Mutagenetix > Incidental Mutation

Incidental Mutation 'R1665:Sec63'

261736

Institutional Source

Beutler Lab

Gene Symbol

Sec63

Ensembl Gene

ENSMUSG00000019802

Gene Name

SEC63 homolog, protein translocation regulator

Synonyms

5730478J10Rik

MMRRC Submission

039701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42637492-42708510 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 42674724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019937 (fasta)

Gene Model

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

AlphaFold

Q8VHE0

Predicted Effect

probably null
Transcript: ENSMUST00000019937

SMART Domains

Protein: ENSMUSP00000019937
Gene: ENSMUSG00000019802

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144228

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155410

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

100% (87/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,596,816 (GRCm39)	G423E	probably damaging	Het
Acox3	A	T	5: 35,760,371 (GRCm39)	H429L	probably damaging	Het
Afg1l	T	A	10: 42,302,573 (GRCm39)	K142N	probably damaging	Het
Aldh1a7	T	C	19: 20,704,825 (GRCm39)	I18V	probably benign	Het
Angel2	T	C	1: 190,669,664 (GRCm39)	Y115H	probably damaging	Het
Bsg	T	G	10: 79,547,352 (GRCm39)	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,228,072 (GRCm39)	V83E	probably benign	Het
Caml	C	A	13: 55,779,784 (GRCm39)	L286I	probably benign	Het
Ccdc125	A	G	13: 100,830,081 (GRCm39)	I284V	probably benign	Het
Ces2a	G	A	8: 105,464,187 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,877,239 (GRCm39)		probably null	Het
Creg2	C	T	1: 39,662,372 (GRCm39)	W253*	probably null	Het
Csmd3	T	C	15: 47,560,185 (GRCm39)	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,982 (GRCm39)	I292K	probably benign	Het
Dab2ip	T	A	2: 35,610,290 (GRCm39)	M770K	probably damaging	Het
Dct	T	A	14: 118,271,663 (GRCm39)	D389V	probably damaging	Het
Dnah17	A	T	11: 118,012,321 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,101,761 (GRCm39)	E1921G	probably benign	Het
Efcab3	A	G	11: 104,611,940 (GRCm39)	K594R	probably benign	Het
Ehmt1	A	G	2: 24,767,476 (GRCm39)	S272P	probably damaging	Het
Ero1b	T	C	13: 12,594,142 (GRCm39)		probably null	Het
Fnip2	A	G	3: 79,422,456 (GRCm39)	F108S	probably benign	Het
Foxb1	G	A	9: 69,667,104 (GRCm39)	A142V	probably damaging	Het
Fras1	A	T	5: 96,746,768 (GRCm39)	S613C	probably damaging	Het
Gm7276	C	A	18: 77,273,266 (GRCm39)		probably benign	Het
Gnb4	A	C	3: 32,644,188 (GRCm39)	L152*	probably null	Het
H1f7	G	T	15: 98,154,796 (GRCm39)	Q118K	probably benign	Het
Hdac7	A	G	15: 97,704,406 (GRCm39)	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,293,282 (GRCm39)	E274K	probably benign	Het
Htr4	T	C	18: 62,545,305 (GRCm39)	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,577,973 (GRCm39)	Y512F	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Klhl22	C	A	16: 17,594,352 (GRCm39)	D160E	probably benign	Het
Kpna6	T	A	4: 129,551,264 (GRCm39)	R80S	probably benign	Het
Lclat1	A	G	17: 73,494,999 (GRCm39)	E142G	probably damaging	Het
Lrig3	T	C	10: 125,833,570 (GRCm39)	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1b	T	A	13: 99,568,437 (GRCm39)	N1428I	unknown	Het
Map3k19	T	A	1: 127,745,393 (GRCm39)	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,887,813 (GRCm39)	W1696R	probably damaging	Het
Mfn1	T	G	3: 32,588,471 (GRCm39)	V66G	probably benign	Het
Mllt10	A	T	2: 18,213,601 (GRCm39)	Q459L	possibly damaging	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Muc15	C	T	2: 110,564,243 (GRCm39)	Q260*	probably null	Het
Nfkb1	T	C	3: 135,300,718 (GRCm39)	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,024,045 (GRCm39)	W417R	probably damaging	Het
Or10a2	T	C	7: 106,673,481 (GRCm39)	S149P	probably damaging	Het
Or13a26	G	T	7: 140,284,707 (GRCm39)	C181F	probably damaging	Het
Or4g16	T	C	2: 111,137,116 (GRCm39)	C189R	probably damaging	Het
Or4k39	T	C	2: 111,239,098 (GRCm39)	Y113H	probably damaging	Het
Or5b121	A	T	19: 13,507,202 (GRCm39)	H99L	probably damaging	Het
Or8c10	C	T	9: 38,278,862 (GRCm39)	H7Y	probably benign	Het
Pde10a	A	G	17: 9,117,702 (GRCm39)	D26G	probably damaging	Het
Pi15	G	T	1: 17,691,726 (GRCm39)	C176F	probably damaging	Het
Pou2f2	T	A	7: 24,792,149 (GRCm39)	T569S	possibly damaging	Het
Prf1	A	C	10: 61,138,666 (GRCm39)	E208A	probably benign	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Rc3h1	T	A	1: 160,786,993 (GRCm39)	V796E	probably benign	Het
Rgl1	T	C	1: 152,409,326 (GRCm39)	Y503C	probably damaging	Het
Ripk3	T	A	14: 56,023,808 (GRCm39)	H1L	probably benign	Het
Ryr1	C	T	7: 28,735,503 (GRCm39)	D4064N	probably damaging	Het
Slco1a4	T	G	6: 141,785,303 (GRCm39)	M96L	possibly damaging	Het
Slit3	A	T	11: 35,125,733 (GRCm39)	R137S	possibly damaging	Het
Smad1	T	C	8: 80,098,658 (GRCm39)	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,328,476 (GRCm39)	W201R	probably damaging	Het
Steap1	A	T	5: 5,786,498 (GRCm39)	L313Q	probably damaging	Het
Syt2	C	A	1: 134,675,358 (GRCm39)	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,713,897 (GRCm39)	S225R	probably benign	Het
Thap3	C	T	4: 152,070,161 (GRCm39)	V78M	probably damaging	Het
Thoc5	A	G	11: 4,869,792 (GRCm39)	K446R	probably benign	Het
Timmdc1	A	C	16: 38,331,079 (GRCm39)		probably null	Het
Tm6sf2	G	T	8: 70,531,580 (GRCm39)		probably benign	Het
Tmem126b	G	T	7: 90,125,179 (GRCm39)	A2E	probably damaging	Het
Trim9	T	A	12: 70,301,887 (GRCm39)	R584W	probably damaging	Het
Ttn	C	A	2: 76,661,200 (GRCm39)		probably benign	Het
Vmn1r25	A	T	6: 57,955,446 (GRCm39)	I281N	probably damaging	Het
Wdr59	A	G	8: 112,205,994 (GRCm39)	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,163,505 (GRCm39)	M575V	unknown	Het
Zfp53	A	G	17: 21,729,766 (GRCm39)	T600A	probably damaging	Het
Zic5	A	G	14: 122,696,939 (GRCm39)	S559P	unknown	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
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
R9760:Sec63	UTSW	10	42,704,944 (GRCm39)	missense	probably benign	0.00
RF010:Sec63	UTSW	10	42,682,620 (GRCm39)	missense	probably benign	0.04

Predicted Primers

Posted On

2015-01-28