Mutagenetix > Incidental Mutation

Incidental Mutation 'R1659:Sec61a2'

186569

Institutional Source

Beutler Lab

Gene Symbol

Sec61a2

Ensembl Gene

ENSMUSG00000025816

Gene Name

SEC61 translocon subunit alpha 2

Synonyms

MMRRC Submission

039695-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R1659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5875798-5900243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5891345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 62 (F62S)

Ref Sequence

ENSEMBL: ENSMUSP00000026926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026926] [ENSMUST00000102981] [ENSMUST00000193792]

AlphaFold

Q9JLR1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026926
AA Change: F62S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026926
Gene: ENSMUSG00000025816
AA Change: F62S

Domain	Start	End	E-Value	Type
Pfam:Plug_translocon	40	74	6.9e-24	PFAM
Pfam:SecY	75	162	1.2e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102981
AA Change: F62S

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816
AA Change: F62S

Domain	Start	End	E-Value	Type
Pfam:Plug_translocon	40	74	6.2e-21	PFAM
Pfam:SecY	75	458	1e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193792
AA Change: F62S

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816
AA Change: F62S

Domain	Start	End	E-Value	Type
Pfam:Plug_translocon	40	74	4e-22	PFAM
Pfam:SecY	75	263	5.3e-44	PFAM
Pfam:SecY	261	393	1.6e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194565

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,114,633 (GRCm39)	L87Q	probably damaging	Het
Atp13a5	T	G	16: 29,112,251 (GRCm39)	D630A	probably benign	Het
Brd7	G	T	8: 89,060,420 (GRCm39)	P568T	probably damaging	Het
Ccdc141	A	G	2: 76,885,027 (GRCm39)	L538P	probably benign	Het
Cd177	G	T	7: 24,445,562 (GRCm39)	T627K	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdhr2	T	A	13: 54,867,574 (GRCm39)	I468N	probably damaging	Het
Cdk14	T	C	5: 4,999,571 (GRCm39)	T338A	probably benign	Het
Celsr2	G	A	3: 108,321,411 (GRCm39)	T467I	probably benign	Het
Chrd	A	G	16: 20,554,581 (GRCm39)	E380G	probably damaging	Het
Cnnm4	C	A	1: 36,511,246 (GRCm39)	T158N	probably benign	Het
Ddx51	T	A	5: 110,802,986 (GRCm39)	I254N	probably damaging	Het
Deptor	G	A	15: 55,081,670 (GRCm39)		probably null	Het
Dnah11	T	A	12: 118,084,459 (GRCm39)	H1215L	possibly damaging	Het
Dock1	A	G	7: 134,390,972 (GRCm39)	Y744C	probably damaging	Het
Dok7	C	T	5: 35,236,483 (GRCm39)	T257I	possibly damaging	Het
Eif4g1	T	C	16: 20,499,811 (GRCm39)	Y591H	probably damaging	Het
Fat3	T	C	9: 15,908,479 (GRCm39)	T2508A	possibly damaging	Het
Gm266	A	G	12: 111,451,723 (GRCm39)	V161A	probably damaging	Het
Golgb1	A	G	16: 36,707,979 (GRCm39)	I107V	probably benign	Het
Gpnmb	T	C	6: 49,024,786 (GRCm39)	F273L	probably damaging	Het
Hcn1	A	T	13: 118,112,610 (GRCm39)	Q858L	probably damaging	Het
Hcrtr1	G	T	4: 130,029,129 (GRCm39)	Y224*	probably null	Het
Hepacam	A	G	9: 37,291,954 (GRCm39)	D94G	probably benign	Het
Herc2	T	A	7: 55,784,853 (GRCm39)	H1432Q	probably benign	Het
Il20	T	A	1: 130,836,086 (GRCm39)		probably null	Het
Itga10	A	G	3: 96,570,293 (GRCm39)	T1150A	probably damaging	Het
Itgax	C	T	7: 127,730,063 (GRCm39)	T73I	probably benign	Het
Kdm6b	T	A	11: 69,298,414 (GRCm39)	Q98L	possibly damaging	Het
Lrrc7	A	G	3: 157,867,045 (GRCm39)	W899R	probably damaging	Het
Meikin	C	A	11: 54,281,392 (GRCm39)	S154*	probably null	Het
Mrgprg	A	T	7: 143,318,288 (GRCm39)	S275T	possibly damaging	Het
Mstn	C	T	1: 53,103,236 (GRCm39)	R191*	probably null	Het
Neu3	A	G	7: 99,462,640 (GRCm39)	I361T	probably damaging	Het
Nrxn3	A	G	12: 90,299,165 (GRCm39)	D425G	probably damaging	Het
Nup205	T	A	6: 35,211,723 (GRCm39)	M1688K	probably benign	Het
Omg	C	T	11: 79,393,726 (GRCm39)	C44Y	possibly damaging	Het
Or1d2	A	T	11: 74,255,759 (GRCm39)	Q88L	probably benign	Het
Or52n3	A	G	7: 104,530,387 (GRCm39)	M158V	probably benign	Het
Pcdh8	T	C	14: 80,005,574 (GRCm39)	D938G	probably damaging	Het
Pp2d1	T	C	17: 53,822,406 (GRCm39)	D220G	possibly damaging	Het
Prune2	C	T	19: 17,098,015 (GRCm39)	T1173I	possibly damaging	Het
Rbfox3	T	C	11: 118,384,981 (GRCm39)	T359A	probably damaging	Het
Rhpn2	A	G	7: 35,076,466 (GRCm39)	Y339C	probably damaging	Het
Rpl7a-ps3	A	G	15: 36,308,309 (GRCm39)		noncoding transcript	Het
Sars1	T	C	3: 108,336,732 (GRCm39)	E217G	probably damaging	Het
Slc12a7	T	A	13: 73,938,790 (GRCm39)	I189N	probably damaging	Het
Slc5a10	G	A	11: 61,567,070 (GRCm39)	A375V	possibly damaging	Het
Srfbp1	C	T	18: 52,621,967 (GRCm39)	H343Y	possibly damaging	Het
Tbck	T	G	3: 132,440,116 (GRCm39)	I486M	probably damaging	Het
Thra	G	A	11: 98,647,805 (GRCm39)	A60T	probably damaging	Het
Thsd7a	T	A	6: 12,504,063 (GRCm39)	T364S	possibly damaging	Het
Ttc16	C	T	2: 32,652,547 (GRCm39)	D761N	probably benign	Het
Vwa7	T	C	17: 35,238,047 (GRCm39)	L216P	probably benign	Het
Ydjc	T	C	16: 16,965,703 (GRCm39)	V156A	possibly damaging	Het

