Mutagenetix > Incidental Mutation

Incidental Mutation 'R4837:Sec62'

374325

Institutional Source

Beutler Lab

Gene Symbol

Sec62

Ensembl Gene

ENSMUSG00000027706

Gene Name

SEC62 homolog, preprotein translocation

Synonyms

Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik

MMRRC Submission

042452-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R4837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30847025-30875412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30864018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 100 (M100K)

Ref Sequence

ENSEMBL: ENSMUSP00000029256 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029256]

AlphaFold

Q8BU14

Predicted Effect

unknown
Transcript: ENSMUST00000029256
AA Change: M100K

SMART Domains

Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: M100K

Domain	Start	End	E-Value	Type
Pfam:Sec62	87	311	1.1e-78	PFAM
low complexity region	338	357	N/A	INTRINSIC
low complexity region	376	389	N/A	INTRINSIC

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

99% (75/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,846,203 (GRCm39)	H618L	probably benign	Het
Adgrl3	A	G	5: 81,914,081 (GRCm39)	T1230A	probably benign	Het
Ahnak2	A	G	12: 112,749,359 (GRCm39)	S203P	probably benign	Het
Allc	A	G	12: 28,609,308 (GRCm39)	V244A	probably benign	Het
Ap3m1	G	A	14: 21,087,225 (GRCm39)	P157L	probably damaging	Het
Arhgef2	T	G	3: 88,540,250 (GRCm39)	I97S	probably damaging	Het
Btaf1	C	A	19: 36,944,185 (GRCm39)	T398K	probably benign	Het
Cabp1	T	C	5: 115,311,212 (GRCm39)	M158V	probably damaging	Het
Ccdc162	G	A	10: 41,549,863 (GRCm39)	P340L	probably benign	Het
Ccdc168	G	A	1: 44,100,594 (GRCm39)	T168I	possibly damaging	Het
Clip4	A	G	17: 72,141,217 (GRCm39)	K524E	probably damaging	Het
Cltc	A	G	11: 86,586,474 (GRCm39)	V189A	probably benign	Het
Cmc2	A	G	8: 117,620,879 (GRCm39)	F34S	probably damaging	Het
Ctcfl	G	T	2: 172,955,449 (GRCm39)	T271N	probably benign	Het
Cyp4f16	T	A	17: 32,761,738 (GRCm39)	F124I	possibly damaging	Het
Ddx41	C	A	13: 55,679,461 (GRCm39)	R479L	possibly damaging	Het
Dgcr6	C	A	16: 17,884,710 (GRCm39)	N87K	possibly damaging	Het
Dll1	A	G	17: 15,589,121 (GRCm39)	L518P	probably damaging	Het
Dnaja4	G	T	9: 54,617,928 (GRCm39)	M263I	probably benign	Het
Dusp13b	T	A	14: 21,793,593 (GRCm39)		probably benign	Het
Fam185a	T	A	5: 21,685,375 (GRCm39)	I357N	probably benign	Het
Fam186a	T	C	15: 99,838,678 (GRCm39)	Y2522C	unknown	Het
Fam222a	T	A	5: 114,732,458 (GRCm39)	C4*	probably null	Het
Filip1	T	C	9: 79,726,741 (GRCm39)	D626G	probably damaging	Het
Ghrhr	C	T	6: 55,365,172 (GRCm39)	R389C	probably damaging	Het
Gstm3	T	A	3: 107,871,531 (GRCm39)	T217S	probably benign	Het
Gucy2g	T	C	19: 55,214,485 (GRCm39)	T548A	probably benign	Het
Hectd3	T	A	4: 116,859,794 (GRCm39)	C744S	probably null	Het
Hnrnpl	T	C	7: 28,516,762 (GRCm39)	S184P	probably benign	Het
Il3	G	A	11: 54,158,083 (GRCm39)		probably benign	Het
Itga5	C	T	15: 103,262,511 (GRCm39)	G330S	probably damaging	Het
Kl	A	G	5: 150,904,312 (GRCm39)	T355A	possibly damaging	Het
Lipk	A	C	19: 34,009,720 (GRCm39)	S208R	probably damaging	Het
Mrs2	T	A	13: 25,183,040 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,674,887 (GRCm39)	E372G	probably damaging	Het
Myh4	C	A	11: 67,149,818 (GRCm39)	A1821D	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nlrp12	T	C	7: 3,279,693 (GRCm39)	E881G	probably damaging	Het
Nol9	T	C	4: 152,136,552 (GRCm39)		probably benign	Het
Nwd1	A	G	8: 73,383,759 (GRCm39)	E52G	probably damaging	Het
Opn4	A	G	14: 34,318,261 (GRCm39)	V242A	probably damaging	Het
Or4e1	A	T	14: 52,701,103 (GRCm39)	M121K	probably damaging	Het
Or4k44	T	A	2: 111,368,319 (GRCm39)	H105L	probably damaging	Het
Or5m13	A	G	2: 85,748,748 (GRCm39)	T160A	probably benign	Het
Or6b1	T	G	6: 42,814,783 (GRCm39)		probably null	Het
Or6b2b	A	G	1: 92,418,697 (GRCm39)	V260A	probably benign	Het
Paxbp1	G	A	16: 90,831,866 (GRCm39)	Q341*	probably null	Het
Pcdh7	T	C	5: 57,877,753 (GRCm39)	V436A	possibly damaging	Het
Pcdhb18	G	A	18: 37,622,867 (GRCm39)	V66M	probably damaging	Het
Pikfyve	A	G	1: 65,285,749 (GRCm39)	E951G	possibly damaging	Het
Plcg1	A	G	2: 160,592,906 (GRCm39)	N179S	probably benign	Het
Prr11	A	C	11: 86,989,517 (GRCm39)	S285A	probably benign	Het
Ranbp17	A	G	11: 33,278,451 (GRCm39)	S139P	probably damaging	Het
Rasa4	G	A	5: 136,120,664 (GRCm39)		probably null	Het
Rnf213	G	C	11: 119,333,589 (GRCm39)	G2934R	probably benign	Het
Rpap1	A	G	2: 119,608,732 (GRCm39)	V210A	probably benign	Het
Rpn1	T	A	6: 88,067,187 (GRCm39)	N182K	probably benign	Het
Rps24	C	T	14: 24,541,855 (GRCm39)	T14I	possibly damaging	Het
Rrp12	C	T	19: 41,865,944 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,108,539 (GRCm39)		probably null	Het
Rufy1	A	G	11: 50,292,320 (GRCm39)	S490P	probably damaging	Het
Spata16	A	G	3: 26,787,081 (GRCm39)	H253R	possibly damaging	Het
Srcap	T	C	7: 127,158,134 (GRCm39)		probably benign	Het
Srrm1	A	G	4: 135,072,823 (GRCm39)		probably benign	Het
Tbcd	G	A	11: 121,473,611 (GRCm39)		probably null	Het
Tedc2	C	A	17: 24,439,567 (GRCm39)	A25S	probably damaging	Het
Tnr	A	T	1: 159,512,358 (GRCm39)		probably benign	Het
Tnxb	A	C	17: 34,936,981 (GRCm39)	D3730A	probably damaging	Het
Tor2a	G	A	2: 32,650,609 (GRCm39)	G201D	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Vmn1r211	G	T	13: 23,036,296 (GRCm39)	Q124K	probably benign	Het
Wasf3	T	C	5: 146,397,788 (GRCm39)	V185A	probably benign	Het
Zbtb12	A	G	17: 35,114,985 (GRCm39)	T257A	probably benign	Het

Other mutations in Sec62

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00323:Sec62	APN	3	30,864,591 (GRCm39)	splice site	probably benign
IGL01359:Sec62	APN	3	30,868,455 (GRCm39)	missense	unknown
IGL01746:Sec62	APN	3	30,868,395 (GRCm39)	missense	probably benign	0.39
IGL02437:Sec62	APN	3	30,872,996 (GRCm39)	missense	unknown
IGL03355:Sec62	APN	3	30,864,071 (GRCm39)	missense	unknown
R2400:Sec62	UTSW	3	30,864,681 (GRCm39)	missense	unknown
R4423:Sec62	UTSW	3	30,868,431 (GRCm39)	missense	unknown
R4649:Sec62	UTSW	3	30,864,683 (GRCm39)	missense	unknown
R4717:Sec62	UTSW	3	30,864,020 (GRCm39)	missense	unknown
R5775:Sec62	UTSW	3	30,847,436 (GRCm39)	utr 5 prime	probably benign
R6153:Sec62	UTSW	3	30,864,631 (GRCm39)	missense	unknown
R6275:Sec62	UTSW	3	30,863,985 (GRCm39)	missense	probably damaging	0.98
R6734:Sec62	UTSW	3	30,864,609 (GRCm39)	missense	probably benign	0.39
R7216:Sec62	UTSW	3	30,872,978 (GRCm39)	nonsense	probably null
R7250:Sec62	UTSW	3	30,866,496 (GRCm39)	missense	possibly damaging	0.57
R7453:Sec62	UTSW	3	30,863,945 (GRCm39)	splice site	probably null
R8411:Sec62	UTSW	3	30,872,931 (GRCm39)	missense	unknown
R8537:Sec62	UTSW	3	30,872,961 (GRCm39)	missense	unknown
R8769:Sec62	UTSW	3	30,864,177 (GRCm39)	critical splice donor site	probably null
R8856:Sec62	UTSW	3	30,847,506 (GRCm39)	missense	possibly damaging	0.54
R8907:Sec62	UTSW	3	30,864,621 (GRCm39)	missense	unknown
R8957:Sec62	UTSW	3	30,864,671 (GRCm39)	missense	unknown
R8969:Sec62	UTSW	3	30,873,024 (GRCm39)	missense	unknown
R9089:Sec62	UTSW	3	30,868,383 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- ATTGACCTGTTCTTTGTGGAATTCC -3'
(R):5'- GCAGGTATCTCACATGGCTC -3'

Sequencing Primer
(F):5'- CTGTTCTTTGTGGAATTCCTTGTTTG -3'
(R):5'- ACATCTGCAGCATGTGTACG -3'

Posted On

2016-03-01