Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Sec61a2'

267506

Institutional Source

Beutler Lab

Gene Symbol

Sec61a2

Ensembl Gene

ENSMUSG00000025816

Gene Name

Sec61, alpha subunit 2 (S. cerevisiae)

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5870987-5895432 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5893216 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 5 (F5L)

Ref Sequence

ENSEMBL: ENSMUSP00000141333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026924] [ENSMUST00000026926] [ENSMUST00000095147] [ENSMUST00000102981] [ENSMUST00000193792]

AlphaFold

Q9JLR1

Predicted Effect

probably benign
Transcript: ENSMUST00000026924

SMART Domains

Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
low complexity region	150	165	N/A	INTRINSIC
Pfam:E1_dh	193	505	2.4e-44	PFAM
Blast:Transket_pyr	523	558	9e-8	BLAST
Transket_pyr	570	773	2.1e-54	SMART
Blast:Transket_pyr	775	805	7e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000026926
AA Change: F5L

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

SMART Domains

Protein: ENSMUSP00000026926
Gene: ENSMUSG00000025816
AA Change: F5L

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: ENSMUST00000095147

SMART Domains

Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815

Domain	Start	End	E-Value	Type
low complexity region	4	24	N/A	INTRINSIC
low complexity region	150	165	N/A	INTRINSIC
Pfam:E1_dh	193	505	2.4e-44	PFAM
Blast:Transket_pyr	523	558	9e-8	BLAST
Transket_pyr	570	773	2.1e-54	SMART
Blast:Transket_pyr	775	805	7e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000102981
AA Change: F5L

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

SMART Domains

Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816
AA Change: F5L

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: ENSMUST00000142787

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150099

Predicted Effect

probably benign
Transcript: ENSMUST00000193792
AA Change: F5L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816
AA Change: F5L

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

Meta Mutation Damage Score

0.2352

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,549,626		probably null	Het
Ankrd35	A	G	3: 96,685,062	E888G	probably damaging	Het
Arhgef10	T	C	8: 14,954,918	F150S	probably damaging	Het
Atp10d	G	T	5: 72,239,157	R235L	probably benign	Het
Cacna1b	A	G	2: 24,763,043	V2A	possibly damaging	Het
Cand1	A	T	10: 119,239,197	L15Q	probably benign	Het
Cavin3	C	A	7: 105,481,143	G154V	probably benign	Het
Ccdc73	A	T	2: 104,991,485	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,250,410	K161E	probably damaging	Het
Chil4	A	T	3: 106,203,740	N279K	probably benign	Het
Chst13	T	G	6: 90,318,263	D56A	probably damaging	Het
Cnn1	C	A	9: 22,099,368	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,702,493	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,871,193		probably null	Het
Dnah7a	A	C	1: 53,618,116	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,484,181	S182P	probably benign	Het
Fkbp5	T	C	17: 28,415,996	T180A	probably benign	Het
Flg2	T	A	3: 93,220,027	I2082N	unknown	Het
Gm4968	A	G	6: 127,233,762		noncoding transcript	Het
Gpc5	T	A	14: 116,524,335	H612Q	probably benign	Het
Gsg1	A	T	6: 135,241,253	V212D	probably damaging	Het
Hipk1	A	G	3: 103,744,114	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,576,285	Q136L	probably benign	Het
Ifi35	T	A	11: 101,457,685	S147R	probably benign	Het
Iqgap3	C	T	3: 88,090,782	A282V	probably null	Het
Jmy	T	C	13: 93,454,050	D515G	probably damaging	Het
Kctd10	G	A	5: 114,374,923	R64C	probably damaging	Het
Kidins220	T	C	12: 24,990,758	V121A	probably damaging	Het
Lcn3	G	A	2: 25,766,121	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,639,531	Y72F	probably benign	Het
Lrp1	T	C	10: 127,553,555	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,719,768	V222M	probably damaging	Het
Mst1	T	C	9: 108,081,503		probably benign	Het
Myo7b	C	A	18: 32,010,079	V189F	probably damaging	Het
Ndc1	T	C	4: 107,393,158	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,944,027	D164G	probably damaging	Het
Nol11	C	T	11: 107,173,628	C500Y	possibly damaging	Het
Nsd3	A	G	8: 25,706,614	N1208D	probably benign	Het
Nup155	C	T	15: 8,156,678		probably benign	Het
Olfr768	A	G	10: 129,093,842	I44T	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,785	T18A	probably damaging	Het
Olfr921	A	T	9: 38,775,720	D155V	possibly damaging	Het
Olfr988	A	T	2: 85,353,003	C308S	probably benign	Het
Phf3	A	G	1: 30,805,603	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,448,906	Y777H	probably damaging	Het
Pld1	A	G	3: 28,031,247	E184G	probably damaging	Het
Plxna1	T	C	6: 89,337,353		probably null	Het
Ptgfrn	T	C	3: 101,043,402	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,589,854		probably benign	Het
Pygb	G	T	2: 150,828,553	V763F	probably benign	Het
Ros1	A	C	10: 52,090,995	Y1705*	probably null	Het
Skint5	A	G	4: 113,756,905		probably null	Het
Sntg2	A	G	12: 30,312,567	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,920,322	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,446,544	M1R	probably null	Het
Sult1c1	T	C	17: 53,972,015	E91G	probably damaging	Het
Themis2	C	G	4: 132,785,595	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,059	L232P	probably benign	Het
Trappc1	T	C	11: 69,324,422	F43L	probably damaging	Het
Trappc11	A	T	8: 47,498,673	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,627,405	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,663,075		probably null	Het
Vmn1r184	T	A	7: 26,267,583	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,099,374	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,747,865	V233F	probably benign	Het
Vps13a	A	C	19: 16,766,493		probably benign	Het
Vwa5b2	A	G	16: 20,601,608	S756G	probably damaging	Het
Wdr36	T	A	18: 32,861,485		probably null	Het
Wdr86	A	G	5: 24,718,307	V129A	probably benign	Het
Zfyve9	A	G	4: 108,719,743	L47S	probably benign	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
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
R5387:Sec61a2	UTSW	2	5882545	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'- AGTTGCCTTCTGACTGTCAC -3'
(R):5'- AGGGTTGGGTTTAAACCTGAAG -3'

Sequencing Primer
(F):5'- ATCTCTGTGAGTTCAAGGCCAGC -3'
(R):5'- GGTGGATGTGATAAACTGCT -3'

Posted On

2015-02-18