Mutagenetix > Incidental Mutation

Incidental Mutation 'R6153:Sec62'

489365

Institutional Source

Beutler Lab

Gene Symbol

Sec62

Ensembl Gene

ENSMUSG00000027706

Gene Name

SEC62 homolog, preprotein translocation

Synonyms

Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik

MMRRC Submission

044300-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

R6153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30847025-30875412 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30864631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 165 (K165M)

Ref Sequence

ENSEMBL: ENSMUSP00000029256 (fasta)

Gene Model

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

AlphaFold

Q8BU14

Predicted Effect

unknown
Transcript: ENSMUST00000029256
AA Change: K165M

SMART Domains

Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: K165M

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

0.4031

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

99% (66/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,251,259 (GRCm39)		probably null	Het
Ache	T	C	5: 137,290,117 (GRCm39)	I394T	probably damaging	Het
Acsm1	G	A	7: 119,232,289 (GRCm39)	G62D	probably damaging	Het
Actrt3	T	A	3: 30,653,899 (GRCm39)	I34F	probably damaging	Het
Adgrf5	T	C	17: 43,761,974 (GRCm39)	I1223T	possibly damaging	Het
Adora2a	T	C	10: 75,161,981 (GRCm39)	F40S	possibly damaging	Het
Ano8	T	C	8: 71,933,441 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,293,107 (GRCm39)	L675Q	probably damaging	Het
Atg2b	T	C	12: 105,589,741 (GRCm39)	I1837V	possibly damaging	Het
Atp10b	A	G	11: 43,145,109 (GRCm39)	Y1284C	probably damaging	Het
B3gnt7	G	T	1: 86,233,237 (GRCm39)	G44V	probably damaging	Het
Chrna1	G	T	2: 73,403,653 (GRCm39)	H99N	probably benign	Het
Cnksr1	T	C	4: 133,961,204 (GRCm39)	H220R	probably damaging	Het
Cpsf2	T	A	12: 101,965,619 (GRCm39)		probably null	Het
Daglb	T	C	5: 143,489,096 (GRCm39)	L651P	probably benign	Het
Ddx60	A	G	8: 62,398,974 (GRCm39)	D231G	possibly damaging	Het
Ehd4	A	C	2: 119,932,904 (GRCm39)	F174C	probably damaging	Het
Emsy	G	T	7: 98,260,060 (GRCm39)	P9T	probably damaging	Het
Fnbp1l	T	C	3: 122,352,805 (GRCm39)	E217G	probably benign	Het
Gm11596	A	T	11: 99,683,524 (GRCm39)	C199S	unknown	Het
Gmps	T	G	3: 63,908,964 (GRCm39)	C489G	probably benign	Het
Gpsm1	T	C	2: 26,215,425 (GRCm39)	Y296H	probably benign	Het
Heatr5b	T	C	17: 79,138,870 (GRCm39)	T91A	possibly damaging	Het
Hs3st3b1	A	T	11: 63,780,324 (GRCm39)	W268R	probably damaging	Het
Il27ra	T	C	8: 84,758,773 (GRCm39)		probably null	Het
Itga5	T	A	15: 103,265,880 (GRCm39)	I156F	probably damaging	Het
Kcnmb3	T	A	3: 32,527,976 (GRCm39)	D96V	probably damaging	Het
Khdrbs1	T	A	4: 129,609,965 (GRCm39)	N417Y	probably damaging	Het
Loxhd1	A	G	18: 77,383,454 (GRCm39)	N118D	possibly damaging	Het
Mdm4	A	G	1: 132,919,845 (GRCm39)	L341P	probably damaging	Het
Mecom	T	C	3: 30,047,797 (GRCm39)	E225G	possibly damaging	Het
Megf8	G	A	7: 25,046,796 (GRCm39)	G1560S	possibly damaging	Het
Mfsd13a	A	T	19: 46,356,321 (GRCm39)	D142V	probably damaging	Het
Muc5b	A	T	7: 141,415,181 (GRCm39)	Y2709F	possibly damaging	Het
Nelfa	A	T	5: 34,056,223 (GRCm39)	I480N	probably damaging	Het
Or10ak8	G	A	4: 118,773,944 (GRCm39)	S240F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Palld	G	T	8: 62,003,186 (GRCm39)	N304K	probably damaging	Het
Pcsk5	A	G	19: 17,488,856 (GRCm39)	L988P	probably damaging	Het
Prmt1	A	T	7: 44,631,251 (GRCm39)	F34I	probably damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Ralb	A	T	1: 119,405,870 (GRCm39)		probably null	Het
Robo2	T	A	16: 73,717,617 (GRCm39)	D141V	probably damaging	Het
Rsrc1	T	C	3: 67,262,895 (GRCm39)	I283T	probably benign	Het
Sez6	A	G	11: 77,868,648 (GRCm39)	D974G	probably damaging	Het
Shc2	T	A	10: 79,465,752 (GRCm39)	I187F	possibly damaging	Het
Shroom3	G	A	5: 93,112,267 (GRCm39)	R1876Q	probably damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Skil	T	A	3: 31,152,002 (GRCm39)	F175I	probably damaging	Het
Slc1a1	T	C	19: 28,886,935 (GRCm39)	V432A	probably damaging	Het
Slit3	G	T	11: 35,591,310 (GRCm39)	G1374V	possibly damaging	Het
Snx14	T	C	9: 88,273,859 (GRCm39)	Y644C	probably damaging	Het
Snx33	T	A	9: 56,833,983 (GRCm39)	I29F	possibly damaging	Het
Sos1	T	A	17: 80,756,764 (GRCm39)	I263L	probably benign	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tbpl2	C	A	2: 23,966,028 (GRCm39)	V320F	probably damaging	Het
Tmem209	A	G	6: 30,505,794 (GRCm39)	S171P	probably benign	Het
Tprkb	T	A	6: 85,893,172 (GRCm39)		probably null	Het
Tspan11	G	A	6: 127,916,061 (GRCm39)	S119N	probably benign	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp976	A	C	7: 42,263,610 (GRCm39)	Y76D	probably damaging	Het
Zkscan2	G	A	7: 123,088,993 (GRCm39)	T426I	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
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'- GCCATGTGAGATACCTGCCATG -3'
(R):5'- GGAAACCTGTGTTGTACTAAGC -3'

Sequencing Primer
(F):5'- CCTGCCATGATTATTTGTAAACACCG -3'
(R):5'- CTGATTCTAACTAGATTAGAAACGT -3'

Posted On

2017-10-10