Incidental Mutation 'IGL01320:Src'
| ID |
278274 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Src
|
| Ensembl Gene |
ENSMUSG00000027646 |
| Gene Name |
Rous sarcoma oncogene |
| Synonyms |
pp60c-src |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.901)
|
| Stock # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
157265828-157313758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 157311423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 461
(G461R)
|
| 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: G461R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029175
Gene: ENSMUSG00000027646
AA Change: G461R
| 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: G467R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090237
Gene: ENSMUSG00000027646
AA Change: G467R
| 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: G467R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105155
Gene: ENSMUSG00000027646
AA Change: G467R
| 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: G461R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105157
Gene: ENSMUSG00000027646
AA Change: G461R
| 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: G461R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105159
Gene: ENSMUSG00000027646
AA Change: G461R
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Stac2 |
T |
C |
11: 97,930,921 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation