Incidental Mutation 'R5809:Blm'
ID 448912
Institutional Source Beutler Lab
Gene Symbol Blm
Ensembl Gene ENSMUSG00000030528
Gene Name Bloom syndrome, RecQ like helicase
Synonyms
MMRRC Submission 043394-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5809 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80104741-80184896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80114592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1159 (L1159Q)
Ref Sequence ENSEMBL: ENSMUSP00000127995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081314] [ENSMUST00000170315]
AlphaFold O88700
Predicted Effect probably damaging
Transcript: ENSMUST00000081314
AA Change: L1156Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: L1156Q

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 damaging
Transcript: ENSMUST00000170315
AA Change: L1159Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: L1159Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205713
Predicted Effect probably benign
Transcript: ENSMUST00000205730
Predicted Effect probably benign
Transcript: ENSMUST00000206901
Predicted Effect probably benign
Transcript: ENSMUST00000206989
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 99% (77/78)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A G 8: 12,329,556 (GRCm39) S4G unknown Het
AA623943 T C 11: 94,703,828 (GRCm39) noncoding transcript Het
Abca13 T A 11: 9,243,692 (GRCm39) S1852T probably damaging Het
Ackr2 G A 9: 121,738,540 (GRCm39) C305Y probably damaging Het
Aebp1 T C 11: 5,820,257 (GRCm39) V411A probably benign Het
Akp3 G A 1: 87,054,270 (GRCm39) R269H probably benign Het
Alox15 C A 11: 70,241,708 (GRCm39) G58W probably damaging Het
Ankle2 A G 5: 110,385,856 (GRCm39) N369S probably damaging Het
Ankrd28 T A 14: 31,465,311 (GRCm39) I289L probably benign Het
Atp13a4 T A 16: 29,252,805 (GRCm39) T714S possibly damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Caskin1 G A 17: 24,723,521 (GRCm39) V770I probably benign Het
Ccdc148 T A 2: 58,713,657 (GRCm39) H498L probably damaging Het
Cdh26 T A 2: 178,101,919 (GRCm39) Y179* probably null Het
Cela2a T A 4: 141,552,864 (GRCm39) T38S probably benign Het
Cep350 A T 1: 155,809,087 (GRCm39) N496K probably damaging Het
Cep89 A G 7: 35,117,151 (GRCm39) Y251C probably damaging Het
Cluh T C 11: 74,552,526 (GRCm39) S524P probably damaging Het
Cpeb4 T C 11: 31,822,801 (GRCm39) S172P probably damaging Het
Ctnnd2 T C 15: 30,847,523 (GRCm39) S705P probably damaging Het
Dock2 T G 11: 34,212,445 (GRCm39) D1232A probably benign Het
Donson T C 16: 91,484,738 (GRCm39) N9S possibly damaging Het
Gdf9 T C 11: 53,324,381 (GRCm39) L50P probably benign Het
Gm10300 C T 4: 131,802,458 (GRCm39) probably benign Het
Gm8369 A G 19: 11,482,248 (GRCm39) probably benign Het
Gm8674 T A 13: 50,055,924 (GRCm39) noncoding transcript Het
Hepacam T A 9: 37,296,101 (GRCm39) S417R possibly damaging Het
Hibch T A 1: 52,892,859 (GRCm39) L23Q probably benign Het
Hmcn1 G A 1: 150,525,358 (GRCm39) R3389C probably damaging Het
Hsp90ab1 G T 17: 45,881,575 (GRCm39) probably benign Het
Hunk C A 16: 90,272,791 (GRCm39) T365K probably damaging Het
Il12a A T 3: 68,602,595 (GRCm39) probably benign Het
Ints13 A G 6: 146,477,847 (GRCm39) V34A probably benign Het
Intu A C 3: 40,634,020 (GRCm39) M418L probably damaging Het
Khdc4 A G 3: 88,616,192 (GRCm39) R460G probably damaging Het
Klra9 A G 6: 130,156,036 (GRCm39) S240P probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ndrg1 A G 15: 66,802,699 (GRCm39) probably benign Het
Or11g24 T C 14: 50,662,905 (GRCm39) *310Q probably null Het
Or5k17 T C 16: 58,746,860 (GRCm39) T25A probably benign Het
Pate6 C T 9: 35,700,297 (GRCm39) C96Y probably damaging Het
Pax7 A G 4: 139,557,682 (GRCm39) S30P probably damaging Het
Pdcd11 A T 19: 47,082,247 (GRCm39) T54S probably benign Het
Pex19 T C 1: 171,958,306 (GRCm39) V95A probably damaging Het
Pkhd1l1 A G 15: 44,383,103 (GRCm39) I1121V probably benign Het
Pklr A T 3: 89,049,091 (GRCm39) I146F probably benign Het
Plcb1 T C 2: 135,104,164 (GRCm39) Y278H possibly damaging Het
Plcl1 T A 1: 55,735,160 (GRCm39) I167N probably damaging Het
Plekhh1 A T 12: 79,125,461 (GRCm39) I1241F probably benign Het
Plxnb2 G T 15: 89,051,774 (GRCm39) D148E possibly damaging Het
Pthlh T C 6: 147,158,745 (GRCm39) I72V probably damaging Het
Ptpru C T 4: 131,513,067 (GRCm39) R880Q probably benign Het
Rrp36 T C 17: 46,978,932 (GRCm39) K209E probably damaging Het
Scarb1 A G 5: 125,381,286 (GRCm39) V86A probably damaging Het
Sh2d7 A C 9: 54,446,860 (GRCm39) S37R probably benign Het
Slc13a2 A T 11: 78,288,647 (GRCm39) V543E probably damaging Het
Smarcal1 A G 1: 72,630,296 (GRCm39) T117A probably benign Het
Smok2a A G 17: 13,445,865 (GRCm39) R481G possibly damaging Het
Smr2 G A 5: 88,256,699 (GRCm39) A126T probably benign Het
Sspo G T 6: 48,436,979 (GRCm39) W1304C possibly damaging Het
Svep1 A G 4: 58,116,524 (GRCm39) S909P possibly damaging Het
Tchh A T 3: 93,352,880 (GRCm39) K773N unknown Het
Tmem156 T C 5: 65,232,950 (GRCm39) N140S possibly damaging Het
Tmem213 T C 6: 38,092,589 (GRCm39) I107T possibly damaging Het
Tpd52l2 A G 2: 181,153,372 (GRCm39) Y161C probably damaging Het
Trappc8 C T 18: 20,951,139 (GRCm39) A1436T probably benign Het
Ubr3 A G 2: 69,795,855 (GRCm39) Y933C possibly damaging Het
Ufm1 A T 3: 53,765,303 (GRCm39) probably benign Het
Wdr27 A T 17: 15,103,931 (GRCm39) L725Q probably damaging Het
Zdbf2 A G 1: 63,345,035 (GRCm39) D1138G possibly damaging Het
Zkscan16 G A 4: 58,946,481 (GRCm39) V119M probably damaging Het
Zmat5 A G 11: 4,672,431 (GRCm39) D16G probably damaging 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
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'- GCTCCAGAGGAAATGTGACTTTG -3'
(R):5'- GATCTCTTGTTTGTCCACAGATG -3'

Sequencing Primer
(F):5'- GTGACTTTGGAAGGATAACAAACTC -3'
(R):5'- GTCCACAGATGTCCTTGAATGGC -3'
Posted On 2016-12-15