Incidental Mutation 'IGL02624:Brk1'
ID301002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brk1
Ensembl Gene ENSMUSG00000033940
Gene NameBRICK1, SCAR/WAVE actin-nucleating complex subunit
Synonyms6720456B07Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.578) question?
Stock #IGL02624
Quality Score
Status
Chromosome6
Chromosomal Location113604772-113616951 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 113604844 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 22 (I22M)
Ref Sequence ENSEMBL: ENSMUSP00000041644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035725] [ENSMUST00000035870] [ENSMUST00000125139]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035725
AA Change: I22M

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041644
Gene: ENSMUSG00000033940
AA Change: I22M

DomainStartEndE-ValueType
PDB:4N78|E 1 75 4e-41 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000035870
SMART Domains Protein: ENSMUSP00000035316
Gene: ENSMUSG00000033963

DomainStartEndE-ValueType
Pfam:DUF4563 3 178 1.4e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125139
SMART Domains Protein: ENSMUSP00000121804
Gene: ENSMUSG00000033963

DomainStartEndE-ValueType
Pfam:DUF4563 1 178 5.2e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204883
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display partial embryonic lethality before implantation with abnormalities in the actin network and failure of cultured embryos to hatch from the zona pellucida. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930004D18Rik A G 2: 18,027,193 V38A unknown Het
Armc8 T C 9: 99,527,069 probably benign Het
Cd3g A G 9: 44,974,161 probably null Het
Cep192 T C 18: 67,880,795 V2422A probably benign Het
Ces2g T C 8: 104,964,748 V172A probably damaging Het
Clcn2 G T 16: 20,703,348 S830R probably damaging Het
Cyp26b1 T C 6: 84,584,339 S114G probably benign Het
Dnali1 T C 4: 125,058,998 Q244R probably benign Het
Entpd1 A T 19: 40,726,058 K204* probably null Het
Gm5070 A G 3: 95,410,908 noncoding transcript Het
Gpsm2 G T 3: 108,682,033 D596E probably benign Het
Hectd1 C T 12: 51,762,450 A1743T possibly damaging Het
Kcnq5 T G 1: 21,402,430 L845F probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Lrp1 A T 10: 127,572,422 I1795N probably damaging Het
Lsp1 C T 7: 142,490,551 probably benign Het
Mcm6 C T 1: 128,349,448 A213T possibly damaging Het
Mylk G T 16: 34,929,896 V1202L probably benign Het
Myo5b T C 18: 74,714,939 Y1083H probably damaging Het
Ncoa5 T A 2: 165,013,061 D47V probably damaging Het
Npat C T 9: 53,566,810 T954I probably damaging Het
Olfr1367 A G 13: 21,347,512 T195A probably benign Het
Olfr491 A T 7: 108,316,923 T10S probably benign Het
Pfkm T C 15: 98,126,395 I428T probably benign Het
Rai1 T C 11: 60,188,743 F1211S probably damaging Het
Reln T C 5: 22,103,357 E338G probably benign Het
Tbx18 T C 9: 87,727,406 Y192C probably damaging Het
Tex21 T A 12: 76,214,624 D250V probably damaging Het
Tpo A G 12: 30,100,414 V489A probably benign Het
Tspo T C 15: 83,571,415 M1T probably null Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnk2 C T 13: 49,102,802 G281D probably damaging Het
Zfhx2 T C 14: 55,066,628 T1300A probably benign Het
Other mutations in Brk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4207:Brk1 UTSW 6 113615844 missense possibly damaging 0.94
R4864:Brk1 UTSW 6 113615844 missense possibly damaging 0.94
R7351:Brk1 UTSW 6 113615781 missense probably benign 0.18
Posted On2015-04-16