Mutagenetix > Incidental Mutations

Incidental Mutation 'R5619:Sec63'

439721

Institutional Source

Beutler Lab

Gene Symbol

Sec63

Ensembl Gene

ENSMUSG00000019802

Gene Name

SEC63-like (S. cerevisiae)

Synonyms

MMRRC Submission

043278-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42761496-42832514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42789382 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 103 (Y103N)

Ref Sequence

ENSEMBL: ENSMUSP00000019937 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019937
AA Change: Y103N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019937
Gene: ENSMUSG00000019802
AA Change: Y103N

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

Meta Mutation Damage Score

0.5463

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.7%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4931423N10Rik	T	C	2: 23,257,005		probably null	Het
Adgre1	T	G	17: 57,420,437	L456V	probably benign	Het
Adgrv1	C	T	13: 81,472,500	G3943R	probably damaging	Het
Akap9	A	G	5: 3,954,760		probably benign	Het
Atp1a2	T	A	1: 172,279,381	I791F	probably damaging	Het
BC003965	G	A	17: 25,184,989	S101N	probably damaging	Het
BC004004	C	G	17: 29,282,729	P81A	probably damaging	Het
Brca2	C	A	5: 150,557,114	T2755K	probably damaging	Het
Cacna1c	T	C	6: 118,742,361	D215G	probably damaging	Het
Ccdc142	C	T	6: 83,103,622	S445F	probably benign	Het
Comt	T	C	16: 18,411,719	E80G	probably damaging	Het
Coq7	T	C	7: 118,527,486		probably benign	Het
Coro7	C	A	16: 4,676,935		probably null	Het
Cyp2c40	A	G	19: 39,803,784	S239P	probably damaging	Het
Dnah5	T	C	15: 28,302,435	S1613P	probably damaging	Het
Dync2h1	T	C	9: 7,118,885	I2193M	probably benign	Het
Eipr1	A	G	12: 28,867,079	Y382C	probably damaging	Het
Fastkd2	T	A	1: 63,739,310	H447Q	probably benign	Het
Galk2	A	T	2: 125,975,397	R369*	probably null	Het
Gli2	G	A	1: 118,836,755	A1222V	probably benign	Het
Golim4	T	A	3: 75,906,495	K141*	probably null	Het
Gtpbp3	G	T	8: 71,491,048		probably benign	Het
Gzmd	C	T	14: 56,129,767	A223T	probably benign	Het
Igf2r	T	C	17: 12,739,334	R151G	probably damaging	Het
Itga8	T	A	2: 12,265,328	R116W	probably damaging	Het
Klhdc1	T	G	12: 69,258,145		probably null	Het
Klhl25	T	C	7: 75,866,854	Y198H	probably benign	Het
Klhl29	A	T	12: 5,140,587	M136K	probably benign	Het
Lipf	A	T	19: 33,966,892	Y167F	possibly damaging	Het
Lpar1	T	C	4: 58,487,155	K39E	possibly damaging	Het
Mbtd1	T	A	11: 93,929,879		probably null	Het
Myo1a	T	A	10: 127,718,544	N794K	probably benign	Het
Nmrk1	T	C	19: 18,645,088	L177P	possibly damaging	Het
Noxa1	C	T	2: 25,085,976	E401K	probably damaging	Het
Olfr1276	A	T	2: 111,257,511	Y132F	probably damaging	Het
Olfr980	T	A	9: 40,006,743	M69L	probably benign	Het
Ostm1	T	A	10: 42,679,329	C116S	probably damaging	Het
Pcdhga7	T	C	18: 37,715,747	I269T	probably benign	Het
Pfkfb3	T	C	2: 11,484,659	K276R	probably benign	Het
Pfkp	A	T	13: 6,598,729		probably benign	Het
Pitpnm1	A	G	19: 4,103,270	D142G	probably damaging	Het
Pkp3	T	C	7: 141,088,506	L556P	probably damaging	Het
Plb1	C	A	5: 32,333,497	T1046N	probably damaging	Het
Plxnb2	T	C	15: 89,162,809	S770G	possibly damaging	Het
Polk	A	T	13: 96,483,556	I733N	probably damaging	Het
Prkg2	C	A	5: 98,988,297	C301F	probably damaging	Het
Rabgap1l	T	C	1: 160,238,572	T189A	probably benign	Het
Raph1	T	C	1: 60,490,255		probably benign	Het
Rbm22	T	A	18: 60,560,827	M1K	probably null	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf186	T	A	4: 138,967,404	I85N	probably benign	Het
Ryr2	C	A	13: 11,708,202	R2517L	probably damaging	Het
Serpinb3a	G	A	1: 107,047,108	P232S	probably damaging	Het
Slco6d1	C	A	1: 98,496,222	T533K	probably damaging	Het
Smarcad1	T	A	6: 65,111,881	D1000E	probably benign	Het
Spata46	A	T	1: 170,308,921	I14F	probably damaging	Het
Speer4b	T	C	5: 27,498,817	H106R	possibly damaging	Het
Spint4	T	C	2: 164,700,841	L118P	probably benign	Het
Sptbn5	A	G	2: 120,050,132		noncoding transcript	Het
Tgfbr3	A	T	5: 107,140,514	I427N	probably benign	Het
Thbs2	C	A	17: 14,681,244	C491F	probably damaging	Het
Tmem232	T	A	17: 65,486,511	E64D	probably benign	Het
Tnpo3	A	T	6: 29,565,198	C585*	probably null	Het
Ttc13	A	T	8: 124,679,944		probably benign	Het
Tuba8	C	T	6: 121,225,895	A389V	probably damaging	Het
Usp25	A	G	16: 77,033,945	I30V	probably benign	Het
Vmn2r31	T	A	7: 7,384,530	K681*	probably null	Het
Vmn2r88	A	G	14: 51,413,910	E235G	probably damaging	Het
Vps29	T	A	5: 122,354,448		probably benign	Het
Wdr1	A	C	5: 38,529,536	V568G	possibly damaging	Het
Zfp64	T	G	2: 168,899,814	Q398P	probably damaging	Het
Zfp64	G	T	2: 168,899,815	Q398K	probably damaging	Het
Zfp839	T	C	12: 110,864,036	Y398H	probably damaging	Het

