Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Sec62'

652660

Institutional Source

Beutler Lab

Gene Symbol

Sec62

Ensembl Gene

ENSMUSG00000027706

Gene Name

SEC62 homolog, preprotein translocation

Synonyms

Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik

MMRRC Submission

067881-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30847025-30875412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 30872931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 338 (E338A)

Ref Sequence

ENSEMBL: ENSMUSP00000029256 (fasta)

Gene Model

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

AlphaFold

Q8BU14

Predicted Effect

unknown
Transcript: ENSMUST00000029256
AA Change: E338A

SMART Domains

Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: E338A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,285,588 (GRCm39)	S89P	probably benign	Het
Aatf	A	T	11: 84,361,502 (GRCm39)	M367K	probably benign	Het
Adam18	A	T	8: 25,142,143 (GRCm39)	I211N	probably damaging	Het
Angpt1	T	C	15: 42,290,430 (GRCm39)	Y478C	probably damaging	Het
Apba2	A	T	7: 64,386,674 (GRCm39)	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,286,759 (GRCm39)	K50N	probably benign	Het
Arfgef2	A	T	2: 166,715,903 (GRCm39)	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,597,208 (GRCm39)	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,720,032 (GRCm39)	V621A	probably benign	Het
Catsperz	A	T	19: 6,899,930 (GRCm39)	L192M	probably benign	Het
Cd5	G	A	19: 10,697,585 (GRCm39)	P465S	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cfap61	A	G	2: 145,789,103 (GRCm39)	E94G	probably benign	Het
Chd1	A	G	17: 15,982,711 (GRCm39)	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,688,888 (GRCm39)	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,179 (GRCm39)	R292C	probably benign	Het
Dcaf6	T	A	1: 165,216,244 (GRCm39)	H453L	probably benign	Het
Dnah3	C	A	7: 119,610,253 (GRCm39)	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,028,693 (GRCm39)	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,283,053 (GRCm39)	Y74F	probably benign	Het
Gm5464	T	C	14: 67,106,555 (GRCm39)	L64P	unknown	Het
Gm5624	T	G	14: 44,799,347 (GRCm39)	N70T		Het
Kcnh7	T	A	2: 62,594,952 (GRCm39)	H706L	probably damaging	Het
Kdm2b	C	T	5: 123,018,239 (GRCm39)	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,996,864 (GRCm39)	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,027,605 (GRCm39)	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,833,187 (GRCm39)	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,886,980 (GRCm39)	V142I	probably benign	Het
Mmp24	G	T	2: 155,655,935 (GRCm39)	V458L	probably benign	Het
Mpl	C	A	4: 118,303,306 (GRCm39)	S502I		Het
Nfatc1	A	T	18: 80,710,257 (GRCm39)	V503D	probably damaging	Het
Nim1k	A	G	13: 120,175,807 (GRCm39)	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031 (GRCm38)	Y327C	probably damaging	Het
Oma1	C	T	4: 103,186,113 (GRCm39)	R360*	probably null	Het
Oog2	T	A	4: 143,920,743 (GRCm39)	W59R	probably damaging	Het
Or4c109	T	C	2: 88,818,409 (GRCm39)	T46A	probably benign	Het
Pcdh10	A	G	3: 45,333,974 (GRCm39)	E96G	probably damaging	Het
Pcna	T	A	2: 132,093,850 (GRCm39)	T98S	probably benign	Het
Pcnx3	C	T	19: 5,729,618 (GRCm39)	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,593,883 (GRCm39)	N97S	probably benign	Het
Plekhg4	G	A	8: 106,103,961 (GRCm39)	W431*	probably null	Het
Plk4	A	G	3: 40,767,901 (GRCm39)	T815A	probably benign	Het
Pnma2	C	T	14: 67,153,762 (GRCm39)	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568 (GRCm39)	R548W	probably damaging	Het
Ptx3	A	G	3: 66,132,201 (GRCm39)	S241G	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rplp0	A	T	5: 115,698,823 (GRCm39)	K26N	probably damaging	Het
Sema6a	T	C	18: 47,382,022 (GRCm39)	M842V	probably benign	Het
Serpina3j	T	C	12: 104,281,043 (GRCm39)	V72A	probably benign	Het
Siglecf	T	C	7: 43,001,368 (GRCm39)	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,705,880 (GRCm39)	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,108,398 (GRCm39)	F54Y	probably benign	Het
Spag6	G	A	2: 18,715,394 (GRCm39)	V80M	probably damaging	Het
Spic	T	C	10: 88,514,498 (GRCm39)	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,898,154 (GRCm39)	K469E	possibly damaging	Het
Them7	T	A	2: 105,128,190 (GRCm39)	L57Q	probably benign	Het
Tlr3	G	A	8: 45,849,978 (GRCm39)	A897V	probably damaging	Het
Tnp2	A	G	16: 10,606,372 (GRCm39)	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,831,332 (GRCm39)	Q1399L	probably benign	Het
Ttn	C	A	2: 76,677,015 (GRCm39)	E11074*	probably null	Het
Ubash3b	G	A	9: 40,954,781 (GRCm39)	A243V	probably benign	Het
Vash1	G	A	12: 86,726,952 (GRCm39)	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,204,981 (GRCm39)	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,767,562 (GRCm39)	H645L	probably benign	Het
Vmn2r75	A	T	7: 85,797,722 (GRCm39)	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,308,126 (GRCm39)	I704T	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
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
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
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'- GGAGGAAGGCACCACTTTTG -3'
(R):5'- GCAGATTTAGGCACCTCTCC -3'

Sequencing Primer
(F):5'- AAACCTGACTGCTGACGTG -3'
(R):5'- AGATTTAGGCACCTCTCCATCTTTG -3'

Posted On

2020-10-20