Incidental Mutation 'IGL02275:Sel1l'
| ID |
287315 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sel1l
|
| Ensembl Gene |
ENSMUSG00000020964 |
| Gene Name |
sel-1 suppressor of lin-12-like (C. elegans) |
| Synonyms |
Sel1h |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02275
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
91772817-91815931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91781789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 532
(Y532C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021347]
[ENSMUST00000167466]
[ENSMUST00000178462]
|
| AlphaFold |
Q9Z2G6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021347
AA Change: Y582C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964
AA Change: Y582C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
FN2
|
116 |
164 |
1.24e-24 |
SMART |
|
SEL1
|
179 |
214 |
2.48e-1 |
SMART |
|
SEL1
|
215 |
250 |
7.5e1 |
SMART |
|
SEL1
|
251 |
286 |
1.86e-5 |
SMART |
|
SEL1
|
287 |
322 |
1.16e-1 |
SMART |
|
SEL1
|
369 |
405 |
7.93e-9 |
SMART |
|
SEL1
|
406 |
442 |
8.05e-10 |
SMART |
|
SEL1
|
443 |
478 |
2.48e-10 |
SMART |
|
SEL1
|
479 |
514 |
1.91e-11 |
SMART |
|
SEL1
|
515 |
550 |
9.04e-4 |
SMART |
|
Pfam:Sel1
|
585 |
622 |
3.4e-1 |
PFAM |
|
SEL1
|
623 |
658 |
4.42e-7 |
SMART |
|
SEL1
|
660 |
695 |
2.28e-9 |
SMART |
|
low complexity region
|
766 |
790 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165282
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166691
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167466
AA Change: Y532C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964
AA Change: Y532C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SEL1
|
129 |
164 |
2.48e-1 |
SMART |
|
SEL1
|
165 |
200 |
7.5e1 |
SMART |
|
SEL1
|
201 |
236 |
1.86e-5 |
SMART |
|
SEL1
|
237 |
272 |
1.16e-1 |
SMART |
|
SEL1
|
319 |
355 |
7.93e-9 |
SMART |
|
SEL1
|
356 |
392 |
8.05e-10 |
SMART |
|
SEL1
|
393 |
428 |
2.48e-10 |
SMART |
|
SEL1
|
429 |
464 |
1.91e-11 |
SMART |
|
SEL1
|
465 |
500 |
9.04e-4 |
SMART |
|
Pfam:Sel1
|
534 |
572 |
1.5e-1 |
PFAM |
|
SEL1
|
573 |
608 |
4.42e-7 |
SMART |
|
SEL1
|
610 |
645 |
2.28e-9 |
SMART |
|
low complexity region
|
716 |
740 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167594
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171465
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178462
AA Change: Y532C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964
AA Change: Y532C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
SEL1
|
129 |
164 |
2.48e-1 |
SMART |
|
SEL1
|
165 |
200 |
7.5e1 |
SMART |
|
SEL1
|
201 |
236 |
1.86e-5 |
SMART |
|
SEL1
|
237 |
272 |
1.16e-1 |
SMART |
|
SEL1
|
319 |
355 |
7.93e-9 |
SMART |
|
SEL1
|
356 |
392 |
8.05e-10 |
SMART |
|
SEL1
|
393 |
428 |
2.48e-10 |
SMART |
|
SEL1
|
429 |
464 |
1.91e-11 |
SMART |
|
SEL1
|
465 |
500 |
9.04e-4 |
SMART |
|
Pfam:Sel1
|
535 |
572 |
3.2e-1 |
PFAM |
|
SEL1
|
573 |
608 |
4.42e-7 |
SMART |
|
SEL1
|
610 |
645 |
2.28e-9 |
SMART |
|
low complexity region
|
716 |
740 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit prenatal lethality with impaired exocrine and endocrine pancreatic development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
T |
A |
16: 3,724,146 (GRCm39) |
D130V |
probably damaging |
Het |
| 4930596D02Rik |
T |
C |
14: 35,533,880 (GRCm39) |
T9A |
probably benign |
Het |
| Anapc1 |
C |
A |
2: 128,501,772 (GRCm39) |
A757S |
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,834,192 (GRCm39) |
D328V |
probably benign |
Het |
| Cdh19 |
T |
A |
1: 110,853,616 (GRCm39) |
K275I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,895,217 (GRCm39) |
I1148T |
possibly damaging |
Het |
| Commd1 |
A |
T |
11: 22,850,017 (GRCm39) |
V222D |
probably damaging |
Het |
| Crim1 |
T |
A |
17: 78,677,427 (GRCm39) |
M876K |
possibly damaging |
Het |
| Dennd1b |
C |
A |
1: 139,008,992 (GRCm39) |
H232N |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,582,268 (GRCm39) |
T393A |
probably benign |
Het |
| Dnai7 |
T |
C |
6: 145,123,090 (GRCm39) |
