Mutagenetix > Incidental Mutation

Incidental Mutation 'R6799:Sel1l'

533226

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

044912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91772817-91815931 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 91781742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136087 (fasta)

Gene Model

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

AlphaFold

Q9Z2G6

Predicted Effect

probably null
Transcript: ENSMUST00000021347

SMART Domains

Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964

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

probably null
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

probably null
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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	T	5: 144,981,624 (GRCm39)	Y153F	probably damaging	Het
Abcb1b	T	A	5: 8,862,656 (GRCm39)	Y113N	probably damaging	Het
Albfm1	A	G	5: 90,727,474 (GRCm39)	H364R	probably damaging	Het
Anapc1	C	G	2: 128,501,657 (GRCm39)	R795T	probably null	Het
Arhgap18	T	A	10: 26,725,917 (GRCm39)	N47K	possibly damaging	Het
Arhgap26	A	G	18: 39,232,660 (GRCm39)	N96D	probably damaging	Het
Asxl3	G	T	18: 22,598,457 (GRCm39)	E191*	probably null	Het
Cc2d2b	A	G	19: 40,779,652 (GRCm39)	E697G	possibly damaging	Het
Chaf1a	A	T	17: 56,354,059 (GRCm39)	I110F	unknown	Het
Clca4b	A	T	3: 144,621,388 (GRCm39)		probably null	Het
Dagla	C	A	19: 10,234,214 (GRCm39)	V366L	probably damaging	Het
Dapk1	A	G	13: 60,900,049 (GRCm39)	N878S	probably benign	Het
Dapk3	A	G	10: 81,026,096 (GRCm39)	Y129C	probably damaging	Het
Dhx38	A	G	8: 110,279,834 (GRCm39)	L952P	probably damaging	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Dtymk	A	G	1: 93,726,214 (GRCm39)	L15P	probably benign	Het
E330034G19Rik	A	G	14: 24,346,178 (GRCm39)	M30V	probably benign	Het
Egfr	G	A	11: 16,846,952 (GRCm39)	C783Y	probably damaging	Het
Epha8	C	T	4: 136,672,980 (GRCm39)	R268Q	probably benign	Het
Fbxw24	T	A	9: 109,453,998 (GRCm39)	R49S	probably damaging	Het
Fcsk	T	C	8: 111,620,050 (GRCm39)	M276V	probably benign	Het
Gm8797	A	T	3: 5,816,027 (GRCm39)	T22S	probably benign	Het
Hao1	T	C	2: 134,372,685 (GRCm39)	S108G	probably damaging	Het
Hdac4	C	A	1: 91,929,935 (GRCm39)	A184S	probably damaging	Het
Hikeshi	T	A	7: 89,579,553 (GRCm39)		probably benign	Het
Hivep2	C	T	10: 14,004,757 (GRCm39)	R452C	probably benign	Het
Hsdl1	T	C	8: 120,293,169 (GRCm39)	S68G	probably benign	Het
Kctd20	T	C	17: 29,182,351 (GRCm39)		probably null	Het
Klf11	T	C	12: 24,705,638 (GRCm39)	V364A	possibly damaging	Het
Kpna6	A	G	4: 129,551,247 (GRCm39)	L86P	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lpin1	T	A	12: 16,611,045 (GRCm39)	N516Y	probably damaging	Het
Lrp2	T	C	2: 69,314,248 (GRCm39)	Y2161C	probably damaging	Het
Lrrtm3	A	T	10: 63,923,630 (GRCm39)	C512*	probably null	Het
Mfsd1	T	C	3: 67,507,314 (GRCm39)	I405T	probably damaging	Het
Msc	T	G	1: 14,825,491 (GRCm39)	D161A	probably damaging	Het
Mttp	T	C	3: 137,800,841 (GRCm39)	I755V	probably benign	Het
Ncam1	T	C	9: 49,419,911 (GRCm39)	T803A	probably damaging	Het
Nlrp14	A	G	7: 106,795,346 (GRCm39)	I210V	probably benign	Het
Npat	A	T	9: 53,462,930 (GRCm39)	H108L	probably benign	Het
Nt5dc1	A	G	10: 34,189,703 (GRCm39)	I329T	possibly damaging	Het
Or10v5	T	A	19: 11,806,178 (GRCm39)	I71F	possibly damaging	Het
Or51q1c	T	A	7: 103,648,006 (GRCm39)		probably null	Het
Or8b35	T	C	9: 37,904,478 (GRCm39)	L230P	possibly damaging	Het
Parm1	C	T	5: 91,742,070 (GRCm39)	T146I	possibly damaging	Het
Parp2	T	C	14: 51,058,553 (GRCm39)	Y528H	probably damaging	Het
Pias1	G	T	9: 62,789,334 (GRCm39)	S624R	probably benign	Het
Ppif	A	G	14: 25,696,488 (GRCm39)	H95R	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Psg20	A	G	7: 18,418,345 (GRCm39)	Y141H	probably benign	Het
Pygm	A	T	19: 6,448,157 (GRCm39)	Y733F	probably damaging	Het
Rcc1l	A	T	5: 134,205,552 (GRCm39)	M1K	probably null	Het
Rfpl4b	T	C	10: 38,697,341 (GRCm39)	K87E	possibly damaging	Het
Rnf113a1	A	C	X: 36,455,840 (GRCm39)	T266P	probably benign	Het
Scn5a	A	C	9: 119,324,688 (GRCm39)	I1380S	possibly damaging	Het
Slc18a1	T	A	8: 69,493,633 (GRCm39)	I400L	probably benign	Het
Slc30a3	A	G	5: 31,246,958 (GRCm39)	S73P	probably damaging	Het
Slc9a5	A	T	8: 106,090,600 (GRCm39)	N685I	possibly damaging	Het
Tnc	C	T	4: 63,883,841 (GRCm39)	R1868H	probably benign	Het
Trdmt1	A	G	2: 13,520,824 (GRCm39)		probably null	Het
Ttyh1	G	T	7: 4,136,221 (GRCm39)		probably null	Het
Tyms	A	T	5: 30,266,069 (GRCm39)	D283E	probably benign	Het
Vmn2r110	T	A	17: 20,803,798 (GRCm39)	Y259F	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r88	C	A	14: 51,651,426 (GRCm39)	Q255K	probably benign	Het
Vmn2r95	C	T	17: 18,659,555 (GRCm39)	P100S	probably damaging	Het
Zfp128	A	T	7: 12,624,826 (GRCm39)	H398L	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
R5830:Sel1l	UTSW	12	91,799,945 (GRCm39)	missense	probably damaging	1.00
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'- TCGCTTGTAAGATAGGATGGAGC -3'
(R):5'- AGCCAAGCTGCAAAGGTTC -3'

Sequencing Primer
(F):5'- GCAAATACTAAATTAAGGCAGTCTGG -3'
(R):5'- AGCCAAGCTGCAAAGGTTCTTTTC -3'

Posted On

2018-09-12