Other mutations in Sec63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:Sec63	APN	10	42812457	missense	possibly damaging	0.56
IGL02111:Sec63	APN	10	42810888	missense	probably damaging	1.00
IGL02457:Sec63	APN	10	42801733	splice site	probably benign
IGL02613:Sec63	APN	10	42801707	missense	probably damaging	1.00
IGL03002:Sec63	APN	10	42810909	missense	possibly damaging	0.51
IGL03493:Sec63	APN	10	42828941	missense	probably benign	0.06
cyst	UTSW	10	42828865	splice site	probably null
R0233:Sec63	UTSW	10	42823908	missense	possibly damaging	0.48
R0233:Sec63	UTSW	10	42823908	missense	possibly damaging	0.48
R0234:Sec63	UTSW	10	42798798	missense	probably damaging	0.98
R0234:Sec63	UTSW	10	42798798	missense	probably damaging	0.98
R0538:Sec63	UTSW	10	42798799	missense	probably benign	0.01
R0734:Sec63	UTSW	10	42796208	missense	probably benign	0.08
R0906:Sec63	UTSW	10	42801928	missense	probably damaging	0.98
R1136:Sec63	UTSW	10	42806546	missense	probably damaging	1.00
R1665:Sec63	UTSW	10	42798728	splice site	probably null
R1736:Sec63	UTSW	10	42827918	nonsense	probably null
R1961:Sec63	UTSW	10	42823886	missense	probably damaging	1.00
R2696:Sec63	UTSW	10	42783526	missense	probably benign	0.05
R4886:Sec63	UTSW	10	42789393	nonsense	probably null
R4908:Sec63	UTSW	10	42805190	missense	probably damaging	0.99
R5174:Sec63	UTSW	10	42829081	utr 3 prime	probably benign
R5766:Sec63	UTSW	10	42801681	missense	probably damaging	0.99
R5820:Sec63	UTSW	10	42796245	missense	possibly damaging	0.49
R6232:Sec63	UTSW	10	42828865	splice site	probably null
R6656:Sec63	UTSW	10	42816383	nonsense	probably null
R6847:Sec63	UTSW	10	42791253	missense	probably damaging	1.00
R6971:Sec63	UTSW	10	42783442	missense	probably damaging	1.00
R8037:Sec63	UTSW	10	42783487	missense	probably benign	0.00
R8529:Sec63	UTSW	10	42789383	missense	probably damaging	1.00
RF010:Sec63	UTSW	10	42806624	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AAACTGTTCTAGTCCTTAGCTTGC -3'
(R):5'- ACAGTTTCTTACAGGAACCCC -3'

Sequencing Primer
(F):5'- CTAGTCCTTAGCTTGCAGAGAGC -3'
(R):5'- ATTAGGCAGCTTCTAACCACCTG -3'

Posted On

2016-11-08