Incidental Mutation 'IGL01874:Srcin1'
| ID |
178828 |
| 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 # |
IGL01874
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97400166-97466059 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97423924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 684
(M684K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107590]
[ENSMUST00000107593]
[ENSMUST00000107596]
[ENSMUST00000126287]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107590
AA Change: M685K
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
AA Change: M685K
| 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
AA Change: M685K
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
AA Change: M685K
| 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 |
possibly damaging
Transcript: ENSMUST00000107596
AA Change: M684K
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: M684K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116444
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 |
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 |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
T |
13: 70,916,823 (GRCm39) |
V723D |
possibly damaging |
Het |
| Adgrb1 |
G |
A |
15: 74,413,423 (GRCm39) |
V536I |
possibly damaging |
Het |
| Aox4 |
T |
C |
1: 58,291,243 (GRCm39) |
L787S |
probably damaging |
Het |
| Atp2c1 |
A |
C |
9: 105,326,024 (GRCm39) |
V293G |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,920,001 (GRCm39) |
D170G |
probably damaging |
Het |
| Cdc42 |
T |
C |
4: 137,063,381 (GRCm39) |
I4V |
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,741,729 (GRCm39) |
Q1175R |
possibly damaging |
Het |
| Cox6a1 |
A |
G |
5: 115,483,904 (GRCm39) |
*113Q |
probably null |
Het |
| Crtc2 |
C |
T |
3: 90,165,815 (GRCm39) |
P139L |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,744,969 (GRCm39) |
M121K |
possibly damaging |
Het |
| D630003M21Rik |
C |
A |
2: 158,046,644 (GRCm39) |
G778C |
probably damaging |
Het |
| Dgat1 |
A |
G |
15: 76,387,241 (GRCm39) |
F349L |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,816,602 (GRCm39) |
Y194C |
probably damaging |
Het |
| Fam120b |
T |
A |
17: 15,623,301 (GRCm39) |
C426* |
probably null |
Het |
| Fxyd3 |
A |
G |
7: 30,770,318 (GRCm39) |
|
probably benign |
Het |
| Gin1 |
A |
G |
1: 97,710,797 (GRCm39) |
Y160C |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm11110 |
T |
A |
17: 57,399,693 (GRCm39) |
|
probably benign |
Het |
| Gm1818 |
T |
C |
12: 48,602,973 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1a2 |
T |
C |
9: 3,797,343 (GRCm39) |
S598P |
probably damaging |
Het |
| Hook3 |
T |
A |
8: 26,529,760 (GRCm39) |
N199Y |
possibly damaging |
Het |
| Il10ra |
A |
G |
9: 45,178,458 (GRCm39) |
L41P |
probably damaging |
Het |
| Itgam |
C |
T |
7: 127,714,338 (GRCm39) |
T949I |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,729,188 (GRCm39) |
V123A |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,436,239 (GRCm39) |
A450V |
probably damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,946,080 (GRCm39) |
|
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,355,980 (GRCm39) |
F608L |
probably damaging |
Het |
| Niban2 |
A |
T |
2: 32,795,779 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
T |
10: 14,642,696 (GRCm39) |
Y85F |
probably benign |
Het |
| Nol6 |
A |
C |
4: 41,115,412 (GRCm39) |
L1135R |
probably damaging |
Het |
| Ntan1 |
T |
C |
16: 13,653,077 (GRCm39) |
F278L |
probably benign |
Het |
| Or2n1e |
T |
A |
17: 38,586,408 (GRCm39) |
S249T |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,573,041 (GRCm39) |
T474S |
probably damaging |
Het |
| Pex11b |
T |
A |
3: 96,550,883 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
G |
T |
1: 20,173,459 (GRCm39) |
A3786E |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,552,858 (GRCm39) |
I2098T |
possibly damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,365,362 (GRCm39) |
S169R |
probably benign |
Het |
| Ptbp2 |
A |
G |
3: 119,541,449 (GRCm39) |
V196A |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,754,192 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,060,185 (GRCm39) |
N114D |
probably benign |
Het |
| Slc47a2 |
T |
A |
11: 61,203,685 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,429,124 (GRCm39) |
C298S |
probably damaging |
Het |
| Tenm3 |
G |
T |
8: 48,689,793 (GRCm39) |
Y1915* |
probably null |
Het |
| Tnks1bp1 |
A |
G |
2: 84,888,791 (GRCm39) |
T373A |
probably benign |
Het |
| Trp63 |
A |
C |
16: 25,701,335 (GRCm39) |
N470H |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,628,907 (GRCm39) |
N12703S |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,120,600 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,449,602 (GRCm39) |
Y212F |
probably benign |
Het |
|
| Other mutations in Srcin1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation