Incidental Mutation 'R3788:Sec61a2'
ID 473586
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: 0.293) question?
Stock # R3788 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 5875798-5900243 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 5884436 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026926] [ENSMUST00000102981] [ENSMUST00000193792]
AlphaFold Q9JLR1
Predicted Effect probably null
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: 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: ENSMUST00000194565
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (61/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,846,561 (GRCm39) V26E possibly damaging Het
Abhd16a A G 17: 35,320,563 (GRCm39) N411S probably damaging Het
Akap13 G A 7: 75,351,901 (GRCm39) probably null Het
Aph1b T C 9: 66,701,348 (GRCm39) probably benign Het
Aspm C T 1: 139,390,941 (GRCm39) T742I probably damaging Het
Bclaf3 A G X: 158,349,492 (GRCm39) H619R probably benign Het
Bltp2 T A 11: 78,179,123 (GRCm39) probably null Het
Cemip A T 7: 83,593,106 (GRCm39) L1199H probably damaging Het
Chd2 G A 7: 73,096,878 (GRCm39) probably benign Het
Clnk A G 5: 38,872,341 (GRCm39) Y310H probably damaging Het
Crmp1 A G 5: 37,441,484 (GRCm39) D522G probably damaging Het
Cyth3 A G 5: 143,622,298 (GRCm39) probably benign Het
Dcbld1 T A 10: 52,195,754 (GRCm39) Y392N probably damaging Het
Flnc T C 6: 29,454,056 (GRCm39) F1820L probably damaging Het
Galnt18 G A 7: 111,119,322 (GRCm39) R385* probably null Het
Gpatch3 C A 4: 133,302,479 (GRCm39) R137S possibly damaging Het
Gpc6 C T 14: 117,861,878 (GRCm39) P265S probably damaging Het
Harbi1 T A 2: 91,550,952 (GRCm39) D308E probably benign Het
Hdhd2 G A 18: 77,042,883 (GRCm39) probably null Het
Hk1 T C 10: 62,111,467 (GRCm39) K737E possibly damaging Het
Hnrnpr G A 4: 136,063,624 (GRCm39) V345M probably damaging Het
Ift56 T A 6: 38,380,459 (GRCm39) probably null Het
Kalrn T C 16: 34,040,610 (GRCm39) H944R probably damaging Het
Kdm2a A T 19: 4,401,833 (GRCm39) C207S probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt75 C T 15: 101,481,956 (GRCm39) G104D possibly damaging Het
Lnpk A T 2: 74,352,607 (GRCm39) S358R probably benign Het
Map2 A G 1: 66,456,022 (GRCm39) T1512A probably damaging Het
Marchf10 T A 11: 105,287,905 (GRCm39) L132F probably damaging Het
Mfrp G A 9: 44,016,754 (GRCm39) W65* probably null Het
Mgat5 A G 1: 127,294,180 (GRCm39) D174G probably benign Het
Miga2 T A 2: 30,261,237 (GRCm39) Y177* probably null Het
Mroh3 T C 1: 136,113,213 (GRCm39) D747G probably damaging Het
Muc5b A G 7: 141,417,571 (GRCm39) T3506A possibly damaging Het
Myo7b G T 18: 32,107,165 (GRCm39) P1277T possibly damaging Het
Naaa C T 5: 92,420,413 (GRCm39) probably null Het
Ndufs2 T C 1: 171,062,889 (GRCm39) D410G possibly damaging Het
Or51a25 A G 7: 102,372,694 (GRCm39) probably null Het
Or5p78 T A 7: 108,212,280 (GRCm39) Y255* probably null Het
Or7e177 A G 9: 20,211,666 (GRCm39) I58V probably benign Het
Or8g35 A G 9: 39,381,365 (GRCm39) I219T probably benign Het
Osbp A T 19: 11,956,285 (GRCm39) Y409F probably benign Het
Plxnb1 T A 9: 108,938,355 (GRCm39) V1303D possibly damaging Het
Prkcg G A 7: 3,362,263 (GRCm39) D246N probably damaging Het
Ranbp17 GCCTGGATACTGACC GCC 11: 33,169,203 (GRCm39) probably benign Het
Sbf1 G A 15: 89,183,731 (GRCm39) R1261* probably null Het
Scn4a T C 11: 106,235,100 (GRCm39) N341S probably damaging Het
Sgcd T A 11: 47,246,032 (GRCm39) K57* probably null Het
Sinhcaf A G 6: 148,827,617 (GRCm39) S134P possibly damaging Het
Slc12a5 T C 2: 164,835,695 (GRCm39) L861P probably damaging Het
Slc6a16 A G 7: 44,909,386 (GRCm39) D184G probably benign Het
Snx7 A G 3: 117,632,639 (GRCm39) probably benign Het
Sptbn2 A G 19: 4,795,950 (GRCm39) I1710V probably damaging Het
Sytl2 A T 7: 90,025,289 (GRCm39) I426F probably benign Het
Tdp1 A G 12: 99,858,011 (GRCm39) probably benign Het
Tmem232 C A 17: 65,689,628 (GRCm39) D496Y possibly damaging Het
Tomm20l C T 12: 71,158,516 (GRCm39) A58V possibly damaging Het
Ttn T C 2: 76,775,618 (GRCm39) E1854G unknown Het
Ttn A G 2: 76,804,552 (GRCm39) V240A probably benign Het
Vmn2r98 A T 17: 19,300,887 (GRCm39) T630S probably benign Het
Xrcc1 G C 7: 24,266,333 (GRCm39) A220P 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
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
Posted On 2017-04-14