Incidental Mutation 'IGL02999:Sel1l2'
| ID |
407254 |
| 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 # |
IGL02999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
140071775-140231626 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140072724 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 637
(E637G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000122367]
|
| AlphaFold |
Q3V172 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122367
AA Change: E637G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113800
Gene: ENSMUSG00000074764
AA Change: E637G
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
| Camk1d |
C |
A |
2: 5,359,516 (GRCm39) |
V177L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
| Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
| Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
| Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
| Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
| Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
| Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
| Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
| Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
| Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
| Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
| Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
| Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
probably damaging |
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 |
|
IGL03388:Sel1l2
|
APN |
2 |
140,105,284 (GRCm39) |
splice site |
probably benign |
|
|
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