Incidental Mutation 'R4112:Src'
ID |
314443 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Src
|
Ensembl Gene |
ENSMUSG00000027646 |
Gene Name |
Rous sarcoma oncogene |
Synonyms |
pp60c-src |
MMRRC Submission |
040989-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.888)
|
Stock # |
R4112 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
157265828-157313758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 157304946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Histidine
at position 165
(L165H)
|
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: L165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029175 Gene: ENSMUSG00000027646 AA Change: L165H
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: L171H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090237 Gene: ENSMUSG00000027646 AA Change: L171H
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: L171H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105155 Gene: ENSMUSG00000027646 AA Change: L171H
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: L165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105157 Gene: ENSMUSG00000027646 AA Change: L165H
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: L165H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105159 Gene: ENSMUSG00000027646 AA Change: L165H
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 |
noncoding transcript
Transcript: ENSMUST00000129770
|
Meta Mutation Damage Score |
0.9174 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
Validation Efficiency |
97% (56/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Aamp |
A |
G |
1: 74,320,386 (GRCm39) |
|
probably benign |
Het |
Abcb4 |
A |
G |
5: 8,986,783 (GRCm39) |
|
probably null |
Het |
Adam6b |
T |
A |
12: 113,453,256 (GRCm39) |
F24L |
possibly damaging |
Het |
Alms1 |
G |
A |
6: 85,597,870 (GRCm39) |
V1368I |
probably benign |
Het |
Angpt2 |
T |
A |
8: 18,749,139 (GRCm39) |
Q326L |
probably damaging |
Het |
Armc9 |
T |
A |
1: 86,116,661 (GRCm39) |
I327N |
possibly damaging |
Het |
Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
Ccdc162 |
T |
A |
10: 41,532,324 (GRCm39) |
E450V |
possibly damaging |
Het |
Ccdc7b |
G |
T |
8: 129,811,708 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
T |
C |
4: 11,814,628 (GRCm39) |
S728P |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,035,844 (GRCm39) |
L168P |
probably damaging |
Het |
Cnot1 |
A |
C |
8: 96,500,246 (GRCm39) |
L111V |
probably damaging |
Het |
Col14a1 |
A |
T |
15: 55,226,955 (GRCm39) |
N235I |
unknown |
Het |
Col2a1 |
A |
C |
15: 97,881,582 (GRCm39) |
L787R |
probably benign |
Het |
Cyp3a25 |
A |
T |
5: 145,939,841 (GRCm39) |
D55E |
probably benign |
Het |
Dennd6a |
A |
T |
14: 26,349,673 (GRCm39) |
|
probably benign |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Etfbkmt |
T |
C |
6: 149,046,089 (GRCm39) |
|
probably benign |
Het |
Etfrf1 |
T |
C |
6: 145,161,098 (GRCm39) |
Y23H |
probably damaging |
Het |
Gemin4 |
T |
A |
11: 76,103,645 (GRCm39) |
E372V |
probably damaging |
Het |
Glyr1 |
T |
C |
16: 4,836,350 (GRCm39) |
K500E |
possibly damaging |
Het |
Gm10271 |
A |
T |
10: 116,803,943 (GRCm39) |
|
probably benign |
Het |
Gm20775 |
A |
T |
Y: 10,641,878 (GRCm39) |
|
noncoding transcript |
Het |
Gm5578 |
A |
G |
6: 112,583,466 (GRCm39) |
|
noncoding transcript |
Het |
Gxylt2 |
A |
G |
6: 100,760,167 (GRCm39) |
N234S |
probably damaging |
Het |
Kcna6 |
G |
C |
6: 126,716,737 (GRCm39) |
R51G |
probably damaging |
Het |
Klf17 |
A |
G |
4: 117,617,898 (GRCm39) |
V153A |
possibly damaging |
Het |
L3mbtl2 |
T |
C |
15: 81,566,170 (GRCm39) |
V331A |
possibly damaging |
Het |
Med1 |
A |
T |
11: 98,070,913 (GRCm39) |
V110E |
probably damaging |
Het |
Nsmaf |
A |
C |
4: 6,417,188 (GRCm39) |
Y535* |
probably null |
Het |
Pcdh10 |
G |
A |
3: 45,336,055 (GRCm39) |
V790M |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,292,068 (GRCm39) |
T976A |
probably damaging |
Het |
Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,351,284 (GRCm39) |
|
probably null |
Het |
Rbm5 |
A |
T |
9: 107,642,796 (GRCm39) |
D79E |
probably damaging |
Het |
Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
Rnd3 |
T |
A |
2: 51,038,242 (GRCm39) |
T78S |
possibly damaging |
Het |
Scart2 |
G |
T |
7: 139,878,281 (GRCm39) |
G1003* |
probably null |
Het |
Sgca |
T |
C |
11: 94,863,396 (GRCm39) |
T27A |
possibly damaging |
Het |
Slc10a2 |
C |
T |
8: 5,155,135 (GRCm39) |
D17N |
probably benign |
Het |
Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
Sptb |
T |
A |
12: 76,644,553 (GRCm39) |
T2098S |
probably damaging |
Het |
Srr |
G |
T |
11: 74,803,898 (GRCm39) |
Q20K |
probably benign |
Het |
Stt3b |
A |
T |
9: 115,095,206 (GRCm39) |
F275Y |
probably damaging |
Het |
Sucnr1 |
C |
G |
3: 59,994,215 (GRCm39) |
R248G |
probably damaging |
Het |
Thsd7b |
A |
T |
1: 130,044,356 (GRCm39) |
D1112V |
probably benign |
Het |
Tmem80 |
A |
G |
7: 140,913,692 (GRCm39) |
|
probably benign |
Het |
Top2a |
C |
A |
11: 98,913,786 (GRCm39) |
K18N |
probably damaging |
Het |
Ttc24 |
T |
A |
3: 87,981,946 (GRCm39) |
D40V |
probably damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Zfp3 |
T |
A |
11: 70,662,333 (GRCm39) |
S97R |
probably benign |
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 |
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 |
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'- ACCACTTCTAGTACCGAGTCCC -3'
(R):5'- CAGTCTTCCTCAAGTGCCAC -3'
Sequencing Primer
(F):5'- CTCGTGGGCCCGAGTGG -3'
(R):5'- GTTACCTCCTCCACTGCAAGG -3'
|
Posted On |
2015-05-14 |