Incidental Mutation 'IGL02808:Srms'
ID 360485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Srms
Ensembl Gene ENSMUSG00000027579
Gene Name src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
Synonyms A230069J08Rik, srm
Accession Numbers
Essential gene? Probably essential (E-score: 0.836) question?
Stock # IGL02808
Quality Score
Status
Chromosome 2
Chromosomal Location 180847356-180854964 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180849501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 301 (I301N)
Ref Sequence ENSEMBL: ENSMUSP00000016498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016498] [ENSMUST00000016511]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000016498
AA Change: I301N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016498
Gene: ENSMUSG00000027579
AA Change: I301N

DomainStartEndE-ValueType
SH3 69 126 3.13e-9 SMART
SH2 133 218 5.29e-32 SMART
TyrKc 245 495 2.75e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000016511
SMART Domains Protein: ENSMUSP00000016511
Gene: ENSMUSG00000038751

DomainStartEndE-ValueType
SH3 11 71 2e-16 SMART
SH2 76 161 1.01e-28 SMART
TyrKc 191 441 1.12e-131 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice exhibit no detectable abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk C T 14: 21,153,901 (GRCm39) P35S probably benign Het
Ankmy1 T A 1: 92,814,388 (GRCm39) D373V probably damaging Het
Aox3 A G 1: 58,181,859 (GRCm39) Y282C probably damaging Het
Bcas3 A G 11: 85,386,677 (GRCm39) T371A probably benign Het
Bckdhb T C 9: 83,870,898 (GRCm39) V136A probably benign Het
Ccdc18 G T 5: 108,283,835 (GRCm39) probably benign Het
Cdc25a T A 9: 109,712,667 (GRCm39) probably null Het
Ckap5 T A 2: 91,426,859 (GRCm39) Y1394N probably damaging Het
Dhx15 A G 5: 52,319,041 (GRCm39) V458A possibly damaging Het
Dram1 T C 10: 88,172,786 (GRCm39) Y136C probably damaging Het
Dusp19 A G 2: 80,447,815 (GRCm39) K30E probably benign Het
Elmo2 T C 2: 165,133,627 (GRCm39) probably benign Het
Fcho1 G A 8: 72,165,185 (GRCm39) S424L possibly damaging Het
Ganc A G 2: 120,241,992 (GRCm39) T57A probably benign Het
Hgs T A 11: 120,360,492 (GRCm39) Y63* probably null Het
Marchf6 A T 15: 31,478,552 (GRCm39) N594K probably benign Het
Muc5ac C A 7: 141,359,512 (GRCm39) T1323N possibly damaging Het
Mycn T C 12: 12,989,893 (GRCm39) S168G probably benign Het
Phf11d G T 14: 59,586,739 (GRCm39) Q298K probably damaging Het
Pkd1 T A 17: 24,812,478 (GRCm39) Y3804N probably damaging Het
Pramel16 T A 4: 143,677,585 (GRCm39) probably benign Het
Prr14l A G 5: 32,985,526 (GRCm39) I1323T possibly damaging Het
Pyroxd2 T C 19: 42,719,781 (GRCm39) E475G probably benign Het
Ros1 T C 10: 52,001,985 (GRCm39) K1046E probably damaging Het
Sema7a C T 9: 57,867,631 (GRCm39) A461V probably benign Het
Slc30a2 T A 4: 134,071,360 (GRCm39) I31N possibly damaging Het
Srebf1 C A 11: 60,092,539 (GRCm39) probably null Het
Tmem130 A G 5: 144,680,433 (GRCm39) Y324H probably damaging Het
Ttn G A 2: 76,601,602 (GRCm39) T18654I probably benign Het
Vmn2r6 T A 3: 64,463,917 (GRCm39) T306S probably damaging Het
Other mutations in Srms
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Srms APN 2 180,849,565 (GRCm39) missense probably benign 0.02
IGL01084:Srms APN 2 180,848,177 (GRCm39) splice site probably null
IGL01086:Srms APN 2 180,854,216 (GRCm39) missense probably damaging 1.00
IGL02749:Srms APN 2 180,851,302 (GRCm39) missense possibly damaging 0.58
IGL02986:Srms APN 2 180,854,290 (GRCm39) missense possibly damaging 0.73
IGL03180:Srms APN 2 180,854,573 (GRCm39) utr 5 prime probably benign
R0226:Srms UTSW 2 180,854,175 (GRCm39) missense probably benign 0.00
R0685:Srms UTSW 2 180,854,426 (GRCm39) missense probably benign 0.00
R2171:Srms UTSW 2 180,850,573 (GRCm39) nonsense probably null
R5808:Srms UTSW 2 180,850,548 (GRCm39) missense probably benign 0.02
R6112:Srms UTSW 2 180,849,780 (GRCm39) nonsense probably null
R6277:Srms UTSW 2 180,848,038 (GRCm39) missense possibly damaging 0.58
R6572:Srms UTSW 2 180,854,450 (GRCm39) missense probably benign
R6737:Srms UTSW 2 180,851,253 (GRCm39) missense probably damaging 1.00
R8069:Srms UTSW 2 180,848,751 (GRCm39) missense probably damaging 1.00
R8264:Srms UTSW 2 180,854,343 (GRCm39) missense probably benign 0.10
R8700:Srms UTSW 2 180,848,521 (GRCm39) missense probably damaging 1.00
R9110:Srms UTSW 2 180,848,050 (GRCm39) missense
Posted On 2015-12-18