Mutagenetix > Incidental Mutation

Incidental Mutation 'R6232:Sec63'

504692

Institutional Source

Beutler Lab

Gene Symbol

Sec63

Ensembl Gene

ENSMUSG00000019802

Gene Name

SEC63 homolog, protein translocation regulator

Synonyms

5730478J10Rik

MMRRC Submission

044360-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

42637492-42708510 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 42704861 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: ENSMUST00000105496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155410

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

94% (64/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,933 (GRCm39)	V198A	possibly damaging	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgra2	A	T	8: 27,609,193 (GRCm39)	M805L	probably benign	Het
Arhgap39	T	C	15: 76,620,712 (GRCm39)	S630G	probably damaging	Het
Bcl3	T	A	7: 19,546,409 (GRCm39)	N142I	probably damaging	Het
Cfap210	C	T	2: 69,602,398 (GRCm39)	E338K	possibly damaging	Het
Chuk	A	T	19: 44,085,431 (GRCm39)	D238E	probably benign	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Cyp2j8	A	T	4: 96,395,427 (GRCm39)	L66Q	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dst	T	A	1: 34,227,253 (GRCm39)	D1290E	probably damaging	Het
Dysf	T	C	6: 84,075,235 (GRCm39)	I583T	probably benign	Het
Eif1ad13	A	T	12: 87,762,351 (GRCm39)	R24*	probably null	Het
Fbxl2	T	A	9: 113,815,516 (GRCm39)	D249V	probably damaging	Het
Fbxo30	A	T	10: 11,165,602 (GRCm39)	Y108F	possibly damaging	Het
Fibin	G	T	2: 110,193,041 (GRCm39)	H34N	probably damaging	Het
Gabrr1	A	G	4: 33,161,632 (GRCm39)	I319V	probably benign	Het
Gfm1	G	T	3: 67,375,215 (GRCm39)	L559F	possibly damaging	Het
Gm5134	T	A	10: 75,821,859 (GRCm39)	L231Q	possibly damaging	Het
Grm5	A	G	7: 87,251,638 (GRCm39)		probably benign	Het
Hbs1l	T	A	10: 21,183,657 (GRCm39)		probably null	Het
Hsf5	C	G	11: 87,508,120 (GRCm39)	T8S	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Inpp4b	A	G	8: 82,678,813 (GRCm39)	Q281R	probably damaging	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Ldlrap1	C	T	4: 134,486,345 (GRCm39)	R38Q	possibly damaging	Het
Lepr	A	G	4: 101,671,588 (GRCm39)		probably null	Het
Map3k12	A	G	15: 102,412,081 (GRCm39)	S328P	probably damaging	Het
Mrpl2	T	C	17: 46,958,356 (GRCm39)	V46A	probably benign	Het
Muc16	A	T	9: 18,568,294 (GRCm39)	N1408K	unknown	Het
Myh7	T	A	14: 55,226,753 (GRCm39)	Q366L	probably benign	Het
Nbeal2	A	G	9: 110,467,802 (GRCm39)	V462A	probably damaging	Het
Nradd	G	T	9: 110,450,655 (GRCm39)	T174N	probably damaging	Het
Nup155	T	C	15: 8,138,963 (GRCm39)	S12P	probably benign	Het
Obscn	C	A	11: 58,943,337 (GRCm39)	E4832*	probably null	Het
Opn3	G	A	1: 175,490,669 (GRCm39)	R331W	probably damaging	Het
Or2ag15	A	T	7: 106,340,761 (GRCm39)	C127S	probably damaging	Het
Or2w3	T	A	11: 58,556,757 (GRCm39)	V124E	possibly damaging	Het
Or4a66	G	T	2: 88,531,161 (GRCm39)	H171N	probably benign	Het
Or52ae9	T	A	7: 103,389,661 (GRCm39)	H262L	probably damaging	Het
Or5b120	G	A	19: 13,480,427 (GRCm39)	C240Y	probably damaging	Het
Or6b2	T	C	1: 92,408,305 (GRCm39)	I13V	probably benign	Het
Phip	A	G	9: 82,785,234 (GRCm39)	V827A	probably benign	Het
Phldb1	G	A	9: 44,607,414 (GRCm39)	R1264W	probably damaging	Het
Pibf1	T	G	14: 99,424,014 (GRCm39)	I529S	probably benign	Het
Pkp1	T	A	1: 135,814,599 (GRCm39)	I241F	probably benign	Het
Pla2g4f	G	T	2: 120,132,702 (GRCm39)	D711E	possibly damaging	Het
Pold1	A	G	7: 44,190,266 (GRCm39)		probably null	Het
Pold2	T	C	11: 5,823,691 (GRCm39)	S287G	probably benign	Het
Prg4	T	C	1: 150,331,567 (GRCm39)		probably benign	Het
Prl8a1	T	C	13: 27,759,557 (GRCm39)	E160G	possibly damaging	Het
Rfc4	C	T	16: 22,932,840 (GRCm39)		probably benign	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph14	G	A	10: 74,797,520 (GRCm39)	R156W	probably benign	Het
Sec61a1	T	C	6: 88,482,150 (GRCm39)	Y457C	probably benign	Het
Spen	T	C	4: 141,244,333 (GRCm39)	E234G	unknown	Het
Sphkap	T	A	1: 83,258,200 (GRCm39)	E181V	probably damaging	Het
Stau2	C	T	1: 16,445,035 (GRCm39)	A298T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 56,990,796 (GRCm39)	I661V	probably benign	Het
Thoc6	A	C	17: 23,889,295 (GRCm39)		probably null	Het
Trpv1	T	A	11: 73,141,636 (GRCm39)	M553K	possibly damaging	Het
Ttn	T	C	2: 76,641,579 (GRCm39)	I11760V	probably benign	Het
Vmn1r61	G	A	7: 5,613,850 (GRCm39)	H155Y	probably damaging	Het
Vmn2r41	A	G	7: 8,153,214 (GRCm39)		probably null	Het
Vmn2r74	A	G	7: 85,607,498 (GRCm39)	I75T	possibly damaging	Het
Wwp2	C	A	8: 108,232,977 (GRCm39)	T205K	probably benign	Het
Zfp1003	A	T	2: 177,546,195 (GRCm39)	T40S	probably benign	Het
Zfp747	C	T	7: 126,973,306 (GRCm39)	G288D	probably damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	Het
Zfp953	G	A	13: 67,491,161 (GRCm39)	L264F	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
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
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

PCR Primer
(F):5'- TGCTTGAACTTCCACAGAGTC -3'
(R):5'- TGTAGTCCACTCACTCGGGTTAG -3'

Sequencing Primer
(F):5'- GCTTGAACTTCCACAGAGTCAAAATG -3'
(R):5'- ACTCGGGTTAGTCTCCACC -3'

Posted On

2018-02-28