Incidental Mutation 'R5705:Srcin1'
| ID |
451940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srcin1
|
| Ensembl Gene |
ENSMUSG00000038453 |
| Gene Name |
SRC kinase signaling inhibitor 1 |
| Synonyms |
p140Cap, P140 |
| MMRRC Submission |
043330-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5705 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
97400166-97466059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97439777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 152
(C152R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107590]
[ENSMUST00000107593]
[ENSMUST00000107596]
[ENSMUST00000126287]
[ENSMUST00000207653]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107590
|
| SMART Domains |
Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
Blast:THAP
|
113 |
142 |
1e-9 |
BLAST |
|
low complexity region
|
332 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
712 |
N/A |
INTRINSIC |
|
coiled coil region
|
751 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1051 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107593
|
| SMART Domains |
Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
Blast:THAP
|
113 |
142 |
1e-9 |
BLAST |
|
low complexity region
|
332 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
501 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
558 |
575 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
699 |
712 |
N/A |
INTRINSIC |
|
coiled coil region
|
751 |
784 |
N/A |
INTRINSIC |
|
low complexity region
|
1034 |
1051 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107596
AA Change: C118R
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: C118R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
41 |
N/A |
INTRINSIC |
|
Blast:THAP
|
79 |
108 |
8e-10 |
BLAST |
|
low complexity region
|
118 |
128 |
N/A |
INTRINSIC |
|
Pfam:AIP3
|
218 |
330 |
2e-11 |
PFAM |
|
low complexity region
|
331 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
654 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
|
coiled coil region
|
750 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
1033 |
1050 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126287
AA Change: C152R
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116444
Gene: ENSMUSG00000038453
AA Change: C152R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
Blast:THAP
|
113 |
142 |
7e-10 |
BLAST |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
Pfam:AIP3
|
244 |
339 |
9.7e-10 |
PFAM |
|
low complexity region
|
357 |
391 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142123
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207653
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele display abnormalities in object recognition memory and motor learning, dendritic spine disorganization, impaired synaptic plasticity, and reduced long term potentiation and long term depression. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
| Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,641 (GRCm39) |
L213I |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
| Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,454,066 (GRCm39) |
T28I |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
| Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
| Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
| Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,473,034 (GRCm39) |
V91A |
probably benign |
Het |
| Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
| Esyt3 |
A |
G |
9: 99,200,260 (GRCm39) |
S645P |
probably benign |
Het |
| Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
| Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
| Gnl1 |
G |
A |
17: 36,292,492 (GRCm39) |
V191I |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
| Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
| Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,354,349 (GRCm39) |
Y473C |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,531,732 (GRCm39) |
V181A |
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
| Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
| Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
| Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
| Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
| Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
| Pisd |
C |
T |
5: 32,894,707 (GRCm39) |
R533H |
probably benign |
Het |
| Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
| Polr1b |
A |
T |
2: 128,947,271 (GRCm39) |
K199* |
probably null |
Het |
| Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
| Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
| Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
| Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
| Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
| Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
| Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
| Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
probably benign |
Het |
|
| Other mutations in Srcin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01874:Srcin1
|
APN |
11 |
97,423,924 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03347:Srcin1
|
APN |
11 |
97,416,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Srcin1
|
UTSW |
11 |
97,416,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1678:Srcin1
|
UTSW |
11 |
97,409,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1733:Srcin1
|
UTSW |
11 |
97,424,327 (GRCm39) |
missense |
probably benign |
|
|
R2023:Srcin1
|
UTSW |
11 |
97,416,872 (GRCm39) |
missense |
probably benign |
|
|
R2238:Srcin1
|
UTSW |
11 |
97,425,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3983:Srcin1
|
UTSW |
11 |
97,416,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4572:Srcin1
|
UTSW |
11 |
97,425,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Srcin1
|
UTSW |
11 |
97,439,752 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4946:Srcin1
|
UTSW |
11 |
97,442,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Srcin1
|
UTSW |
11 |
97,464,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5424:Srcin1
|
UTSW |
11 |
97,427,885 (GRCm39) |
nonsense |
probably null |
|
|
R5918:Srcin1
|
UTSW |
11 |
97,424,323 (GRCm39) |
splice site |
probably null |
|
|
R6563:Srcin1
|
UTSW |
11 |
97,425,600 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6613:Srcin1
|
UTSW |
11 |
97,424,653 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6756:Srcin1
|
UTSW |
11 |
97,425,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6805:Srcin1
|
UTSW |
11 |
97,442,806 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7060:Srcin1
|
UTSW |
11 |
97,464,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7271:Srcin1
|
UTSW |
11 |
97,442,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7304:Srcin1
|
UTSW |
11 |
97,442,519 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7469:Srcin1
|
UTSW |
11 |
97,425,435 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7567:Srcin1
|
UTSW |
11 |
97,425,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Srcin1
|
UTSW |
11 |
97,416,926 (GRCm39) |
nonsense |
probably null |
|
|
R7994:Srcin1
|
UTSW |
11 |
97,422,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8203:Srcin1
|
UTSW |
11 |
97,457,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Srcin1
|
UTSW |
11 |
97,442,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8488:Srcin1
|
UTSW |
11 |
97,416,686 (GRCm39) |
splice site |
probably null |
|
|
R8559:Srcin1
|
UTSW |
11 |
97,427,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8690:Srcin1
|
UTSW |
11 |
97,414,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Srcin1
|
UTSW |
11 |
97,439,803 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8982:Srcin1
|
UTSW |
11 |
97,426,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9061:Srcin1
|
UTSW |
11 |
97,427,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Srcin1
|
UTSW |
11 |
97,416,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9632:Srcin1
|
UTSW |
11 |
97,442,648 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0024:Srcin1
|
UTSW |
11 |
97,427,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Srcin1
|
UTSW |
11 |
97,409,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1177:Srcin1
|
UTSW |
11 |
97,417,687 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGAAAGTGGAGTATTCGCAC -3'
(R):5'- ACAGAAATACTTGGGGCCCTAC -3'
Sequencing Primer
(F):5'- GTGGAGTATTCGCACATAAAAGAG -3'
(R):5'- TTGGGGCCCTACTTAAAAGTACCAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation