Incidental Mutation 'R5530:Sec61a2'
ID 433616
Institutional Source Beutler Lab
Gene Symbol Sec61a2
Ensembl Gene ENSMUSG00000025816
Gene Name SEC61 translocon subunit alpha 2
Synonyms
MMRRC Submission 043088-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.293) question?
Stock # R5530 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 5875798-5900243 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 5887461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 131 (Y131*)
Ref Sequence ENSEMBL: ENSMUSP00000141333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026926] [ENSMUST00000102981] [ENSMUST00000193792]
AlphaFold Q9JLR1
Predicted Effect probably null
Transcript: ENSMUST00000026926
AA Change: Y131*
SMART Domains Protein: ENSMUSP00000026926
Gene: ENSMUSG00000025816
AA Change: Y131*

DomainStartEndE-ValueType
Pfam:Plug_translocon 40 74 6.9e-24 PFAM
Pfam:SecY 75 162 1.2e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102981
AA Change: Y131*
SMART Domains Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816
AA Change: Y131*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000193792
AA Change: Y131*
SMART Domains Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816
AA Change: Y131*

DomainStartEndE-ValueType
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: 98.6%
  • 3x: 97.4%
  • 10x: 95.3%
  • 20x: 91.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 A G 1: 75,154,556 (GRCm39) probably benign Het
Anapc2 A G 2: 25,174,595 (GRCm39) K653E possibly damaging Het
Aplp1 T C 7: 30,136,254 (GRCm39) S508G possibly damaging Het
Bend3 T A 10: 43,387,722 (GRCm39) V705D probably damaging Het
Btaf1 C A 19: 36,968,175 (GRCm39) A1120E possibly damaging Het
Carmil3 T C 14: 55,731,081 (GRCm39) V116A probably damaging Het
Cdk5rap3 A T 11: 96,802,459 (GRCm39) Y238* probably null Het
Cep170 T C 1: 176,597,076 (GRCm39) H427R probably benign Het
Cubn G A 2: 13,313,334 (GRCm39) R3079W probably damaging Het
Edc4 G T 8: 106,615,886 (GRCm39) E694* probably null Het
Entrep1 T A 19: 23,952,958 (GRCm39) T451S probably benign Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Fbxo46 T C 7: 18,870,727 (GRCm39) Y449H probably damaging Het
Ficd C A 5: 113,876,986 (GRCm39) P387Q probably damaging Het
Grin2b T C 6: 135,710,721 (GRCm39) T942A probably benign Het
Hoxb1 G C 11: 96,257,754 (GRCm39) R228P probably damaging Het
Jmjd1c T C 10: 67,085,541 (GRCm39) F2444L probably damaging Het
Kcnj2 T C 11: 110,962,917 (GRCm39) F103S probably damaging Het
Mapkbp1 A G 2: 119,845,836 (GRCm39) I402V probably benign Het
Mtcl2 T A 2: 156,862,262 (GRCm39) S1556C probably damaging Het
Mvp A G 7: 126,595,095 (GRCm39) V250A probably benign Het
Myo1b T A 1: 51,836,582 (GRCm39) N293I probably damaging Het
Npy5r T A 8: 67,133,512 (GRCm39) Y427F probably benign Het
Nrdc C T 4: 108,904,806 (GRCm39) T747M probably damaging Het
Nrxn2 C T 19: 6,548,397 (GRCm39) P30L possibly damaging Het
Nt5dc3 T C 10: 86,656,857 (GRCm39) F332S probably damaging Het
Optc T G 1: 133,832,828 (GRCm39) T91P probably benign Het
Or14j10 A G 17: 37,934,698 (GRCm39) I276T possibly damaging Het
Or8b12c A G 9: 37,716,103 (GRCm39) T299A probably benign Het
Otud7b A T 3: 96,048,799 (GRCm39) E92V probably damaging Het
Pgap4 A G 4: 49,586,226 (GRCm39) L314P probably benign Het
Pla2g4d A G 2: 120,100,036 (GRCm39) I677T probably benign Het
Pot1a T C 6: 25,778,893 (GRCm39) E67G probably damaging Het
Ppil6 T C 10: 41,383,494 (GRCm39) S257P probably damaging Het
Ppp1r14a T C 7: 28,988,791 (GRCm39) L11P probably benign Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Pramel13 A T 4: 144,119,232 (GRCm39) M445K probably benign Het
Rad21l A T 2: 151,499,430 (GRCm39) I257K probably benign Het
Rbm11 A G 16: 75,389,861 (GRCm39) D9G possibly damaging Het
Rhbdf2 T C 11: 116,491,488 (GRCm39) Y586C probably damaging Het
Rxfp2 A T 5: 149,980,275 (GRCm39) I276F probably damaging Het
Sec14l4 A G 11: 3,996,342 (GRCm39) *404W probably null Het
Sec16a A G 2: 26,329,264 (GRCm39) V917A probably benign Het
Sspo A T 6: 48,442,517 (GRCm39) Y2004F probably damaging Het
Stab2 T C 10: 86,783,026 (GRCm39) E674G probably benign Het
Tmf1 A G 6: 97,135,048 (GRCm39) S989P probably damaging Het
Tshz1 T C 18: 84,031,393 (GRCm39) D1005G probably damaging Het
Wdr19 T C 5: 65,385,562 (GRCm39) S555P probably benign Het
Zdhhc24 T A 19: 4,933,591 (GRCm39) probably null Het
Zfp558 A G 9: 18,367,669 (GRCm39) M373T probably benign Het
Other mutations in Sec61a2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGTTACAGTGACAGACTATGAAGC -3'
(R):5'- CAATGGAGCCCAGAAATGTG -3'

Sequencing Primer
(F):5'- ACAGTGACAGACTATGAAGCTATTAG -3'
(R):5'- GCCCAGAAATGTGAGCGATC -3'
Posted On 2016-10-06