Incidental Mutation 'R4833:Blm'
ID 372988
Institutional Source Beutler Lab
Gene Symbol Blm
Ensembl Gene ENSMUSG00000030528
Gene Name Bloom syndrome, RecQ like helicase
Synonyms
MMRRC Submission 042449-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4833 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80454733-80535119 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80466826 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 1111 (I1111L)
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: I1108L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: I1108L

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: I1111L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: I1111L

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
Meta Mutation Damage Score 0.1207 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 99% (74/75)
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
1810055G02Rik C A 19: 3,716,872 (GRCm38) T153K possibly damaging Het
4932438A13Rik A G 3: 36,964,968 (GRCm38) I2007V probably damaging Het
Abca5 A C 11: 110,279,316 (GRCm38) Y1318D probably benign Het
Adam18 A G 8: 24,674,101 (GRCm38) I22T probably benign Het
Adgrv1 T A 13: 81,560,844 (GRCm38) H1147L possibly damaging Het
Ankrd2 T C 19: 42,043,857 (GRCm38) probably null Het
Bdkrb2 T C 12: 105,591,658 (GRCm38) W53R probably benign Het
Bmp3 T G 5: 98,855,207 (GRCm38) L32R probably damaging Het
Cdh23 T G 10: 60,385,038 (GRCm38) E1312A probably damaging Het
Ceacam5 C T 7: 17,752,258 (GRCm38) T560M probably benign Het
Cmtm8 C A 9: 114,796,165 (GRCm38) R66I probably benign Het
Cnbd1 A G 4: 18,862,120 (GRCm38) Y357H probably damaging Het
Col4a4 A T 1: 82,529,602 (GRCm38) V252E unknown Het
Col6a4 A T 9: 106,071,979 (GRCm38) M819K probably benign Het
Cwf19l2 T C 9: 3,430,783 (GRCm38) S372P probably benign Het
Daam2 A T 17: 49,490,145 (GRCm38) I204N possibly damaging Het
Dock6 T C 9: 21,844,280 (GRCm38) D216G probably damaging Het
Epha5 C T 5: 84,105,891 (GRCm38) D548N possibly damaging Het
Erich2 T C 2: 70,534,292 (GRCm38) Y311H possibly damaging Het
Gm3985 A G 8: 32,890,477 (GRCm38) noncoding transcript Het
Gnb1 A G 4: 155,543,067 (GRCm38) T102A possibly damaging Het
Hcfc2 C T 10: 82,709,146 (GRCm38) A204V probably null Het
Hnrnpu T C 1: 178,333,894 (GRCm38) probably benign Het
Htt A G 5: 34,852,225 (GRCm38) T1517A probably damaging Het
Klhl6 T A 16: 19,957,139 (GRCm38) D223V probably damaging Het
Kpna6 A G 4: 129,657,779 (GRCm38) S71P possibly damaging Het
Lama3 A G 18: 12,441,131 (GRCm38) D590G probably benign Het
Lipt1 T G 1: 37,875,529 (GRCm38) L222R probably damaging Het
Lrrc41 A G 4: 116,093,177 (GRCm38) probably benign Het
Lrrc59 T C 11: 94,634,672 (GRCm38) V98A probably benign Het
Mast4 A G 13: 102,774,184 (GRCm38) probably null Het
Mdc1 C T 17: 35,850,394 (GRCm38) S733F probably benign Het
Mknk1 C T 4: 115,878,186 (GRCm38) probably benign Het
Mtmr7 A G 8: 40,590,462 (GRCm38) F141S probably damaging Het
Myo15b A G 11: 115,887,602 (GRCm38) D1G possibly damaging Het
Odf3 T C 7: 140,848,278 (GRCm38) M1T probably null Het
Olfr1356 T G 10: 78,847,575 (GRCm38) L113F probably damaging Het
Phkb T A 8: 85,901,911 (GRCm38) V183E probably damaging Het
Pola2 T C 19: 5,953,864 (GRCm38) Y161C probably damaging Het
Psen1 G A 12: 83,731,778 (GRCm38) V412I probably benign Het
Psmc4 C A 7: 28,047,512 (GRCm38) G77V probably damaging Het
Psmd3 A G 11: 98,687,760 (GRCm38) Y207C probably damaging Het
Pxk T A 14: 8,130,653 (GRCm38) M84K probably damaging Het
Rab44 A C 17: 29,136,337 (GRCm38) Q19P probably damaging Het
Rbks A G 5: 31,624,515 (GRCm38) Y314H probably benign Het
Rftn2 T C 1: 55,214,240 (GRCm38) D68G possibly damaging Het
Rims2 T A 15: 39,535,914 (GRCm38) S838R probably damaging Het
Sdc4 A T 2: 164,431,218 (GRCm38) D57E probably damaging Het
Slfn14 A G 11: 83,279,156 (GRCm38) L554P probably damaging Het
Spink2 G T 5: 77,205,392 (GRCm38) D83E possibly damaging Het
Srsf4 C T 4: 131,900,102 (GRCm38) probably benign Het
Taar8b A T 10: 24,092,132 (GRCm38) S55T possibly damaging Het
Tbca A G 13: 94,832,410 (GRCm38) E35G probably benign Het
Tmc5 C A 7: 118,628,829 (GRCm38) H307Q probably benign Het
Tmem169 A G 1: 72,298,152 (GRCm38) D82G probably benign Het
Tmem72 T C 6: 116,698,358 (GRCm38) T58A probably benign Het
Ttc7 C T 17: 87,334,321 (GRCm38) P449S probably damaging Het
Ttf2 T C 3: 100,961,406 (GRCm38) E449G probably benign Het
Ubr4 C A 4: 139,402,546 (GRCm38) T659K probably damaging Het
Wdr1 A G 5: 38,547,029 (GRCm38) Y98H probably damaging Het
Wfikkn2 A G 11: 94,239,052 (GRCm38) Y88H probably benign Het
Zfp384 A T 6: 125,030,848 (GRCm38) H247L probably damaging Het
Zfp526 C T 7: 25,225,870 (GRCm38) A518V probably damaging Het
Zfp788 T A 7: 41,647,568 (GRCm38) H47Q 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
R3689:Blm UTSW 7 80,513,079 (GRCm38) missense possibly damaging 0.56
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
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'- GCACTTATAACCACTTCCTTAGATG -3'
(R):5'- GCGTGGAAACGAATTCTAAGTTTTACC -3'

Sequencing Primer
(F):5'- GTGAATACACTGTAGCTGTCAGACAC -3'
(R):5'- TTACCATACCATTAAGCTCCAGTG -3'
Posted On 2016-03-01