Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01359:Sec62'

75668

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec62

Ensembl Gene

ENSMUSG00000027706

Gene Name

SEC62 homolog, preprotein translocation

Synonyms

Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

IGL01359

Quality Score

Status

Chromosome

Chromosomal Location

30847025-30875412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30868455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 228 (S228N)

Ref Sequence

ENSEMBL: ENSMUSP00000029256 (fasta)

Gene Model

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

AlphaFold

Q8BU14

Predicted Effect

unknown
Transcript: ENSMUST00000029256
AA Change: S228N

SMART Domains

Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: S228N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195072

Coding Region Coverage

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	G	A	17: 43,621,577 (GRCm39)	E605K	probably damaging	Het
Adgrl4	G	A	3: 151,248,923 (GRCm39)	C737Y	probably damaging	Het
Ankk1	A	T	9: 49,327,328 (GRCm39)	I617N	possibly damaging	Het
B3gat2	T	C	1: 23,802,301 (GRCm39)	F196L	probably damaging	Het
Bcl2l14	T	A	6: 134,400,828 (GRCm39)	I83N	probably damaging	Het
Bcr	T	C	10: 74,995,611 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,009,939 (GRCm39)	I127N	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dnah11	T	C	12: 117,946,734 (GRCm39)	T3117A	probably damaging	Het
Dnai2	A	G	11: 114,642,614 (GRCm39)	Y405C	probably benign	Het
Emc2	A	G	15: 43,375,145 (GRCm39)	Y214C	probably damaging	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fkrp	C	T	7: 16,545,415 (GRCm39)	R149Q	probably benign	Het
Fsd1l	A	G	4: 53,659,601 (GRCm39)	R153G	possibly damaging	Het
Galnt4	T	C	10: 98,945,459 (GRCm39)	Y395H	probably damaging	Het
Gk5	T	C	9: 96,019,842 (GRCm39)	L126P	probably damaging	Het
Gm973	A	G	1: 59,669,438 (GRCm39)	S830G	probably benign	Het
Gpc5	G	A	14: 115,607,162 (GRCm39)	G255S	possibly damaging	Het
Grk3	C	A	5: 113,085,626 (GRCm39)	S370I	probably damaging	Het
Herc1	A	G	9: 66,346,550 (GRCm39)	D1972G	probably benign	Het
Itih3	T	A	14: 30,639,729 (GRCm39)	D364V	probably damaging	Het
Lce1f	G	T	3: 92,626,491 (GRCm39)	C55*	probably null	Het
Ltn1	A	C	16: 87,202,581 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,315 (GRCm39)	A8V	possibly damaging	Het
Mdn1	A	G	4: 32,743,686 (GRCm39)	E3974G	probably benign	Het
Msl3l2	T	C	10: 55,992,340 (GRCm39)	V355A	probably damaging	Het
Nadsyn1	T	C	7: 143,374,967 (GRCm39)	I30V	possibly damaging	Het
Nuggc	T	C	14: 65,860,656 (GRCm39)	V418A	probably damaging	Het
Or4f57	A	T	2: 111,791,406 (GRCm39)	M4K	probably benign	Het
Or52e8	T	C	7: 104,625,193 (GRCm39)		probably null	Het
Or52m2	A	T	7: 102,263,379 (GRCm39)	H272Q	probably benign	Het
Ppp4r3a	T	C	12: 101,024,755 (GRCm39)	E248G	probably damaging	Het
Rab3gap2	T	A	1: 184,971,067 (GRCm39)	V234E	probably damaging	Het
Radil	G	A	5: 142,529,468 (GRCm39)	T105I	probably damaging	Het
Saa4	A	G	7: 46,381,060 (GRCm39)	W21R	possibly damaging	Het
Setd4	C	T	16: 93,388,127 (GRCm39)	G120S	probably damaging	Het
Sgpl1	G	A	10: 60,936,687 (GRCm39)	T556I	probably benign	Het
Slc14a2	T	C	18: 78,197,323 (GRCm39)	D811G	probably benign	Het
Slc26a11	A	T	11: 119,254,257 (GRCm39)	M192L	probably benign	Het
Spon1	A	T	7: 113,633,525 (GRCm39)	Q656L	probably damaging	Het
Tex15	A	G	8: 34,071,926 (GRCm39)	D2491G	probably damaging	Het
Tox	T	C	4: 6,697,583 (GRCm39)	T407A	probably damaging	Het
Ubr5	A	T	15: 37,973,250 (GRCm39)	I2611N	probably damaging	Het
Usp25	G	A	16: 76,856,141 (GRCm39)	A245T	probably damaging	Het
Vwa8	C	A	14: 79,302,353 (GRCm39)	Y1007*	probably null	Het
Zfp423	T	C	8: 88,507,290 (GRCm39)	H893R	probably damaging	Het
Zfp507	A	G	7: 35,493,927 (GRCm39)	I372T	probably damaging	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
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
R4837:Sec62	UTSW	3	30,864,018 (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

Posted On

2013-10-07