Incidental Mutation 'R5424:Srcin1'
| ID |
426771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srcin1
|
| Ensembl Gene |
ENSMUSG00000038453 |
| Gene Name |
SRC kinase signaling inhibitor 1 |
| Synonyms |
p140Cap, P140 |
| MMRRC Submission |
042990-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5424 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
97400166-97466059 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 97427885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 236
(K236*)
|
| 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 null
Transcript: ENSMUST00000107590
AA Change: K211*
|
| SMART Domains |
Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
AA Change: K211*
| 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 null
Transcript: ENSMUST00000107593
AA Change: K211*
|
| SMART Domains |
Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
AA Change: K211*
| 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 null
Transcript: ENSMUST00000107596
AA Change: K210*
|
| SMART Domains |
Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: K210*
| 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 null
Transcript: ENSMUST00000126287
AA Change: K236*
|
| SMART Domains |
Protein: ENSMUSP00000116444
Gene: ENSMUSG00000038453
AA Change: K236*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (59/59) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
C |
A |
1: 130,670,678 (GRCm39) |
A300D |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,810,777 (GRCm39) |
Y119H |
probably benign |
Het |
| Actb |
A |
G |
5: 142,891,306 (GRCm39) |
|
probably benign |
Het |
| Ada |
T |
A |
2: 163,570,045 (GRCm39) |
K323* |
probably null |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Aire |
A |
T |
10: 77,872,553 (GRCm39) |
V355E |
probably damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,969,443 (GRCm39) |
I117M |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,789,942 (GRCm39) |
F465L |
probably damaging |
Het |
| Cpne8 |
T |
A |
15: 90,400,260 (GRCm39) |
M345L |
probably benign |
Het |
| Ddx54 |
T |
C |
5: 120,757,926 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
T |
G |
1: 181,590,875 (GRCm39) |
M3256R |
possibly damaging |
Het |
| Epha2 |
T |
A |
4: 141,046,251 (GRCm39) |
Y483* |
probably null |
Het |
| Ermard |
T |
A |
17: 15,280,032 (GRCm39) |
S509T |
possibly damaging |
Het |
| Fam186a |
G |
T |
15: 99,843,644 (GRCm39) |
H867N |
unknown |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gas8 |
C |
A |
8: 124,253,251 (GRCm39) |
L200I |
possibly damaging |
Het |
| Gfra2 |
A |
T |
14: 71,133,287 (GRCm39) |
D39V |
probably damaging |
Het |
| Gm10770 |
T |
C |
2: 150,020,948 (GRCm39) |
T190A |
probably benign |
Het |
| Gm2617 |
T |
C |
19: 9,301,320 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,805,017 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
T |
A |
9: 107,929,204 (GRCm39) |
|
probably null |
Het |
| Ifit2 |
T |
A |
19: 34,551,458 (GRCm39) |
C333S |
probably benign |
Het |
| Ighg2b |
T |
C |
12: 113,271,550 (GRCm39) |
K1R |
unknown |
Het |
| Impdh2-ps |
G |
T |
8: 100,758,141 (GRCm39) |
|
noncoding transcript |
Het |
| Kdelr2 |
A |
C |
5: 143,403,899 (GRCm39) |
E96A |
probably benign |
Het |
| Lama2 |
G |
A |
10: 26,860,392 (GRCm39) |
R3032C |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,087,324 (GRCm39) |
I166F |
probably damaging |
Het |
| Lrrc8b |
T |
C |
5: 105,628,569 (GRCm39) |
V305A |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,695 (GRCm39) |
H128R |
probably benign |
Het |
| Mgat4a |
A |
G |
1: 37,505,636 (GRCm39) |
V189A |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,971,094 (GRCm39) |
E1033V |
probably damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,059,873 (GRCm39) |
V80A |
probably benign |
Het |
| Ndrg2 |
A |
G |
14: 52,146,342 (GRCm39) |
S153P |
probably damaging |
Het |
| Nelfa |
C |
T |
5: 34,079,189 (GRCm39) |
|
probably null |
Het |
| Nes |
G |
T |
3: 87,886,131 (GRCm39) |
E1419D |
possibly damaging |
Het |
| Nipa1 |
C |
A |
7: 55,629,223 (GRCm39) |
V297L |
possibly damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,807 (GRCm39) |
I254K |
probably benign |
Het |
| Or56b35 |
T |
C |
7: 104,963,778 (GRCm39) |
V189A |
possibly damaging |
Het |
| Or8k24 |
G |
A |
2: 86,216,184 (GRCm39) |
Q193* |
probably null |
Het |
| Pcdhga7 |
G |
A |
18: 37,848,388 (GRCm39) |
A132T |
probably benign |
Het |
| Pla1a |
T |
A |
16: 38,235,137 (GRCm39) |
I186F |
probably damaging |
Het |
| Plscr4 |
T |
A |
9: 92,372,075 (GRCm39) |
M282K |
possibly damaging |
Het |
| Rpl22l1 |
T |
C |
3: 28,861,047 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,330,800 (GRCm39) |
D1246G |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,006,471 (GRCm39) |
S932G |
possibly damaging |
Het |
| Slc51a |
C |
A |
16: 32,297,565 (GRCm39) |
A111S |
probably benign |
Het |
| Tbxas1 |
A |
G |
6: 39,004,839 (GRCm39) |
D362G |
possibly damaging |
Het |
| Tcl1b5 |
T |
C |
12: 105,146,275 (GRCm39) |
I116T |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,929,522 (GRCm39) |
M251L |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,950,272 (GRCm39) |
Q778L |
possibly damaging |
Het |
| Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
| Zfp622 |
T |
C |
15: 25,984,855 (GRCm39) |
C74R |
probably damaging |
Het |
| Zfp646 |
C |
A |
7: 127,481,875 (GRCm39) |
H1351N |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGGACGCAGAAATGGC -3'
(R):5'- TATGTTATCTGGCCGGAGCTC -3'
Sequencing Primer
(F):5'- GCTGGCGAAAACACCGG -3'
(R):5'- CCCAGATGGAGGCAGTGAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation