Incidental Mutation 'R8969:Sec62'
ID 682915
Institutional Source Beutler Lab
Gene Symbol Sec62
Ensembl Gene ENSMUSG00000027706
Gene Name SEC62 homolog, preprotein translocation
Synonyms Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik
MMRRC Submission 068803-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.881) question?
Stock # R8969 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 30847025-30875412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30873024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 369 (E369G)
Ref Sequence ENSEMBL: ENSMUSP00000029256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029256]
AlphaFold Q8BU14
Predicted Effect unknown
Transcript: ENSMUST00000029256
AA Change: E369G
SMART Domains Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: E369G

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
Meta Mutation Damage Score 0.0858 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (77/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,227,944 (GRCm39) N662K probably benign Het
Acp7 G A 7: 28,307,382 (GRCm39) R492W probably damaging Het
Adam33 C T 2: 130,894,994 (GRCm39) G688D probably damaging Het
Ak3 T G 19: 29,025,094 (GRCm39) M46L probably benign Het
Aldh1l1 A G 6: 90,547,790 (GRCm39) T417A probably benign Het
Ambp C T 4: 63,072,328 (GRCm39) probably benign Het
Arhgef11 T C 3: 87,632,949 (GRCm39) S687P probably damaging Het
Ash1l T C 3: 88,873,598 (GRCm39) M127T possibly damaging Het
Atg9b C T 5: 24,592,832 (GRCm39) A524T probably benign Het
Btbd10 A T 7: 112,925,162 (GRCm39) S277T probably damaging Het
Ccdc167 T C 17: 29,924,553 (GRCm39) D16G probably damaging Het
Cdh12 A G 15: 21,492,739 (GRCm39) T253A probably damaging Het
Cfap206 A T 4: 34,692,522 (GRCm39) D501E probably benign Het
Chrnb2 A G 3: 89,664,532 (GRCm39) F461L probably damaging Het
Clic1 T C 17: 35,274,386 (GRCm39) probably null Het
Cmah A G 13: 24,606,636 (GRCm39) Y89C probably damaging Het
Crkl A G 16: 17,286,918 (GRCm39) E158G probably damaging Het
Cyp3a59 A T 5: 146,049,630 (GRCm39) E486V probably benign Het
D16Ertd472e T G 16: 78,344,682 (GRCm39) Y142S probably damaging Het
Decr2 T A 17: 26,306,355 (GRCm39) M94L probably benign Het
Dspp A T 5: 104,325,640 (GRCm39) S668C unknown Het
Dync2h1 T C 9: 7,130,723 (GRCm39) R1708G probably damaging Het
Eno3 T A 11: 70,551,691 (GRCm39) I217N possibly damaging Het
Fcho2 A T 13: 98,891,604 (GRCm39) L386* probably null Het
Gm5114 C A 7: 39,058,732 (GRCm39) V296F probably damaging Het
Hc A G 2: 34,909,475 (GRCm39) probably null Het
Helz2 A G 2: 180,879,581 (GRCm39) V679A probably benign Het
Ifnar2 T C 16: 91,201,060 (GRCm39) F434L probably benign Het
Isl1 A G 13: 116,439,857 (GRCm39) S164P possibly damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Kat2b T A 17: 53,967,116 (GRCm39) Y621* probably null Het
Kif2b T C 11: 91,468,019 (GRCm39) H88R probably benign Het
Kit G A 5: 75,799,722 (GRCm39) V485I Het
Klhl36 T C 8: 120,596,887 (GRCm39) L196P probably damaging Het
Klk1b27 T A 7: 43,703,932 (GRCm39) I25K probably damaging Het
Kmt2c T A 5: 25,519,387 (GRCm39) Q2241L possibly damaging Het
Krt10 T A 11: 99,278,434 (GRCm39) N242Y probably damaging Het
Krt36 T A 11: 99,993,129 (GRCm39) I449F probably damaging Het
Med27 G T 2: 29,236,875 (GRCm39) V7F possibly damaging Het
Mettl25b G A 3: 87,837,282 (GRCm39) probably benign Het
Mxd1 C T 6: 86,628,466 (GRCm39) V145M probably benign Het
Mylip T A 13: 45,544,820 (GRCm39) F81L probably damaging Het
Nceh1 T A 3: 27,276,885 (GRCm39) F69L probably null Het
Ndufs3 A T 2: 90,732,773 (GRCm39) N104K probably damaging Het
Nfxl1 A C 5: 72,716,473 (GRCm39) V46G unknown Het
Or51a39 T C 7: 102,363,558 (GRCm39) T21A probably benign Het
Or51f1e T G 7: 102,747,251 (GRCm39) I101S probably damaging Het
Or5as1 T A 2: 86,980,928 (GRCm39) M26L probably benign Het
Or5m10b A G 2: 85,699,832 (GRCm39) N299D probably benign Het
Palld T A 8: 62,137,883 (GRCm39) H624L probably damaging Het
Pcbp2 T G 15: 102,399,214 (GRCm39) L343R probably damaging Het
Pclo T A 5: 14,572,208 (GRCm39) I531N unknown Het
Phip T C 9: 82,809,017 (GRCm39) probably benign Het
Phldb2 A T 16: 45,592,496 (GRCm39) probably null Het
Ppp2r5e G T 12: 75,500,492 (GRCm39) T467N possibly damaging Het
Ptcd3 T C 6: 71,880,431 (GRCm39) I97M probably benign Het
Ptpn21 T A 12: 98,655,284 (GRCm39) Q561L probably benign Het
Rnf38 A T 4: 44,149,079 (GRCm39) H121Q possibly damaging Het
Sec1 A G 7: 45,328,897 (GRCm39) F50S possibly damaging Het
Serpinb2 A T 1: 107,452,390 (GRCm39) I323F probably damaging Het
Sh3rf1 A C 8: 61,837,860 (GRCm39) T802P probably benign Het
Srd5a3 A G 5: 76,301,493 (GRCm39) R241G probably benign Het
Suox T C 10: 128,507,542 (GRCm39) N162S probably benign Het
Tenm2 C T 11: 35,942,688 (GRCm39) C1327Y probably damaging Het
Terf2ip A G 8: 112,738,370 (GRCm39) D86G probably damaging Het
Tmc1 G A 19: 20,793,593 (GRCm39) R523C probably damaging Het
Tmprss11e T A 5: 86,861,758 (GRCm39) I263L possibly damaging Het
Tmtc4 T C 14: 123,179,224 (GRCm39) probably benign Het
Tnfrsf22 T A 7: 143,192,173 (GRCm39) N171I unknown Het
Trpm3 A G 19: 22,903,308 (GRCm39) S1035G probably damaging Het
U2af1 C T 17: 31,867,854 (GRCm39) V72M possibly damaging Het
Uimc1 A G 13: 55,233,447 (GRCm39) C70R possibly damaging Het
Vmn2r83 A G 10: 79,313,853 (GRCm39) T154A probably benign Het
Xrn2 T C 2: 146,871,304 (GRCm39) I302T probably damaging Het
Zbtb6 A G 2: 37,318,677 (GRCm39) L417P probably damaging Het
Zdhhc14 C T 17: 5,775,555 (GRCm39) S269L probably benign Het
Zfp735 T A 11: 73,602,699 (GRCm39) F548I possibly damaging Het
Zfp809 T C 9: 22,137,130 (GRCm39) probably null Het
Zranb3 A T 1: 127,888,588 (GRCm39) D832E possibly 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
R8957:Sec62 UTSW 3 30,864,671 (GRCm39) missense unknown
R9089:Sec62 UTSW 3 30,868,383 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- TCCGACAGTGAGGAAAAGTC -3'
(R):5'- ACAAAAGGCTGACTGTAACTGAATG -3'

Sequencing Primer
(F):5'- CAGTGAGGAAAAGTCAGACAGTG -3'
(R):5'- GAATGCTACAAATGCCATCTGTAC -3'
Posted On 2021-10-11