Mutagenetix > Incidental Mutation

Incidental Mutation 'R3418:Sel1l'

266923

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

040636-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3418 (G1)

Quality Score

225

Status

Validated

Chromosome

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: 97.2%
20x: 94.6%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Acaa1a	A	G	9: 119,178,556 (GRCm39)		probably null	Het
Agbl5	T	C	5: 31,062,067 (GRCm39)	S756P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Cdc16	C	T	8: 13,819,489 (GRCm39)	Q362*	probably null	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Cep170b	C	T	12: 112,704,902 (GRCm39)	Q887*	probably null	Het
Chd9	T	C	8: 91,763,219 (GRCm39)	I2348T	probably damaging	Het
Clec9a	A	G	6: 129,398,001 (GRCm39)		probably benign	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
D130040H23Rik	T	C	8: 69,755,579 (GRCm39)	I328T	probably benign	Het
Dido1	G	T	2: 180,302,728 (GRCm39)	D1725E	possibly damaging	Het
Dnajb14	A	G	3: 137,598,631 (GRCm39)	D123G	probably null	Het
Dock2	A	T	11: 34,580,587 (GRCm39)	M661K	probably damaging	Het
Esam	C	T	9: 37,448,426 (GRCm39)		probably null	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fat2	G	T	11: 55,169,824 (GRCm39)	H2978Q	probably benign	Het
Fbn1	T	C	2: 125,162,846 (GRCm39)	T2147A	possibly damaging	Het
Fdft1	T	C	14: 63,394,070 (GRCm39)	T214A	probably damaging	Het
Fhl5	T	C	4: 25,211,252 (GRCm39)	S147G	probably benign	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gcat	A	T	15: 78,926,297 (GRCm39)	T56S	possibly damaging	Het
Gemin5	A	T	11: 58,047,454 (GRCm39)		probably null	Het
Gm4736	A	T	6: 132,092,640 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,820,108 (GRCm39)	N368S	probably benign	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
Htr1f	G	A	16: 64,746,260 (GRCm39)	P344L	probably damaging	Het
Ighv7-3	T	A	12: 114,116,919 (GRCm39)	Y81F	probably damaging	Het
Jakmip3	C	A	7: 138,619,474 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Khdrbs3	T	C	15: 68,921,224 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Myom2	T	G	8: 15,135,294 (GRCm39)	I499S	probably benign	Het
Nos2	T	A	11: 78,850,521 (GRCm39)	F1126L	possibly damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pou6f1	C	A	15: 100,478,805 (GRCm39)	V368L	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rbm45	A	G	2: 76,209,362 (GRCm39)	E392G	probably damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Rnf222	G	T	11: 68,783,982 (GRCm39)	R183L	probably damaging	Het
Robo1	C	T	16: 72,832,805 (GRCm39)	T1526I	probably benign	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
Slc13a2	A	G	11: 78,291,666 (GRCm39)	F329S	probably benign	Het
Smc2	T	C	4: 52,476,850 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,446 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tgfbr2	T	C	9: 115,958,901 (GRCm39)	Y146C	probably damaging	Het
Tnfrsf11a	A	G	1: 105,737,130 (GRCm39)	D79G	possibly damaging	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Ubn1	A	G	16: 4,892,243 (GRCm39)		probably benign	Het
Ubp1	T	C	9: 113,780,754 (GRCm39)		probably null	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAAGCGTTCTCAGCAAG -3'
(R):5'- CCTCTGGGTGTCAGTAGAAGAAG -3'

Sequencing Primer
(F):5'- CCGACCAAGGTGAGTGTGTG -3'
(R):5'- GGGTTTAAAAATCATCACAGTGTCC -3'

Posted On

2015-02-18