blm UTSW 7 80512905 nonsense probably null
RF031:Blm UTSW 7 80512906 small insertion probably benign
RF031:Blm UTSW 7 80512923 small insertion probably benign
RF032:Blm UTSW 7 80512930 small insertion probably benign
RF036:Blm UTSW 7 80512914 nonsense probably null
RF044:Blm UTSW 7 80512930 small insertion probably benign
RF053:Blm UTSW 7 80512921 small insertion probably benign
RF064:Blm UTSW 7 80512923 nonsense probably null
X0061:Blm UTSW 7 80458850 missense possibly damaging 0.89
Predicted Primers
Posted On2021-03-08