Incidental Mutation 'IGL01319:Src'
ID 278270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Src
Ensembl Gene ENSMUSG00000027646
Gene Name Rous sarcoma oncogene
Synonyms pp60c-src
Accession Numbers
Essential gene? Probably essential (E-score: 0.888) question?
Stock # IGL01319
Quality Score
Status
Chromosome 2
Chromosomal Location 157265828-157313758 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 157311423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 461 (G461R)
Ref Sequence ENSEMBL: ENSMUSP00000105159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029175] [ENSMUST00000092576] [ENSMUST00000109529] [ENSMUST00000109531] [ENSMUST00000109533]
AlphaFold P05480
Predicted Effect probably damaging
Transcript: ENSMUST00000029175
AA Change: G461R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029175
Gene: ENSMUSG00000027646
AA Change: G461R

DomainStartEndE-ValueType
SH3 86 143 2.48e-21 SMART
SH2 148 238 6.56e-37 SMART
TyrKc 269 518 2.97e-131 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000092576
AA Change: G467R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090237
Gene: ENSMUSG00000027646
AA Change: G467R

DomainStartEndE-ValueType
SH3 86 149 1.2e-19 SMART
SH2 154 244 6.56e-37 SMART
TyrKc 275 524 2.97e-131 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109529
AA Change: G467R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105155
Gene: ENSMUSG00000027646
AA Change: G467R

DomainStartEndE-ValueType
SH3 86 149 1.2e-19 SMART
SH2 154 244 6.56e-37 SMART
TyrKc 275 524 2.97e-131 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109531
AA Change: G461R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105157
Gene: ENSMUSG00000027646
AA Change: G461R

DomainStartEndE-ValueType
SH3 86 143 2.48e-21 SMART
SH2 148 238 6.56e-37 SMART
TyrKc 269 518 2.97e-131 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109533
AA Change: G461R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105159
Gene: ENSMUSG00000027646
AA Change: G461R

DomainStartEndE-ValueType
SH3 86 143 2.48e-21 SMART
SH2 148 238 6.56e-37 SMART
TyrKc 269 518 2.97e-131 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit growth retardation, failure of tooth eruption, osteopetrosis with lack of secondary bone resorption, and lethality at 3-4 weeks. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,888,077 (GRCm39) V307E probably benign Het
Bub1b T C 2: 118,445,475 (GRCm39) I265T possibly damaging Het
Cemip2 C T 19: 21,822,121 (GRCm39) P1172L possibly damaging Het
Cntnap3 G A 13: 64,935,651 (GRCm39) T404I probably damaging Het
Disc1 T C 8: 125,814,630 (GRCm39) S165P probably damaging Het
Dock1 T C 7: 134,391,007 (GRCm39) F756L probably benign Het
Dock2 A G 11: 34,589,617 (GRCm39) V480A possibly damaging Het
Drc3 A G 11: 60,255,788 (GRCm39) D125G probably null Het
Emid1 C T 11: 5,093,859 (GRCm39) C96Y probably damaging Het
F13b A G 1: 139,434,531 (GRCm39) N99S probably damaging Het
Fam20a A G 11: 109,569,284 (GRCm39) probably benign Het
Fancd2 C A 6: 113,561,860 (GRCm39) T1243K probably damaging Het
Fbxw14 T C 9: 109,107,859 (GRCm39) K172E probably damaging Het
Gm13941 T C 2: 110,925,150 (GRCm39) probably null Het
Gtpbp4 A T 13: 9,035,296 (GRCm39) N354K probably benign Het
Igkv2-116 T C 6: 68,129,388 (GRCm39) L50P probably benign Het
Klrb1-ps1 C T 6: 129,093,548 (GRCm39) P23L possibly damaging Het
Kng2 T A 16: 22,847,584 (GRCm39) I26F probably damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrpprc T C 17: 85,012,840 (GRCm39) probably benign Het
Man2a2 C T 7: 80,010,880 (GRCm39) V704M possibly damaging Het
Mbip A G 12: 56,377,027 (GRCm39) V303A probably benign Het
Mipep A T 14: 61,080,720 (GRCm39) M571L probably benign Het
Ncan A T 8: 70,550,212 (GRCm39) V1188D probably damaging Het
Pcdhb4 T C 18: 37,441,566 (GRCm39) V292A probably benign Het
Pkd1 T C 17: 24,806,893 (GRCm39) probably benign Het
Ppp2r2c T A 5: 37,104,465 (GRCm39) S282T possibly damaging Het
Rad54l2 C T 9: 106,596,245 (GRCm39) G231D probably benign Het
Rnf20 T G 4: 49,649,326 (GRCm39) D443E probably damaging Het
Rptor A G 11: 119,781,996 (GRCm39) M1108V probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Sesn2 C T 4: 132,227,278 (GRCm39) probably benign Het
Shank1 C A 7: 44,002,547 (GRCm39) A1422E possibly damaging Het
Skic3 A G 13: 76,277,498 (GRCm39) H491R probably benign Het
Slc13a4 C T 6: 35,284,288 (GRCm39) probably null Het
Snrnp200 T C 2: 127,072,047 (GRCm39) probably benign Het
Tbxas1 A G 6: 38,994,907 (GRCm39) I178V probably benign Het
Triml1 A G 8: 43,594,434 (GRCm39) probably benign Het
Tsen2 A T 6: 115,553,945 (GRCm39) Q441L probably damaging Het
Ttc23l A G 15: 10,509,492 (GRCm39) probably benign Het
Ttn T C 2: 76,711,648 (GRCm39) probably benign Het
Vsig10l C T 7: 43,114,678 (GRCm39) S293L probably damaging Het
Zcchc13 C A X: 102,674,606 (GRCm39) Q110K possibly damaging Het
Other mutations in Src
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01320:Src APN 2 157,311,423 (GRCm39) missense probably damaging 1.00
IGL01323:Src APN 2 157,311,423 (GRCm39) missense probably damaging 1.00
IGL01452:Src APN 2 157,304,903 (GRCm39) missense probably damaging 1.00
IGL02618:Src APN 2 157,306,698 (GRCm39) nonsense probably null
R0605:Src UTSW 2 157,311,841 (GRCm39) missense probably damaging 1.00
R1457:Src UTSW 2 157,311,132 (GRCm39) missense probably damaging 1.00
R1471:Src UTSW 2 157,299,107 (GRCm39) nonsense probably null
R1694:Src UTSW 2 157,311,675 (GRCm39) missense possibly damaging 0.95
R2040:Src UTSW 2 157,299,030 (GRCm39) missense probably benign 0.02
R2209:Src UTSW 2 157,304,710 (GRCm39) missense probably benign 0.16
R4112:Src UTSW 2 157,304,946 (GRCm39) missense probably damaging 1.00
R4414:Src UTSW 2 157,306,573 (GRCm39) missense probably damaging 1.00
R4581:Src UTSW 2 157,304,958 (GRCm39) missense probably damaging 0.98
R4661:Src UTSW 2 157,311,852 (GRCm39) missense probably damaging 1.00
R4781:Src UTSW 2 157,309,405 (GRCm39) missense possibly damaging 0.71
R5504:Src UTSW 2 157,306,641 (GRCm39) missense probably damaging 1.00
R5913:Src UTSW 2 157,307,950 (GRCm39) critical splice donor site probably null
R6166:Src UTSW 2 157,310,442 (GRCm39) missense probably damaging 0.99
R6336:Src UTSW 2 157,299,075 (GRCm39) missense probably benign 0.04
R7707:Src UTSW 2 157,306,578 (GRCm39) missense probably damaging 1.00
R7709:Src UTSW 2 157,299,164 (GRCm39) missense probably benign 0.00
R9046:Src UTSW 2 157,307,795 (GRCm39) missense probably damaging 0.99
R9372:Src UTSW 2 157,311,808 (GRCm39) missense possibly damaging 0.76
R9410:Src UTSW 2 157,311,676 (GRCm39) missense probably damaging 0.98
R9453:Src UTSW 2 157,307,852 (GRCm39) missense probably damaging 1.00
Z1176:Src UTSW 2 157,309,459 (GRCm39) missense probably benign 0.43
Posted On 2015-04-16