Mutagenetix > Incidental Mutation

Incidental Mutation 'R5546:Sec61a2'

436258

Institutional Source

Beutler Lab

Gene Symbol

Sec61a2

Ensembl Gene

ENSMUSG00000025816

Gene Name

SEC61 translocon subunit alpha 2

Synonyms

MMRRC Submission

043104-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R5546 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5875798-5900243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5881351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 267 (I267F)

Ref Sequence

ENSEMBL: ENSMUSP00000100046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026926] [ENSMUST00000026927] [ENSMUST00000102981] [ENSMUST00000193792]

AlphaFold

Q9JLR1

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: ENSMUST00000026927

SMART Domains

Protein: ENSMUSP00000026927
Gene: ENSMUSG00000025817

Domain	Start	End	E-Value	Type
Pfam:NUDIX	57	191	1.1e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102981
AA Change: I267F

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816
AA Change: I267F

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: ENSMUST00000124859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132469

Predicted Effect

probably benign
Transcript: ENSMUST00000132908

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153240

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,806,832 (GRCm39)	N385S	probably benign	Het
Ahctf1	A	T	1: 179,581,633 (GRCm39)	I1523N	probably benign	Het
Akna	C	T	4: 63,313,196 (GRCm39)	G309E	probably benign	Het
Akna	T	C	4: 63,313,803 (GRCm39)	N107D	probably benign	Het
Arhgef15	G	A	11: 68,844,877 (GRCm39)	P240L	probably benign	Het
Brd1	T	A	15: 88,585,325 (GRCm39)	E836D	probably benign	Het
Brf2	A	G	8: 27,614,311 (GRCm39)	S292P	possibly damaging	Het
C3	A	G	17: 57,529,976 (GRCm39)	L500P	probably damaging	Het
Cblif	T	C	19: 11,725,859 (GRCm39)	S50P	possibly damaging	Het
Ccdc107	T	C	4: 43,495,685 (GRCm39)	L196P	probably damaging	Het
Cdcp1	G	T	9: 123,007,094 (GRCm39)	P551Q	probably damaging	Het
Ckap5	T	C	2: 91,425,161 (GRCm39)	L1224P	probably damaging	Het
Csnk1g2	C	A	10: 80,474,232 (GRCm39)	T178K	probably benign	Het
Ctsq	A	T	13: 61,185,702 (GRCm39)	C146*	probably null	Het
Cyp2ab1	T	A	16: 20,132,507 (GRCm39)	I264F	probably damaging	Het
Daxx	TGATGATGACGATGATGACGATGATGA	TGATGATGACGATGATGA	17: 34,131,615 (GRCm39)		probably benign	Het
Dnah11	G	A	12: 117,939,583 (GRCm39)	T3179M	possibly damaging	Het
Dnah7c	A	T	1: 46,705,477 (GRCm39)	T2497S	probably damaging	Het
Eif4enif1	T	C	11: 3,193,989 (GRCm39)	V776A	probably damaging	Het
Erbb4	G	T	1: 68,337,452 (GRCm39)	T622N	probably damaging	Het
Erich6	A	G	3: 58,526,218 (GRCm39)	Y595H	probably benign	Het
Fam107a	C	T	14: 8,298,764 (GRCm38)	A121T	probably benign	Het
Gpatch11	C	T	17: 79,149,548 (GRCm39)	Q183*	probably null	Het
Gpr161	C	A	1: 165,133,982 (GRCm39)	F81L	possibly damaging	Het
