Incidental Mutation 'R4994:Blm'
ID 385097
Institutional Source Beutler Lab
Gene Symbol Blm
Ensembl Gene ENSMUSG00000030528
Gene Name Bloom syndrome, RecQ like helicase
Synonyms
MMRRC Submission 042588-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4994 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80104741-80184896 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 80108573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 1357 (F1357C)
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: F1354C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: F1354C

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: F1357C

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: F1357C

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: ENSMUST00000206518
Predicted Effect unknown
Transcript: ENSMUST00000206901
AA Change: F92C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206948
Predicted Effect probably benign
Transcript: ENSMUST00000206989
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (79/79)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,208,962 (GRCm39) E364G probably benign Het
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abcb4 A G 5: 8,978,524 (GRCm39) T557A probably damaging Het
Acadm C T 3: 153,635,221 (GRCm39) E298K probably damaging Het
Adrb3 T C 8: 27,717,855 (GRCm39) probably null Het
Aldh1b1 A G 4: 45,803,128 (GRCm39) Y222C possibly damaging Het
Ankrd6 A G 4: 32,860,387 (GRCm39) Y19H probably damaging Het
Arhgap21 T A 2: 20,854,701 (GRCm39) T1554S probably benign Het
BC043934 T C 9: 96,319,173 (GRCm39) noncoding transcript Het
Birc6 A G 17: 74,901,319 (GRCm39) probably benign Het
Cd209a T C 8: 3,797,713 (GRCm39) probably null Het
Cdk7 G A 13: 100,854,103 (GRCm39) H129Y probably damaging Het
Clec14a G T 12: 58,315,070 (GRCm39) P184Q probably damaging Het
Cma1 T A 14: 56,179,128 (GRCm39) I243F probably damaging Het
Cntnap3 G T 13: 64,909,798 (GRCm39) T769K possibly damaging Het
Col5a1 A C 2: 27,922,751 (GRCm39) K273T possibly damaging Het
Csnk1e A G 15: 79,309,129 (GRCm39) Y266H probably damaging Het
Cyb5d1 A G 11: 69,284,597 (GRCm39) L185S probably damaging Het
Dennd5b T C 6: 148,942,998 (GRCm39) probably null Het
Dipk2a C A 9: 94,419,486 (GRCm39) R148L probably benign Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Dzank1 T G 2: 144,364,486 (GRCm39) D37A probably damaging Het
Echdc2 A G 4: 108,022,825 (GRCm39) I34V probably benign Het
Esm1 A T 13: 113,349,965 (GRCm39) R128S probably benign Het
Fbh1 T A 2: 11,769,041 (GRCm39) I251F probably damaging Het
Fbrsl1 A G 5: 110,595,817 (GRCm39) S73P probably damaging Het
Fbxo6 A T 4: 148,233,948 (GRCm39) S49R probably damaging Het
Gm17093 A T 14: 44,756,779 (GRCm39) Q82L probably damaging Het
Hmcn2 T C 2: 31,348,067 (GRCm39) probably null Het
Hspa4l C A 3: 40,700,081 (GRCm39) probably benign Het
Il3ra G A 14: 14,351,080 (GRCm38) A201T probably benign Het
Irx5 T A 8: 93,087,409 (GRCm39) V447E probably damaging Het
Kif14 G T 1: 136,410,697 (GRCm39) L668F probably damaging Het
Lag3 T A 6: 124,881,416 (GRCm39) R519W unknown Het
Lgr4 A G 2: 109,842,283 (GRCm39) N756S probably damaging Het
Lingo4 A G 3: 94,309,848 (GRCm39) H262R probably benign Het
Lingo4 T A 3: 94,310,308 (GRCm39) H415Q probably benign Het
Lkaaear1 C A 2: 181,339,376 (GRCm39) G25* probably null Het
Maco1 A G 4: 134,555,610 (GRCm39) Y288H probably damaging Het
Marf1 T C 16: 13,932,095 (GRCm39) K1641E probably benign Het
Mtfmt T C 9: 65,351,133 (GRCm39) probably benign Het
Mtif3 G A 5: 146,893,598 (GRCm39) T203M probably benign Het
Mycbp2 A G 14: 103,407,430 (GRCm39) I2740T probably benign Het
Nrdc A G 4: 108,903,809 (GRCm39) T720A probably benign Het
Or2d2 T C 7: 106,728,271 (GRCm39) T110A probably benign Het
Peak1 T A 9: 56,148,560 (GRCm39) D32V possibly damaging Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Plekhg3 A G 12: 76,612,311 (GRCm39) R391G possibly damaging Het
Ppfia3 T C 7: 44,990,542 (GRCm39) D919G probably damaging Het
Pramel23 T A 4: 143,424,939 (GRCm39) Q168L possibly damaging Het
Rnase2b T A 14: 51,400,208 (GRCm39) D96E possibly damaging Het
Rsf1 CGGCGGC CGGCGGCCGCGGCGGC 7: 97,229,130 (GRCm39) probably benign Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Serpina3f A G 12: 104,186,615 (GRCm39) T394A probably benign Het
Six3 A G 17: 85,928,720 (GRCm39) N18S possibly damaging Het
Slc12a5 T A 2: 164,825,285 (GRCm39) probably null Het
Slc35f6 A G 5: 30,805,427 (GRCm39) N21S probably damaging Het
Slc39a6 A T 18: 24,729,351 (GRCm39) I454N probably damaging Het
Slc40a1 T A 1: 45,948,824 (GRCm39) E485D probably damaging Het
Sort1 G A 3: 108,235,385 (GRCm39) C255Y probably damaging Het
Stab2 T A 10: 86,785,771 (GRCm39) T624S probably benign Het
Stk33 T A 7: 108,939,605 (GRCm39) I99L probably benign Het
Taf4b T A 18: 15,031,100 (GRCm39) I828N probably damaging Het
Terf2 T C 8: 107,803,110 (GRCm39) probably benign Het
Timd4 C T 11: 46,706,344 (GRCm39) R49C probably damaging Het
Tpte T C 8: 22,808,362 (GRCm39) S166P probably benign Het
Trabd2b T C 4: 114,264,052 (GRCm39) L13P probably benign Het
Trappc11 A T 8: 47,975,476 (GRCm39) Y247* probably null Het
Trnt1 C T 6: 106,755,853 (GRCm39) Q303* probably null Het
Tspyl5 T A 15: 33,687,201 (GRCm39) Q248L possibly damaging Het
Ubxn7 A T 16: 32,200,322 (GRCm39) K337N probably damaging Het
Unc13a T A 8: 72,095,816 (GRCm39) I1234F probably benign Het
Vmn1r127 A T 7: 21,052,943 (GRCm39) F282I probably damaging Het
Wdhd1 A T 14: 47,506,111 (GRCm39) probably null Het
Zfp605 A G 5: 110,275,352 (GRCm39) K157E probably damaging Het
Zhx2 T A 15: 57,684,755 (GRCm39) D41E 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
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'- ACGGCCGTGTTATTTACTCAG -3'
(R):5'- TGTAGCTGAGGATGGTTCCC -3'

Sequencing Primer
(F):5'- TCCAAGGTAAAGTCAAAGTTTGAG -3'
(R):5'- TGAGGATGGTTCCCCAGGC -3'
Posted On 2016-05-10