Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01082:Sel1l'

52435

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01082

Quality Score

Status

Chromosome

Chromosomal Location

91806043-91849157 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91811908 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 711 (V711A)

Ref Sequence

ENSEMBL: ENSMUSP00000021347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021347] [ENSMUST00000167466] [ENSMUST00000178462]

Predicted Effect

probably benign
Transcript: ENSMUST00000021347
AA Change: V711A

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964
AA Change: V711A

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 benign
Transcript: ENSMUST00000167466
AA Change: V661A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964
AA Change: V661A

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: ENSMUST00000171465

Predicted Effect

probably benign
Transcript: ENSMUST00000178462
AA Change: V661A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964
AA Change: V661A

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,314,114	S723F	probably damaging	Het
Cacng5	C	T	11: 107,881,705	V106I	probably benign	Het
Ccdc116	A	G	16: 17,141,992	S278P	probably damaging	Het
Cep152	A	T	2: 125,569,545		probably benign	Het
Cftr	T	C	6: 18,226,103	V350A	probably damaging	Het
Dsc2	A	T	18: 20,043,792	N399K	probably damaging	Het
Eif3d	T	C	15: 77,959,743	T468A	probably damaging	Het
Fam110b	C	T	4: 5,799,461	A293V	possibly damaging	Het
Flrt1	T	C	19: 7,095,974	T403A	probably benign	Het
Hist1h3e	A	G	13: 23,562,374		probably benign	Het
Ift140	T	A	17: 25,048,455	V609E	possibly damaging	Het
Klb	G	A	5: 65,375,940	V531I	possibly damaging	Het
Krt73	T	C	15: 101,798,937		probably null	Het
Mcm2	A	G	6: 88,887,877	V539A	probably benign	Het
Myb	A	G	10: 21,152,944	V85A	probably damaging	Het
Ndufs1	T	C	1: 63,164,817	E102G	probably damaging	Het
Nr5a2	C	A	1: 136,845,468	A499S	probably benign	Het
Olfr1201	T	C	2: 88,795,293	F304L	probably benign	Het
Olfr1256	A	T	2: 89,844,063		probably benign	Het
Olfr126	T	A	17: 37,850,623	S10R	probably benign	Het
Opa1	A	T	16: 29,618,115		probably benign	Het
Pcnx	G	A	12: 81,990,598	E1877K	possibly damaging	Het
Slc22a16	A	G	10: 40,573,864	T120A	probably benign	Het
Slc26a1	G	T	5: 108,671,878	T485N	possibly damaging	Het
Sp100	T	C	1: 85,670,020	V201A	possibly damaging	Het
Spz1	T	G	13: 92,575,521	K149T	probably damaging	Het
Stxbp5l	A	G	16: 37,204,578	S553P	possibly damaging	Het
Szt2	A	G	4: 118,397,624	S290P	probably damaging	Het
Tbc1d10c	A	G	19: 4,189,027	Y165H	probably damaging	Het
Tnxb	C	A	17: 34,714,610	Q2335K	probably damaging	Het
Trim33	T	C	3: 103,326,859	I471T	possibly damaging	Het
Vsig10	A	G	5: 117,334,905	I188V	probably benign	Het
Zfp109	A	T	7: 24,234,359	L45Q	probably damaging	Het

Other mutations in Sel1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Sel1l	APN	12	91814613	splice site	probably benign
IGL01402:Sel1l	APN	12	91841833	missense	possibly damaging	0.55
IGL01610:Sel1l	APN	12	91817290	missense	probably damaging	1.00
IGL01690:Sel1l	APN	12	91843259	missense	probably benign
IGL01803:Sel1l	APN	12	91830730	missense	probably benign	0.37
IGL01939:Sel1l	APN	12	91816247	missense	probably damaging	1.00
IGL02275:Sel1l	APN	12	91815015	missense	probably damaging	1.00
IGL02279:Sel1l	APN	12	91814997	missense	probably damaging	1.00
IGL02407:Sel1l	APN	12	91843268	splice site	probably benign
IGL02934:Sel1l	APN	12	91809936	nonsense	probably null
R0533:Sel1l	UTSW	12	91820094	missense	probably damaging	1.00
R0565:Sel1l	UTSW	12	91811889	missense	probably benign	0.16
R0565:Sel1l	UTSW	12	91813945	missense	possibly damaging	0.95
R0973:Sel1l	UTSW	12	91824860	missense	probably damaging	1.00
R1378:Sel1l	UTSW	12	91833097	splice site	probably null
R1505:Sel1l	UTSW	12	91813962	missense	probably damaging	1.00
R1530:Sel1l	UTSW	12	91826684	missense	probably damaging	0.96
R2001:Sel1l	UTSW	12	91826550	nonsense	probably null
R3418:Sel1l	UTSW	12	91810002	missense	probably damaging	1.00
R3419:Sel1l	UTSW	12	91810002	missense	probably damaging	1.00
R4601:Sel1l	UTSW	12	91833053	critical splice donor site	probably null
R4776:Sel1l	UTSW	12	91813893	missense	probably damaging	1.00
R4839:Sel1l	UTSW	12	91833158	missense	probably benign	0.00
R4860:Sel1l	UTSW	12	91831602	missense	probably damaging	1.00
R4860:Sel1l	UTSW	12	91831602	missense	probably damaging	1.00
R4869:Sel1l	UTSW	12	91814054	intron	probably benign
R5261:Sel1l	UTSW	12	91824884	missense	possibly damaging	0.92
R5692:Sel1l	UTSW	12	91811878	missense	probably benign	0.02
R5744:Sel1l	UTSW	12	91809980	missense	possibly damaging	0.95
R5830:Sel1l	UTSW	12	91833171	missense	probably damaging	1.00
R6799:Sel1l	UTSW	12	91814968	splice site	probably null
R7291:Sel1l	UTSW	12	91848965	missense	probably benign
R8493:Sel1l	UTSW	12	91813961	nonsense	probably null
Z1176:Sel1l	UTSW	12	91825297	missense	probably null	1.00

Posted On

2013-06-21