Incidental Mutation 'R1404:Sel1l2'
| ID |
188645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sel1l2
|
| Ensembl Gene |
ENSMUSG00000074764 |
| Gene Name |
sel-1 suppressor of lin-12-like 2 (C. elegans) |
| Synonyms |
LOC228684 |
| MMRRC Submission |
039466-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.574)
|
| Stock # |
R1404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
140071775-140231626 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 140071979 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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
100% (28/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
| Actl6a |
T |
C |
3: 32,776,759 (GRCm39) |
|
probably benign |
Het |
| Aoc1l1 |
A |
T |
6: 48,952,767 (GRCm39) |
T231S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,385,371 (GRCm39) |
|
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,031,973 (GRCm39) |
T69A |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,808,627 (GRCm39) |
K360R |
probably null |
Het |
| Cdh8 |
A |
T |
8: 100,006,250 (GRCm39) |
N112K |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,228,809 (GRCm39) |
F474I |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,915,876 (GRCm39) |
D253N |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,480 (GRCm39) |
D103G |
probably damaging |
Het |
| Fam227b |
A |
G |
2: 125,845,759 (GRCm39) |
L410P |
probably damaging |
Het |
| Ihh |
A |
T |
1: 74,990,372 (GRCm39) |
M1K |
probably null |
Het |
| Itga6 |
A |
G |
2: 71,669,060 (GRCm39) |
T617A |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,363,609 (GRCm39) |
C744S |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,311 (GRCm39) |
I208V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,937,387 (GRCm39) |
K659R |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,734,310 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,270,309 (GRCm39) |
E6612V |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,643,833 (GRCm39) |
K330E |
probably benign |
Het |
| Neb |
C |
T |
2: 52,073,287 (GRCm39) |
D1975N |
possibly damaging |
Het |
| Nell1 |
T |
A |
7: 50,503,621 (GRCm39) |
N675K |
possibly damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
| Or4f47 |
G |
A |
2: 111,972,968 (GRCm39) |
R226H |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,625,003 (GRCm39) |
E737G |
possibly damaging |
Het |
| Sardh |
C |
A |
2: 27,129,473 (GRCm39) |
W275L |
probably damaging |
Het |
| Sipa1l2 |
G |
A |
8: 126,176,712 (GRCm39) |
H1185Y |
probably damaging |
Het |
| Skp2 |
G |
A |
15: 9,117,012 (GRCm39) |
Q298* |
probably null |
Het |
| Spag16 |
G |
A |
1: 69,934,439 (GRCm39) |
|
probably benign |
Het |
| Spink14 |
A |
G |
18: 44,161,896 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,598,960 (GRCm39) |
I43L |
probably benign |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,438,292 (GRCm39) |
M209V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,643,312 (GRCm39) |
S13202R |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,211 (GRCm39) |
V338D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,263,471 (GRCm39) |
L767P |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,122,792 (GRCm39) |
T518I |
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 |
|
IGL02999:Sel1l2
|
APN |
2 |
140,072,724 (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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-05-09 |
Incidental Mutation