Incidental Mutation 'R5830:Sel1l'
ID |
449280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sel1l
|
Ensembl Gene |
ENSMUSG00000020964 |
Gene Name |
sel-1 suppressor of lin-12-like (C. elegans) |
Synonyms |
Sel1h |
MMRRC Submission |
043219-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5830 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
91772817-91815931 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 91799945 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 127
(F127Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021347
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021347]
[ENSMUST00000167466]
[ENSMUST00000178462]
|
AlphaFold |
Q9Z2G6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021347
AA Change: F127Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000021347 Gene: ENSMUSG00000020964 AA Change: F127Y
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
|
SMART Domains |
Protein: ENSMUSP00000129384 Gene: ENSMUSG00000020964
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
|
SMART Domains |
Protein: ENSMUSP00000136087 Gene: ENSMUSG00000020964
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 |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.6%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apobec3 |
A |
T |
15: 79,783,268 (GRCm39) |
N115I |
possibly damaging |
Het |
Arl14ep |
T |
C |
2: 106,799,539 (GRCm39) |
S101G |
possibly damaging |
Het |
Atp6v0a2 |
C |
T |
5: 124,779,485 (GRCm39) |
T200I |
probably damaging |
Het |
Ccdc40 |
C |
A |
11: 119,133,572 (GRCm39) |
H571N |
probably benign |
Het |
Cdc42bpb |
G |
A |
12: 111,312,016 (GRCm39) |
R99* |
probably null |
Het |
Cdyl2 |
A |
G |
8: 117,321,823 (GRCm39) |
Y235H |
probably benign |
Het |
Chmp2a |
T |
C |
7: 12,766,039 (GRCm39) |
D161G |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,831,862 (GRCm39) |
W2091R |
unknown |
Het |
Epha8 |
G |
A |
4: 136,663,701 (GRCm39) |
Q452* |
probably null |
Het |
Fbn2 |
A |
G |
18: 58,247,541 (GRCm39) |
F451S |
probably benign |
Het |
Fndc1 |
C |
A |
17: 8,007,918 (GRCm39) |
R72L |
possibly damaging |
Het |
Gfpt2 |
A |
G |
11: 49,699,888 (GRCm39) |
E81G |
probably benign |
Het |
Gpr155 |
A |
G |
2: 73,200,433 (GRCm39) |
V358A |
possibly damaging |
Het |
Hnrnpk |
A |
T |
13: 58,545,548 (GRCm39) |
Y92* |
probably null |
Het |
Il34 |
A |
G |
8: 111,475,323 (GRCm39) |
V71A |
probably damaging |
Het |
Inpp5e |
A |
G |
2: 26,290,427 (GRCm39) |
F416L |
probably damaging |
Het |
Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
Kdsr |
A |
G |
1: 106,675,262 (GRCm39) |
S125P |
possibly damaging |
Het |
Ldb1 |
T |
A |
19: 46,022,557 (GRCm39) |
M307L |
probably benign |
Het |
Lrr1 |
T |
A |
12: 69,225,445 (GRCm39) |
S374T |
possibly damaging |
Het |
Mtmr2 |
A |
G |
9: 13,713,274 (GRCm39) |
I412V |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,235,589 (GRCm39) |
I298V |
possibly damaging |
Het |
Ndst1 |
A |
G |
18: 60,836,910 (GRCm39) |
F384L |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,199,542 (GRCm39) |
E51G |
probably damaging |
Het |
Obox6 |
G |
A |
7: 15,568,382 (GRCm39) |
H165Y |
possibly damaging |
Het |
Or5k17 |
T |
A |
16: 58,746,457 (GRCm39) |
H159L |
possibly damaging |
Het |
Pde8b |
A |
T |
13: 95,178,398 (GRCm39) |
F582Y |
probably benign |
Het |
Pik3r4 |
C |
A |
9: 105,522,023 (GRCm39) |
Y196* |
probably null |
Het |
Pink1 |
A |
T |
4: 138,043,325 (GRCm39) |
M1K |
probably null |
Het |
Scn7a |
A |
T |
2: 66,544,395 (GRCm39) |
Y365* |
probably null |
Het |
Sec16a |
A |
T |
2: 26,330,853 (GRCm39) |
D387E |
probably benign |
Het |
Syt7 |
T |
A |
19: 10,399,151 (GRCm39) |
N82K |
probably damaging |
Het |
Zfp358 |
G |
T |
8: 3,545,846 (GRCm39) |
V143L |
probably benign |
Het |
Zkscan2 |
T |
C |
7: 123,079,323 (GRCm39) |
N878S |
possibly 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 |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAATGCTGCCCTAAAGC -3'
(R):5'- CAGCCAAGCTCATTAAGTGAC -3'
Sequencing Primer
(F):5'- TGCTGCCCTAAAGCACAGG -3'
(R):5'- AGCTCATTAAGTGACCTCAAGTC -3'
|
Posted On |
2016-12-20 |