Hook1	G	T	4: 95,890,765 (GRCm39)	E291D	probably benign	Het
Hsf2bp	T	A	17: 32,165,669 (GRCm39)	I309F	probably damaging	Het
Hspg2	T	C	4: 137,275,485 (GRCm39)		probably null	Het
Ide	T	G	19: 37,249,623 (GRCm39)	M910L	unknown	Het
Igdcc4	A	G	9: 65,036,077 (GRCm39)	Y712C	probably damaging	Het
Kmt2d	T	C	15: 98,750,949 (GRCm39)		probably benign	Het
Lats1	T	C	10: 7,581,518 (GRCm39)	Y768H	probably damaging	Het
Mageb3	A	G	2: 121,784,868 (GRCm39)	V278A	probably damaging	Het
Mapkbp1	G	A	2: 119,849,724 (GRCm39)	R732H	probably damaging	Het
Marveld2	T	C	13: 100,737,446 (GRCm39)	I148V	probably benign	Het
Mast1	G	C	8: 85,642,889 (GRCm39)	P969A	probably damaging	Het
Myh10	T	G	11: 68,689,206 (GRCm39)	V1261G	possibly damaging	Het
Nlrp1b	A	T	11: 71,108,102 (GRCm39)	H466Q	probably benign	Het
Npr2	T	G	4: 43,650,150 (GRCm39)	V905G	probably damaging	Het
Oip5	T	A	2: 119,440,808 (GRCm39)	I240F	unknown	Het
Or4c12	A	G	2: 89,773,929 (GRCm39)	C177R	probably damaging	Het
Or5k8	G	T	16: 58,644,516 (GRCm39)	Y185*	probably null	Het
Or8b12	T	A	9: 37,657,820 (GRCm39)	M130K	probably benign	Het
Pcsk2	G	A	2: 143,388,480 (GRCm39)	A24T	probably benign	Het
Plxnb1	G	T	9: 108,929,818 (GRCm39)	G225W	probably damaging	Het
Polr1a	T	C	6: 71,906,350 (GRCm39)	S389P	possibly damaging	Het
Prkca	A	G	11: 107,944,806 (GRCm39)	V175A	probably benign	Het
Rassf7	C	A	7: 140,796,973 (GRCm39)		probably null	Het
Rbl2	A	G	8: 91,805,560 (GRCm39)	I206V	probably benign	Het
Rnf111	A	T	9: 70,366,378 (GRCm39)	H353Q	probably benign	Het
Rpn1	T	G	6: 88,070,841 (GRCm39)	V237G	probably damaging	Het
Spop	G	T	11: 95,376,669 (GRCm39)	V241F	probably damaging	Het
Sptbn2	C	T	19: 4,775,978 (GRCm39)	A178V	probably damaging	Het
Stard13	A	G	5: 150,969,366 (GRCm39)	Y791H	probably benign	Het
Susd2	T	A	10: 75,478,052 (GRCm39)	I113L	probably benign	Het
Tcof1	T	C	18: 60,964,628 (GRCm39)	E666G	possibly damaging	Het
Tekt5	G	T	16: 10,179,254 (GRCm39)	A371E	possibly damaging	Het
Thap11	G	A	8: 106,582,548 (GRCm39)	E186K	probably damaging	Het
Tk2	A	T	8: 104,974,315 (GRCm39)	D45E	possibly damaging	Het
Tuba8	C	A	6: 121,199,872 (GRCm39)	Y185*	probably null	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Wfdc8	A	T	2: 164,439,239 (GRCm39)		probably benign	Het
Zar1l	T	C	5: 150,436,365 (GRCm39)	N237S	probably damaging	Het
Zfp607b	A	T	7: 27,402,032 (GRCm39)	T163S	probably benign	Het
Zfp619	C	A	7: 39,184,577 (GRCm39)	H202Q	probably benign	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
R1659:Sec61a2	UTSW	2	5,891,345 (GRCm39)	missense	possibly damaging	0.91
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
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'- GCCCACTGTCCTAGTAAGTTTACTAAG -3'
(R):5'- TCAAAAGGATGGTGTCTAACAAGTG -3'

Sequencing Primer
(F):5'- GAAGTTGCCACTAAATCGAACAG -3'
(R):5'- CTAGTTTGAAGGTGGGAAATATTGCC -3'

Posted On

2016-10-24