Incidental Mutation 'IGL01452:Src'
| ID |
84673 |
| 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 # |
IGL01452
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
157265828-157313758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 157304903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 151
(Y151N)
|
| 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: Y151N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029175
Gene: ENSMUSG00000027646
AA Change: Y151N
| 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: Y157N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090237
Gene: ENSMUSG00000027646
AA Change: Y157N
| 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: Y157N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105155
Gene: ENSMUSG00000027646
AA Change: Y157N
| 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: Y151N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105157
Gene: ENSMUSG00000027646
AA Change: Y151N
| 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: Y151N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105159
Gene: ENSMUSG00000027646
AA Change: Y151N
| 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
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bltp1 |
T |
A |
3: 37,050,457 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,733,515 (GRCm39) |
N344D |
probably damaging |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,428 (GRCm39) |
|
probably benign |
Het |
| Ddx19b |
A |
G |
8: 111,747,620 (GRCm39) |
S105P |
probably damaging |
Het |
| Dpf3 |
C |
A |
12: 83,316,263 (GRCm39) |
R336L |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,836,181 (GRCm39) |
S720P |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,478,825 (GRCm39) |
L427P |
unknown |
Het |
| Hdac11 |
A |
G |
6: 91,144,843 (GRCm39) |
D157G |
probably damaging |
Het |
| Klk13 |
G |
T |
7: 43,376,060 (GRCm39) |
R245L |
possibly damaging |
Het |
| Med25 |
C |
T |
7: 44,532,255 (GRCm39) |
M367I |
possibly damaging |
Het |
| Mindy3 |
G |
A |
2: 12,360,083 (GRCm39) |
|
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,371,292 (GRCm39) |
L3269F |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,564,771 (GRCm39) |
S1041P |
probably damaging |
Het |
| Pcnx4 |
G |
T |
12: 72,621,174 (GRCm39) |
G998V |
possibly damaging |
Het |
| Ptprk |
G |
A |
10: 28,450,913 (GRCm39) |
|
probably null |
Het |
| Scn9a |
A |
G |
2: 66,357,416 (GRCm39) |
F951L |
probably damaging |
Het |
| Septin11 |
A |
C |
5: 93,309,063 (GRCm39) |
K248Q |
possibly damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,091,176 (GRCm39) |
M119K |
possibly damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,656,475 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably 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 |
|
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 |
2013-11-11 |
Incidental Mutation