Incidental Mutation 'R4414:Src'
ID |
328049 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Src
|
Ensembl Gene |
ENSMUSG00000027646 |
Gene Name |
Rous sarcoma oncogene |
Synonyms |
pp60c-src |
MMRRC Submission |
041694-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.888)
|
Stock # |
R4414 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
157265828-157313758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 157306573 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 192
(D192G)
|
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: D192G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029175 Gene: ENSMUSG00000027646 AA Change: D192G
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: D198G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090237 Gene: ENSMUSG00000027646 AA Change: D198G
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: D198G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105155 Gene: ENSMUSG00000027646 AA Change: D198G
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: D192G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105157 Gene: ENSMUSG00000027646 AA Change: D192G
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: D192G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105159 Gene: ENSMUSG00000027646 AA Change: D192G
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 |
|
Meta Mutation Damage Score |
0.9315 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (50/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
T |
A |
14: 44,406,690 (GRCm39) |
M120L |
probably benign |
Het |
Aco2 |
A |
G |
15: 81,773,584 (GRCm39) |
|
probably null |
Het |
Acss1 |
A |
G |
2: 150,501,823 (GRCm39) |
S115P |
possibly damaging |
Het |
Ank2 |
A |
T |
3: 127,019,411 (GRCm39) |
|
probably null |
Het |
AU041133 |
C |
T |
10: 81,987,316 (GRCm39) |
T323M |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
Bod1l |
G |
A |
5: 41,977,870 (GRCm39) |
T1148I |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,847,334 (GRCm39) |
V1468I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,812,200 (GRCm39) |
V2065A |
probably damaging |
Het |
Cep89 |
A |
G |
7: 35,115,822 (GRCm39) |
|
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,941,480 (GRCm39) |
K283E |
possibly damaging |
Het |
Cog5 |
C |
T |
12: 31,710,853 (GRCm39) |
Q78* |
probably null |
Het |
Col20a1 |
C |
T |
2: 180,643,043 (GRCm39) |
R796C |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,165,840 (GRCm39) |
T502S |
probably benign |
Het |
Dnm1l |
A |
G |
16: 16,160,559 (GRCm39) |
|
probably null |
Het |
Dse |
A |
T |
10: 34,028,632 (GRCm39) |
F819L |
probably benign |
Het |
Eloa |
G |
T |
4: 135,738,553 (GRCm39) |
L136I |
possibly damaging |
Het |
Eloa |
T |
A |
4: 135,738,576 (GRCm39) |
H128L |
probably benign |
Het |
Fbxl6 |
T |
C |
15: 76,421,924 (GRCm39) |
E205G |
possibly damaging |
Het |
Golim4 |
T |
G |
3: 75,802,347 (GRCm39) |
N287T |
probably benign |
Het |
Gpx8 |
T |
A |
13: 113,179,682 (GRCm39) |
K206N |
possibly damaging |
Het |
Iqgap3 |
G |
T |
3: 88,004,293 (GRCm39) |
V460F |
probably benign |
Het |
Kcne4 |
A |
T |
1: 78,795,651 (GRCm39) |
M100L |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,721,077 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
G |
A |
14: 47,962,387 (GRCm39) |
W1117* |
probably null |
Het |
Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
Lmln |
T |
G |
16: 32,930,220 (GRCm39) |
I559S |
probably benign |
Het |
Mapk4 |
A |
T |
18: 74,063,609 (GRCm39) |
F538I |
possibly damaging |
Het |
Mlxipl |
A |
G |
5: 135,166,253 (GRCm39) |
|
probably benign |
Het |
Mmrn1 |
T |
C |
6: 60,921,570 (GRCm39) |
L9P |
probably damaging |
Het |
Mnat1 |
G |
A |
12: 73,228,601 (GRCm39) |
R155H |
probably damaging |
Het |
Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
Naaladl1 |
T |
C |
19: 6,165,581 (GRCm39) |
L745P |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,467,546 (GRCm39) |
D1409E |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
Pla2g4e |
A |
T |
2: 120,013,194 (GRCm39) |
H375Q |
probably benign |
Het |
Prodh2 |
G |
A |
7: 30,205,877 (GRCm39) |
V238M |
probably damaging |
Het |
Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
Rho |
G |
A |
6: 115,912,191 (GRCm39) |
V76I |
probably benign |
Het |
Rock1 |
A |
T |
18: 10,080,514 (GRCm39) |
M1010K |
probably damaging |
Het |
Ros1 |
A |
G |
10: 52,038,800 (GRCm39) |
|
probably null |
Het |
Sim1 |
A |
T |
10: 50,857,708 (GRCm39) |
D486V |
probably benign |
Het |
Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,006,554 (GRCm39) |
Y54C |
probably damaging |
Het |
Try4 |
C |
T |
6: 41,281,905 (GRCm39) |
P164S |
possibly damaging |
Het |
Vegfc |
A |
T |
8: 54,634,130 (GRCm39) |
N270Y |
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 |
R4112:Src
|
UTSW |
2 |
157,304,946 (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'- TGTCTTACCAGGGCTGTGAG -3'
(R):5'- TCCCTTCTAGCGTGCTCAAG -3'
Sequencing Primer
(F):5'- TGAGGCACAGGGGCATGTC -3'
(R):5'- TCCTCACTGGCCAGCTG -3'
|
Posted On |
2015-07-07 |