Y592C |
probably damaging |
Het |
| Gabrb2 |
G |
T |
11: 42,482,721 (GRCm39) |
R193L |
probably benign |
Het |
| Gm5828 |
T |
A |
1: 16,839,342 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,879,364 (GRCm39) |
Y619C |
possibly damaging |
Het |
| Kctd19 |
A |
G |
8: 106,123,006 (GRCm39) |
I136T |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or2w6 |
A |
C |
13: 21,843,170 (GRCm39) |
F108V |
probably benign |
Het |
| Sirpb1a |
A |
G |
3: 15,475,469 (GRCm39) |
|
probably null |
Het |
| Ush2a |
C |
T |
1: 187,995,466 (GRCm39) |
T79M |
possibly damaging |
Het |
| Usp24 |
T |
C |
4: 106,244,690 (GRCm39) |
V1215A |
probably damaging |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,205,379 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,348 (GRCm39) |
T382A |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,937,949 (GRCm39) |
Y728C |
probably benign |
Het |
|
| Other mutations in Sel1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Sel1l
|
APN |
12 |
91,781,387 (GRCm39) |
splice site |
probably benign |
|
|
IGL01082:Sel1l
|
APN |
12 |
91,778,682 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01402:Sel1l
|
APN |
12 |
91,808,607 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01610:Sel1l
|
APN |
12 |
91,784,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01690:Sel1l
|
APN |
12 |
91,810,033 (GRCm39) |
missense |
probably benign |
|
|
IGL01803:Sel1l
|
APN |
12 |
91,797,504 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01939:Sel1l
|
APN |
12 |
91,783,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02279:Sel1l
|
APN |
12 |
91,781,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02407:Sel1l
|
APN |
12 |
91,810,042 (GRCm39) |
splice site |
probably benign |
|
|
IGL02934:Sel1l
|
APN |
12 |
91,776,710 (GRCm39) |
nonsense |
probably null |
|
|
R0533:Sel1l
|
UTSW |
12 |
91,786,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0565:Sel1l
|
UTSW |
12 |
91,780,719 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0565:Sel1l
|
UTSW |
12 |
91,778,663 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0973:Sel1l
|
UTSW |
12 |
91,791,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1378:Sel1l
|
UTSW |
12 |
91,799,871 (GRCm39) |
splice site |
probably null |
|
|
R1505:Sel1l
|
UTSW |
12 |
91,780,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Sel1l
|
UTSW |
12 |
91,793,458 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2001:Sel1l
|
UTSW |
12 |
91,793,324 (GRCm39) |
nonsense |
probably null |
|
|
R3418:Sel1l
|
UTSW |
12 |
91,776,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Sel1l
|
UTSW |
12 |
91,776,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Sel1l
|
UTSW |
12 |
91,799,827 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4776:Sel1l
|
UTSW |
12 |
91,780,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Sel1l
|
UTSW |
12 |
91,799,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4860:Sel1l
|
UTSW |
12 |
91,798,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Sel1l
|
UTSW |
12 |
91,798,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Sel1l
|
UTSW |
12 |
91,780,828 (GRCm39) |
intron |
probably benign |
|
|
R5261:Sel1l
|
UTSW |
12 |
91,791,658 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5692:Sel1l
|
UTSW |
12 |
91,778,652 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5744:Sel1l
|
UTSW |
12 |
91,776,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5830:Sel1l
|
UTSW |
12 |
91,799,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6799:Sel1l
|
UTSW |
12 |
91,781,742 (GRCm39) |
splice site |
probably null |
|
|
R7291:Sel1l
|
UTSW |
12 |
91,815,739 (GRCm39) |
missense |
probably benign |
|
|
R8493:Sel1l
|
UTSW |
12 |
91,780,735 (GRCm39) |
nonsense |
probably null |
|
|
R9178:Sel1l
|
UTSW |
12 |
91,797,526 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9179:Sel1l
|
UTSW |
12 |
91,778,726 (GRCm39) |
missense |
probably benign |
0.42 |
|
Z1176:Sel1l
|
UTSW |
12 |
91,792,071 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation