Incidental Mutation 'IGL01690:Sel1l'
| ID |
104075 |
| 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 # |
IGL01690
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
91772817-91815931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 91810033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 26
(D26E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021347]
[ENSMUST00000167466]
[ENSMUST00000178462]
|
| AlphaFold |
Q9Z2G6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021347
AA Change: D26E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964
AA Change: D26E
| 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: D26E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964
AA Change: D26E
| 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: ENSMUST00000169843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172246
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178462
AA Change: D26E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964
AA Change: D26E
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429P17Rik |
A |
G |
13: 48,114,446 (GRCm39) |
|
noncoding transcript |
Het |
| Agap2 |
T |
C |
10: 126,918,827 (GRCm39) |
|
probably benign |
Het |
| Bicra |
G |
A |
7: 15,721,678 (GRCm39) |
T613I |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,284,277 (GRCm39) |
S150P |
possibly damaging |
Het |
| Cfap107 |
G |
A |
4: 144,165,098 (GRCm39) |
T26M |
probably damaging |
Het |
| F830045P16Rik |
T |
G |
2: 129,314,614 (GRCm39) |
Q221P |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,328,784 (GRCm39) |
M1172L |
probably benign |
Het |
| Fbxo2 |
G |
T |
4: 148,249,581 (GRCm39) |
|
probably null |
Het |
| Frem1 |
C |
T |
4: 82,877,533 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
C |
T |
5: 131,114,734 (GRCm39) |
|
probably null |
Het |
| Gipc2 |
A |
G |
3: 151,833,771 (GRCm39) |
I170T |
probably damaging |
Het |
| Gm2399 |
C |
T |
13: 12,717,417 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac10 |
T |
A |
15: 89,010,194 (GRCm39) |
M283L |
probably benign |
Het |
| Icam5 |
A |
G |
9: 20,946,095 (GRCm39) |
E309G |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,277 (GRCm39) |
V602A |
probably benign |
Het |
| Igkv3-5 |
T |
A |
6: 70,640,865 (GRCm39) |
S115R |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,025,568 (GRCm39) |
R67G |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,232 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,168,655 (GRCm39) |
D751G |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,917,831 (GRCm39) |
D3297G |
probably damaging |
Het |
| Mall |
A |
G |
2: 127,571,699 (GRCm39) |
F30L |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,512 (GRCm39) |
G403D |
probably damaging |
Het |
| Mmp11 |
T |
C |
10: 75,762,730 (GRCm39) |
Y241C |
probably damaging |
Het |
| Niban1 |
C |
A |
1: 151,579,555 (GRCm39) |
R425S |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,557 (GRCm39) |
V171A |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,228,609 (GRCm39) |
A1519T |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,529,490 (GRCm39) |
M96V |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,614,391 (GRCm39) |
D124G |
probably damaging |
Het |
| Plb1 |
A |
T |
5: 32,471,041 (GRCm39) |
I538F |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,883,200 (GRCm39) |
D1788G |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,980,962 (GRCm39) |
S134P |
probably damaging |
Het |
| Sec61a2 |
G |
A |
2: 5,891,363 (GRCm39) |
S56L |
possibly damaging |
Het |
| Slc25a48 |
G |
A |
13: 56,612,758 (GRCm39) |
|
probably benign |
Het |
| Tas2r126 |
T |
C |
6: 42,412,241 (GRCm39) |
F258S |
probably benign |
Het |
| Tnfrsf13b |
G |
A |
11: 61,032,146 (GRCm39) |
V59I |
possibly damaging |
Het |
| Usp6nl |
G |
A |
2: 6,445,879 (GRCm39) |
V619M |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,180,767 (GRCm39) |
I10M |
possibly damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,264,782 (GRCm39) |
D38G |
probably damaging |
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 |
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation