Incidental Mutation 'R8957:Sec62'
ID 682077
Institutional Source Beutler Lab
Gene Symbol Sec62
Ensembl Gene ENSMUSG00000027706
Gene Name SEC62 homolog, preprotein translocation
Synonyms Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik
MMRRC Submission 068793-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.881) question?
Stock # R8957 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 30847025-30875412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30864671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 178 (F178L)
Ref Sequence ENSEMBL: ENSMUSP00000029256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029256]
AlphaFold Q8BU14
Predicted Effect unknown
Transcript: ENSMUST00000029256
AA Change: F178L
SMART Domains Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: F178L

DomainStartEndE-ValueType
Pfam:Sec62 87 311 1.1e-78 PFAM
low complexity region 338 357 N/A INTRINSIC
low complexity region 376 389 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500011B03Rik A G 5: 114,951,891 (GRCm39) V28A probably benign Het
Abca12 T A 1: 71,360,784 (GRCm39) D503V possibly damaging Het
Aco2 A T 15: 81,773,701 (GRCm39) probably benign Het
Aff1 A G 5: 103,981,634 (GRCm39) Q591R possibly damaging Het
Ankle2 G A 5: 110,379,121 (GRCm39) A7T possibly damaging Het
Ankrd12 T C 17: 66,291,491 (GRCm39) N1314S probably benign Het
Apeh A T 9: 107,969,572 (GRCm39) M216K probably benign Het
Armh1 T C 4: 117,087,104 (GRCm39) Y187C probably damaging Het
Ascc3 C A 10: 50,576,208 (GRCm39) A821E probably damaging Het
Atf7ip A G 6: 136,543,701 (GRCm39) D650G probably null Het
Cav1 T A 6: 17,339,235 (GRCm39) F107I probably benign Het
Ccdc146 A G 5: 21,514,585 (GRCm39) probably benign Het
Ccdc57 A G 11: 120,776,861 (GRCm39) I513T probably benign Het
Ccrl2 T C 9: 110,884,557 (GRCm39) R314G probably benign Het
Cd1d1 T C 3: 86,906,140 (GRCm39) D45G probably damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Col4a1 T A 8: 11,295,906 (GRCm39) probably benign Het
Cux2 C T 5: 121,999,011 (GRCm39) G1310R probably benign Het
Cyld G T 8: 89,432,410 (GRCm39) R136L probably damaging Het
Cyp4v3 A T 8: 45,760,018 (GRCm39) N511K probably benign Het
Dchs2 G A 3: 83,189,573 (GRCm39) V1646M Het
Des A T 1: 75,340,295 (GRCm39) I401F probably damaging Het
Dis3 T C 14: 99,337,027 (GRCm39) D28G probably damaging Het
Dnai4 T C 4: 102,953,950 (GRCm39) D83G probably damaging Het
Ehd1 A G 19: 6,344,439 (GRCm39) Y233C probably damaging Het
Fcrlb G A 1: 170,735,536 (GRCm39) A246V probably benign Het
Firrm C T 1: 163,792,335 (GRCm39) R554H probably damaging Het
Fnta T C 8: 26,489,541 (GRCm39) R357G probably benign Het
Fpgs T C 2: 32,575,354 (GRCm39) D420G probably damaging Het
Hdac4 T C 1: 91,873,757 (GRCm39) probably null Het
Hdhd5 C T 6: 120,495,404 (GRCm39) probably null Het
Iqgap2 G A 13: 95,772,154 (GRCm39) R1342C probably damaging Het
Isyna1 T G 8: 71,049,372 (GRCm39) L428R probably damaging Het
Jmjd4 C T 11: 59,340,884 (GRCm39) probably benign Het
Klra1 A G 6: 130,357,609 (GRCm39) V6A possibly damaging Het
Klrb1b T A 6: 128,795,522 (GRCm39) K124N probably benign Het
Krtap19-3 T C 16: 88,674,833 (GRCm39) probably benign Het
Lrrc74b T C 16: 17,378,976 (GRCm39) T34A probably benign Het
Map9 A G 3: 82,278,687 (GRCm39) Y229C probably benign Het
