Incidental Mutation 'R6756:Srcin1'
ID |
531066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srcin1
|
Ensembl Gene |
ENSMUSG00000038453 |
Gene Name |
SRC kinase signaling inhibitor 1 |
Synonyms |
p140Cap, P140 |
MMRRC Submission |
044872-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6756 (G1)
|
Quality Score |
123.008 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
97400166-97466059 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 97425836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 433
(D433G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116444
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107590]
[ENSMUST00000107593]
[ENSMUST00000107596]
[ENSMUST00000126287]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107590
AA Change: D408G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103216 Gene: ENSMUSG00000038453 AA Change: D408G
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: D408G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103219 Gene: ENSMUSG00000038453 AA Change: D408G
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: D407G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103222 Gene: ENSMUSG00000038453 AA Change: D407G
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 damaging
Transcript: ENSMUST00000126287
AA Change: D433G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116444 Gene: ENSMUSG00000038453 AA Change: D433G
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
C |
T |
1: 71,298,512 (GRCm39) |
|
probably null |
Het |
Adam7 |
T |
C |
14: 68,762,728 (GRCm39) |
T166A |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,984,925 (GRCm39) |
V2070M |
possibly damaging |
Het |
Atp6v1a |
T |
A |
16: 43,909,421 (GRCm39) |
T537S |
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,361,895 (GRCm39) |
E719K |
possibly damaging |
Het |
Clba1 |
T |
C |
12: 112,775,820 (GRCm39) |
L192P |
probably damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,385,080 (GRCm39) |
T250A |
probably damaging |
Het |
Fra10ac1 |
A |
C |
19: 38,204,313 (GRCm39) |
Y88D |
probably damaging |
Het |
Gm21738 |
C |
T |
14: 19,418,824 (GRCm38) |
V35I |
possibly damaging |
Het |
H2-M9 |
G |
T |
17: 36,953,227 (GRCm39) |
H27N |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,303 (GRCm39) |
C1634R |
probably damaging |
Het |
Meiob |
A |
T |
17: 25,058,506 (GRCm39) |
T470S |
possibly damaging |
Het |
Ms4a7 |
T |
C |
19: 11,301,889 (GRCm39) |
H35R |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nf1 |
T |
A |
11: 79,335,413 (GRCm39) |
|
probably null |
Het |
Npc1l1 |
T |
C |
11: 6,165,153 (GRCm39) |
Y1053C |
probably damaging |
Het |
Or4p21 |
T |
C |
2: 88,277,078 (GRCm39) |
D68G |
possibly damaging |
Het |
Or51a25 |
T |
C |
7: 102,373,295 (GRCm39) |
N134S |
probably benign |
Het |
Pcdh10 |
T |
C |
3: 45,334,541 (GRCm39) |
V285A |
possibly damaging |
Het |
Phldb2 |
A |
T |
16: 45,628,683 (GRCm39) |
C550S |
probably benign |
Het |
Phldb3 |
T |
C |
7: 24,326,756 (GRCm39) |
Y595H |
probably damaging |
Het |
Plekha8 |
C |
T |
6: 54,601,125 (GRCm39) |
Q288* |
probably null |
Het |
Ppp1r36 |
G |
A |
12: 76,474,696 (GRCm39) |
A64T |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,873,536 (GRCm39) |
T1320A |
probably damaging |
Het |
R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
Recql4 |
T |
C |
15: 76,589,059 (GRCm39) |
D943G |
probably benign |
Het |
Slc24a2 |
A |
G |
4: 87,094,529 (GRCm39) |
I330T |
probably benign |
Het |
Upb1 |
A |
G |
10: 75,264,135 (GRCm39) |
T194A |
possibly damaging |
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 |
|
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 |
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'- TTGTACAGCGAGTCCTCCAG -3'
(R):5'- CTTCTGCTCAGAGAGAAATGGTTTAC -3'
Sequencing Primer
(F):5'- AGTCCTCCAGGTCGGACTG -3'
(R):5'- AGAAATGGTTTACGCGTCGC -3'
|
Posted On |
2018-08-01 |