Incidental Mutation 'R7105:Blm'
ID 551111
Institutional Source Beutler Lab
Gene Symbol Blm
Ensembl Gene ENSMUSG00000030528
Gene Name Bloom syndrome, RecQ like helicase
Synonyms
MMRRC Submission 045197-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7105 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 80104741-80184896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80149516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 698 (I698V)
Ref Sequence ENSEMBL: ENSMUSP00000127995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081314] [ENSMUST00000170315]
AlphaFold O88700
Predicted Effect probably benign
Transcript: ENSMUST00000081314
AA Change: I695V

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: I695V

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
AA Change: I698V

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: I698V

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
Meta Mutation Damage Score 0.0908 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (65/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,347,842 (GRCm39) I3565N probably damaging Het
Adam8 T C 7: 139,569,968 (GRCm39) E99G probably benign Het
Adnp2 A C 18: 80,171,366 (GRCm39) H1014Q possibly damaging Het
Agbl4 T A 4: 111,423,920 (GRCm39) N315K probably benign Het
Ankrd33b G T 15: 31,305,214 (GRCm39) N183K probably damaging Het
Arhgef39 A G 4: 43,498,913 (GRCm39) S113P possibly damaging Het
Bdp1 G A 13: 100,206,689 (GRCm39) P618S probably damaging Het
Bhlhe40 C T 6: 108,641,997 (GRCm39) P314S possibly damaging Het
Birc2 A C 9: 7,819,442 (GRCm39) I490S probably damaging Het
C4b G A 17: 34,949,885 (GRCm39) T1433M possibly damaging Het
Car12 A G 9: 66,659,688 (GRCm39) T238A probably damaging Het
Cend1 G A 7: 141,007,565 (GRCm39) P85L probably benign Het
Cftr A T 6: 18,318,971 (GRCm39) D1337V probably damaging Het
Chsy3 T A 18: 59,309,491 (GRCm39) M248K probably damaging Het
Chtf8 A G 8: 107,611,883 (GRCm39) F352S probably damaging Het
Cimip4 T A 15: 78,270,318 (GRCm39) D150V possibly damaging Het
Csf2ra T C 19: 61,213,458 (GRCm39) D384G possibly damaging Het
Ctnnbip1 T C 4: 149,630,937 (GRCm39) S59P probably benign Het
Cyth3 A G 5: 143,693,027 (GRCm39) N312D probably benign Het
Dtnb T C 12: 3,698,391 (GRCm39) probably null Het
Duox2 A G 2: 122,120,033 (GRCm39) S826P possibly damaging Het
Enthd1 C T 15: 80,393,410 (GRCm39) A273T probably benign Het
Gm3138 T C 14: 15,632,304 (GRCm39) V159A possibly damaging Het
Hhip T C 8: 80,701,638 (GRCm39) D632G probably benign Het
Igfn1 A T 1: 135,911,956 (GRCm39) C114S probably benign Het
Islr2 T C 9: 58,105,097 (GRCm39) D765G probably damaging Het
Klf14 TCCCC TCCC 6: 30,935,476 (GRCm39) probably null Het
Mapk12 G A 15: 89,015,361 (GRCm39) P362L probably benign Het
Msi1 T G 5: 115,571,929 (GRCm39) F96V probably damaging Het
Mthfd1l T C 10: 4,053,261 (GRCm39) V870A probably benign Het
Nfat5 T C 8: 108,095,823 (GRCm39) S1355P possibly damaging Het
Oplah T C 15: 76,181,887 (GRCm39) N1079D probably damaging Het
Or2ah1 G T 2: 85,654,224 (GRCm39) R303M probably benign Het
Osbpl1a T A 18: 12,900,020 (GRCm39) I645F probably benign Het
Pank4 T C 4: 155,064,624 (GRCm39) S728P probably benign Het
Parp2 TTGCCATAAGTGCTAAATGAAGCC T 14: 51,047,521 (GRCm39) probably null Het
Piezo1 A G 8: 123,208,857 (GRCm39) I2503T unknown Het
Plekhg6 A G 6: 125,355,768 (GRCm39) L12P probably damaging Het
Plekhs1 T A 19: 56,465,647 (GRCm39) F204Y probably damaging Het
Pramel26 T C 4: 143,537,341 (GRCm39) N330S probably benign Het
Pramel32 G A 4: 88,548,339 (GRCm39) S22F probably damaging Het
Prep T A 10: 45,002,159 (GRCm39) I438N probably benign Het
Prss58 T C 6: 40,874,700 (GRCm39) H47R probably damaging Het
Rad51ap2 T G 12: 11,508,278 (GRCm39) D733E possibly damaging Het
Robo1 A T 16: 72,539,049 (GRCm39) I31F probably damaging Het
Setd2 A G 9: 110,377,328 (GRCm39) Y381C probably damaging Het
Slc47a2 A G 11: 61,233,269 (GRCm39) V87A probably benign Het
Slc5a9 T C 4: 111,755,892 (GRCm39) N2S probably benign Het
Spata13 A G 14: 60,991,319 (GRCm39) D1024G probably damaging Het
Stat1 T G 1: 52,190,408 (GRCm39) N554K probably benign Het
Suclg2 T C 6: 95,572,635 (GRCm39) D110G possibly damaging Het
Sult1c2 T A 17: 54,280,917 (GRCm39) probably null Het
Taf5l A G 8: 124,729,951 (GRCm39) I246T probably damaging Het
Tcof1 A T 18: 60,976,368 (GRCm39) D80E probably damaging Het
Tmem233 T C 5: 116,221,057 (GRCm39) Y63C probably damaging Het
Tshz3 A G 7: 36,469,181 (GRCm39) E390G probably damaging Het
Ttn T C 2: 76,560,610 (GRCm39) T29264A possibly damaging Het
Ubr5 T C 15: 38,009,019 (GRCm39) T1065A Het
Vcp A G 4: 42,985,991 (GRCm39) V341A probably damaging Het
Vmn1r176 A T 7: 23,534,748 (GRCm39) L135* probably null Het
Vmn1r57 T A 7: 5,223,499 (GRCm39) I8N probably damaging Het
Ythdc2 C T 18: 44,967,630 (GRCm39) P209S probably damaging Het
Zfp213 A T 17: 23,777,178 (GRCm39) V288D probably benign Het
Zfp362 T C 4: 128,668,319 (GRCm39) I418V probably damaging Het
Zfp707 C A 15: 75,846,595 (GRCm39) T215K Het
Zfp957 G C 14: 79,450,402 (GRCm39) R466G 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
FR4589:Blm UTSW 7 80,113,518 (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
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'- CAGAGGCTGAGGTAACACAC -3'
(R):5'- GGCTAAACTATGTCACTGTGTTC -3'

Sequencing Primer
(F):5'- GAGGCTGAGGTAACACACTTTCTTAC -3'
(R):5'- TGTTGTAGATAAGCTGGCCC -3'
Posted On 2019-05-15