Incidental Mutation 'IGL02437:Sec62'
ID 293324
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec62
Ensembl Gene ENSMUSG00000027706
Gene Name SEC62 homolog, preprotein translocation
Synonyms Tloc1, Dtrp1, HTP1, SEC62, 3100002M17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.881) question?
Stock # IGL02437
Quality Score
Status
Chromosome 3
Chromosomal Location 30847025-30875412 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30872996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 360 (G360R)
Ref Sequence ENSEMBL: ENSMUSP00000029256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029256]
AlphaFold Q8BU14
Predicted Effect unknown
Transcript: ENSMUST00000029256
AA Change: G360R
SMART Domains Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: G360R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195072
Coding Region Coverage
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca16 T G 7: 120,132,952 (GRCm39) C1294G probably benign Het
Abca7 T A 10: 79,844,223 (GRCm39) S1410T probably damaging Het
Abhd12 T C 2: 150,676,289 (GRCm39) D356G probably benign Het
BC004004 T C 17: 29,517,671 (GRCm39) L295P probably damaging Het
Bpifc T C 10: 85,824,595 (GRCm39) S215G probably damaging Het
Bptf C T 11: 106,965,521 (GRCm39) M1109I probably benign Het
Brat1 C T 5: 140,698,563 (GRCm39) A245V possibly damaging Het
Cask G A X: 13,403,860 (GRCm39) T16I probably damaging Het
Cemip2 T C 19: 21,789,342 (GRCm39) probably null Het
Cibar2 T C 8: 120,901,525 (GRCm39) E60G probably damaging Het
Clic6 A T 16: 92,327,817 (GRCm39) I541F probably damaging Het
Clnk C T 5: 38,931,909 (GRCm39) probably null Het
Cntnap1 T A 11: 101,077,677 (GRCm39) I1113N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp26a1 T C 19: 37,686,943 (GRCm39) S132P probably benign Het
Cyp4f13 G T 17: 33,149,582 (GRCm39) H85N probably benign Het
Dcaf15 C T 8: 84,828,445 (GRCm39) G215D probably damaging Het
Dip2a T C 10: 76,134,101 (GRCm39) T500A probably benign Het
Gbe1 T A 16: 70,231,546 (GRCm39) probably benign Het
Gli2 T A 1: 118,763,733 (GRCm39) I1473F probably damaging Het
Gm5129 A T 5: 29,940,861 (GRCm39) probably benign Het
Hdgf C T 3: 87,821,792 (GRCm39) R168C probably damaging Het
Heph A G X: 95,516,633 (GRCm39) T342A probably benign Het
Kdelr3 T C 15: 79,409,988 (GRCm39) Y158H probably damaging Het
Lamb3 C T 1: 193,010,253 (GRCm39) R289C probably damaging Het
Leng8 C T 7: 4,145,092 (GRCm39) A164V probably damaging Het
Ltn1 T C 16: 87,194,889 (GRCm39) T1337A probably benign Het
Mast3 C A 8: 71,233,202 (GRCm39) R316L possibly damaging Het
Nampt A G 12: 32,880,215 (GRCm39) Y36C probably damaging Het
Ncapd3 T A 9: 26,975,264 (GRCm39) probably benign Het
Nipbl T C 15: 8,388,558 (GRCm39) D354G probably damaging Het
Nsd1 A T 13: 55,461,254 (GRCm39) R2494W probably damaging Het
Nt5c1a A G 4: 123,108,034 (GRCm39) N239S probably benign Het
Ogfr A G 2: 180,231,329 (GRCm39) E19G possibly damaging Het
Or11h4b A T 14: 50,918,657 (GRCm39) S145T probably benign Het
Or4c58 A G 2: 89,675,128 (GRCm39) L63P probably damaging Het
Pcna A T 2: 132,093,155 (GRCm39) probably benign Het
Pdia3 T A 2: 121,264,129 (GRCm39) V326E probably damaging Het
Phf8 T A X: 150,414,356 (GRCm39) L1002Q possibly damaging Het
Rhobtb2 T C 14: 70,033,365 (GRCm39) E535G probably damaging Het
Rusc2 G T 4: 43,415,545 (GRCm39) D284Y probably damaging Het
Samd8 A G 14: 21,825,491 (GRCm39) Y212C probably benign Het
Sash3 C A X: 47,247,672 (GRCm39) Q169K probably benign Het
Scyl1 C T 19: 5,816,224 (GRCm39) G324S probably damaging Het
Sis T C 3: 72,826,947 (GRCm39) probably null Het
Slc6a1 T A 6: 114,285,578 (GRCm39) I338N probably damaging Het
Snrnp200 A G 2: 127,058,030 (GRCm39) D264G probably damaging Het
Tgm3 G T 2: 129,871,961 (GRCm39) probably null Het
Tnrc6b T G 15: 80,764,658 (GRCm39) L720R probably damaging Het
Tspyl4 A T 10: 34,174,228 (GRCm39) Q240L probably damaging Het
Tube1 G A 10: 39,016,846 (GRCm39) V80I probably damaging Het
Uap1l1 C T 2: 25,253,945 (GRCm39) V304M probably damaging Het
Wtap T C 17: 13,186,620 (GRCm39) N309S probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfyve26 T C 12: 79,315,621 (GRCm39) D1285G probably benign Het
Zscan20 G A 4: 128,482,210 (GRCm39) T484I 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
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
R8969:Sec62 UTSW 3 30,873,024 (GRCm39) missense unknown
R9089:Sec62 UTSW 3 30,868,383 (GRCm39) missense probably benign 0.39
Posted On 2015-04-16