Incidental Mutation 'IGL02624:Brk1'
ID 301002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Brk1
Ensembl Gene ENSMUSG00000033940
Gene Name BRICK1, SCAR/WAVE actin-nucleating complex subunit
Synonyms 6720456B07Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.426) question?
Stock # IGL02624
Quality Score
Status
Chromosome 6
Chromosomal Location 113581733-113593912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 113581805 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91VR8
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: 18,032,004 (GRCm39) V38A unknown Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Cd3g A G 9: 44,885,459 (GRCm39) probably null Het
Cep192 T C 18: 68,013,866 (GRCm39) V2422A probably benign Het
Ces2g T C 8: 105,691,380 (GRCm39) V172A probably damaging Het
Clcn2 G T 16: 20,522,098 (GRCm39) S830R probably damaging Het
Cyp26b1 T C 6: 84,561,321 (GRCm39) S114G probably benign Het
Dnali1 T C 4: 124,952,791 (GRCm39) Q244R probably benign Het
Entpd1 A T 19: 40,714,502 (GRCm39) K204* probably null Het
Gm5070 A G 3: 95,318,219 (GRCm39) noncoding transcript Het
Gpsm2 G T 3: 108,589,349 (GRCm39) D596E probably benign Het
Hectd1 C T 12: 51,809,233 (GRCm39) A1743T possibly damaging Het
Kcnq5 T G 1: 21,472,654 (GRCm39) L845F probably benign Het
Lmx1a G T 1: 167,672,192 (GRCm39) probably benign Het
Lrp1 A T 10: 127,408,291 (GRCm39) I1795N probably damaging Het
Lsp1 C T 7: 142,044,288 (GRCm39) probably benign Het
Mcm6 C T 1: 128,277,185 (GRCm39) A213T possibly damaging Het
Mylk G T 16: 34,750,266 (GRCm39) V1202L probably benign Het
Myo5b T C 18: 74,848,010 (GRCm39) Y1083H probably damaging Het
Ncoa5 T A 2: 164,854,981 (GRCm39) D47V probably damaging Het
Npat C T 9: 53,478,110 (GRCm39) T954I probably damaging Het
Or2b28 A G 13: 21,531,682 (GRCm39) T195A probably benign Het
Or5p1 A T 7: 107,916,130 (GRCm39) T10S probably benign Het
Pfkm T C 15: 98,024,276 (GRCm39) I428T probably benign Het
Rai1 T C 11: 60,079,569 (GRCm39) F1211S probably damaging Het
Reln T C 5: 22,308,355 (GRCm39) E338G probably benign Het
Tbx18 T C 9: 87,609,459 (GRCm39) Y192C probably damaging Het
Tex21 T A 12: 76,261,398 (GRCm39) D250V probably damaging Het
Tpo A G 12: 30,150,413 (GRCm39) V489A probably benign Het
Tspo T C 15: 83,455,616 (GRCm39) M1T probably null Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnk2 C T 13: 49,256,278 (GRCm39) G281D probably damaging Het
Zfhx2 T C 14: 55,304,085 (GRCm39) T1300A probably benign Het
Other mutations in Brk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4207:Brk1 UTSW 6 113,592,805 (GRCm39) missense possibly damaging 0.94
R4864:Brk1 UTSW 6 113,592,805 (GRCm39) missense possibly damaging 0.94
R7351:Brk1 UTSW 6 113,592,742 (GRCm39) missense probably benign 0.18
Posted On 2015-04-16