Incidental Mutation 'IGL03347:Srcin1'
| ID |
419532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srcin1
|
| Ensembl Gene |
ENSMUSG00000038453 |
| Gene Name |
SRC kinase signaling inhibitor 1 |
| Synonyms |
p140Cap, P140 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97400166-97466059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97416170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1021
(S1021T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107590]
[ENSMUST00000107593]
[ENSMUST00000107596]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107590
AA Change: S1022T
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
AA Change: S1022T
| 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 damaging
Transcript: ENSMUST00000107593
AA Change: S1022T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
AA Change: S1022T
| 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 damaging
Transcript: ENSMUST00000107596
AA Change: S1021T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: S1021T
| 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 |
noncoding transcript
Transcript: ENSMUST00000134289
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
T |
A |
9: 30,870,534 (GRCm39) |
S670T |
possibly damaging |
Het |
| Adamts9 |
G |
T |
6: 92,864,413 (GRCm39) |
Y185* |
probably null |
Het |
| Ahcyl |
A |
G |
16: 45,974,852 (GRCm39) |
V175A |
probably benign |
Het |
| Arid3a |
T |
A |
10: 79,787,113 (GRCm39) |
S512R |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,872,214 (GRCm39) |
V524A |
probably damaging |
Het |
| Camk2d |
A |
G |
3: 126,590,550 (GRCm39) |
T254A |
probably damaging |
Het |
| Camsap2 |
G |
T |
1: 136,208,724 (GRCm39) |
Q923K |
possibly damaging |
Het |
| Car10 |
G |
A |
11: 92,991,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,891,992 (GRCm39) |
L160P |
probably damaging |
Het |
| Cdh20 |
A |
T |
1: 110,065,973 (GRCm39) |
D749V |
possibly damaging |
Het |
| Cox6a2 |
A |
T |
7: 127,804,900 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
A |
T |
2: 155,921,096 (GRCm39) |
Y65N |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,243,199 (GRCm39) |
D8G |
probably benign |
Het |
| Emsy |
A |
G |
7: 98,259,892 (GRCm39) |
S140P |
probably damaging |
Het |
| Fam13b |
G |
A |
18: 34,595,104 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,146,737 (GRCm39) |
R2720G |
probably damaging |
Het |
| Fkbpl |
A |
G |
17: 34,865,287 (GRCm39) |
|
probably benign |
Het |
| Gpr179 |
A |
G |
11: 97,242,664 (GRCm39) |
L60P |
probably damaging |
Het |
| Iftap |
A |
G |
2: 101,413,864 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
T |
3: 59,239,321 (GRCm39) |
S287T |
possibly damaging |
Het |
| Kat2b |
G |
A |
17: 53,931,379 (GRCm39) |
|
probably null |
Het |
| Kazald1 |
A |
G |
19: 45,066,855 (GRCm39) |
D218G |
possibly damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,814,005 (GRCm39) |
E216G |
probably benign |
Het |
| Mtmr9 |
C |
A |
14: 63,781,016 (GRCm39) |
V25L |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,120 (GRCm39) |
|
probably null |
Het |
| Nfkbil1 |
A |
T |
17: 35,439,559 (GRCm39) |
V318E |
probably damaging |
Het |
| Or2ag15 |
A |
T |
7: 106,340,177 (GRCm39) |
|
probably benign |
Het |
| Or5g9 |
T |
C |
2: 85,552,151 (GRCm39) |
V134A |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,019,081 (GRCm39) |
V800A |
probably damaging |
Het |
| Ptprs |
G |
A |
17: 56,742,972 (GRCm39) |
S390L |
probably benign |
Het |
| Ralgapb |
G |
A |
2: 158,307,880 (GRCm39) |
V729I |
possibly damaging |
Het |
| Sfrp5 |
T |
A |
19: 42,187,207 (GRCm39) |
M288L |
probably benign |
Het |
| Slc26a1 |
C |
A |
5: 108,821,676 (GRCm39) |
G71V |
probably damaging |
Het |
| Supt6 |
A |
T |
11: 78,123,011 (GRCm39) |
M124K |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,705,633 (GRCm39) |
F1157S |
probably damaging |
Het |
| Tmcc2 |
A |
G |
1: 132,285,390 (GRCm39) |
S424P |
probably damaging |
Het |
| Trim37 |
G |
A |
11: 87,092,447 (GRCm39) |
R752Q |
possibly damaging |
Het |
| Unc80 |
A |
T |
1: 66,734,625 (GRCm39) |
Q238L |
probably damaging |
Het |
| Vmn2r23 |
C |
A |
6: 123,681,333 (GRCm39) |
H80Q |
probably benign |
Het |
| Wnt9a |
A |
T |
11: 59,221,740 (GRCm39) |
T213S |
probably damaging |
Het |
| Zfp953 |
T |
A |
13: 67,491,490 (GRCm39) |
Q154L |
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 |
|
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 |
|
|
R5705:Srcin1
|
UTSW |
11 |
97,439,777 (GRCm39) |
missense |
probably benign |
0.42 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation