Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02457:Sec63'

294465

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec63

Ensembl Gene

ENSMUSG00000019802

Gene Name

SEC63 homolog, protein translocation regulator

Synonyms

5730478J10Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02457

Quality Score

Status

Chromosome

Chromosomal Location

42637492-42708510 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 42677729 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 benign
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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,136,127 (GRCm39)	D343G	probably benign	Het
Acot10	T	C	15: 20,666,229 (GRCm39)	S171G	possibly damaging	Het
Actr3b	T	C	5: 26,054,160 (GRCm39)		probably null	Het
Adamts17	T	C	7: 66,677,562 (GRCm39)	M492T	probably damaging	Het
Akap4	A	C	X: 6,943,707 (GRCm39)	N670T	probably benign	Het
Atrip	A	G	9: 108,894,299 (GRCm39)	S55P	possibly damaging	Het
Bend3	A	T	10: 43,385,946 (GRCm39)	E113V	probably damaging	Het
Ccdc158	A	C	5: 92,797,907 (GRCm39)	I411S	probably damaging	Het
Cfap97	G	T	8: 46,623,315 (GRCm39)	C235F	possibly damaging	Het
Chil4	T	C	3: 106,121,715 (GRCm39)	N45D	probably benign	Het
Cripto	C	T	9: 110,771,691 (GRCm39)	C32Y	probably damaging	Het
D430041D05Rik	A	G	2: 104,079,690 (GRCm39)	V1131A	probably damaging	Het
Defb38	T	C	8: 19,076,552 (GRCm39)		probably benign	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Ecsit	A	G	9: 21,989,500 (GRCm39)	S14P	probably damaging	Het
Eif3l	T	C	15: 78,962,296 (GRCm39)	F106L	probably benign	Het
Erich5	G	T	15: 34,470,999 (GRCm39)	G76V	probably damaging	Het
Evpl	A	G	11: 116,120,939 (GRCm39)	L432P	possibly damaging	Het
Fbxw10	T	C	11: 62,765,808 (GRCm39)	F698L	probably damaging	Het
Frem2	A	T	3: 53,428,470 (GRCm39)	S2866T	probably damaging	Het
Fuca1	G	A	4: 135,662,073 (GRCm39)	V334I	probably benign	Het
Hprt1	T	A	X: 52,091,010 (GRCm39)	H60Q	probably benign	Het
Kirrel2	T	C	7: 30,152,165 (GRCm39)	N481S	probably damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Lilrb4b	T	A	10: 51,357,334 (GRCm39)	Y57N	probably benign	Het
Lix1l	A	G	3: 96,521,792 (GRCm39)	Y126C	probably damaging	Het
Lox	T	C	18: 52,654,388 (GRCm39)	D347G	probably damaging	Het
Mak16	C	T	8: 31,654,753 (GRCm39)	R147Q	possibly damaging	Het
Ndst2	G	A	14: 20,779,622 (GRCm39)	A206V	possibly damaging	Het
Or1ak2	A	T	2: 36,827,760 (GRCm39)	I210F	probably damaging	Het
Or2q1	T	A	6: 42,795,176 (GRCm39)	I257N	probably damaging	Het
Phldb1	T	C	9: 44,627,771 (GRCm39)	M225V	probably benign	Het
Pofut1	C	T	2: 153,090,516 (GRCm39)	Q137*	probably null	Het
Polr2a	T	C	11: 69,634,076 (GRCm39)		probably benign	Het
Prdm5	T	A	6: 65,858,100 (GRCm39)	L388Q	probably damaging	Het
Rad51c	A	G	11: 87,271,681 (GRCm39)	S344P	possibly damaging	Het
Scart1	G	A	7: 139,800,308 (GRCm39)	G30S	probably benign	Het
Sdk1	C	T	5: 141,938,771 (GRCm39)	P398L	probably damaging	Het
Sgo1	A	T	17: 53,983,989 (GRCm39)	L463Q	probably damaging	Het
Slc5a6	A	G	5: 31,198,002 (GRCm39)	L291P	probably damaging	Het
Smarcb1	T	C	10: 75,757,205 (GRCm39)	T9A	probably benign	Het
Sp3	A	G	2: 72,801,813 (GRCm39)	W67R	probably damaging	Het
Ssxb9	A	C	X: 21,041,234 (GRCm39)	S23A	probably benign	Het
Syne1	A	G	10: 5,292,167 (GRCm39)	L1367S	probably damaging	Het
Tbc1d23	T	A	16: 56,990,754 (GRCm39)	I690F	probably damaging	Het
Tmed5	A	T	5: 108,272,416 (GRCm39)	S227R	probably benign	Het
Tnrc6c	T	A	11: 117,613,803 (GRCm39)	S814T	probably benign	Het
Trbv2	C	T	6: 41,024,905 (GRCm39)	T107I	probably benign	Het
Trpm6	T	C	19: 18,803,155 (GRCm39)	V866A	probably damaging	Het
Trpm6	A	T	19: 18,804,762 (GRCm39)	K905*	probably null	Het
Ttn	A	G	2: 76,539,654 (GRCm39)	V34444A	probably benign	Het
Vmn1r86	C	T	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Vmn2r17	A	C	5: 109,601,012 (GRCm39)	D770A	probably damaging	Het
Wnk4	T	C	11: 101,160,389 (GRCm39)		probably benign	Het
Xaf1	T	C	11: 72,194,257 (GRCm39)	M46T	possibly 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
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
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

Posted On

2015-04-16