Mutagenetix > Incidental Mutation

Incidental Mutation 'R9760:Sec63'

732960

Institutional Source

Beutler Lab

Gene Symbol

Sec63

Ensembl Gene

ENSMUSG00000019802

Gene Name

SEC63 homolog, protein translocation regulator

Synonyms

5730478J10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9760 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42637492-42708510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42704944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 733 (I733V)

Ref Sequence

ENSEMBL: ENSMUSP00000019937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019937]

AlphaFold

Q8VHE0

Predicted Effect

probably benign
Transcript: ENSMUST00000019937
AA Change: I733V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000019937
Gene: ENSMUSG00000019802
AA Change: I733V

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
DnaJ	103	157	6.14e-23	SMART
Blast:Sec63	170	208	9e-6	BLAST
Sec63	219	714	6.98e-10	SMART
low complexity region	734	760	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.7%

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 SEC62 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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	C	16: 8,399,794 (GRCm39)		probably null	Het
Adamts4	G	A	1: 171,086,334 (GRCm39)	D709N	probably benign	Het
Arhgef12	G	T	9: 42,903,318 (GRCm39)	D745E	probably damaging	Het
Cep250	A	G	2: 155,818,473 (GRCm39)	K883E	probably benign	Het
Cfdp1	T	C	8: 112,495,415 (GRCm39)	I268V	probably benign	Het
Cgnl1	G	T	9: 71,552,853 (GRCm39)	S1037*	probably null	Het
Clca3b	T	C	3: 144,552,610 (GRCm39)	N142S	probably benign	Het
Col6a6	A	T	9: 105,659,253 (GRCm39)	I564N	probably damaging	Het
Coq4	G	T	2: 29,678,482 (GRCm39)	R36L	probably benign	Het
Dact3	G	A	7: 16,620,131 (GRCm39)	S542N	unknown	Het
Dcaf1	A	G	9: 106,751,466 (GRCm39)	D1480G	unknown	Het
Dcdc2a	C	T	13: 25,389,443 (GRCm39)	T457I	probably damaging	Het
Ddi2	A	G	4: 141,411,196 (GRCm39)	V572A	probably damaging	Het
Ddx54	C	T	5: 120,761,672 (GRCm39)	R483C	probably benign	Het
Dennd5b	G	A	6: 148,969,997 (GRCm39)	S152F	probably benign	Het
Efcab14	C	T	4: 115,616,072 (GRCm39)	H252Y	probably benign	Het
Efhb	A	T	17: 53,770,298 (GRCm39)	F4I	probably damaging	Het
Esrrg	A	G	1: 187,775,569 (GRCm39)	D32G	probably benign	Het
Far2	C	A	6: 148,060,448 (GRCm39)	A267E	probably damaging	Het
Fhip2b	A	C	14: 70,827,621 (GRCm39)	V158G	possibly damaging	Het
Flnb	T	C	14: 7,929,846 (GRCm38)	I1992T	probably damaging	Het
Fmnl2	A	G	2: 52,944,527 (GRCm39)	S169G		Het
Galnt10	G	A	11: 57,656,514 (GRCm39)	V233I	probably benign	Het
Gbf1	C	A	19: 46,244,137 (GRCm39)	N210K	probably benign	Het
Gbp3	T	G	3: 142,276,283 (GRCm39)	S460A	probably benign	Het
Gm12185	T	A	11: 48,806,168 (GRCm39)	H341L	probably benign	Het
Gm5592	A	T	7: 40,939,234 (GRCm39)	I839F	possibly damaging	Het
Gnptab	A	G	10: 88,267,310 (GRCm39)	D467G	probably damaging	Het
Grin3a	A	T	4: 49,714,213 (GRCm39)	M844K	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,020 (GRCm39)	D368G	probably benign	Het
Herc2	G	C	7: 55,813,659 (GRCm39)		probably null	Het
Hycc1	T	C	5: 24,184,572 (GRCm39)	Q302R	possibly damaging	Het
Ins2	T	A	7: 142,233,185 (GRCm39)	H29L	probably damaging	Het
Ipo13	T	A	4: 117,762,778 (GRCm39)	Y275F	probably benign	Het
Kcnj15	T	A	16: 95,096,483 (GRCm39)	M35K	probably benign	Het
Kif21b	G	A	1: 136,076,421 (GRCm39)	V321M	probably damaging	Het
Lcmt1	T	A	7: 123,029,375 (GRCm39)	Y332*	probably null	Het
Malt1	A	G	18: 65,581,283 (GRCm39)	Q237R	probably benign	Het
Micall1	G	A	15: 79,005,032 (GRCm39)	C168Y	unknown	Het
Muc5ac	A	G	7: 141,360,985 (GRCm39)	K1432R	probably benign	Het
Nacad	A	G	11: 6,551,662 (GRCm39)	S510P	probably benign	Het
Nub1	T	C	5: 24,897,965 (GRCm39)	L117P	possibly damaging	Het
Or10al3	T	C	17: 38,012,434 (GRCm39)	L291P	probably damaging	Het
Or5af1	A	G	11: 58,722,852 (GRCm39)	R291G	probably damaging	Het
Or8g24	A	T	9: 38,989,271 (GRCm39)	F257I	possibly damaging	Het
Pkdrej	T	C	15: 85,705,268 (GRCm39)	K223E	probably benign	Het
Prkdc	T	A	16: 15,657,044 (GRCm39)	Y4046*	probably null	Het
Prpf8	A	G	11: 75,394,257 (GRCm39)	N1767D	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
R3hdm2	G	T	10: 127,280,182 (GRCm39)	M18I	unknown	Het
Rab35	C	A	5: 115,778,224 (GRCm39)	D63E	probably damaging	Het
Ribc2	T	A	15: 85,027,568 (GRCm39)	Y350N	probably benign	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Slc38a4	T	C	15: 96,896,332 (GRCm39)	K512E	probably damaging	Het
Stk35	G	A	2: 129,642,605 (GRCm39)	V49I	probably benign	Het
Tango6	A	G	8: 107,576,911 (GRCm39)	E1055G	probably damaging	Het
Tas2r140	A	G	6: 40,469,036 (GRCm39)	I289V	probably benign	Het
Thoc2l	T	C	5: 104,667,101 (GRCm39)	V541A	probably benign	Het
Tll2	C	T	19: 41,119,084 (GRCm39)	V215M	probably damaging	Het
Tmem30a	A	T	9: 79,687,874 (GRCm39)	N98K	probably benign	Het
Trav9n-4	C	A	14: 53,532,290 (GRCm39)	A48E	probably benign	Het
Vinac1	A	T	2: 128,880,499 (GRCm39)	S476T		Het
Vmn1r192	A	G	13: 22,372,010 (GRCm39)	F70S	probably damaging	Het
Wdr89	A	G	12: 75,680,026 (GRCm39)	V76A	probably damaging	Het
Zfp229	A	T	17: 21,965,275 (GRCm39)	T502S	probably damaging	Het

