Incidental Mutation 'R3025:Sec61a1'
ID 265797
Institutional Source Beutler Lab
Gene Symbol Sec61a1
Ensembl Gene ENSMUSG00000030082
Gene Name SEC61 translocon subunit alpha 1
Synonyms Sec61a
MMRRC Submission 040541-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # R3025 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 88480589-88495782 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88489202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 166 (D166E)
Ref Sequence ENSEMBL: ENSMUSP00000032168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032168]
AlphaFold P61620
Predicted Effect probably damaging
Transcript: ENSMUST00000032168
AA Change: D166E

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032168
Gene: ENSMUSG00000030082
AA Change: D166E

DomainStartEndE-ValueType
Pfam:Plug_translocon 40 74 6.2e-21 PFAM
Pfam:SecY 75 458 3.1e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139676
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203200
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,864,919 (GRCm39) probably null Het
Akap6 A G 12: 53,186,926 (GRCm39) T1447A probably benign Het
Atp13a2 C T 4: 140,721,659 (GRCm39) R250C probably damaging Het
Cacna1a T A 8: 85,306,854 (GRCm39) probably null Het
Chd6 GATCAT GAT 2: 160,808,472 (GRCm39) probably benign Het
Cptp T C 4: 155,951,678 (GRCm39) E5G possibly damaging Het
Dnajc16 C A 4: 141,501,922 (GRCm39) V303F probably benign Het
Gm10842 T C 11: 105,037,902 (GRCm39) S62P unknown Het
Gm17509 T C 13: 117,357,112 (GRCm39) probably benign Het
Homer1 C T 13: 93,538,582 (GRCm39) Q142* probably null Het
Kcnb2 C A 1: 15,781,059 (GRCm39) Q644K possibly damaging Het
Map3k19 T C 1: 127,766,290 (GRCm39) probably null Het
Msh4 T A 3: 153,569,128 (GRCm39) H621L probably damaging Het
Ogfod1 A T 8: 94,789,680 (GRCm39) E460D probably damaging Het
Or6c65 T A 10: 129,603,542 (GRCm39) F59Y probably damaging Het
Or8k41 A T 2: 86,314,083 (GRCm39) M1K probably null Het
Rp1 G A 1: 4,422,898 (GRCm39) R61W probably damaging Het
Scaf4 A T 16: 90,048,826 (GRCm39) H329Q unknown Het
Tars2 C T 3: 95,654,952 (GRCm39) R63H possibly damaging Het
Vmn1r57 A T 7: 5,223,714 (GRCm39) K80* probably null Het
Vmn2r106 A G 17: 20,499,147 (GRCm39) W255R probably benign Het
Wdr49 C G 3: 75,240,663 (GRCm39) C402S possibly damaging Het
Other mutations in Sec61a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Sec61a1 APN 6 88,483,922 (GRCm39) splice site probably benign
IGL01481:Sec61a1 APN 6 88,483,829 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TGGATGCACAGCAAAACCAG -3'
(R):5'- TGCCCTTGTTAAGAGCAGATG -3'

Sequencing Primer
(F):5'- AAAACCAGGAGCTTGTGCCTTTG -3'
(R):5'- CCCTTGTTAAGAGCAGATGAAGGC -3'
Posted On 2015-02-05