Incidental Mutation 'IGL01803:Sel1l'
| ID |
155562 |
| 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 # |
IGL01803
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
91772817-91815931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91797504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 241
(M241K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021347]
[ENSMUST00000167466]
[ENSMUST00000178462]
|
| AlphaFold |
Q9Z2G6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021347
AA Change: M241K
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964
AA Change: M241K
| 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: ENSMUST00000166691
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167466
AA Change: M191K
PolyPhen 2
Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964
AA Change: M191K
| 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: ENSMUST00000171959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172246
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178462
AA Change: M191K
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964
AA Change: M191K
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,085,541 (GRCm39) |
L532Q |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,974,732 (GRCm39) |
V2194D |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,386,968 (GRCm39) |
Q1771* |
probably null |
Het |
| Cfap100 |
C |
A |
6: 90,392,717 (GRCm39) |
R131L |
probably benign |
Het |
| Coch |
A |
T |
12: 51,650,082 (GRCm39) |
Q357L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,282,210 (GRCm39) |
T824A |
unknown |
Het |
| Dnah9 |
T |
C |
11: 66,009,655 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,783,907 (GRCm39) |
V201A |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,530,415 (GRCm39) |
H249L |
probably benign |
Het |
| Elmod1 |
G |
A |
9: 53,838,764 (GRCm39) |
P132L |
probably benign |
Het |
| Eps8l2 |
T |
C |
7: 140,938,143 (GRCm39) |
V459A |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,192,207 (GRCm39) |
D1434G |
probably damaging |
Het |
| Fbn1 |
G |
A |
2: 125,143,645 (GRCm39) |
T2828I |
probably benign |
Het |
| Gbp9 |
C |
T |
5: 105,242,039 (GRCm39) |
D173N |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,232,884 (GRCm39) |
D256G |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,236,921 (GRCm39) |
A580T |
probably damaging |
Het |
| Hnrnpf |
T |
C |
6: 117,884,094 (GRCm39) |
|
probably benign |
Het |
| Krt33a |
T |
C |
11: 99,902,843 (GRCm39) |
E327G |
probably benign |
Het |
| M1ap |
T |
A |
6: 82,982,565 (GRCm39) |
I283K |
probably benign |
Het |
| Mars2 |
A |
G |
1: 55,277,155 (GRCm39) |
S253G |
probably damaging |
Het |
| Myh6 |
A |
T |
14: 55,182,000 (GRCm39) |
M1767K |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,245,926 (GRCm39) |
D16E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,629,471 (GRCm39) |
Y978N |
probably benign |
Het |
| Plekha6 |
G |
T |
1: 133,200,152 (GRCm39) |
E66* |
probably null |
Het |
| Polk |
C |
T |
13: 96,641,030 (GRCm39) |
V176M |
probably damaging |
Het |
| Pom121 |
G |
T |
5: 135,410,463 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,332,133 (GRCm39) |
D2447E |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,013,047 (GRCm39) |
M1130V |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,352,127 (GRCm39) |
|
probably benign |
Het |
| Septin4 |
G |
A |
11: 87,459,075 (GRCm39) |
S483N |
probably benign |
Het |
| Ssh2 |
T |
G |
11: 77,316,156 (GRCm39) |
L259R |
probably damaging |
Het |
| Tnr |
G |
T |
1: 159,695,813 (GRCm39) |
G579W |
probably damaging |
Het |
| Vmn1r85 |
G |
T |
7: 12,818,496 (GRCm39) |
A216D |
probably damaging |
Het |
| Vmn2r83 |
C |
A |
10: 79,304,894 (GRCm39) |
H35N |
probably benign |
Het |
| Zar1l |
T |
A |
5: 150,441,569 (GRCm39) |
Y19F |
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 |
|
|
IGL01939:Sel1l
|
APN |
12 |
91,783,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02275:Sel1l
|
APN |
12 |
91,781,789 (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 |
2014-02-04 |
Incidental Mutation