Mutagenetix > Incidental Mutation

Incidental Mutation 'R8537:Sec62'

659276

Institutional Source

Beutler Lab

Gene Symbol

Sec62

Ensembl Gene

ENSMUSG00000027706

Gene Name

SEC62 homolog, preprotein translocation

Synonyms

Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik

MMRRC Submission

067891-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R8537 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30847025-30875412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 30872961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 348 (R348L)

Ref Sequence

ENSEMBL: ENSMUSP00000029256 (fasta)

Gene Model

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

AlphaFold

Q8BU14

Predicted Effect

unknown
Transcript: ENSMUST00000029256
AA Change: R348L

SMART Domains

Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: R348L

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,684,491 (GRCm39)	D1790V	probably damaging	Het
Aopep	A	T	13: 63,338,364 (GRCm39)	E579V	probably damaging	Het
Avl9	T	A	6: 56,705,644 (GRCm39)	Y175*	probably null	Het
Bmp2	A	T	2: 133,403,202 (GRCm39)	D251V	probably damaging	Het
Camsap2	T	A	1: 136,204,943 (GRCm39)	K1191N	probably damaging	Het
Ccdc102a	A	C	8: 95,632,684 (GRCm39)	F431C	probably benign	Het
Ccdc186	T	C	19: 56,798,677 (GRCm39)	I270M	probably damaging	Het
Copb2	A	G	9: 98,469,672 (GRCm39)	Q851R	probably null	Het
Cyp11b2	C	T	15: 74,728,016 (GRCm39)	R22K	probably benign	Het
Ddx50	A	G	10: 62,478,628 (GRCm39)	F186S	probably damaging	Het
Dhx38	T	C	8: 110,280,012 (GRCm39)	Y926C	probably damaging	Het
Dmrt2	T	C	19: 25,651,300 (GRCm39)	M162T	possibly damaging	Het
Dnah10	G	T	5: 124,893,164 (GRCm39)	G3309V	probably damaging	Het
Dnajb2	T	C	1: 75,216,242 (GRCm39)	F107S	probably damaging	Het
Dock8	T	A	19: 25,107,870 (GRCm39)	S867T	probably benign	Het
Eif2ak1	C	A	5: 143,835,887 (GRCm39)	T526K	probably damaging	Het
Gnas	T	C	2: 174,140,394 (GRCm39)	S188P	possibly damaging	Het
Gpam	T	C	19: 55,084,671 (GRCm39)	D36G	probably benign	Het
Gucy2e	C	A	11: 69,127,179 (GRCm39)	R98L	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hnrnpu	T	C	1: 178,161,199 (GRCm39)		probably benign	Het
Icos	A	G	1: 61,033,101 (GRCm39)	D100G	probably damaging	Het
Ifi203	A	T	1: 173,756,472 (GRCm39)		probably benign	Het
Ift46	T	A	9: 44,695,280 (GRCm39)	L92Q	probably damaging	Het
Kcnip2	C	T	19: 45,804,169 (GRCm39)		probably null	Het
Lgr5	T	C	10: 115,288,307 (GRCm39)	Y779C	probably damaging	Het
Ltk	G	T	2: 119,588,588 (GRCm39)	P287Q	probably benign	Het
Mapk8ip3	A	T	17: 25,120,652 (GRCm39)	C852*	probably null	Het
Mmp27	A	G	9: 7,579,776 (GRCm39)	M443V	probably benign	Het
Muc6	T	C	7: 141,234,184 (GRCm39)	D769G	probably benign	Het
Myo7b	T	C	18: 32,110,142 (GRCm39)	I1107V	probably benign	Het
Nebl	T	A	2: 17,355,520 (GRCm39)	H211L	probably benign	Het
Oaz3	T	A	3: 94,343,742 (GRCm39)	K40N	probably damaging	Het
Or5as1	T	A	2: 86,980,382 (GRCm39)	T208S	probably benign	Het
Or7e169	T	A	9: 19,757,848 (GRCm39)	E22D	probably damaging	Het
Osbpl10	G	T	9: 115,058,977 (GRCm39)	A718S	probably benign	Het
Ppp3ca	T	A	3: 136,503,619 (GRCm39)	I64K	possibly damaging	Het
Prlr	T	C	15: 10,314,266 (GRCm39)		probably benign	Het
Rab3ip	A	G	10: 116,746,059 (GRCm39)	I424T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Sema5b	C	T	16: 35,471,979 (GRCm39)	A479V	possibly damaging	Het
Shank3	T	C	15: 89,416,418 (GRCm39)	I222T	probably damaging	Het
Sp1	C	T	15: 102,316,964 (GRCm39)	T154I	possibly damaging	Het
Spata31e1	A	G	13: 49,940,108 (GRCm39)	V534A	possibly damaging	Het
Srek1	A	G	13: 103,888,957 (GRCm39)		probably benign	Het
Tmem129	A	G	5: 33,812,920 (GRCm39)	S143P	possibly damaging	Het
Tmem202	A	T	9: 59,426,929 (GRCm39)	C194S	probably benign	Het
Tmprss15	A	T	16: 78,884,403 (GRCm39)	I93K	probably damaging	Het
Ttn	A	G	2: 76,606,653 (GRCm39)	Y16340H	probably damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		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
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
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'- GCCCCTGTACACACATGAGTAC -3'
(R):5'- ATGATGATCGGCCAACACAG -3'

Sequencing Primer
(F):5'- CTGTACACACATGAGTACAAAGG -3'
(R):5'- AACCCAACCTGCTGTACTTATTTAG -3'

Posted On

2021-01-18