Mutagenetix > Incidental Mutation

Incidental Mutation 'RF010:Sec63'

603138

Institutional Source

Beutler Lab

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 #

RF010 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42637492-42708510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42682620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 437 (A437E)

Ref Sequence

ENSEMBL: ENSMUSP00000019937 (fasta)

Gene Model

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

AlphaFold

Q8VHE0

Predicted Effect

probably benign
Transcript: ENSMUST00000019937
AA Change: A437E

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000019937
Gene: ENSMUSG00000019802
AA Change: A437E

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	GGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	GGGTTATGGTCAGTACCCCCCAGTAGGGCCCTGGGGCGGTTATGGTCAGTACCCCCCAGTAGGGACCTGGGG	17: 35,879,473 (GRCm39)		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Ankrd28	A	G	14: 31,500,943 (GRCm39)	I16T	probably damaging	Het
AY761185	GCACTGTGGGC	G	8: 21,433,927 (GRCm39)		probably null	Het
Bend3	T	A	10: 43,386,180 (GRCm39)	F191Y	possibly damaging	Het
Calhm1	GTGGC	GTGGCTGTGGCTATGGC	19: 47,129,712 (GRCm39)		probably benign	Het
Camkv	CGCTGCTGC	CGC	9: 107,825,059 (GRCm39)		probably benign	Het
Cfap251	TCTCA	T	5: 123,412,224 (GRCm39)		probably benign	Het
Chga	GCA	GCATCA	12: 102,527,662 (GRCm39)		probably benign	Het
Cngb1	CTCTGGCTCTGGCTCTGGCTCTG	C	8: 96,030,278 (GRCm39)		probably null	Het
Cnot3	T	C	7: 3,659,068 (GRCm39)	V438A	probably benign	Het
Cntnap5c	T	A	17: 58,593,790 (GRCm39)	W710R	probably damaging	Het
Dyrk1a	A	G	16: 94,478,422 (GRCm39)	S404G	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,075 (GRCm39)		probably benign	Het
Flywch1	GTGT	GTGTGGGGAGGCTACGTACTCACCCACACCTGTTGT	17: 23,981,149 (GRCm39)		probably null	Het
Fmn2	T	A	1: 174,409,581 (GRCm39)	S605T	unknown	Het
Gab3	TCT	TCTGCT	X: 74,043,617 (GRCm39)		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 71,313,666 (GRCm39)		probably benign	Het
Gli3	A	G	13: 15,900,954 (GRCm39)	Y1447C	probably damaging	Het
Hibch	T	C	1: 52,952,891 (GRCm39)	V297A	probably benign	Het
Ifi213	C	G	1: 173,409,719 (GRCm39)	D462H	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Lce1m	GCTGCTGCC	GCTGCTGCCCCCACTGCTGCC	3: 92,925,597 (GRCm39)		probably benign	Het
Lpo	A	G	11: 87,711,928 (GRCm39)	V43A	probably benign	Het
Map1a	A	AGCTCCAGCTCCAGCCCCACCTCCAGCTCCC	2: 121,136,799 (GRCm39)		probably benign	Het
Mapk9	A	G	11: 49,745,083 (GRCm39)		probably benign	Het
Mep1a	G	A	17: 43,797,126 (GRCm39)	H314Y	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myh3	AC	ACTTCC	11: 66,977,185 (GRCm39)		probably null	Het
Nusap1	ACGTTAGCAGTGAGGAGCAA	ACGTTAGCAGTGAGGAGCAAACTGAGATACTCGTTAGCAGTGAGGAGCAA	2: 119,458,065 (GRCm39)		probably benign	Het
Or10ag56	T	A	2: 87,139,184 (GRCm39)	V37E	possibly damaging	Het
Or14a259	T	C	7: 86,012,594 (GRCm39)	Q317R	probably benign	Het
Pdcd11	AGGAGG	A	19: 47,101,890 (GRCm39)		probably null	Het
Pfkm	T	A	15: 98,027,674 (GRCm39)	I651N	possibly damaging	Het
Phldb3	CCCCCGCCCC	CCCCC	7: 24,325,920 (GRCm39)		probably null	Het
Polr1has	CACCACCAC	CACCACCACCACCACCACCACTACCACCAC	17: 37,275,955 (GRCm39)		probably benign	Het
Prkce	T	C	17: 86,795,627 (GRCm39)	V288A	probably damaging	Het
Pxmp4	A	G	2: 154,434,183 (GRCm39)	S93P	probably damaging	Het
Rfc4	T	C	16: 22,946,232 (GRCm39)	T17A	probably benign	Het
Rfx4	CTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCT	10: 84,694,351 (GRCm39)		probably benign	Het
Ryr3	G	T	2: 112,606,015 (GRCm39)	A2415E	probably damaging	Het
Sbp	ACAAAGATGCTGACAACAAAGATGCTGACA	ACAAAGATGCTGACACCAAAGATGCTGACAACAAAGATGCTGACA	17: 24,164,325 (GRCm39)		probably benign	Het
Sec24c	T	A	14: 20,738,783 (GRCm39)		probably null	Het
Six3	GCG	GCGTCG	17: 85,928,783 (GRCm39)		probably benign	Het
Slco5a1	G	A	1: 12,942,171 (GRCm39)	T825I	probably damaging	Het
Spmap2l	CAG	CAGCGATCCTCCCCAGTCCCGCAAGGCGAG	5: 77,164,274 (GRCm39)		probably benign	Het
Stard8	GGA	GGAAGA	X: 98,110,123 (GRCm39)		probably benign	Het
Stxbp1	A	G	2: 32,711,927 (GRCm39)	V30A	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,083 (GRCm39)		probably benign	Het
Syne1	T	A	10: 5,196,386 (GRCm39)	D3882V	possibly damaging	Het
T	A	G	17: 8,660,540 (GRCm39)	T384A	probably benign	Het
Tbc1d12	CGGGGCGG	CG	19: 38,825,384 (GRCm39)		probably benign	Het
Tcof1	CAG	CAGAAG	18: 60,968,816 (GRCm39)		probably benign	Het
Tcstv5	A	T	13: 120,411,582 (GRCm39)	V8E	probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,032 (GRCm39)		probably benign	Het
Thumpd3	C	T	6: 113,033,006 (GRCm39)	A248V	probably damaging	Het
Tlcd4	T	A	3: 121,022,533 (GRCm39)	I103L	probably benign	Het
Tmem181a	T	C	17: 6,330,978 (GRCm39)		probably null	Het
Trim41	A	T	11: 48,698,165 (GRCm39)	H600Q	probably damaging	Het
Ttbk2	A	T	2: 120,620,820 (GRCm39)	C147*	probably null	Het
Ttll2	C	T	17: 7,618,737 (GRCm39)	A397T	probably benign	Het
Unc79	T	A	12: 103,079,046 (GRCm39)	L1737Q	probably benign	Het
Usp47	T	A	7: 111,692,145 (GRCm39)	V869E	probably damaging	Het
Vmn1r231	T	A	17: 21,110,255 (GRCm39)	Q220L	probably damaging	Het
Vmn2r26	C	T	6: 124,016,448 (GRCm39)	T304I	possibly damaging	Het
Wrn	T	C	8: 33,778,793 (GRCm39)	N839S	probably benign	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp384	GGCCCAGG	GGCCCAGGAGCACGCCCAGG	6: 125,013,451 (GRCm39)		probably benign	Het
Zfyve26	C	T	12: 79,302,112 (GRCm39)	C1828Y	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
R9760:Sec63	UTSW	10	42,704,944 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCCAGTAGTTTTCATTTGACGAAAC -3'
(R):5'- ACATTGGAGCATGCCTGAC -3'

Sequencing Primer
(F):5'- AACTATCCAGGATTTGGTTAG -3'
(R):5'- TGGAGCATGCCTGACTATATC -3'

Posted On

2019-12-04