Incidental Mutation 'R4405:Sec61a2'
ID 327584
Institutional Source Beutler Lab
Gene Symbol Sec61a2
Ensembl Gene ENSMUSG00000025816
Gene Name SEC61 translocon subunit alpha 2
Synonyms
MMRRC Submission 041134-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.293) question?
Stock # R4405 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 5875798-5900243 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5887670 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 104 (D104G)
Ref Sequence ENSEMBL: ENSMUSP00000026926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026926] [ENSMUST00000102981] [ENSMUST00000193792]
AlphaFold Q9JLR1
Predicted Effect probably benign
Transcript: ENSMUST00000026926
AA Change: D104G

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026926
Gene: ENSMUSG00000025816
AA Change: D104G

DomainStartEndE-ValueType
Pfam:Plug_translocon 40 74 6.9e-24 PFAM
Pfam:SecY 75 162 1.2e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102981
AA Change: D104G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816
AA Change: D104G

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 benign
Transcript: ENSMUST00000193792
AA Change: D104G

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816
AA Change: D104G

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 C T 8: 95,763,536 (GRCm39) A279V probably benign Het
Aggf1 G A 13: 95,508,102 (GRCm39) P88L probably benign Het
Asb18 T C 1: 89,896,411 (GRCm39) T210A probably benign Het
Cd8b1 C T 6: 71,303,006 (GRCm39) S27L possibly damaging Het
Cfap43 C T 19: 47,728,236 (GRCm39) S1507N possibly damaging Het
Col12a1 A T 9: 79,547,247 (GRCm39) probably null Het
Col19a1 G A 1: 24,573,190 (GRCm39) T194M unknown Het
Cpb1 T A 3: 20,317,733 (GRCm39) T237S probably benign Het
Cubn G A 2: 13,470,841 (GRCm39) T517M probably damaging Het
Dnah6 T C 6: 73,106,274 (GRCm39) N1769S probably benign Het
Dnm1 A G 2: 32,225,984 (GRCm39) I365T probably damaging Het
E2f5 T A 3: 14,668,823 (GRCm39) D238E probably benign Het
Etv6 A G 6: 134,210,497 (GRCm39) E115G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gapvd1 C T 2: 34,618,747 (GRCm39) V209I probably damaging Het
Gbp8 G A 5: 105,198,928 (GRCm39) probably benign Het
Gprc6a T C 10: 51,504,639 (GRCm39) I68M probably benign Het
Grb14 T C 2: 64,783,966 (GRCm39) N54D probably damaging Het
Gucy2g A T 19: 55,226,269 (GRCm39) F216I probably benign Het
Herc2 T A 7: 55,820,225 (GRCm39) L2849Q probably damaging Het
Hsd17b4 G T 18: 50,261,381 (GRCm39) probably benign Het
Igkv9-129 T A 6: 67,816,784 (GRCm39) M3K probably damaging Het
Iqcd A T 5: 120,740,485 (GRCm39) E272V probably damaging Het
Itih2 A T 2: 10,111,548 (GRCm39) Y463* probably null Het
Kcna10 G A 3: 107,102,781 (GRCm39) E471K possibly damaging Het
Klf3 A T 5: 64,986,347 (GRCm39) E294V possibly damaging Het
Lancl1 A T 1: 67,060,015 (GRCm39) probably null Het
Ldaf1 T G 7: 119,714,714 (GRCm39) F68V probably damaging Het
Lrig3 T C 10: 125,846,877 (GRCm39) F882L probably benign Het
Man2c1 A G 9: 57,046,367 (GRCm39) N474S probably damaging Het
Map4k3 A G 17: 80,922,444 (GRCm39) probably null Het
Mast1 C A 8: 85,647,520 (GRCm39) W572C probably damaging Het
Mbd4 T A 6: 115,826,076 (GRCm39) Q305L possibly damaging Het
Mbl2 T A 19: 30,216,916 (GRCm39) S243T probably benign Het
Mcph1 C T 8: 18,682,557 (GRCm39) P565S probably benign Het
Mfsd1 G C 3: 67,507,943 (GRCm39) V435L probably benign Het
Mycbp2 C T 14: 103,360,881 (GRCm39) G1183D probably damaging Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Noa1 A T 5: 77,454,219 (GRCm39) S474T probably benign Het
Nrde2 A G 12: 100,096,843 (GRCm39) Y986H probably benign Het
Oca2 G T 7: 56,064,182 (GRCm39) V726F possibly damaging Het
Or2ag13 T A 7: 106,472,580 (GRCm39) S291C probably damaging Het
Or7a41 A T 10: 78,871,244 (GRCm39) M205L probably benign Het
Pip5k1a A G 3: 94,975,370 (GRCm39) probably null Het
Plekhn1 A T 4: 156,309,730 (GRCm39) probably null Het
Skic3 A T 13: 76,303,784 (GRCm39) Y1234F probably damaging Het
Slc25a36 T C 9: 96,967,171 (GRCm39) T131A probably benign Het
Slc5a11 A T 7: 122,857,700 (GRCm39) D263V probably damaging Het
Sorbs1 T C 19: 40,384,189 (GRCm39) I35V probably benign Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tbc1d1 T C 5: 64,331,013 (GRCm39) V64A possibly damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r20 A G 6: 57,409,042 (GRCm39) M123V probably benign Het
Zwint T C 10: 72,492,095 (GRCm39) L59P probably damaging 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
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'- GGTGCCAAACTGTTTCGATTAG -3'
(R):5'- AATGTTGAGGGCTAGGATGC -3'

Sequencing Primer
(F):5'- GCTTGCCCAATGGTAATGATC -3'
(R):5'- CTAGGATGCTCTGAACTGAAGTG -3'
Posted On 2015-07-07