Other mutations in Sec61a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Sec61a2	APN	2	5,876,831 (GRCm39)	missense	possibly damaging	0.93
IGL01690:Sec61a2	APN	2	5,891,363 (GRCm39)	missense	possibly damaging	0.57
IGL01999:Sec61a2	APN	2	5,896,174 (GRCm39)	splice site	probably benign
IGL02608:Sec61a2	APN	2	5,879,073 (GRCm39)	missense	probably benign	0.01
IGL03131:Sec61a2	APN	2	5,887,689 (GRCm39)	nonsense	probably null
IGL03271:Sec61a2	APN	2	5,887,745 (GRCm39)	nonsense	probably null
IGL03294:Sec61a2	APN	2	5,881,276 (GRCm39)	splice site	probably null
R0413:Sec61a2	UTSW	2	5,881,165 (GRCm39)	intron	probably benign
R0742:Sec61a2	UTSW	2	5,881,359 (GRCm39)	missense	probably benign	0.01
R1929:Sec61a2	UTSW	2	5,878,547 (GRCm39)	splice site	probably benign
R2680:Sec61a2	UTSW	2	5,878,556 (GRCm39)	missense	probably benign	0.00
R3522:Sec61a2	UTSW	2	5,898,027 (GRCm39)	missense	probably benign	0.00
R3788:Sec61a2	UTSW	2	5,884,436 (GRCm39)	splice site	probably null
R4405:Sec61a2	UTSW	2	5,887,670 (GRCm39)	missense	probably benign	0.40
R4660:Sec61a2	UTSW	2	5,878,504 (GRCm39)	intron	probably benign
R5387:Sec61a2	UTSW	2	5,887,356 (GRCm39)	intron	probably benign
R5530:Sec61a2	UTSW	2	5,887,461 (GRCm39)	nonsense	probably null
R5546:Sec61a2	UTSW	2	5,881,351 (GRCm39)	missense	possibly damaging	0.78
R5775:Sec61a2	UTSW	2	5,887,585 (GRCm39)	splice site	probably null
R5922:Sec61a2	UTSW	2	5,879,134 (GRCm39)	missense	possibly damaging	0.82
R5937:Sec61a2	UTSW	2	5,891,368 (GRCm39)	missense	probably benign	0.00
R6681:Sec61a2	UTSW	2	5,881,219 (GRCm39)	nonsense	probably null
R7499:Sec61a2	UTSW	2	5,882,725 (GRCm39)	missense	probably benign	0.37
R7564:Sec61a2	UTSW	2	5,887,415 (GRCm39)	missense	probably benign
R7947:Sec61a2	UTSW	2	5,881,794 (GRCm39)	missense	probably damaging	0.96
R8208:Sec61a2	UTSW	2	5,881,809 (GRCm39)	missense	probably benign	0.00
R8210:Sec61a2	UTSW	2	5,881,728 (GRCm39)	missense	possibly damaging	0.95
R8266:Sec61a2	UTSW	2	5,881,650 (GRCm39)	critical splice donor site	probably null
Z1177:Sec61a2	UTSW	2	5,891,376 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACCTCCCTGCCACTGCAAATC -3'
(R):5'- CAGTCTCCAACAGGCATTGTAGGCCA -3'

Sequencing Primer
(F):5'- taggaggcagaggcagg -3'
(R):5'- CATTGTAGGCCAAGCAAGTGC -3'

Posted On

2014-05-09