Incidental Mutation 'IGL03388:Sel1l2'
| ID |
420967 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sel1l2
|
| Ensembl Gene |
ENSMUSG00000074764 |
| Gene Name |
sel-1 suppressor of lin-12-like 2 (C. elegans) |
| Synonyms |
LOC228684 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
IGL03388
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
140071775-140231626 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 140105284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122367]
|
| AlphaFold |
Q3V172 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122367
|
| SMART Domains |
Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
70 |
83 |
N/A |
INTRINSIC |
|
SEL1
|
107 |
142 |
1.99e2 |
SMART |
|
SEL1
|
143 |
178 |
3.3e1 |
SMART |
|
SEL1
|
179 |
214 |
5.7e-1 |
SMART |
|
SEL1
|
215 |
250 |
6.3e-3 |
SMART |
|
SEL1
|
297 |
333 |
6.59e-6 |
SMART |
|
SEL1
|
334 |
370 |
1.32e-5 |
SMART |
|
SEL1
|
371 |
406 |
4.55e-9 |
SMART |
|
SEL1
|
407 |
442 |
4.02e-10 |
SMART |
|
SEL1
|
443 |
478 |
2.72e-7 |
SMART |
|
Blast:SEL1
|
511 |
550 |
9e-13 |
BLAST |
|
SEL1
|
551 |
586 |
1.01e-6 |
SMART |
|
SEL1
|
588 |
623 |
4.55e-9 |
SMART |
|
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
C |
11: 117,693,596 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,801 (GRCm39) |
K340R |
possibly damaging |
Het |
| Ccr3 |
A |
G |
9: 123,828,658 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,560,992 (GRCm39) |
|
probably benign |
Het |
| Clasp1 |
T |
A |
1: 118,433,233 (GRCm39) |
D237E |
possibly damaging |
Het |
| Ddx18 |
T |
C |
1: 121,493,652 (GRCm39) |
K111E |
possibly damaging |
Het |
| Defa21 |
T |
C |
8: 21,515,764 (GRCm39) |
L54P |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,416,208 (GRCm39) |
V486A |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,838,368 (GRCm39) |
D3143V |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,131,916 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,702,105 (GRCm39) |
Y510C |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
| Fmo1 |
A |
G |
1: 162,663,716 (GRCm39) |
V271A |
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,799,113 (GRCm39) |
V460A |
probably benign |
Het |
| Hspa8 |
T |
C |
9: 40,716,224 (GRCm39) |
|
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,151,356 (GRCm39) |
E166G |
probably damaging |
Het |
| Il31ra |
C |
A |
13: 112,682,746 (GRCm39) |
S120I |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,060 (GRCm39) |
T1323A |
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,854,247 (GRCm39) |
I346F |
probably damaging |
Het |
| Lgi2 |
T |
C |
5: 52,695,819 (GRCm39) |
D372G |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,923,157 (GRCm39) |
S1187A |
probably benign |
Het |
| Nr1d2 |
A |
G |
14: 18,215,403 (GRCm38) |
F203S |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,077,351 (GRCm39) |
V896I |
probably damaging |
Het |
| Nxf7 |
T |
C |
X: 134,485,489 (GRCm39) |
K440E |
probably damaging |
Het |
| Or6c206 |
A |
T |
10: 129,097,312 (GRCm39) |
I161F |
probably benign |
Het |
| Or9i1b |
T |
A |
19: 13,896,984 (GRCm39) |
V200D |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,469,190 (GRCm39) |
S20P |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,372,511 (GRCm39) |
|
probably benign |
Het |
| Pi15 |
G |
A |
1: 17,673,001 (GRCm39) |
A67T |
probably benign |
Het |
| Pnp2 |
A |
T |
14: 51,200,995 (GRCm39) |
N160I |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,069 (GRCm39) |
|
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,093 (GRCm39) |
|
probably null |
Het |
| Rnf115 |
G |
A |
3: 96,695,984 (GRCm39) |
V257M |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,127,071 (GRCm39) |
V346D |
probably benign |
Het |
| Rubcn |
A |
T |
16: 32,661,938 (GRCm39) |
N427K |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Septin4 |
T |
A |
11: 87,459,042 (GRCm39) |
L472* |
probably null |
Het |
| Slc5a5 |
A |
G |
8: 71,342,972 (GRCm39) |
V196A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,316,686 (GRCm39) |
L207H |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,157,344 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
C |
1: 84,720,907 (GRCm39) |
K1409R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,797,481 (GRCm39) |
A528T |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,142,343 (GRCm39) |
I1310T |
probably damaging |
Het |
| Ypel5 |
T |
C |
17: 73,153,400 (GRCm39) |
F35L |
probably damaging |
Het |
| Zfp13 |
G |
T |
17: 23,795,888 (GRCm39) |
R228S |
probably benign |
Het |
|
| Other mutations in Sel1l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Sel1l2
|
APN |
2 |
140,085,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01782:Sel1l2
|
APN |
2 |
140,085,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02238:Sel1l2
|
APN |
2 |
140,089,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Sel1l2
|
APN |
2 |
140,117,380 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02539:Sel1l2
|
APN |
2 |
140,072,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02999:Sel1l2
|
APN |
2 |
140,072,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02988:Sel1l2
|
UTSW |
2 |
140,090,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0386:Sel1l2
|
UTSW |
2 |
140,117,361 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0426:Sel1l2
|
UTSW |
2 |
140,082,832 (GRCm39) |
nonsense |
probably null |
|
|
R0549:Sel1l2
|
UTSW |
2 |
140,107,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1404:Sel1l2
|
UTSW |
2 |
140,071,979 (GRCm39) |
splice site |
probably benign |
|
|
R1502:Sel1l2
|
UTSW |
2 |
140,231,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1746:Sel1l2
|
UTSW |
2 |
140,127,157 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2187:Sel1l2
|
UTSW |
2 |
140,072,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2233:Sel1l2
|
UTSW |
2 |
140,086,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2235:Sel1l2
|
UTSW |
2 |
140,086,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Sel1l2
|
UTSW |
2 |
140,082,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Sel1l2
|
UTSW |
2 |
140,071,943 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4724:Sel1l2
|
UTSW |
2 |
140,082,847 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4840:Sel1l2
|
UTSW |
2 |
140,105,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4948:Sel1l2
|
UTSW |
2 |
140,086,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Sel1l2
|
UTSW |
2 |
140,086,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Sel1l2
|
UTSW |
2 |
140,082,889 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6389:Sel1l2
|
UTSW |
2 |
140,087,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Sel1l2
|
UTSW |
2 |
140,182,043 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7056:Sel1l2
|
UTSW |
2 |
140,087,334 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7074:Sel1l2
|
UTSW |
2 |
140,105,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7213:Sel1l2
|
UTSW |
2 |
140,086,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Sel1l2
|
UTSW |
2 |
140,107,644 (GRCm39) |
missense |
probably benign |
|
|
R8030:Sel1l2
|
UTSW |
2 |
140,082,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8100:Sel1l2
|
UTSW |
2 |
140,117,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Sel1l2
|
UTSW |
2 |
140,104,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8201:Sel1l2
|
UTSW |
2 |
140,108,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Sel1l2
|
UTSW |
2 |
140,072,753 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8968:Sel1l2
|
UTSW |
2 |
140,127,209 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9038:Sel1l2
|
UTSW |
2 |
140,117,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9226:Sel1l2
|
UTSW |
2 |
140,097,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Sel1l2
|
UTSW |
2 |
140,090,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation