Incidental Mutation 'IGL02618:Src'
ID300731
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: 0.885) question?
Stock #IGL02618
Quality Score
Status
Chromosome2
Chromosomal Location157418444-157471862 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 157464778 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 234 (K234*)
Ref Sequence ENSEMBL: ENSMUSP00000105159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029175] [ENSMUST00000092576] [ENSMUST00000109529] [ENSMUST00000109531] [ENSMUST00000109533]
Predicted Effect probably null
Transcript: ENSMUST00000029175
AA Change: K234*
SMART Domains Protein: ENSMUSP00000029175
Gene: ENSMUSG00000027646
AA Change: K234*

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 null
Transcript: ENSMUST00000092576
AA Change: K240*
SMART Domains Protein: ENSMUSP00000090237
Gene: ENSMUSG00000027646
AA Change: K240*

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 null
Transcript: ENSMUST00000109529
AA Change: K240*
SMART Domains Protein: ENSMUSP00000105155
Gene: ENSMUSG00000027646
AA Change: K240*

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 null
Transcript: ENSMUST00000109531
AA Change: K234*
SMART Domains Protein: ENSMUSP00000105157
Gene: ENSMUSG00000027646
AA Change: K234*

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 null
Transcript: ENSMUST00000109533
AA Change: K234*
SMART Domains Protein: ENSMUSP00000105159
Gene: ENSMUSG00000027646
AA Change: K234*

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G A 12: 55,057,301 Q178* probably null Het
Adgre1 T A 17: 57,444,021 V565E possibly damaging Het
Arfgef2 C A 2: 166,853,313 N535K probably damaging Het
Bbx A G 16: 50,247,798 L161S probably damaging Het
Bclaf1 T C 10: 20,323,528 S224P probably damaging Het
Car2 A G 3: 14,897,972 D189G probably benign Het
Catsperb A T 12: 101,480,724 probably benign Het
Ccdc88c C T 12: 100,913,553 V1770I probably benign Het
Cebpe T C 14: 54,710,777 D203G probably damaging Het
Chn2 A G 6: 54,220,437 N104S probably damaging Het
Clec2i G A 6: 128,896,501 C231Y probably damaging Het
Col4a5 C T X: 141,683,682 P1557S probably damaging Het
Creb3l1 T C 2: 91,983,198 N498S probably benign Het
Ctnnal1 A T 4: 56,817,060 D587E probably benign Het
Dnmt3l T C 10: 78,054,022 probably benign Het
Dock7 A G 4: 99,083,028 V100A probably benign Het
Frk C T 10: 34,583,964 T185I possibly damaging Het
Frmd4b G A 6: 97,308,105 Q340* probably null Het
Lima1 C A 15: 99,802,216 probably benign Het
Ndrg1 G A 15: 66,940,237 H202Y probably benign Het
Nxpe2 T G 9: 48,326,334 N207T probably damaging Het
Olfr201 A T 16: 59,268,927 S247T probably damaging Het
Pdzph1 T C 17: 58,879,073 probably benign Het
Pinx1 A G 14: 63,868,520 D75G probably damaging Het
Plxdc1 A T 11: 97,932,304 D370E probably benign Het
Polb A T 8: 22,637,093 L228Q probably damaging Het
Rab3gap2 T A 1: 185,251,741 I521N possibly damaging Het
Rapgef1 A G 2: 29,737,943 D1045G probably damaging Het
Rbks A T 5: 31,624,519 Y312* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Soga1 A G 2: 157,040,566 L522P probably damaging Het
Stk36 C A 1: 74,631,675 probably benign Het
Ttll6 G T 11: 96,147,562 C412F probably benign Het
Zfp58 A G 13: 67,491,356 F339L possibly damaging Het
Other mutations in Src
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Src APN 2 157469503 missense probably damaging 1.00
IGL01320: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
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
R7707:Src UTSW 2 157464658 missense probably damaging 1.00
R7709:Src UTSW 2 157457244 missense probably benign 0.00
Z1176:Src UTSW 2 157467539 missense probably benign 0.43
Posted On2015-04-16