Mutagenetix > Incidental Mutation

Incidental Mutation 'R9178:Sel1l'

696847

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

068978-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91772817-91815931 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91797526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 234 (N234D)

Ref Sequence

ENSEMBL: ENSMUSP00000021347 (fasta)

Gene Model

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

AlphaFold

Q9Z2G6

Predicted Effect

probably benign
Transcript: ENSMUST00000021347
AA Change: N234D

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021347
Gene: ENSMUSG00000020964
AA Change: N234D

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 benign
Transcript: ENSMUST00000167466
AA Change: N184D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000129384
Gene: ENSMUSG00000020964
AA Change: N184D

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 benign
Transcript: ENSMUST00000178462
AA Change: N184D

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000136087
Gene: ENSMUSG00000020964
AA Change: N184D

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

0.0763

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,880,992 (GRCm39)	T146S	unknown	Het
Abca8b	A	T	11: 109,840,937 (GRCm39)	F1079I	probably benign	Het
Adcy10	A	T	1: 165,403,218 (GRCm39)	Q1572L	possibly damaging	Het
Akna	T	C	4: 63,312,846 (GRCm39)	T426A	possibly damaging	Het
Alkbh8	A	G	9: 3,338,448 (GRCm39)		probably benign	Het
Apc2	G	A	10: 80,150,235 (GRCm39)	G1763E	probably benign	Het
Bmp1	G	T	14: 70,727,613 (GRCm39)	R657S	possibly damaging	Het
Calm1	G	A	12: 100,171,979 (GRCm39)		probably null	Het
Ccdc150	C	A	1: 54,311,644 (GRCm39)	A210E	probably damaging	Het
Cdc42bpa	T	C	1: 179,958,401 (GRCm39)	I275T		Het
Cfap54	G	T	10: 92,830,579 (GRCm39)	Q1186K	probably benign	Het
Col6a6	A	G	9: 105,659,169 (GRCm39)	V592A	probably benign	Het
Colec11	A	T	12: 28,644,854 (GRCm39)	N213K	possibly damaging	Het
Dennd2b	C	T	7: 109,156,291 (GRCm39)	G153D	probably benign	Het
Dennd5b	G	A	6: 148,934,844 (GRCm39)	R676*	probably null	Het
Dnaaf5	T	G	5: 139,138,652 (GRCm39)	Y278D	probably damaging	Het
Dop1a	T	A	9: 86,371,796 (GRCm39)	Y162*	probably null	Het
Dync1li2	A	G	8: 105,150,255 (GRCm39)	L369P	possibly damaging	Het
Ebf1	A	G	11: 44,883,276 (GRCm39)	T505A	probably benign	Het
Ebf1	A	G	11: 44,895,548 (GRCm39)	I584M	probably benign	Het
Eif1ad17	A	G	12: 87,978,786 (GRCm39)	R57G	probably damaging	Het
Frmpd1	T	C	4: 45,285,367 (GRCm39)	L1396P	probably damaging	Het
Gart	A	T	16: 91,430,904 (GRCm39)	V386D	possibly damaging	Het
Gprin1	C	T	13: 54,885,601 (GRCm39)	R891H	probably damaging	Het
Gsap	G	A	5: 21,422,471 (GRCm39)	V147I	probably damaging	Het
Gsc	G	T	12: 104,439,120 (GRCm39)	Y85*	probably null	Het
Gtf2a1l	A	G	17: 88,976,152 (GRCm39)	N5S		Het
Hmcn2	T	C	2: 31,281,521 (GRCm39)	V1912A	possibly damaging	Het
Icos	G	T	1: 61,034,714 (GRCm39)	S179I	probably damaging	Het
Ifi209	T	C	1: 173,464,969 (GRCm39)	L33P	probably damaging	Het
Igsf10	A	G	3: 59,233,480 (GRCm39)	I1751T	possibly damaging	Het
