Incidental Mutation 'R0413:Sec61a2'
ID 36753
Institutional Source Beutler Lab
Gene Symbol Sec61a2
Ensembl Gene ENSMUSG00000025816
Gene Name SEC61 translocon subunit alpha 2
Synonyms
MMRRC Submission 038615-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.293) question?
Stock # R0413 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 5875798-5900243 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 5881165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:NUDIX 57 191 1.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102981
SMART Domains Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000153240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148745
Predicted Effect probably benign
Transcript: ENSMUST00000193792
SMART Domains Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 99% (99/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,158,355 (GRCm39) probably benign Het
Adh1 C T 3: 137,986,193 (GRCm39) T60I probably benign Het
Agtpbp1 T A 13: 59,661,966 (GRCm39) I282F probably damaging Het
Arih2 G T 9: 108,493,916 (GRCm39) Q166K probably damaging Het
Cacna1s A G 1: 136,025,947 (GRCm39) T1031A probably benign Het
Ccdc102a C A 8: 95,629,914 (GRCm39) E542D probably benign Het
Cdk1 T C 10: 69,180,929 (GRCm39) I94V probably benign Het
Cep290 C T 10: 100,359,176 (GRCm39) Q969* probably null Het
Cilp2 A G 8: 70,335,643 (GRCm39) S452P probably benign Het
Col12a1 T C 9: 79,606,642 (GRCm39) T594A probably damaging Het
Cpox A G 16: 58,491,232 (GRCm39) T148A possibly damaging Het
Csf3r A G 4: 125,933,460 (GRCm39) probably benign Het
Csmd1 A T 8: 16,760,530 (GRCm39) C202S probably damaging Het
Dlgap4 T C 2: 156,604,746 (GRCm39) S261P probably damaging Het
Dnah9 T A 11: 65,998,961 (GRCm39) Y1029F probably damaging Het
Dok5 T C 2: 170,671,880 (GRCm39) probably benign Het
Dusp11 A T 6: 85,929,352 (GRCm39) probably benign Het
Edar T C 10: 58,465,262 (GRCm39) N34D probably benign Het
Efcab7 C T 4: 99,766,943 (GRCm39) T56I probably damaging Het
Entpd1 G A 19: 40,699,729 (GRCm39) V47I probably benign Het
Ephx4 A G 5: 107,551,601 (GRCm39) N62S probably benign Het
Etaa1 A T 11: 17,896,350 (GRCm39) L589* probably null Het
Fam135b T A 15: 71,335,670 (GRCm39) N508I probably benign Het
Fam193a T C 5: 34,623,552 (GRCm39) V27A possibly damaging Het
Fmnl1 A G 11: 103,084,889 (GRCm39) probably benign Het
Fstl1 A C 16: 37,641,516 (GRCm39) probably null Het
Gbp4 G A 5: 105,268,972 (GRCm39) R394C possibly damaging Het
Gemin4 T C 11: 76,102,148 (GRCm39) Y871C probably benign Het
Get1 T G 16: 95,954,217 (GRCm39) S105R probably benign Het
Gm7247 T C 14: 51,760,929 (GRCm39) V166A probably benign Het
Gpcpd1 A T 2: 132,406,543 (GRCm39) probably benign Het
Gpnmb A G 6: 49,019,737 (GRCm39) D36G probably benign Het
Ido2 C T 8: 25,048,159 (GRCm39) probably null Het
Igfn1 G A 1: 135,895,334 (GRCm39) T1744I probably benign Het
Inf2 T G 12: 112,568,110 (GRCm39) F221V probably damaging Het
Itga10 T A 3: 96,556,375 (GRCm39) I170N probably damaging Het
Lrp6 A T 6: 134,484,587 (GRCm39) D345E probably damaging Het
Macf1 A T 4: 123,366,062 (GRCm39) S2900T probably benign Het
Med13 C A 11: 86,190,033 (GRCm39) probably benign Het
Morc3 T C 16: 93,667,362 (GRCm39) V507A probably damaging Het
Myadm AC ACC 7: 3,345,276 (GRCm39) probably null Het
Myl6 C T 10: 128,328,091 (GRCm39) probably benign Het
Mylk T C 16: 34,742,314 (GRCm39) V942A probably benign Het
Myorg G T 4: 41,498,585 (GRCm39) H348Q probably benign Het
Ncdn G T 4: 126,644,327 (GRCm39) T165K possibly damaging Het
Ncf1 T C 5: 134,251,656 (GRCm39) probably benign Het
Neb T C 2: 52,180,751 (GRCm39) probably benign Het
Nid1 T A 13: 13,656,681 (GRCm39) I604N probably benign Het
Nsrp1 T C 11: 76,936,997 (GRCm39) R400G probably benign Het
Nup43 T G 10: 7,546,791 (GRCm39) I137S probably benign Het
Nynrin A G 14: 56,109,648 (GRCm39) N1585S possibly damaging Het
Obscn T A 11: 58,893,823 (GRCm39) Y6748F probably benign Het
Omg A G 11: 79,393,661 (GRCm39) S66P possibly damaging Het
Or13a27 A T 7: 139,925,108 (GRCm39) S265T possibly damaging Het
Or2y1d T C 11: 49,322,212 (GRCm39) V303A possibly damaging Het
Or4c15 A G 2: 88,759,906 (GRCm39) V251A probably benign Het
Or51b6b A T 7: 103,309,957 (GRCm39) F167I possibly damaging Het
Or52z1 A G 7: 103,437,362 (GRCm39) Y41H probably damaging Het
Or5ak22 T C 2: 85,230,019 (GRCm39) N286S probably damaging Het
Or8g27 A G 9: 39,129,566 (GRCm39) I304M probably benign Het
Or8k24 G A 2: 86,216,058 (GRCm39) R235C probably benign Het
Ormdl1 C T 1: 53,347,978 (GRCm39) probably benign Het
Ovch2 T A 7: 107,381,243 (GRCm39) I552L probably benign Het
Pcare T G 17: 72,059,212 (GRCm39) D155A probably benign Het
Pcsk9 G T 4: 106,311,538 (GRCm39) T231N probably damaging Het
Pgpep1 T C 8: 71,110,100 (GRCm39) N22S probably damaging Het
Plb1 T C 5: 32,512,706 (GRCm39) F1355L probably damaging Het
Plcg1 G T 2: 160,603,349 (GRCm39) L1173F probably damaging Het
Plch2 A T 4: 155,091,373 (GRCm39) probably null Het
Ppp1r3g T A 13: 36,153,331 (GRCm39) F250L probably damaging Het
Prkcg A G 7: 3,368,095 (GRCm39) I381V probably benign Het
Pum2 C T 12: 8,763,464 (GRCm39) A207V probably benign Het
Rabac1 T C 7: 24,669,607 (GRCm39) E166G probably damaging Het
Rad21l G A 2: 151,493,851 (GRCm39) S450L probably benign Het
Rangap1 ACACTCA ACA 15: 81,600,876 (GRCm39) probably null Het
Reg3b G T 6: 78,348,824 (GRCm39) C40F probably damaging Het
Rfx2 A G 17: 57,091,418 (GRCm39) probably benign Het
Rrp15 G A 1: 186,481,346 (GRCm39) probably benign Het
Schip1 G T 3: 68,401,946 (GRCm39) G36C probably damaging Het
Sema5a A G 15: 32,669,590 (GRCm39) K705E probably damaging Het
Setx A G 2: 29,029,290 (GRCm39) Y186C probably damaging Het
Slc22a23 T C 13: 34,367,115 (GRCm39) E631G probably damaging Het
Slc5a5 T C 8: 71,344,319 (GRCm39) T134A possibly damaging Het
Stx7 T C 10: 24,057,492 (GRCm39) S173P probably damaging Het
Sybu T C 15: 44,536,668 (GRCm39) T353A probably damaging Het
Syde2 T A 3: 145,712,887 (GRCm39) N1008K probably damaging Het
Tiam1 T C 16: 89,606,253 (GRCm39) probably benign Het
Timm10b G A 7: 105,327,537 (GRCm39) E61K probably benign Het
Tm2d1 A G 4: 98,253,810 (GRCm39) I121T probably damaging Het
Trim75 T C 8: 65,435,892 (GRCm39) E186G probably benign Het
Tti1 T C 2: 157,837,396 (GRCm39) K895E probably benign Het
Vmn1r43 A G 6: 89,846,830 (GRCm39) S219P probably damaging Het
Vmn2r73 A T 7: 85,521,087 (GRCm39) S294T possibly damaging Het
Vmn2r94 A T 17: 18,464,080 (GRCm39) F737I probably damaging Het
Vsx2 A T 12: 84,616,777 (GRCm39) T21S probably benign Het
Zfp462 G T 4: 55,010,534 (GRCm39) R833S probably damaging Het
Zfpl1 G A 19: 6,132,482 (GRCm39) P143L 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
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
Predicted Primers PCR Primer
(F):5'- ACGCAAGCTGCTTTATTGCCATTC -3'
(R):5'- ACTTGCCCATTAAGTCGGCACG -3'

Sequencing Primer
(F):5'- acaaacagagaaggaggcag -3'
(R):5'- GGTATCGTGGACAGTACAGTAGC -3'
Posted On 2013-05-09