Incidental Mutation 'IGL02618:Src'
| ID |
300731 |
| 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: 0.888)
|
| Stock # |
IGL02618
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
157265828-157313758 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 157306698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 234
(K234*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029175]
[ENSMUST00000092576]
[ENSMUST00000109529]
[ENSMUST00000109531]
[ENSMUST00000109533]
|
| AlphaFold |
P05480 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029175
AA Change: K234*
|
| SMART Domains |
Protein: ENSMUSP00000029175
Gene: ENSMUSG00000027646
AA Change: K234*
| 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 null
Transcript: ENSMUST00000092576
AA Change: K240*
|
| SMART Domains |
Protein: ENSMUSP00000090237
Gene: ENSMUSG00000027646
AA Change: K240*
| 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 null
Transcript: ENSMUST00000109529
AA Change: K240*
|
| SMART Domains |
Protein: ENSMUSP00000105155
Gene: ENSMUSG00000027646
AA Change: K240*
| 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 null
Transcript: ENSMUST00000109531
AA Change: K234*
|
| SMART Domains |
Protein: ENSMUSP00000105157
Gene: ENSMUSG00000027646
AA Change: K234*
| 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 null
Transcript: ENSMUST00000109533
AA Change: K234*
|
| SMART Domains |
Protein: ENSMUSP00000105159
Gene: ENSMUSG00000027646
AA Change: K234*
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
A |
12: 55,104,086 (GRCm39) |
Q178* |
probably null |
Het |
| Adgre1 |
T |
A |
17: 57,751,021 (GRCm39) |
V565E |
possibly damaging |
Het |
| Arfgef2 |
C |
A |
2: 166,695,233 (GRCm39) |
N535K |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,068,161 (GRCm39) |
L161S |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,199,274 (GRCm39) |
S224P |
probably damaging |
Het |
| Car2 |
A |
G |
3: 14,963,032 (GRCm39) |
D189G |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,446,983 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
C |
T |
12: 100,879,812 (GRCm39) |
V1770I |
probably benign |
Het |
| Cebpe |
T |
C |
14: 54,948,234 (GRCm39) |
D203G |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,197,422 (GRCm39) |
N104S |
probably damaging |
Het |
| Clec2i |
G |
A |
6: 128,873,464 (GRCm39) |
C231Y |
probably damaging |
Het |
| Col4a5 |
C |
T |
X: 140,466,678 (GRCm39) |
P1557S |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,813,543 (GRCm39) |
N498S |
probably benign |
Het |
| Ctnnal1 |
A |
T |
4: 56,817,060 (GRCm39) |
D587E |
probably benign |
Het |
| Dnmt3l |
T |
C |
10: 77,889,856 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,971,265 (GRCm39) |
V100A |
probably benign |
Het |
| Frk |
C |
T |
10: 34,459,960 (GRCm39) |
T185I |
possibly damaging |
Het |
| Frmd4b |
G |
A |
6: 97,285,066 (GRCm39) |
Q340* |
probably null |
Het |
| Lima1 |
C |
A |
15: 99,700,097 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,882,486 (GRCm39) |
L522P |
probably damaging |
Het |
| Ndrg1 |
G |
A |
15: 66,812,086 (GRCm39) |
H202Y |
probably benign |
Het |
| Nxpe2 |
T |
G |
9: 48,237,634 (GRCm39) |
N207T |
probably damaging |
Het |
| Or5ac19 |
A |
T |
16: 59,089,290 (GRCm39) |
S247T |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,186,068 (GRCm39) |
|
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,105,969 (GRCm39) |
D75G |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,823,130 (GRCm39) |
D370E |
probably benign |
Het |
| Polb |
A |
T |
8: 23,127,109 (GRCm39) |
L228Q |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,983,938 (GRCm39) |
I521N |
possibly damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,627,955 (GRCm39) |
D1045G |
probably damaging |
Het |
| Rbks |
A |
T |
5: 31,781,863 (GRCm39) |
Y312* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Stk36 |
C |
A |
1: 74,670,834 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,038,388 (GRCm39) |
C412F |
probably benign |
Het |
| Zfp58 |
A |
G |
13: 67,639,475 (GRCm39) |
F339L |
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 |
|
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