Other mutations in Sec63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Sec63	APN	10	42,688,453 (GRCm39)	missense	possibly damaging	0.56
IGL02111:Sec63	APN	10	42,686,884 (GRCm39)	missense	probably damaging	1.00
IGL02457:Sec63	APN	10	42,677,729 (GRCm39)	splice site	probably benign
IGL02613:Sec63	APN	10	42,677,703 (GRCm39)	missense	probably damaging	1.00
IGL03002:Sec63	APN	10	42,686,905 (GRCm39)	missense	possibly damaging	0.51
IGL03493:Sec63	APN	10	42,704,937 (GRCm39)	missense	probably benign	0.06
cyst	UTSW	10	42,704,861 (GRCm39)	splice site	probably null
stillwater	UTSW	10	42,679,901 (GRCm39)	missense	probably damaging	1.00
R0233:Sec63	UTSW	10	42,699,904 (GRCm39)	missense	possibly damaging	0.48
R0233:Sec63	UTSW	10	42,699,904 (GRCm39)	missense	possibly damaging	0.48
R0234:Sec63	UTSW	10	42,674,794 (GRCm39)	missense	probably damaging	0.98
R0234:Sec63	UTSW	10	42,674,794 (GRCm39)	missense	probably damaging	0.98
R0538:Sec63	UTSW	10	42,674,795 (GRCm39)	missense	probably benign	0.01
R0734:Sec63	UTSW	10	42,672,204 (GRCm39)	missense	probably benign	0.08
R0906:Sec63	UTSW	10	42,677,924 (GRCm39)	missense	probably damaging	0.98
R1136:Sec63	UTSW	10	42,682,542 (GRCm39)	missense	probably damaging	1.00
R1665:Sec63	UTSW	10	42,674,724 (GRCm39)	splice site	probably null
R1736:Sec63	UTSW	10	42,703,914 (GRCm39)	nonsense	probably null
R1961:Sec63	UTSW	10	42,699,882 (GRCm39)	missense	probably damaging	1.00
R2696:Sec63	UTSW	10	42,659,522 (GRCm39)	missense	probably benign	0.05
R4886:Sec63	UTSW	10	42,665,389 (GRCm39)	nonsense	probably null
R4908:Sec63	UTSW	10	42,681,186 (GRCm39)	missense	probably damaging	0.99
R5174:Sec63	UTSW	10	42,705,077 (GRCm39)	utr 3 prime	probably benign
R5619:Sec63	UTSW	10	42,665,378 (GRCm39)	missense	probably damaging	1.00
R5766:Sec63	UTSW	10	42,677,677 (GRCm39)	missense	probably damaging	0.99
R5820:Sec63	UTSW	10	42,672,241 (GRCm39)	missense	possibly damaging	0.49
R6232:Sec63	UTSW	10	42,704,861 (GRCm39)	splice site	probably null
R6656:Sec63	UTSW	10	42,692,379 (GRCm39)	nonsense	probably null
R6847:Sec63	UTSW	10	42,667,249 (GRCm39)	missense	probably damaging	1.00
R6971:Sec63	UTSW	10	42,659,438 (GRCm39)	missense	probably damaging	1.00
R8037:Sec63	UTSW	10	42,659,483 (GRCm39)	missense	probably benign	0.00
R8529:Sec63	UTSW	10	42,665,379 (GRCm39)	missense	probably damaging	1.00
R8756:Sec63	UTSW	10	42,686,905 (GRCm39)	missense	possibly damaging	0.51
R9259:Sec63	UTSW	10	42,699,937 (GRCm39)	missense	probably benign	0.11
R9391:Sec63	UTSW	10	42,681,101 (GRCm39)	missense	probably benign	0.01
R9419:Sec63	UTSW	10	42,679,901 (GRCm39)	missense	probably damaging	1.00
RF010:Sec63	UTSW	10	42,682,620 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCTGAATGTAGAGTTGCAGC -3'
(R):5'- TTTGCATCCGTTTCTAGTAAAGTCG -3'

Sequencing Primer
(F):5'- GAGTTGCAGCTACAAAGTTCACTCTC -3'
(R):5'- CCGTTTCTAGTAAAGTCGGCAAC -3'

Posted On

2022-11-14