Incidental Mutation 'R3419:Sel1l'
ID |
266980 |
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 |
040637-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3419 (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 G
at 91776776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 689
(W689R)
|
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: W739R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021347 Gene: ENSMUSG00000020964 AA Change: W739R
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: W689R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129384 Gene: ENSMUSG00000020964 AA Change: W689R
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 damaging
Transcript: ENSMUST00000178462
AA Change: W689R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136087 Gene: ENSMUSG00000020964 AA Change: W689R
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 |
|
Meta Mutation Damage Score |
0.8142 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
A |
G |
6: 133,271,082 (GRCm39) |
Q42R |
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,512,068 (GRCm39) |
L518P |
probably damaging |
Het |
Armc9 |
T |
C |
1: 86,122,060 (GRCm39) |
L395P |
probably damaging |
Het |
Baz1a |
T |
C |
12: 54,993,684 (GRCm39) |
K181E |
probably benign |
Het |
Bend3 |
T |
C |
10: 43,385,978 (GRCm39) |
S124P |
probably damaging |
Het |
Cdh5 |
C |
T |
8: 104,856,002 (GRCm39) |
R312C |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,731,813 (GRCm39) |
D873G |
probably benign |
Het |
Dmbx1 |
G |
C |
4: 115,777,873 (GRCm39) |
R64G |
probably benign |
Het |
Dpy19l2 |
T |
C |
9: 24,492,501 (GRCm39) |
E699G |
probably damaging |
Het |
Dync2i1 |
C |
T |
12: 116,188,597 (GRCm39) |
V666I |
probably benign |
Het |
Eef2k |
T |
A |
7: 120,485,093 (GRCm39) |
M320K |
probably damaging |
Het |
Exoc5 |
A |
T |
14: 49,260,735 (GRCm39) |
N377K |
probably damaging |
Het |
Fam20c |
A |
T |
5: 138,743,623 (GRCm39) |
N220Y |
probably damaging |
Het |
Fchsd2 |
T |
A |
7: 100,927,867 (GRCm39) |
|
probably null |
Het |
Flrt2 |
A |
G |
12: 95,747,378 (GRCm39) |
Y572C |
probably damaging |
Het |
Gm17093 |
A |
G |
14: 44,759,047 (GRCm39) |
I190V |
unknown |
Het |
Gsto1 |
T |
C |
19: 47,846,344 (GRCm39) |
F64L |
probably benign |
Het |
Gucy1a1 |
A |
G |
3: 82,013,440 (GRCm39) |
S401P |
probably damaging |
Het |
Hoxd10 |
A |
G |
2: 74,522,921 (GRCm39) |
K200E |
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,641 (GRCm39) |
T194A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lacc1 |
T |
G |
14: 77,272,321 (GRCm39) |
E158D |
probably benign |
Het |
Lyn |
A |
T |
4: 3,746,833 (GRCm39) |
I204F |
probably damaging |
Het |
Mapk6 |
T |
C |
9: 75,305,039 (GRCm39) |
E126G |
probably damaging |
Het |
Mbd6 |
C |
G |
10: 127,122,372 (GRCm39) |
R152P |
probably null |
Het |
Or2h1b |
A |
T |
17: 37,462,242 (GRCm39) |
V53E |
probably damaging |
Het |
Or52e15 |
A |
G |
7: 104,645,727 (GRCm39) |
I128T |
probably damaging |
Het |
Or8g17 |
C |
T |
9: 38,930,372 (GRCm39) |
C155Y |
probably benign |
Het |
P2ry1 |
T |
C |
3: 60,911,133 (GRCm39) |
F91L |
probably damaging |
Het |
Paqr3 |
A |
G |
5: 97,247,559 (GRCm39) |
L183P |
probably damaging |
Het |
Pcdh15 |
C |
A |
10: 74,420,054 (GRCm39) |
D1166E |
probably benign |
Het |
Pik3r1 |
T |
C |
13: 101,828,723 (GRCm39) |
D25G |
probably benign |
Het |
Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
Polr3a |
A |
G |
14: 24,517,103 (GRCm39) |
L716P |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,719,413 (GRCm39) |
D500E |
probably benign |
Het |
Ptcd3 |
A |
T |
6: 71,860,470 (GRCm39) |
I579K |
possibly damaging |
Het |
Rnf168 |
A |
G |
16: 32,118,010 (GRCm39) |
N524D |
probably benign |
Het |
Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
Serpinb13 |
T |
C |
1: 106,926,657 (GRCm39) |
S218P |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,547,589 (GRCm39) |
Y367C |
probably damaging |
Het |
Snrnp48 |
G |
A |
13: 38,405,335 (GRCm39) |
D248N |
possibly damaging |
Het |
St6galnac4 |
A |
G |
2: 32,485,743 (GRCm39) |
T217A |
probably damaging |
Het |
Tdrd1 |
T |
A |
19: 56,819,663 (GRCm39) |
N54K |
possibly damaging |
Het |
Tmem30c |
A |
G |
16: 57,098,031 (GRCm39) |
V130A |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,944,605 (GRCm39) |
I1046M |
probably benign |
Het |
Tulp2 |
T |
A |
7: 45,168,176 (GRCm39) |
M196K |
possibly damaging |
Het |
Unc5b |
G |
A |
10: 60,614,593 (GRCm39) |
R235W |
probably damaging |
Het |
Vmn1r175 |
A |
T |
7: 23,508,075 (GRCm39) |
M184K |
probably damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,024,320 (GRCm39) |
F754I |
probably benign |
Het |
Vmn2r9 |
A |
C |
5: 108,994,299 (GRCm39) |
M450R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGCGTTCTCAGCAAGCAGC -3'
(R):5'- CTCTGGGTGTCAGTAGAAGAAG -3'
Sequencing Primer
(F):5'- CCGACCAAGGTGAGTGTGTG -3'
(R):5'- GGGTTTAAAAATCATCACAGTGTCC -3'
|
Posted On |
2015-02-18 |