Incidental Mutation 'R5261:Sel1l'
| ID |
401458 |
| 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 |
042830-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5261 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
91772817-91815931 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91791658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 351
(M351K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021347
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021347]
[ENSMUST00000167466]
[ENSMUST00000178462]
|
| AlphaFold |
Q9Z2G6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021347
AA Change: M351K
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964
AA Change: M351K
| 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 |
possibly damaging
Transcript: ENSMUST00000167466
AA Change: M301K
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964
AA Change: M301K
| 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 |
probably benign
Transcript: ENSMUST00000178462
AA Change: M301K
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964
AA Change: M301K
| 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 |
0.3943 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
96% (64/67) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
C |
G |
2: 152,282,777 (GRCm39) |
P211A |
probably damaging |
Het |
| Ambra1 |
G |
A |
2: 91,715,951 (GRCm39) |
V761M |
probably damaging |
Het |
| Amfr |
T |
A |
8: 94,702,798 (GRCm39) |
|
probably null |
Het |
| Asphd1 |
C |
A |
7: 126,545,287 (GRCm39) |
A357S |
probably benign |
Het |
| Brd3 |
C |
A |
2: 27,353,931 (GRCm39) |
Q60H |
probably damaging |
Het |
| Cd96 |
T |
A |
16: 45,890,016 (GRCm39) |
M336L |
probably benign |
Het |
| Cep152 |
T |
A |
2: 125,406,125 (GRCm39) |
H1469L |
probably benign |
Het |
| Coro1a |
G |
T |
7: 126,299,816 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,171,555 (GRCm39) |
L871Q |
probably benign |
Het |
| Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
| Enpep |
T |
G |
3: 129,099,075 (GRCm39) |
D467A |
probably damaging |
Het |
| Extl2 |
G |
A |
3: 115,821,013 (GRCm39) |
A273T |
probably benign |
Het |
| Foxi3 |
T |
A |
6: 70,937,500 (GRCm39) |
F218Y |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,194,166 (GRCm39) |
M521V |
probably benign |
Het |
| Gpr142 |
T |
A |
11: 114,695,168 (GRCm39) |
N44K |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,061 (GRCm39) |
I440V |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,642,028 (GRCm39) |
K698I |
probably damaging |
Het |
| Hspa1b |
T |
C |
17: 35,177,983 (GRCm39) |
M1V |
probably null |
Het |
| Ints9 |
T |
A |
14: 65,245,521 (GRCm39) |
Y260N |
probably benign |
Het |
| Khdc3 |
T |
G |
9: 73,010,768 (GRCm39) |
V182G |
possibly damaging |
Het |
| Ky |
A |
G |
9: 102,414,798 (GRCm39) |
|
probably null |
Het |
| Map2k1 |
T |
A |
9: 64,098,843 (GRCm39) |
I263F |
probably damaging |
Het |
| Or13a18 |
A |
C |
7: 140,190,576 (GRCm39) |
I166L |
probably benign |
Het |
| Or2t47 |
T |
C |
11: 58,442,877 (GRCm39) |
S63G |
probably benign |
Het |
| Or5ak25 |
A |
G |
2: 85,269,241 (GRCm39) |
V87A |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,613,453 (GRCm39) |
H2004L |
probably benign |
Het |
| Palmd |
T |
C |
3: 116,717,009 (GRCm39) |
H496R |
probably benign |
Het |
| Papolb |
C |
G |
5: 142,515,409 (GRCm39) |
R78P |
possibly damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,336,247 (GRCm39) |
G854R |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,101,976 (GRCm39) |
I1054V |
probably benign |
Het |
| Pik3ap1 |
A |
T |
19: 41,364,545 (GRCm39) |
L58Q |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 51,989,937 (GRCm39) |
K21R |
probably benign |
Het |
| Prmt5 |
A |
C |
14: 54,745,373 (GRCm39) |
I598S |
probably damaging |
Het |
| Pycr1 |
T |
A |
11: 120,532,050 (GRCm39) |
I239F |
probably damaging |
Het |
| R3hdm2 |
C |
T |
10: 127,334,285 (GRCm39) |
R896C |
probably damaging |
Het |
| Rev3l |
C |
T |
10: 39,722,725 (GRCm39) |
P699S |
probably damaging |
Het |
| Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
| Sesn2 |
A |
G |
4: 132,226,617 (GRCm39) |
L159P |
probably damaging |
Het |
| Slc35f4 |
T |
A |
14: 49,540,946 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
C |
A |
17: 85,359,403 (GRCm39) |
N409K |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,492,502 (GRCm39) |
F246S |
probably damaging |
Het |
| Socs2 |
T |
G |
10: 95,228,681 (GRCm39) |
I190L |
unknown |
Het |
| Srsf1 |
T |
A |
11: 87,938,684 (GRCm39) |
I7N |
possibly damaging |
Het |
| Stox1 |
T |
A |
10: 62,503,620 (GRCm39) |
H145L |
probably damaging |
Het |
| Trap1 |
A |
T |
16: 3,874,286 (GRCm39) |
I243N |
probably damaging |
Het |
| Trav7-3 |
T |
C |
14: 53,681,207 (GRCm39) |
I83T |
probably benign |
Het |
| Trmt9b |
T |
C |
8: 36,979,078 (GRCm39) |
I227T |
probably benign |
Het |
| Tuft1 |
A |
T |
3: 94,546,712 (GRCm39) |
I42K |
possibly damaging |
Het |
| Umps |
A |
G |
16: 33,787,344 (GRCm39) |
V3A |
probably benign |
Het |
| Vim |
A |
C |
2: 13,579,643 (GRCm39) |
E134A |
probably null |
Het |
| Vmn1r28 |
C |
A |
6: 58,242,524 (GRCm39) |
H122Q |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Vsig10l |
T |
A |
7: 43,120,274 (GRCm39) |
V760D |
probably damaging |
Het |
| Xrn1 |
A |
G |
9: 95,927,596 (GRCm39) |
D1460G |
probably benign |
Het |
| Zfp282 |
A |
G |
6: 47,874,824 (GRCm39) |
D343G |
probably damaging |
Het |
| Zfp35 |
A |
G |
18: 24,136,778 (GRCm39) |
H374R |
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 |
|
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 |
|
|
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'- CTGGTGGTTCTAAAGCAGAGC -3'
(R):5'- TATTATGCTGCCACCTGCTG -3'
Sequencing Primer
(F):5'- GCAGAGCTAATAATTGCCCAG -3'
(R):5'- TGCCACCTGCTGACTACTACAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation