Incidental Mutation 'IGL01323:Src'
| ID |
278283 |
| 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 # |
IGL01323
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
A |
G |
2: 166,713,415 (GRCm39) |
D1272G |
probably damaging |
Het |
| Ascl2 |
A |
G |
7: 142,522,125 (GRCm39) |
S108P |
probably benign |
Het |
| B3gat1 |
T |
C |
9: 26,667,206 (GRCm39) |
V146A |
possibly damaging |
Het |
| Barhl1 |
C |
T |
2: 28,805,558 (GRCm39) |
S45N |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,929,920 (GRCm39) |
A2370V |
probably damaging |
Het |
| C1qtnf7 |
A |
G |
5: 43,766,602 (GRCm39) |
D67G |
possibly damaging |
Het |
| Cand2 |
A |
G |
6: 115,762,086 (GRCm39) |
T171A |
probably benign |
Het |
| Ccdc77 |
T |
C |
6: 120,311,757 (GRCm39) |
Q247R |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,801,118 (GRCm39) |
V100D |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,739,612 (GRCm39) |
T3A |
probably benign |
Het |
| Eef2k |
T |
C |
7: 120,484,038 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
C |
3: 82,937,518 (GRCm39) |
S132P |
probably damaging |
Het |
| Gpr6 |
T |
A |
10: 40,947,555 (GRCm39) |
N9I |
possibly damaging |
Het |
| Gvin2 |
A |
G |
7: 105,546,009 (GRCm39) |
S2348P |
possibly damaging |
Het |
| Hacd3 |
A |
G |
9: 64,905,587 (GRCm39) |
F184L |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,413,819 (GRCm39) |
I132T |
possibly damaging |
Het |
| Igfbp7 |
A |
G |
5: 77,499,884 (GRCm39) |
|
probably benign |
Het |
| Ighv8-6 |
T |
C |
12: 115,129,477 (GRCm39) |
D93G |
possibly damaging |
Het |
| Izumo3 |
A |
G |
4: 92,034,627 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,716,165 (GRCm39) |
T347A |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,128,787 (GRCm39) |
T419A |
probably benign |
Het |
| Krt34 |
A |
G |
11: 99,929,606 (GRCm39) |
S267P |
possibly damaging |
Het |
| Krt4 |
T |
G |
15: 101,828,716 (GRCm39) |
K383Q |
probably damaging |
Het |
| Lgals7 |
G |
T |
7: 28,564,989 (GRCm39) |
E42D |
probably benign |
Het |
| Morc2b |
A |
G |
17: 33,356,293 (GRCm39) |
V493A |
possibly damaging |
Het |
| Mtif2 |
T |
A |
11: 29,491,447 (GRCm39) |
S557R |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,545,320 (GRCm39) |
F83I |
probably benign |
Het |
| Oosp2 |
A |
G |
19: 11,624,825 (GRCm39) |
L155S |
probably damaging |
Het |
| Or1o1 |
G |
T |
17: 37,717,031 (GRCm39) |
M197I |
probably benign |
Het |
| Plxnd1 |
T |
A |
6: 115,943,760 (GRCm39) |
T1180S |
possibly damaging |
Het |
| Prpf39 |
T |
A |
12: 65,089,498 (GRCm39) |
F79I |
possibly damaging |
Het |
| Prph |
G |
A |
15: 98,956,517 (GRCm39) |
S465N |
possibly damaging |
Het |
| Purg |
A |
T |
8: 33,876,631 (GRCm39) |
I90L |
probably damaging |
Het |
| Pxdn |
C |
A |
12: 30,037,136 (GRCm39) |
Q305K |
probably benign |
Het |
| R3hdm1 |
G |
A |
1: 128,144,280 (GRCm39) |
S816N |
probably benign |
Het |
| Tmem201 |
G |
A |
4: 149,804,045 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf22 |
G |
A |
7: 143,197,111 (GRCm39) |
P76L |
probably damaging |
Het |
| Triml1 |
T |
C |
8: 43,591,600 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
G |
11: 9,086,100 (GRCm39) |
*312W |
probably null |
Het |
| Wdfy3 |
G |
T |
5: 102,042,930 (GRCm39) |
S1940R |
probably damaging |
Het |
| Xpc |
T |
C |
6: 91,469,335 (GRCm39) |
Y804C |
probably damaging |
Het |
| Xrn2 |
C |
T |
2: 146,876,767 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,354,945 (GRCm39) |
D1275E |
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 |
|
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