Incidental Mutation 'IGL01320:Src'
ID278274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Src
Ensembl Gene ENSMUSG00000027646
Gene NameRous sarcoma oncogene
Synonymspp60c-src
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.896) question?
Stock #IGL01320
Quality Score
Status
Chromosome2
Chromosomal Location157418444-157471862 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 157469503 bp
ZygosityHeterozygous
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]
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,575,588 E229G probably benign Het
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Ankrd17 A T 5: 90,260,129 S1410T probably damaging Het
Arntl T C 7: 113,303,407 I421T probably damaging Het
Asb8 A G 15: 98,141,278 probably benign Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Crnn T C 3: 93,148,212 S102P probably damaging Het
Cyb5a T C 18: 84,879,523 I115T probably damaging Het
Daw1 T C 1: 83,198,180 I213T possibly damaging Het
Dcp1b T A 6: 119,215,075 S317R probably benign Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
E2f7 G A 10: 110,754,093 V36I probably benign Het
Esrp1 A G 4: 11,384,374 I103T possibly damaging Het
Hap1 G A 11: 100,349,380 T530I probably damaging Het
Hps3 T C 3: 20,030,469 N185S probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Lipn A G 19: 34,084,640 T332A probably benign Het
Ltbp4 A G 7: 27,328,359 probably benign Het
Ncor2 A G 5: 125,109,927 V11A probably benign Het
Nipsnap2 C T 5: 129,744,764 T108M probably damaging Het
Olfr153 T A 2: 87,532,285 M84K probably benign Het
Olfr479 A G 7: 108,054,981 probably benign Het
Ppid A G 3: 79,595,277 E46G probably damaging Het
Rrp12 A G 19: 41,877,936 L626P probably damaging Het
Slc6a15 A T 10: 103,404,745 I410F probably benign Het
Sorcs1 A G 19: 50,288,079 probably benign Het
St8sia5 A T 18: 77,254,622 T307S probably damaging Het
Stac2 T C 11: 98,040,095 probably null Het
Tiam2 T C 17: 3,505,745 L77P probably damaging Het
Tmem87b G T 2: 128,831,216 G190V probably damaging Het
Trav7-6 T C 14: 53,717,108 S32P possibly damaging Het
Unc45b A G 11: 82,912,393 probably null Het
Wnt1 C A 15: 98,792,523 D244E possibly damaging Het
Other mutations in Src
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Src APN 2 157469503 missense probably damaging 1.00
IGL01323:Src APN 2 157469503 missense probably damaging 1.00
IGL01452:Src APN 2 157462983 missense probably damaging 1.00
IGL02618:Src APN 2 157464778 nonsense probably null
R0605:Src UTSW 2 157469921 missense probably damaging 1.00
R1457:Src UTSW 2 157469212 missense probably damaging 1.00
R1471:Src UTSW 2 157457187 nonsense probably null
R1694:Src UTSW 2 157469755 missense possibly damaging 0.95
R2040:Src UTSW 2 157457110 missense probably benign 0.02
R2209:Src UTSW 2 157462790 missense probably benign 0.16
R4112:Src UTSW 2 157463026 missense probably damaging 1.00
R4414:Src UTSW 2 157464653 missense probably damaging 1.00
R4581:Src UTSW 2 157463038 missense probably damaging 0.98
R4661:Src UTSW 2 157469932 missense probably damaging 1.00
R4781:Src UTSW 2 157467485 missense possibly damaging 0.71
R5504:Src UTSW 2 157464721 missense probably damaging 1.00
R5913:Src UTSW 2 157466030 critical splice donor site probably null
R6166:Src UTSW 2 157468522 missense probably damaging 0.99
R6336:Src UTSW 2 157457155 missense probably benign 0.04
Posted On2015-04-16