Mmp28 T C 11: 83,334,636 (GRCm39) I373V possibly damaging Het
Mpdz A T 4: 81,251,216 (GRCm39) Y1086* probably null Het
Myct1 C T 10: 5,554,208 (GRCm39) T25I probably damaging Het
Myh4 A G 11: 67,141,780 (GRCm39) K880E possibly damaging Het
Nav2 T G 7: 49,220,964 (GRCm39) V1656G probably damaging Het
Or12d13 A G 17: 37,647,382 (GRCm39) V247A probably damaging Het
Or1a1 T A 11: 74,086,772 (GRCm39) S148T probably damaging Het
Or5b101 T A 19: 13,004,881 (GRCm39) I271F probably benign Het
Pate2 T C 9: 35,596,911 (GRCm39) W100R probably benign Het
Pcdhb11 A C 18: 37,554,692 (GRCm39) K7N probably benign Het
Pcdhb11 A G 18: 37,555,872 (GRCm39) T401A probably benign Het
Pgam1 T A 19: 41,905,215 (GRCm39) I183N possibly damaging Het
Pou5f1 T G 17: 35,821,366 (GRCm39) L326R possibly damaging Het
Rbm34 A C 8: 127,692,208 (GRCm39) V178G probably benign Het
Rc3h2 A G 2: 37,289,660 (GRCm39) V384A possibly damaging Het
Slco1a6 T C 6: 142,091,493 (GRCm39) N69S probably damaging Het
Smok2b T A 17: 13,453,873 (GRCm39) L11Q probably damaging Het
Snai2 T C 16: 14,526,113 (GRCm39) S255P probably damaging Het
Spata31h1 A G 10: 82,124,908 (GRCm39) Y2701H probably benign Het
Tesk2 T A 4: 116,659,910 (GRCm39) F343I probably benign Het
Tmem106c A T 15: 97,867,481 (GRCm39) I222F probably benign Het
Tmub1 G T 5: 24,651,775 (GRCm39) T63K probably benign Het
Tnip3 A G 6: 65,582,843 (GRCm39) T217A probably benign Het
Vmn2r10 T G 5: 109,149,780 (GRCm39) K421N possibly damaging Het
Zfp975 A T 7: 42,311,157 (GRCm39) H485Q probably damaging Het
Other mutations in Sec62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Sec62 APN 3 30,864,591 (GRCm39) splice site probably benign
IGL01359:Sec62 APN 3 30,868,455 (GRCm39) missense unknown
IGL01746:Sec62 APN 3 30,868,395 (GRCm39) missense probably benign 0.39
IGL02437:Sec62 APN 3 30,872,996 (GRCm39) missense unknown
IGL03355:Sec62 APN 3 30,864,071 (GRCm39) missense unknown
R2400:Sec62 UTSW 3 30,864,681 (GRCm39) missense unknown
R4423:Sec62 UTSW 3 30,868,431 (GRCm39) missense unknown
R4649:Sec62 UTSW 3 30,864,683 (GRCm39) missense unknown
R4717:Sec62 UTSW 3 30,864,020 (GRCm39) missense unknown
R4837:Sec62 UTSW 3 30,864,018 (GRCm39) missense unknown
R5775:Sec62 UTSW 3 30,847,436 (GRCm39) utr 5 prime probably benign
R6153:Sec62 UTSW 3 30,864,631 (GRCm39) missense unknown
R6275:Sec62 UTSW 3 30,863,985 (GRCm39) missense probably damaging 0.98
R6734:Sec62 UTSW 3 30,864,609 (GRCm39) missense probably benign 0.39
R7216:Sec62 UTSW 3 30,872,978 (GRCm39) nonsense probably null
R7250:Sec62 UTSW 3 30,866,496 (GRCm39) missense possibly damaging 0.57
R7453:Sec62 UTSW 3 30,863,945 (GRCm39) splice site probably null
R8411:Sec62 UTSW 3 30,872,931 (GRCm39) missense unknown
R8537:Sec62 UTSW 3 30,872,961 (GRCm39) missense unknown
R8769:Sec62 UTSW 3 30,864,177 (GRCm39) critical splice donor site probably null
R8856:Sec62 UTSW 3 30,847,506 (GRCm39) missense possibly damaging 0.54
R8907:Sec62 UTSW 3 30,864,621 (GRCm39) missense unknown
R8969:Sec62 UTSW 3 30,873,024 (GRCm39) missense unknown
R9089:Sec62 UTSW 3 30,868,383 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- AGCCATGTGAGATACCTGCC -3'
(R):5'- ATGGTGATTCATGCCTGTGC -3'

Sequencing Primer
(F):5'- CCTGCCATGATTATTTGTAAACACCG -3'
(R):5'- CATTCCTAGAGCATGCTACTGAG -3'
Posted On 2021-08-31