Incidental Mutation 'IGL01746:Sec62'
ID153023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec62
Ensembl Gene ENSMUSG00000027706
Gene NameSEC62 homolog (S. cerevisiae)
Synonyms3100002M17Rik, Dtrp1, Tloc1, HTP1, SEC62
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.824) question?
Stock #IGL01746
Quality Score
Status
Chromosome3
Chromosomal Location30792875-30821263 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 30814246 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 208 (I208K)
Ref Sequence ENSEMBL: ENSMUSP00000029256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029256]
Predicted Effect probably benign
Transcript: ENSMUST00000029256
AA Change: I208K

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000029256
Gene: ENSMUSG00000027706
AA Change: I208K

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 9,004,912 M1187V possibly damaging Het
Ctsm T C 13: 61,539,816 E76G probably benign Het
Ctsm T C 13: 61,538,903 probably benign Het
Egfl8 T C 17: 34,614,916 T63A probably damaging Het
Fat4 T A 3: 38,991,731 C3966* probably null Het
Fsd2 T C 7: 81,553,007 T275A probably benign Het
Fyb2 A T 4: 104,945,207 H102L probably benign Het
Galnt9 T C 5: 110,588,322 I168T probably damaging Het
Hc A G 2: 35,057,326 Y59H probably damaging Het
Khnyn T C 14: 55,886,982 V231A probably benign Het
Larp4b T A 13: 9,158,124 V378E probably damaging Het
Lbx1 A T 19: 45,233,775 S270T possibly damaging Het
Mcm6 G A 1: 128,353,524 R101* probably null Het
Mcph1 T C 8: 18,671,127 L657P probably damaging Het
Ndst2 G T 14: 20,729,414 P253T probably benign Het
Nek4 G A 14: 30,977,584 probably null Het
Nsd1 T A 13: 55,276,515 probably null Het
Oc90 A G 15: 65,889,401 probably benign Het
Plcl2 T A 17: 50,607,696 S578T probably benign Het
Ranbp3l T A 15: 9,063,087 C325* probably null Het
Rps19bp1 T C 15: 80,260,997 Y140C probably damaging Het
Slc25a48 T A 13: 56,470,353 F268I probably damaging Het
Slc35e3 T C 10: 117,744,902 T166A possibly damaging Het
Tmem253 G A 14: 52,017,157 W23* probably null Het
Tmem97 T C 11: 78,542,760 Y103C probably damaging Het
Traf6 A G 2: 101,696,892 E329G possibly damaging Het
Ttll12 A G 15: 83,578,676 F530L probably damaging Het
Ugt3a2 C T 15: 9,361,668 P177S probably damaging Het
Veph1 T C 3: 66,158,087 T520A probably benign Het
Vmn2r98 T A 17: 19,066,451 Y404N probably damaging Het
Other mutations in Sec62
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Sec62 APN 3 30810442 splice site probably benign
IGL01359:Sec62 APN 3 30814306 missense unknown
IGL02437:Sec62 APN 3 30818847 missense unknown
IGL03355:Sec62 APN 3 30809922 missense unknown
R2400:Sec62 UTSW 3 30810532 missense unknown
R4423:Sec62 UTSW 3 30814282 missense unknown
R4649:Sec62 UTSW 3 30810534 missense unknown
R4717:Sec62 UTSW 3 30809871 missense unknown
R4837:Sec62 UTSW 3 30809869 missense unknown
R5775:Sec62 UTSW 3 30793287 utr 5 prime probably benign
R6153:Sec62 UTSW 3 30810482 missense unknown
R6275:Sec62 UTSW 3 30809836 missense probably damaging 0.98
R6734:Sec62 UTSW 3 30810460 missense probably benign 0.39
R7216:Sec62 UTSW 3 30818829 nonsense probably null
R7250:Sec62 UTSW 3 30812347 missense possibly damaging 0.57
R7453:Sec62 UTSW 3 30809796 intron probably null
Posted On2014-02-04