Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02608:Sec61a2'

300370

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sec61a2

Ensembl Gene

ENSMUSG00000025816

Gene Name

SEC61 translocon subunit alpha 2

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02608

Quality Score

Status

Chromosome

Chromosomal Location

5875798-5900243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5879073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 312 (T312A)

Ref Sequence

ENSEMBL: ENSMUSP00000141333 (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

probably benign
Transcript: ENSMUST00000102981
AA Change: T378A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816
AA Change: T378A

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

probably benign
Transcript: ENSMUST00000193792
AA Change: T312A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816
AA Change: T312A

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: ENSMUST00000148745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153240

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	T	A	15: 102,247,627 (GRCm39)	M415L	probably benign	Het
Akap6	T	C	12: 53,057,389 (GRCm39)	S952P	probably benign	Het
Aldh3a1	A	G	11: 61,107,147 (GRCm39)	R284G	probably damaging	Het
Aldh3b1	G	T	19: 3,964,061 (GRCm39)	H414N	probably damaging	Het
Chd5	G	A	4: 152,440,564 (GRCm39)	M141I	possibly damaging	Het
Cntn2	C	T	1: 132,453,654 (GRCm39)	A340T	possibly damaging	Het
Daw1	T	A	1: 83,187,055 (GRCm39)	C288*	probably null	Het
Dcn	A	G	10: 97,319,319 (GRCm39)	E32G	probably damaging	Het
Dock5	C	T	14: 68,065,888 (GRCm39)	V372M	probably benign	Het
Etf1	T	C	18: 35,064,670 (GRCm39)	E13G	probably damaging	Het
Filip1l	A	G	16: 57,392,469 (GRCm39)	E781G	probably benign	Het
Gucy1a2	A	G	9: 3,635,113 (GRCm39)	I386V	probably damaging	Het
Gvin-ps5	T	A	7: 105,928,876 (GRCm39)		noncoding transcript	Het
Hoxb5	T	A	11: 96,195,969 (GRCm39)		probably benign	Het
Iqch	T	A	9: 63,329,110 (GRCm39)		probably benign	Het
Itgal	C	T	7: 126,909,416 (GRCm39)	P423S	probably damaging	Het
Kti12	T	G	4: 108,705,359 (GRCm39)	L91R	probably damaging	Het
Lgals3	T	C	14: 47,623,058 (GRCm39)	M239T	probably benign	Het
Lrrc8a	T	C	2: 30,146,311 (GRCm39)	M375T	possibly damaging	Het
Ly75	T	C	2: 60,152,244 (GRCm39)	E1103G	probably benign	Het
Lyst	A	T	13: 13,887,339 (GRCm39)	E3056V	probably damaging	Het
Map3k7	T	C	4: 31,981,452 (GRCm39)		probably benign	Het
Ncor1	G	A	11: 62,264,040 (GRCm39)	T180I	probably benign	Het
Nectin4	T	C	1: 171,212,341 (GRCm39)	V313A	probably benign	Het
Nol4l	A	G	2: 153,278,213 (GRCm39)	S8P	possibly damaging	Het
Npas2	T	A	1: 39,384,527 (GRCm39)	S607T	probably benign	Het
Nup155	T	A	15: 8,138,955 (GRCm39)	M9K	probably benign	Het
Nwd1	T	C	8: 73,394,003 (GRCm39)	L422P	probably damaging	Het
Or14j3	T	A	17: 37,901,110 (GRCm39)	I45F	probably damaging	Het
Papola	G	T	12: 105,775,818 (GRCm39)	G245C	probably damaging	Het
Pcdhb6	T	C	18: 37,467,747 (GRCm39)	S223P	probably damaging	Het
Pdcd4	T	C	19: 53,915,638 (GRCm39)		probably null	Het
Pigg	T	C	5: 108,460,869 (GRCm39)	F27L	probably damaging	Het
Prpf40a	A	T	2: 53,036,165 (GRCm39)	M588K	probably damaging	Het
Psme4	A	G	11: 30,770,944 (GRCm39)	N764S	probably benign	Het
Ptar1	A	C	19: 23,683,076 (GRCm39)	E110A	possibly damaging	Het
Rbm12	A	T	2: 155,937,818 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,524,576 (GRCm39)	T589A	probably benign	Het
Rpl21-ps4	G	T	14: 11,227,831 (GRCm38)		noncoding transcript	Het
Rpp38	T	C	2: 3,330,198 (GRCm39)	T235A	probably benign	Het
Sbno2	A	T	10: 79,903,236 (GRCm39)		probably null	Het
Scn3a	A	T	2: 65,354,510 (GRCm39)	C337*	probably null	Het
Snrpg	C	A	6: 86,353,550 (GRCm39)	D43E	probably damaging	Het
Stag1	A	T	9: 100,639,822 (GRCm39)	Q126L	probably null	Het
Taar6	A	G	10: 23,861,081 (GRCm39)	V155A	probably benign	Het
Tet1	G	A	10: 62,715,388 (GRCm39)	H136Y	possibly damaging	Het
Tet1	C	A	10: 62,674,866 (GRCm39)	S1070I	probably damaging	Het
Tfcp2	T	C	15: 100,411,991 (GRCm39)	T327A	possibly damaging	Het
Tnfrsf13c	C	T	15: 82,107,364 (GRCm39)	V144M	probably damaging	Het
Tnfrsf22	T	A	7: 143,198,533 (GRCm39)	K61*	probably null	Het
Trhr	T	C	15: 44,061,074 (GRCm39)	V198A	probably benign	Het
Trp53inp2	A	G	2: 155,228,569 (GRCm39)	R175G	probably damaging	Het
Try10	G	A	6: 41,332,421 (GRCm39)	G26R	probably damaging	Het
Vmn1r205	A	G	13: 22,776,370 (GRCm39)	V244A	probably damaging	Het
Wrnip1	T	A	13: 32,990,857 (GRCm39)	L372H	probably damaging	Het
Zfp280d	T	A	9: 72,215,261 (GRCm39)	L149Q	probably damaging	Het
Zfp445	A	G	9: 122,690,940 (GRCm39)	V85A	probably 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
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
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

Posted On

2015-04-16