Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Sec61a2'

267506

Institutional Source

Beutler Lab

Gene Symbol

Sec61a2

Ensembl Gene

ENSMUSG00000025816

Gene Name

SEC61 translocon subunit alpha 2

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5875798-5900243 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5898027 bp (GRCm39)

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
Ankrd35	A	G	3: 96,592,378 (GRCm39)	E888G	probably damaging	Het
Arhgef10	T	C	8: 15,004,918 (GRCm39)	F150S	probably damaging	Het
Atp10d	G	T	5: 72,396,500 (GRCm39)	R235L	probably benign	Het
Cacna1b	A	G	2: 24,653,055 (GRCm39)	V2A	possibly damaging	Het
Cand1	A	T	10: 119,075,102 (GRCm39)	L15Q	probably benign	Het
Cavin3	C	A	7: 105,130,350 (GRCm39)	G154V	probably benign	Het
Ccdc73	A	T	2: 104,821,830 (GRCm39)	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,168,647 (GRCm39)	K161E	probably damaging	Het
Chil4	A	T	3: 106,111,056 (GRCm39)	N279K	probably benign	Het
Chst13	T	G	6: 90,295,245 (GRCm39)	D56A	probably damaging	Het
Cnn1	C	A	9: 22,010,664 (GRCm39)	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,593,319 (GRCm39)	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,713,113 (GRCm39)		probably null	Het
Dnah7a	A	C	1: 53,657,275 (GRCm39)	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,461,163 (GRCm39)	S182P	probably benign	Het
Fkbp5	T	C	17: 28,634,970 (GRCm39)	T180A	probably benign	Het
Flg2	T	A	3: 93,127,334 (GRCm39)	I2082N	unknown	Het
Gm4968	A	G	6: 127,210,725 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 116,761,747 (GRCm39)	H612Q	probably benign	Het
Gsg1	A	T	6: 135,218,251 (GRCm39)	V212D	probably damaging	Het
Hipk1	A	G	3: 103,651,430 (GRCm39)	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,483,596 (GRCm39)	Q136L	probably benign	Het
Ifi35	T	A	11: 101,348,511 (GRCm39)	S147R	probably benign	Het
Iqca1l	A	G	5: 24,754,624 (GRCm39)		probably null	Het
Iqgap3	C	T	3: 87,998,089 (GRCm39)	A282V	probably null	Het
Jmy	T	C	13: 93,590,558 (GRCm39)	D515G	probably damaging	Het
Kctd10	G	A	5: 114,512,984 (GRCm39)	R64C	probably damaging	Het
Kidins220	T	C	12: 25,040,757 (GRCm39)	V121A	probably damaging	Het
Lcn3	G	A	2: 25,656,133 (GRCm39)	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,529,543 (GRCm39)	Y72F	probably benign	Het
Lrp1	T	C	10: 127,389,424 (GRCm39)	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,758,927 (GRCm39)	V222M	probably damaging	Het
Mst1	T	C	9: 107,958,702 (GRCm39)		probably benign	Het
Myo7b	C	A	18: 32,143,132 (GRCm39)	V189F	probably damaging	Het
Ndc1	T	C	4: 107,250,355 (GRCm39)	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,785,947 (GRCm39)	D164G	probably damaging	Het
Nol11	C	T	11: 107,064,454 (GRCm39)	C500Y	possibly damaging	Het
Nsd3	A	G	8: 26,196,642 (GRCm39)	N1208D	probably benign	Het
Nup155	C	T	15: 8,186,162 (GRCm39)		probably benign	Het
Or5ak20	A	T	2: 85,183,347 (GRCm39)	C308S	probably benign	Het
Or6c38	A	G	10: 128,929,711 (GRCm39)	I44T	possibly damaging	Het
Or8b47	A	G	9: 38,435,081 (GRCm39)	T18A	probably damaging	Het
Or8b54	A	T	9: 38,687,016 (GRCm39)	D155V	possibly damaging	Het
Phf3	A	G	1: 30,844,684 (GRCm39)	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,279,250 (GRCm39)	Y777H	probably damaging	Het
Pld1	A	G	3: 28,085,396 (GRCm39)	E184G	probably damaging	Het
Plxna1	T	C	6: 89,314,335 (GRCm39)		probably null	Het
Ptgfrn	T	C	3: 100,950,718 (GRCm39)	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,737,720 (GRCm39)		probably benign	Het
Pygb	G	T	2: 150,670,473 (GRCm39)	V763F	probably benign	Het
Ros1	A	C	10: 51,967,091 (GRCm39)	Y1705*	probably null	Het
Skint5	A	G	4: 113,614,102 (GRCm39)		probably null	Het
Sntg2	A	G	12: 30,362,566 (GRCm39)	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,762,242 (GRCm39)	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,584,603 (GRCm39)	M1R	probably null	Het
Sult1c2	T	C	17: 54,279,043 (GRCm39)	E91G	probably damaging	Het
Themis2	C	G	4: 132,512,906 (GRCm39)	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,058 (GRCm39)	L232P	probably benign	Het
Trappc1	T	C	11: 69,215,248 (GRCm39)	F43L	probably damaging	Het
Trappc11	A	T	8: 47,951,708 (GRCm39)	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,604,339 (GRCm39)	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,640,057 (GRCm39)		probably null	Het
Vmn1r184	T	A	7: 25,967,008 (GRCm39)	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,283,544 (GRCm39)	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,481,792 (GRCm39)	V233F	probably benign	Het
Vps13a	A	C	19: 16,743,857 (GRCm39)		probably benign	Het
Vwa5b2	A	G	16: 20,420,358 (GRCm39)	S756G	probably damaging	Het
Wdr36	T	A	18: 32,994,538 (GRCm39)		probably null	Het
Wdr86	A	G	5: 24,923,305 (GRCm39)	V129A	probably benign	Het
Zfyve9	A	G	4: 108,576,940 (GRCm39)	L47S	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
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'- AGTTGCCTTCTGACTGTCAC -3'
(R):5'- AGGGTTGGGTTTAAACCTGAAG -3'

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

Posted On

2015-02-18