Mutagenetix > Incidental Mutation

Incidental Mutation 'R6166:Src'

490131

Institutional Source

Beutler Lab

Gene Symbol

Src

Ensembl Gene

ENSMUSG00000027646

Gene Name

Rous sarcoma oncogene

Synonyms

pp60c-src

MMRRC Submission

044312-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.888) question?

Stock #

R6166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157265828-157313758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 157310442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 359 (Y359C)

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: Y359C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029175
Gene: ENSMUSG00000027646
AA Change: Y359C

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: Y365C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090237
Gene: ENSMUSG00000027646
AA Change: Y365C

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: Y365C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105155
Gene: ENSMUSG00000027646
AA Change: Y365C

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: Y359C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105157
Gene: ENSMUSG00000027646
AA Change: Y359C

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: Y359C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105159
Gene: ENSMUSG00000027646
AA Change: Y359C

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

97% (57/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot2	A	T	12: 84,039,378 (GRCm39)	N296Y	probably damaging	Het
Ago2	T	A	15: 72,996,089 (GRCm39)	I347L	probably benign	Het
Aldh1l2	C	T	10: 83,329,288 (GRCm39)		probably null	Het
Ap1ar	A	G	3: 127,606,177 (GRCm39)		probably null	Het
Arap3	T	C	18: 38,107,423 (GRCm39)	T1365A	probably damaging	Het
Arhgef17	A	T	7: 100,525,699 (GRCm39)	H1966Q	probably damaging	Het
Arpp21	T	C	9: 111,948,266 (GRCm39)	T668A	probably benign	Het
Atg13	G	T	2: 91,506,736 (GRCm39)	Q479K	probably damaging	Het
Bmp8a	T	C	4: 123,218,471 (GRCm39)	T183A	probably benign	Het
Camta2	G	C	11: 70,565,087 (GRCm39)		probably null	Het
Catspere2	A	G	1: 177,931,403 (GRCm39)	T441A	unknown	Het
Ccdc40	T	C	11: 119,122,827 (GRCm39)	S210P	probably benign	Het
Cnn2	A	G	10: 79,824,561 (GRCm39)	E17G	possibly damaging	Het
Cnot6l	T	C	5: 96,227,799 (GRCm39)	D478G	possibly damaging	Het
Cplane1	A	G	15: 8,216,044 (GRCm39)	H478R	probably benign	Het
Csf2rb	A	G	15: 78,228,766 (GRCm39)	Y369C	probably damaging	Het
Dll4	A	G	2: 119,165,107 (GRCm39)		probably null	Het
Efcab6	A	G	15: 83,780,316 (GRCm39)	V1039A	probably benign	Het
Fam117a	T	C	11: 95,271,607 (GRCm39)	M393T	possibly damaging	Het
Fancd2	T	A	6: 113,532,212 (GRCm39)	N508K	possibly damaging	Het
Fat1	T	C	8: 45,405,522 (GRCm39)	S758P	probably damaging	Het
Fgf20	T	C	8: 40,732,881 (GRCm39)	K186E	probably damaging	Het
Filip1	T	C	9: 79,726,736 (GRCm39)	K628E	probably damaging	Het
Fsip2	G	T	2: 82,811,071 (GRCm39)	K2463N	probably benign	Het
Gm15446	T	A	5: 110,090,646 (GRCm39)	Y299*	probably null	Het
Gm7363	A	T	7: 3,986,784 (GRCm39)		noncoding transcript	Het
Gpx5	A	T	13: 21,473,435 (GRCm39)	F104I	probably damaging	Het
Grip1	A	T	10: 119,908,623 (GRCm39)	I618F	probably damaging	Het
Hmcn2	G	A	2: 31,259,274 (GRCm39)	G1038D	probably damaging	Het
Lgals9	C	T	11: 78,862,184 (GRCm39)	A134T	probably benign	Het
Lrba	G	A	3: 86,261,614 (GRCm39)		probably null	Het
Lypd10	A	T	7: 24,413,644 (GRCm39)	Q220L	probably benign	Het
Naprt	T	C	15: 75,763,326 (GRCm39)	Q439R	possibly damaging	Het
Ndufs6	G	A	13: 73,466,060 (GRCm39)		probably benign	Het
Nodal	C	A	10: 61,260,337 (GRCm39)	S329R	probably damaging	Het
Olfm3	T	A	3: 114,916,074 (GRCm39)	N315K	probably damaging	Het
Or4k2	C	T	14: 50,424,225 (GRCm39)	V150I	probably benign	Het
Or6c3b	A	T	10: 129,527,148 (GRCm39)	I254K	probably damaging	Het
Or6k2	A	G	1: 173,986,659 (GRCm39)	T107A	probably benign	Het
Plg	T	A	17: 12,617,001 (GRCm39)	V373E	probably damaging	Het
Prdm2	A	C	4: 142,861,306 (GRCm39)	S661R	probably damaging	Het
Psg21	A	T	7: 18,390,664 (GRCm39)		probably benign	Het
Rhobtb2	T	C	14: 70,035,627 (GRCm39)	D148G	probably damaging	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Scaf11	A	T	15: 96,322,543 (GRCm39)	N116K	probably damaging	Het
Sf3a3	T	C	4: 124,617,177 (GRCm39)		probably benign	Homo
Slc38a9	T	G	13: 112,831,801 (GRCm39)	Y184D	possibly damaging	Het
Sowahc	A	G	10: 59,058,182 (GRCm39)	D106G	probably benign	Het
Srbd1	T	C	17: 86,406,696 (GRCm39)	Y563C	probably damaging	Het
Tbc1d9b	A	G	11: 50,026,673 (GRCm39)	D47G	probably damaging	Het
Tctn3	T	C	19: 40,585,923 (GRCm39)	K541E	possibly damaging	Het
Tgm7	A	G	2: 120,929,539 (GRCm39)	V245A	probably damaging	Het
Thbs2	C	T	17: 14,900,650 (GRCm39)	R519H	probably damaging	Het
Tm4sf19	T	C	16: 32,226,681 (GRCm39)	S157P	probably damaging	Het
Trio	C	T	15: 27,818,157 (GRCm39)	S507N	probably damaging	Het
Trrap	T	A	5: 144,718,791 (GRCm39)	H152Q	possibly damaging	Het
Vmn2r56	A	G	7: 12,427,947 (GRCm39)	L773P	probably damaging	Het
Vmn2r70	A	G	7: 85,215,189 (GRCm39)	L115P	probably benign	Het
Wdr59	C	T	8: 112,199,293 (GRCm39)	R631H	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
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

Predicted Primers

PCR Primer
(F):5'- GGCTTTGCACATGATCTTTTGC -3'
(R):5'- TGATTCCCAGATGTGGCGTAC -3'

Sequencing Primer
(F):5'- ACTTACTCCAAGGGCCCAGTAG -3'
(R):5'- TGGCGTACCACCCCAGG -3'

Posted On

2017-10-10