Incidental Mutation 'IGL02934:Sel1l'
| ID |
364229 |
| 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 # |
IGL02934
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
91772817-91815931 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 91776710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 711
(Q711*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021347]
[ENSMUST00000167466]
[ENSMUST00000178462]
|
| AlphaFold |
Q9Z2G6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021347
AA Change: Q761*
|
| SMART Domains |
Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964
AA Change: Q761*
| 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 null
Transcript: ENSMUST00000167466
AA Change: Q711*
|
| SMART Domains |
Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964
AA Change: Q711*
| 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 |
probably null
Transcript: ENSMUST00000178462
AA Change: Q711*
|
| SMART Domains |
Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964
AA Change: Q711*
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,956,008 (GRCm39) |
R716* |
probably null |
Het |
| Abca8a |
A |
T |
11: 109,931,414 (GRCm39) |
N1246K |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,876,134 (GRCm39) |
Y396H |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,410,318 (GRCm39) |
S209R |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,484,308 (GRCm39) |
C990* |
probably null |
Het |
| Cachd1 |
C |
T |
4: 100,825,295 (GRCm39) |
S583L |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,374,497 (GRCm39) |
T48A |
probably benign |
Het |
| Ccdc138 |
G |
T |
10: 58,409,402 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,970,112 (GRCm39) |
E2231G |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,979,129 (GRCm39) |
I206V |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,836,633 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
T |
C |
2: 121,809,490 (GRCm39) |
V147A |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,845 (GRCm39) |
V300A |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 111,749,954 (GRCm39) |
M72K |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,900,944 (GRCm39) |
F340L |
probably benign |
Het |
| Fut1 |
A |
G |
7: 45,268,127 (GRCm39) |
H27R |
possibly damaging |
Het |
| Igkv4-80 |
A |
G |
6: 68,993,840 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,931,380 (GRCm39) |
P62L |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,702,882 (GRCm39) |
S1021P |
probably damaging |
Het |
| Krt13 |
A |
C |
11: 100,009,910 (GRCm39) |
L320R |
probably damaging |
Het |
| Ldhal6b |
T |
C |
17: 5,467,819 (GRCm39) |
T372A |
probably benign |
Het |
| Manba |
T |
C |
3: 135,250,510 (GRCm39) |
V379A |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,639 (GRCm39) |
V361I |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,693,531 (GRCm39) |
S399G |
probably benign |
Het |
| Mff |
G |
A |
1: 82,724,815 (GRCm39) |
R229H |
probably damaging |
Het |
| Naga |
T |
C |
15: 82,214,401 (GRCm39) |
N370S |
possibly damaging |
Het |
| Ncor2 |
A |
T |
5: 125,102,621 (GRCm39) |
M2045K |
probably benign |
Het |
| Nipal1 |
T |
C |
5: 72,805,250 (GRCm39) |
L7P |
probably damaging |
Het |
| Or10p22 |
T |
A |
10: 128,825,958 (GRCm39) |
M59K |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,516,491 (GRCm39) |
M187K |
probably benign |
Het |
| Perp |
A |
T |
10: 18,731,520 (GRCm39) |
T160S |
probably damaging |
Het |
| Rapgef6 |
G |
A |
11: 54,516,690 (GRCm39) |
D169N |
probably damaging |
Het |
| Septin5 |
T |
C |
16: 18,448,581 (GRCm39) |
Y7C |
probably damaging |
Het |
| Spdya |
A |
T |
17: 71,863,395 (GRCm39) |
N48I |
probably benign |
Het |
| Stard6 |
T |
A |
18: 70,629,175 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,025,200 (GRCm39) |
V396A |
probably benign |
Het |
| Tcaf3 |
T |
G |
6: 42,570,832 (GRCm39) |
M307L |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,938,778 (GRCm39) |
N757D |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,947,446 (GRCm39) |
D305V |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,516,862 (GRCm39) |
M213L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,028,888 (GRCm39) |
E159G |
probably benign |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,031,215 (GRCm39) |
S1064R |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,268,266 (GRCm39) |
E983K |
possibly damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,914 (GRCm39) |
I288N |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,149,947 (GRCm39) |
V445A |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,334,342 (GRCm39) |
T813M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,346,020 (GRCm39) |
H2754Y |
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 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation