Mutagenetix > Incidental Mutation

Incidental Mutation 'R9372:Src'

709357

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: 0.888) question?

Stock #

R9372 (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 G at 157311808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 512 (E512G)

Ref Sequence

ENSEMBL: ENSMUSP00000105159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029175] [ENSMUST00000092576] [ENSMUST00000109529] [ENSMUST00000109531] [ENSMUST00000109533]

AlphaFold

P05480

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029175
AA Change: E512G

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029175
Gene: ENSMUSG00000027646
AA Change: E512G

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

possibly damaging
Transcript: ENSMUST00000092576
AA Change: E518G

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090237
Gene: ENSMUSG00000027646
AA Change: E518G

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

possibly damaging
Transcript: ENSMUST00000109529
AA Change: E518G

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105155
Gene: ENSMUSG00000027646
AA Change: E518G

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

possibly damaging
Transcript: ENSMUST00000109531
AA Change: E512G

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105157
Gene: ENSMUSG00000027646
AA Change: E512G

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

possibly damaging
Transcript: ENSMUST00000109533
AA Change: E512G

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105159
Gene: ENSMUSG00000027646
AA Change: E512G

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: 98.7%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aass	T	C	6: 23,078,856 (GRCm39)	T719A	probably damaging	Het
Abcb8	A	G	5: 24,605,114 (GRCm39)	E100G	probably benign	Het
Actr1b	C	T	1: 36,741,561 (GRCm39)	E104K	probably damaging	Het
Atad5	T	A	11: 79,985,094 (GRCm39)	S60R	possibly damaging	Het
Bcan	G	T	3: 87,895,610 (GRCm39)	A842D	probably benign	Het
Cacna2d2	G	A	9: 107,394,802 (GRCm39)	E623K	probably benign	Het
Cdk15	T	C	1: 59,370,142 (GRCm39)	Y393H	probably benign	Het
Ceacam12	C	T	7: 17,803,229 (GRCm39)	R212C	probably benign	Het
Ceacam5	T	C	7: 17,481,267 (GRCm39)	I338T	possibly damaging	Het
Crcp	A	G	5: 130,088,664 (GRCm39)	D139G	possibly damaging	Het
Crls1	T	A	2: 132,707,802 (GRCm39)	Y290*	probably null	Het
Dcun1d5	A	G	9: 7,206,780 (GRCm39)	N206D	probably damaging	Het
Dmtf1	A	T	5: 9,190,399 (GRCm39)	V105E	possibly damaging	Het
Dnah7a	T	C	1: 53,543,474 (GRCm39)	Y2232C	probably benign	Het
Dnajc25	T	A	4: 59,003,394 (GRCm39)	V55E	probably damaging	Het
Dpy19l4	T	C	4: 11,303,343 (GRCm39)	M193V	possibly damaging	Het
Dsc1	A	T	18: 20,221,489 (GRCm39)	V662E	probably damaging	Het
Enpp6	G	A	8: 47,506,627 (GRCm39)	V144I	possibly damaging	Het
Fip1l1	A	G	5: 74,707,463 (GRCm39)	T204A	possibly damaging	Het
Flvcr2	T	C	12: 85,793,795 (GRCm39)	V57A	probably benign	Het
Fsip2	T	G	2: 82,822,756 (GRCm39)	I6163S	possibly damaging	Het
Gipr	T	A	7: 18,896,863 (GRCm39)	M136L	probably benign	Het
Gm7298	A	G	6: 121,748,746 (GRCm39)	I674V	probably benign	Het
Gtf2a1	C	T	12: 91,534,592 (GRCm39)	V221I	probably damaging	Het
Haus3	A	T	5: 34,321,002 (GRCm39)	D481E	probably benign	Het
Hinfp	A	C	9: 44,209,083 (GRCm39)	V345G	probably damaging	Het
Hs3st5	A	T	10: 36,708,698 (GRCm39)	K78*	probably null	Het
Ighv1-31	T	C	12: 114,792,894 (GRCm39)	Y114C	probably damaging	Het
Ighv5-15	T	A	12: 113,790,357 (GRCm39)	T88S	probably damaging	Het
Ildr1	G	A	16: 36,542,721 (GRCm39)	D418N	probably damaging	Het
Ints10	C	T	8: 69,271,967 (GRCm39)	T556I	probably damaging	Het
Isoc1	G	T	18: 58,792,757 (GRCm39)	R65L	possibly damaging	Het
Itm2c	C	T	1: 85,833,055 (GRCm39)	R130C	probably damaging	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kif11	T	C	19: 37,399,892 (GRCm39)	V793A	probably benign	Het
Klrg1	A	C	6: 122,256,699 (GRCm39)	V29G	probably benign	Het
Lrch4	A	G	5: 137,631,953 (GRCm39)	T114A	possibly damaging	Het
Map3k3	C	T	11: 106,033,335 (GRCm39)	T196M	probably damaging	Het
Marchf1	C	A	8: 66,921,145 (GRCm39)	T274N	probably benign	Het
Nxpe5	A	T	5: 138,249,445 (GRCm39)	T412S	probably benign	Het
Or10q1	C	T	19: 13,727,069 (GRCm39)	H200Y	probably benign	Het
Pcnt	A	G	10: 76,258,960 (GRCm39)	W502R	probably damaging	Het
Pfdn5	T	C	15: 102,235,286 (GRCm39)		probably null	Het
Pkn2	A	T	3: 142,535,018 (GRCm39)	V232E	probably damaging	Het
Ppfibp1	T	C	6: 146,898,307 (GRCm39)	S88P	probably damaging	Het
Prr23a4	A	G	9: 98,785,478 (GRCm39)	I48V	probably benign	Het
Ptprz1	G	A	6: 23,045,706 (GRCm39)	E2159K	probably damaging	Het
Smyd3	T	C	1: 178,871,470 (GRCm39)	E303G	possibly damaging	Het
Snx13	T	A	12: 35,151,048 (GRCm39)	N336K	possibly damaging	Het
Stard9	T	A	2: 120,495,420 (GRCm39)	C98*	probably null	Het
Tapbpl	A	G	6: 125,203,672 (GRCm39)	V336A	probably benign	Het
Tbrg1	G	A	9: 37,563,945 (GRCm39)	T230I	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem132c	G	A	5: 127,640,145 (GRCm39)	G772D	probably damaging	Het
Tmem219	C	T	7: 126,496,017 (GRCm39)	G119S	possibly damaging	Het
Ttbk2	T	A	2: 120,603,766 (GRCm39)	S325C	probably benign	Het
Ttc28	A	T	5: 111,331,073 (GRCm39)	Y431F	probably benign	Het
Vmn1r27	A	T	6: 58,192,746 (GRCm39)	M86K	possibly damaging	Het
Vmn2r15	G	A	5: 109,441,953 (GRCm39)	P160L	possibly damaging	Het
Zfc3h1	A	T	10: 115,221,223 (GRCm39)	S41C	unknown	Het
Zfp260	C	A	7: 29,804,232 (GRCm39)	T44K	probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (GRCm39)		probably benign	Het
Zfp760	A	G	17: 21,941,035 (GRCm39)	N70S	probably benign	Het
Zfp788	T	A	7: 41,299,708 (GRCm39)	Y781*	probably null	Het
Zfp800	A	T	6: 28,256,433 (GRCm39)	S52T	possibly 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
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'- GTCTAGGCTGTGTCAGTCTCTC -3'
(R):5'- ATCCCTGAAGCCCTTCCATG -3'

Sequencing Primer
(F):5'- GTGTCAGTCTCTCTGGAGCC -3'
(R):5'- TTCCATGCTCCAAAAGGGG -3'

Posted On

2022-04-18