Mutagenetix > Incidental Mutation

Incidental Mutation 'R6275:Sec62'

507562

Institutional Source

Beutler Lab

Gene Symbol

Sec62

Ensembl Gene

ENSMUSG00000027706

Gene Name

SEC62 homolog, preprotein translocation

Synonyms

Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik

MMRRC Submission

044445-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.875) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30847025-30875412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30863985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 89 (Q89R)

Ref Sequence

ENSEMBL: ENSMUSP00000029256 (fasta)

Gene Model

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

AlphaFold

Q8BU14

Predicted Effect

probably damaging
Transcript: ENSMUST00000029256
AA Change: Q89R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: Q89R

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

0.1941

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,833,625 (GRCm39)	L30H	probably damaging	Het
Abcb6	T	C	1: 75,149,195 (GRCm39)		probably null	Het
Acsbg1	T	A	9: 54,517,056 (GRCm39)	M586L	probably benign	Het
Ano6	A	T	15: 95,811,314 (GRCm39)	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,830,575 (GRCm39)	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,531,519 (GRCm39)	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,036,489 (GRCm39)	M144I	probably damaging	Het
Cdca3	C	T	6: 124,809,627 (GRCm39)		probably null	Het
Ces1h	A	T	8: 94,099,274 (GRCm39)	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216 (GRCm39)	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,440,859 (GRCm39)	P126T	probably benign	Het
Dnah10	A	G	5: 124,862,248 (GRCm39)	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,269,311 (GRCm39)	N1147Y	possibly damaging	Het
Eif1ad15	T	C	12: 88,287,995 (GRCm39)	D86G	possibly damaging	Het
Eif1ad16	T	C	12: 87,985,255 (GRCm39)	N96S	probably benign	Het
Ermap	C	T	4: 119,035,747 (GRCm39)	V414M	probably damaging	Het
Fam13a	A	G	6: 58,931,242 (GRCm39)	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,896,153 (GRCm39)	H155R	possibly damaging	Het
Folr1	T	A	7: 101,508,742 (GRCm39)	N61I	probably damaging	Het
Fsip1	T	C	2: 118,035,583 (GRCm39)	I431V	probably benign	Het
Gm5493	A	T	17: 22,969,043 (GRCm39)	E74D	probably benign	Het
H2-Oa	A	G	17: 34,313,540 (GRCm39)	D197G	probably benign	Het
Hps1	T	C	19: 42,758,046 (GRCm39)	E169G	probably null	Het
Il17rc	A	T	6: 113,457,308 (GRCm39)	M372L	probably benign	Het
Itga10	A	G	3: 96,565,501 (GRCm39)	S1042G	probably benign	Het
Jchain	A	T	5: 88,669,212 (GRCm39)	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,473 (GRCm39)	T211A	probably benign	Het
Mal2	T	C	15: 54,435,035 (GRCm39)		probably null	Het
Mov10l1	T	A	15: 88,910,823 (GRCm39)	I1071N	probably damaging	Het
Mpp2	T	A	11: 101,951,795 (GRCm39)	Y401F	probably damaging	Het
Myh15	A	G	16: 48,965,610 (GRCm39)	T1172A	probably benign	Het
Or51q1	T	A	7: 103,629,181 (GRCm39)	S261T	probably damaging	Het
Pcnx1	G	T	12: 81,965,381 (GRCm39)	S516I	probably benign	Het
Pidd1	C	T	7: 141,019,708 (GRCm39)	A685T	probably damaging	Het
Psg28	A	C	7: 18,164,365 (GRCm39)	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,329,458 (GRCm39)		probably benign	Het
Rapgefl1	T	A	11: 98,741,946 (GRCm39)	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,691,206 (GRCm39)	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408 (GRCm39)	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Serpina6	T	A	12: 103,614,979 (GRCm39)	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,333,678 (GRCm39)	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc26a11	T	C	11: 119,250,125 (GRCm39)	F127L	probably benign	Het
Spata31h1	T	C	10: 82,121,202 (GRCm39)	D3936G	probably damaging	Het
Stac3	T	A	10: 127,343,615 (GRCm39)	Y252*	probably null	Het
Stoml3	G	A	3: 53,414,927 (GRCm39)	A240T	probably damaging	Het
Tanc1	A	T	2: 59,673,854 (GRCm39)	H1653L	probably benign	Het
Tll1	A	T	8: 64,504,401 (GRCm39)	L665*	probably null	Het
Tnr	A	C	1: 159,688,840 (GRCm39)	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,511,354 (GRCm39)	D165E	probably benign	Het
Tsc2	A	G	17: 24,819,394 (GRCm39)	V1185A	probably benign	Het
Tulp4	A	G	17: 6,249,011 (GRCm39)	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,261,980 (GRCm39)	M72K	possibly damaging	Het
Usp42	G	A	5: 143,700,727 (GRCm39)	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883 (GRCm39)	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,418,972 (GRCm39)	L659*	probably null	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
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'- GACCTGTTCTTTGTGGAATTCC -3'
(R):5'- TCATGGCAGGTATCTCACATGG -3'

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

Posted On

2018-03-15