Mutagenetix > Incidental Mutation

Incidental Mutation 'R9453:Src'

714379

Institutional Source

Beutler Lab

Gene Symbol

Src

Ensembl Gene

ENSMUSG00000027646

Gene Name

Rous sarcoma oncogene

Synonyms

pp60c-src

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.901) question?

Stock #

R9453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157265828-157313758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 157307852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 254 (T254S)

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: T254S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029175
Gene: ENSMUSG00000027646
AA Change: T254S

Domain	Start	End	E-Value	Type
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: T260S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090237
Gene: ENSMUSG00000027646
AA Change: T260S

Domain	Start	End	E-Value	Type
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: T260S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105155
Gene: ENSMUSG00000027646
AA Change: T260S

Domain	Start	End	E-Value	Type
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: T254S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105157
Gene: ENSMUSG00000027646
AA Change: T254S

Domain	Start	End	E-Value	Type
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: T254S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105159
Gene: ENSMUSG00000027646
AA Change: T254S

Domain	Start	End	E-Value	Type
SH3	86	143	2.48e-21	SMART
SH2	148	238	6.56e-37	SMART
TyrKc	269	518	2.97e-131	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,054 (GRCm39)	A179T	probably benign	Het
Abca6	A	G	11: 110,138,090 (GRCm39)		probably null	Het
Agps	A	C	2: 75,662,585 (GRCm39)	D10A	probably damaging	Het
Atad2b	T	A	12: 5,081,578 (GRCm39)	D1162E	probably benign	Het
Atp13a4	T	C	16: 29,239,659 (GRCm39)	K851R	unknown	Het
Cdh15	A	G	8: 123,586,029 (GRCm39)	D136G	probably damaging	Het
Cdk5rap1	A	T	2: 154,190,585 (GRCm39)	Y459N	probably damaging	Het
Cep192	A	T	18: 67,989,354 (GRCm39)	K1834*	probably null	Het
Cfap221	C	T	1: 119,853,361 (GRCm39)	V778I	probably benign	Het
Chpf	G	A	1: 75,452,854 (GRCm39)	T362I	probably benign	Het
Cyp4x1	T	C	4: 114,991,069 (GRCm39)	R36G	probably damaging	Het
D16Ertd472e	T	A	16: 78,342,052 (GRCm39)	Q276L	probably damaging	Het
Dapk3	T	C	10: 81,025,825 (GRCm39)	Y39H	probably damaging	Het
Eefsec	T	C	6: 88,353,337 (GRCm39)	T111A	probably damaging	Het
Ehbp1l1	G	A	19: 5,758,371 (GRCm39)	R1714C	unknown	Het
Flcn	A	G	11: 59,694,609 (GRCm39)	V121A	probably damaging	Het
Gaa	G	T	11: 119,165,958 (GRCm39)	D423Y	probably damaging	Het
Gaa	A	C	11: 119,165,959 (GRCm39)	D423A	probably benign	Het
Garnl3	A	G	2: 32,893,881 (GRCm39)	I694T	probably damaging	Het
Gm5114	T	A	7: 39,058,242 (GRCm39)	Q459L	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hmmr	A	G	11: 40,612,655 (GRCm39)		probably null	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lmnb1	G	A	18: 56,873,114 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,288,832 (GRCm39)	Y3678C	probably damaging	Het
Map7	T	C	10: 20,153,981 (GRCm39)	V699A	unknown	Het
Mme	G	T	3: 63,272,306 (GRCm39)	G635V	possibly damaging	Het
Mroh8	A	T	2: 157,071,948 (GRCm39)	I519N	possibly damaging	Het
Mrps11	T	C	7: 78,442,390 (GRCm39)	S157P	probably damaging	Het
Muc16	T	C	9: 18,572,061 (GRCm39)	T153A	unknown	Het
Nlrp1b	A	G	11: 71,072,913 (GRCm39)	V310A	probably damaging	Het
Oas1f	T	C	5: 120,993,592 (GRCm39)	V268A	probably damaging	Het
Or56a3b	T	A	7: 104,770,817 (GRCm39)	I51N		Het
Or6y1	A	T	1: 174,276,233 (GRCm39)	T15S	probably benign	Het
Padi4	A	G	4: 140,479,950 (GRCm39)	L401P	probably benign	Het
Pdzd7	A	G	19: 45,016,056 (GRCm39)	*1022Q	probably null	Het
Plcl2	C	A	17: 50,915,391 (GRCm39)	T800K	probably damaging	Het
Polr1has	TCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCAC	17: 37,275,939 (GRCm39)		probably benign	Het
Ppp1r37	A	T	7: 19,295,796 (GRCm39)	F54I	probably damaging	Het
Prl7c1	T	A	13: 27,957,870 (GRCm39)	Y190F	probably benign	Het
Prpf8	A	G	11: 75,397,212 (GRCm39)	E2015G	possibly damaging	Het
Rpap3	A	G	15: 97,579,641 (GRCm39)	V457A		Het
Samd13	A	T	3: 146,368,510 (GRCm39)	D27E		Het
Sephs1	A	T	2: 4,889,174 (GRCm39)		probably benign	Het
Slc22a20	T	G	19: 6,023,024 (GRCm39)	Q373P	probably damaging	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
St6galnac2	A	T	11: 116,569,344 (GRCm39)	M301K	possibly damaging	Het
Tnfsf13	A	T	11: 69,576,010 (GRCm39)	W26R	probably damaging	Het
Trbv28	T	A	6: 41,248,687 (GRCm39)	D72E	probably benign	Het
Trim75	T	A	8: 65,436,561 (GRCm39)		probably benign	Het
Ttc39d	T	C	17: 80,524,754 (GRCm39)	F471S	probably damaging	Het
Vav1	C	T	17: 57,613,191 (GRCm39)	P621L	probably benign	Het
Vezt	A	T	10: 93,832,856 (GRCm39)	L185*	probably null	Het
Vmn2r42	T	C	7: 8,187,295 (GRCm39)	I826V	probably benign	Het
Vmn2r67	G	A	7: 84,800,697 (GRCm39)	T413M	probably benign	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr83os	G	C	8: 85,808,638 (GRCm39)	W106C	probably damaging	Het
Wdr95	T	C	5: 149,475,917 (GRCm39)	S72P	probably damaging	Het
Zfp423	T	A	8: 88,508,251 (GRCm39)	T698S	probably damaging	Het
Zfp521	G	A	18: 13,977,293 (GRCm39)	T1040I	probably damaging	Het
Zfp563	T	A	17: 33,308,565 (GRCm39)	V9E		Het
Zmym2	T	A	14: 57,180,770 (GRCm39)	V894E	probably damaging	Het

Other mutations in Src

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Src	APN	2	157,311,423 (GRCm39)	missense	probably damaging	1.00
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
Z1176:Src	UTSW	2	157,309,459 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- AGCAGGTGACTTTTGTGCCG -3'
(R):5'- CAGCCCAGTTGTTCAGTAGAG -3'

Sequencing Primer
(F):5'- CCCTGGGGAATAGATGTCTACAG -3'
(R):5'- TTCAGTAGAGACAATTAAAGAGAGGG -3'

Posted On

2022-06-15