Mutagenetix > Incidental Mutations

Incidental Mutation 'R5387:Sec61a2'

425309

Institutional Source

Beutler Lab

Gene Symbol

Sec61a2

Ensembl Gene

ENSMUSG00000025816

Gene Name

Sec61, alpha subunit 2 (S. cerevisiae)

Synonyms

MMRRC Submission

042959-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R5387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5870987-5895432 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 5882545 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141333 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026926

SMART Domains

Protein: ENSMUSP00000026926
Gene: ENSMUSG00000025816

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

probably benign
Transcript: ENSMUST00000102981

SMART Domains

Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132469

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148745

Predicted Effect

probably benign
Transcript: ENSMUST00000193792

SMART Domains

Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816

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: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,974	D32E	probably benign	Het
2210408I21Rik	T	A	13: 77,259,973	S140T	probably benign	Het
Ahnak	T	C	19: 9,003,691	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,634,644	H1205N	probably damaging	Het
Ano1	T	C	7: 144,648,619	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573	C114W	probably damaging	Het
Ascl1	C	T	10: 87,492,689	A134T	probably damaging	Het
Atl2	C	T	17: 79,852,800	E453K	probably benign	Het
Aup1	C	T	6: 83,055,024	A84V	probably damaging	Het
Btbd7	A	T	12: 102,837,785	M332K	probably damaging	Het
Cacna1d	A	G	14: 30,100,751	V1107A	probably damaging	Het
Cd33	G	A	7: 43,532,053	Q114*	probably null	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Defb22	C	A	2: 152,485,906	A120S	unknown	Het
Dnah7b	A	G	1: 46,188,659	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,134,842	I549T	possibly damaging	Het
Esp15	T	A	17: 39,644,577		probably null	Het
Fbxo7	A	G	10: 86,024,654	T42A	probably benign	Het
Filip1	A	G	9: 79,818,274	I1021T	probably benign	Het
Gad1	C	A	2: 70,563,851	S7*	probably null	Het
Gm281	C	A	14: 13,914,438	M1I	probably null	Het
H2-Q7	C	T	17: 35,439,542	T52M	probably damaging	Het
H2-T3	C	T	17: 36,186,702	G28R	probably benign	Het
Hist1h2ad	T	A	13: 23,574,667		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ift81	A	G	5: 122,555,535	Y604H	probably damaging	Het
Igsf11	A	G	16: 39,022,423	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,914,876	A846S	probably benign	Het
Lnx2	G	A	5: 147,028,154	P420S	probably benign	Het
Lrit2	A	G	14: 37,072,259	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,499,671		probably null	Het
Mug1	T	C	6: 121,884,394	Y1325H	probably damaging	Het
Naglu	A	T	11: 101,076,724	Y500F	probably damaging	Het
Npy4r	A	G	14: 34,146,983	M116T	probably benign	Het
Nrd1	A	G	4: 109,039,762	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,762,813	S472P	probably benign	Het
Olfr102	T	A	17: 37,314,292	T31S	probably benign	Het
Olfr361	T	C	2: 37,085,719	T10A	possibly damaging	Het
Otogl	T	A	10: 107,780,933	T1828S	probably benign	Het
Pank2	C	T	2: 131,274,262	T200I	probably benign	Het
Pbrm1	A	G	14: 31,082,610	Y946C	probably damaging	Het
Pde12	A	T	14: 26,666,453	S437T	probably benign	Het
Pikfyve	A	G	1: 65,265,268	K1710E	possibly damaging	Het
Plcd3	A	G	11: 103,078,455	S229P	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 105,040,177	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,485,434	S620P	probably damaging	Het
Rab33b	A	G	3: 51,493,455	T117A	probably damaging	Het
Rasal2	T	C	1: 157,157,765	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,956,413	T773A	possibly damaging	Het
Rrnad1	A	T	3: 87,930,011		probably benign	Het
Rspry1	A	G	8: 94,638,286	T185A	possibly damaging	Het
Setx	C	T	2: 29,147,594	R1364C	probably benign	Het
Shtn1	G	T	19: 59,038,369	L97M	probably damaging	Het
Slc35f1	T	C	10: 53,108,164	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,643,909		probably benign	Het
Slmap	T	C	14: 26,459,933	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096	A924V	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Tecta	G	A	9: 42,375,063	L766F	probably damaging	Het
Tle3	C	T	9: 61,407,489		probably null	Het
Top3a	A	G	11: 60,762,490	F53L	probably damaging	Het
Trem1	T	C	17: 48,241,513	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,446,963	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 90,006,596	Y975C	probably benign	Het
Ubxn11	C	A	4: 134,123,426	D196E	probably damaging	Het
Unc80	A	G	1: 66,530,021	H945R	possibly damaging	Het
Usp15	A	G	10: 123,131,286	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339	E138K	probably damaging	Het
Wapl	A	G	14: 34,677,295	E107G	probably benign	Het
Wbp1l	T	C	19: 46,644,457		probably null	Het
Zfp184	T	G	13: 21,949,640		probably benign	Het
Zfp36	A	C	7: 28,377,868	L205R	possibly damaging	Het

Other mutations in Sec61a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Sec61a2	APN	2	5872020	missense	possibly damaging	0.93
IGL01690:Sec61a2	APN	2	5886552	missense	possibly damaging	0.57
IGL01999:Sec61a2	APN	2	5891363	splice site	probably benign
IGL02608:Sec61a2	APN	2	5874262	missense	probably benign	0.01
IGL03131:Sec61a2	APN	2	5882878	nonsense	probably null
IGL03271:Sec61a2	APN	2	5882934	nonsense	probably null
IGL03294:Sec61a2	APN	2	5876465	splice site	probably null
R0413:Sec61a2	UTSW	2	5876354	intron	probably benign
R0742:Sec61a2	UTSW	2	5876548	missense	probably benign	0.01
R1659:Sec61a2	UTSW	2	5886534	missense	possibly damaging	0.91
R1929:Sec61a2	UTSW	2	5873736	splice site	probably benign
R2680:Sec61a2	UTSW	2	5873745	missense	probably benign	0.00
R3522:Sec61a2	UTSW	2	5893216	missense	probably benign	0.00
R3788:Sec61a2	UTSW	2	5879625	splice site	probably null
R4405:Sec61a2	UTSW	2	5882859	missense	probably benign	0.40
R4660:Sec61a2	UTSW	2	5873693	intron	probably benign
R5530:Sec61a2	UTSW	2	5882650	nonsense	probably null
R5546:Sec61a2	UTSW	2	5876540	missense	possibly damaging	0.78
R5775:Sec61a2	UTSW	2	5882774	splice site	probably null
R5922:Sec61a2	UTSW	2	5874323	missense	possibly damaging	0.82
R5937:Sec61a2	UTSW	2	5886557	missense	probably benign	0.00
R6681:Sec61a2	UTSW	2	5876408	nonsense	probably null
R7499:Sec61a2	UTSW	2	5877914	missense	probably benign	0.37
R7564:Sec61a2	UTSW	2	5882604	missense	probably benign
R7947:Sec61a2	UTSW	2	5876983	missense	probably damaging	0.96
R8208:Sec61a2	UTSW	2	5876998	missense	probably benign	0.00
R8210:Sec61a2	UTSW	2	5876917	missense	possibly damaging	0.95
R8266:Sec61a2	UTSW	2	5876839	critical splice donor site	probably null
Z1177:Sec61a2	UTSW	2	5886565	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGCAGCATCTGTTACAGTG -3'
(R):5'- TCAATGGAGCCCAGAAATGTG -3'

Sequencing Primer
(F):5'- CTGTTACAGTGACAGACTATGAAGC -3'
(R):5'- GCCCAGAAATGTGAGCGATC -3'

Posted On

2016-08-04