Il31ra	T	C	13: 112,677,780 (GRCm39)	Y252C	probably damaging	Het
Ints6	A	T	14: 62,947,036 (GRCm39)	S310T	probably damaging	Het
Kcng1	A	T	2: 168,111,105 (GRCm39)	S20T	possibly damaging	Het
Klf15	T	C	6: 90,444,091 (GRCm39)	I222T	probably damaging	Het
Lmo7	A	T	14: 102,044,906 (GRCm39)	K53*	probably null	Het
Map10	C	A	8: 126,397,649 (GRCm39)	N347K	probably damaging	Het
Mrps11	C	A	7: 78,440,444 (GRCm39)	T111K	probably damaging	Het
Myom3	T	G	4: 135,506,710 (GRCm39)	D494E	probably benign	Het
Naalad2	T	A	9: 18,242,152 (GRCm39)	Y584F	probably damaging	Het
Ndufa9	A	G	6: 126,826,050 (GRCm39)	V9A	probably benign	Het
Nrcam	G	T	12: 44,615,329 (GRCm39)	V640F	possibly damaging	Het
Or10x4	C	T	1: 174,219,229 (GRCm39)	T198I	probably benign	Het
Or2t48	C	A	11: 58,420,473 (GRCm39)	G113V	probably damaging	Het
Or52d1	T	C	7: 103,755,720 (GRCm39)	M78T	probably benign	Het
Or5ak23	G	A	2: 85,244,848 (GRCm39)	A125V	probably damaging	Het
Pcdhga8	T	A	18: 37,860,892 (GRCm39)	H649Q	probably benign	Het
Pdk1	C	A	2: 71,730,402 (GRCm39)	H413Q	probably benign	Het
Pfkm	T	A	15: 98,027,161 (GRCm39)	H611Q	probably damaging	Het
Polr3g	T	C	13: 81,842,535 (GRCm39)	Y160C	unknown	Het
Ppargc1b	A	T	18: 61,443,993 (GRCm39)	M406K	probably benign	Het
Ptf1a	C	T	2: 19,450,536 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,295,264 (GRCm39)	C251S	possibly damaging	Het
Rnf32	A	G	5: 29,411,211 (GRCm39)	T166A	possibly damaging	Het
Sav1	A	T	12: 70,022,790 (GRCm39)	V254E	probably damaging	Het
Setd1a	C	T	7: 127,385,590 (GRCm39)	P766S	possibly damaging	Het
Skida1	T	A	2: 18,050,489 (GRCm39)	K801*	probably null	Het
Slc22a5	G	A	11: 53,774,547 (GRCm39)	T146I	probably benign	Het
Slc25a24	G	T	3: 109,064,268 (GRCm39)	A206S	possibly damaging	Het
Slc39a6	G	A	18: 24,733,970 (GRCm39)	R240W	probably damaging	Het
Ssc5d	T	A	7: 4,930,058 (GRCm39)	D46E	probably damaging	Het
Tekt4	C	T	17: 25,690,901 (GRCm39)	A69V	possibly damaging	Het
Tmigd1	T	A	11: 76,804,878 (GRCm39)	F239Y	probably benign	Het
Tpp1	T	A	7: 105,400,846 (GRCm39)	R60S	probably benign	Het
Trank1	A	T	9: 111,196,268 (GRCm39)	I1431F	probably damaging	Het
Trav15-1-dv6-1	G	T	14: 53,797,519 (GRCm39)	W56L	probably damaging	Het
Ugt2b38	A	G	5: 87,568,396 (GRCm39)	S300P	probably damaging	Het
Urah	T	A	7: 140,417,587 (GRCm39)	L119Q	unknown	Het
Uspl1	T	A	5: 149,141,148 (GRCm39)	F382L	probably damaging	Het
Vps9d1	T	A	8: 123,975,574 (GRCm39)	Q157L	probably damaging	Het
Wbp1l	G	A	19: 46,640,933 (GRCm39)	V88I	probably benign	Het
Zfp444	T	C	7: 6,191,157 (GRCm39)	S113P	probably damaging	Het
Zfp580	T	G	7: 5,056,152 (GRCm39)	S171A	possibly damaging	Het
Zfp607a	A	G	7: 27,577,382 (GRCm39)	I151V	probably benign	Het
Zfp827	T	C	8: 79,818,564 (GRCm39)	F614S	probably damaging	Het
Zic4	A	T	9: 91,260,913 (GRCm39)	Q56L	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
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
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'- AACCATTGCTGGGTACTGGAG -3'
(R):5'- GGAAATTATGCTTCACTTGGTAATG -3'

Sequencing Primer
(F):5'- ACCTTGGTTAAGACACTGGC -3'
(R):5'- GCTTCACTTGGTAATGAAAAATCG -3'

Posted On

2022-02-07