Incidental Mutation 'IGL00481:Sec61a1'
ID 5405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec61a1
Ensembl Gene ENSMUSG00000030082
Gene Name SEC61 translocon subunit alpha 1
Synonyms Sec61a
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL00481
Quality Score
Status
Chromosome 6
Chromosomal Location 88480589-88495782 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 88483922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032168]
AlphaFold P61620
Predicted Effect probably benign
Transcript: ENSMUST00000032168
SMART Domains Protein: ENSMUSP00000032168
Gene: ENSMUSG00000030082

DomainStartEndE-ValueType
Pfam:Plug_translocon 40 74 6.2e-21 PFAM
Pfam:SecY 75 458 3.1e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203181
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203943
Coding Region Coverage
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 belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,969 (GRCm39) L944P probably damaging Het
Akap13 A G 7: 75,373,643 (GRCm39) S1885G probably damaging Het
Aqp3 A G 4: 41,093,632 (GRCm39) Y261H probably damaging Het
Arap2 A T 5: 62,793,305 (GRCm39) N1380K probably damaging Het
Barx2 T C 9: 31,758,141 (GRCm39) I266V unknown Het
BC034090 C T 1: 155,108,267 (GRCm39) R360H probably benign Het
Bmal2 T A 6: 146,711,164 (GRCm39) M56K probably benign Het
Ccnb2 T C 9: 70,326,189 (GRCm39) K52E probably damaging Het
Ccp110 G A 7: 118,329,220 (GRCm39) V868I possibly damaging Het
Cfap300 T C 9: 8,042,432 (GRCm39) Y57C probably damaging Het
Cyld G T 8: 89,433,918 (GRCm39) V236F probably damaging Het
Dst T C 1: 34,208,410 (GRCm39) probably benign Het
Ehmt1 G T 2: 24,728,830 (GRCm39) A637E possibly damaging Het
Erlin1 G T 19: 44,057,758 (GRCm39) Y22* probably null Het
Ezh1 A T 11: 101,090,128 (GRCm39) M539K possibly damaging Het
Fancc A T 13: 63,548,059 (GRCm39) I80N probably damaging Het
Fat1 G A 8: 45,503,977 (GRCm39) S4447N probably benign Het
Fem1al A G 11: 29,774,755 (GRCm39) L234P probably damaging Het
Fhip2a A G 19: 57,369,777 (GRCm39) E440G probably benign Het
Frem3 A G 8: 81,395,439 (GRCm39) Q1822R possibly damaging Het
Iqgap1 C T 7: 80,409,592 (GRCm39) V248I probably benign Het
Itch T C 2: 155,054,943 (GRCm39) I749T probably damaging Het
Kcna10 T A 3: 107,102,830 (GRCm39) M487K probably benign Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Mtmr2 T C 9: 13,697,212 (GRCm39) I84T probably benign Het
Myocd G A 11: 65,077,980 (GRCm39) T477M probably damaging Het
Nfic A T 10: 81,244,054 (GRCm39) V240E possibly damaging Het
Or4d2 A G 11: 87,784,447 (GRCm39) I101T possibly damaging Het
Prkdc A T 16: 15,608,330 (GRCm39) Y3044F probably benign Het
Prkg1 A G 19: 30,549,022 (GRCm39) I636T probably benign Het
Ptpru A G 4: 131,535,546 (GRCm39) V477A probably benign Het
Rab7b T A 1: 131,626,329 (GRCm39) M119K possibly damaging Het
Sectm1b A G 11: 120,946,799 (GRCm39) V32A probably benign Het
Shroom2 A G X: 151,406,219 (GRCm39) S1034P probably benign Het
Sipa1l3 A T 7: 29,085,533 (GRCm39) I688N probably damaging Het
Slc24a1 T C 9: 64,835,301 (GRCm39) Y942C probably damaging Het
Smg1 C T 7: 117,810,017 (GRCm39) R139K possibly damaging Het
Stt3b G A 9: 115,080,915 (GRCm39) T574I probably benign Het
Thoc2 A G X: 40,968,768 (GRCm39) I76T possibly damaging Het
Tpm3 C T 3: 89,995,024 (GRCm39) T180M probably damaging Het
Uqcrfs1 C A 13: 30,724,908 (GRCm39) V211F probably benign Het
Usp47 A G 7: 111,673,990 (GRCm39) S418G probably benign Het
Usp5 T C 6: 124,806,316 (GRCm39) T15A probably benign Het
Vps13c T C 9: 67,768,147 (GRCm39) L122P probably damaging Het
Zfp677 A T 17: 21,617,930 (GRCm39) E329V probably benign Het
Zfyve16 A T 13: 92,653,046 (GRCm39) N846K possibly damaging Het
Zp1 G T 19: 10,896,141 (GRCm39) P195T probably damaging Het
Other mutations in Sec61a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01481:Sec61a1 APN 6 88,483,829 (GRCm39) missense probably benign
R3025:Sec61a1 UTSW 6 88,489,202 (GRCm39) missense probably damaging 0.96
R4230:Sec61a1 UTSW 6 88,492,413 (GRCm39) splice site probably null
R4598:Sec61a1 UTSW 6 88,483,131 (GRCm39) missense probably benign
R6232:Sec61a1 UTSW 6 88,482,150 (GRCm39) missense probably benign 0.29
R7363:Sec61a1 UTSW 6 88,492,533 (GRCm39) missense probably benign 0.00
R7510:Sec61a1 UTSW 6 88,489,585 (GRCm39) missense probably benign 0.04
R7851:Sec61a1 UTSW 6 88,489,147 (GRCm39) missense probably benign 0.01
Posted On 2012-04-20