Incidental Mutation 'IGL03493:Sec63'
ID 490720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec63
Ensembl Gene ENSMUSG00000019802
Gene Name SEC63 homolog, protein translocation regulator
Synonyms 5730478J10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03493
Quality Score
Status
Chromosome 10
Chromosomal Location 42637492-42708510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 42704937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 730 (D730E)
Ref Sequence ENSEMBL: ENSMUSP00000019937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019937]
AlphaFold Q8VHE0
Predicted Effect probably benign
Transcript: ENSMUST00000019937
AA Change: D730E

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000019937
Gene: ENSMUSG00000019802
AA Change: D730E

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
DnaJ 103 157 6.14e-23 SMART
Blast:Sec63 170 208 9e-6 BLAST
Sec63 219 714 6.98e-10 SMART
low complexity region 734 760 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155410
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 SEC62 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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart1 G A 4: 72,769,884 (GRCm39) T253I probably damaging Het
Ampd2 T C 3: 107,982,674 (GRCm39) E694G probably damaging Het
Atcay C A 10: 81,046,407 (GRCm39) E306* probably null Het
Atp13a5 G T 16: 29,116,342 (GRCm39) D546E probably benign Het
C2cd2 T C 16: 97,682,861 (GRCm39) D125G probably damaging Het
Col23a1 T C 11: 51,455,632 (GRCm39) probably null Het
Col9a1 T A 1: 24,260,651 (GRCm39) probably benign Het
Cyp4a31 T A 4: 115,427,952 (GRCm39) probably null Het
Dnah11 G A 12: 117,976,533 (GRCm39) R2708C probably benign Het
Dzip3 T C 16: 48,772,059 (GRCm39) I537V probably benign Het
Ezh1 T C 11: 101,094,617 (GRCm39) T392A probably benign Het
Hsd17b14 A T 7: 45,205,515 (GRCm39) D42V probably damaging Het
Hsf2 A T 10: 57,381,462 (GRCm39) I294F probably damaging Het
Ibtk G T 9: 85,600,972 (GRCm39) S797R probably benign Het
Kif20b T A 19: 34,936,950 (GRCm39) C183* probably null Het
Lnpep G T 17: 17,799,433 (GRCm39) A74E probably damaging Het
Map4k1 A T 7: 28,683,576 (GRCm39) probably benign Het
Matn1 A G 4: 130,677,309 (GRCm39) R173G probably benign Het
Nyap1 A G 5: 137,733,278 (GRCm39) I585T probably damaging Het
Or13a27 A T 7: 139,925,066 (GRCm39) Y279N probably damaging Het
Or52e7 A G 7: 104,685,151 (GRCm39) T249A probably damaging Het
Or5d39 G A 2: 87,980,280 (GRCm39) P28S probably benign Het
Phactr2 A G 10: 13,133,413 (GRCm39) V190A probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Rad51c A T 11: 87,288,579 (GRCm39) H201Q probably benign Het
Smarcc2 A G 10: 128,297,226 (GRCm39) I39M probably damaging Het
Trav2 A G 14: 52,804,745 (GRCm39) probably benign Het
Ugt3a1 A G 15: 9,361,569 (GRCm39) Y115C probably damaging Het
Zfp955b T G 17: 33,521,519 (GRCm39) H329Q probably benign Het
Other mutations in Sec63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Sec63 APN 10 42,688,453 (GRCm39) missense possibly damaging 0.56
IGL02111:Sec63 APN 10 42,686,884 (GRCm39) missense probably damaging 1.00
IGL02457:Sec63 APN 10 42,677,729 (GRCm39) splice site probably benign
IGL02613:Sec63 APN 10 42,677,703 (GRCm39) missense probably damaging 1.00
IGL03002:Sec63 APN 10 42,686,905 (GRCm39) missense possibly damaging 0.51
cyst UTSW 10 42,704,861 (GRCm39) splice site probably null
stillwater UTSW 10 42,679,901 (GRCm39) missense probably damaging 1.00
R0233:Sec63 UTSW 10 42,699,904 (GRCm39) missense possibly damaging 0.48
R0233:Sec63 UTSW 10 42,699,904 (GRCm39) missense possibly damaging 0.48
R0234:Sec63 UTSW 10 42,674,794 (GRCm39) missense probably damaging 0.98
R0234:Sec63 UTSW 10 42,674,794 (GRCm39) missense probably damaging 0.98
R0538:Sec63 UTSW 10 42,674,795 (GRCm39) missense probably benign 0.01
R0734:Sec63 UTSW 10 42,672,204 (GRCm39) missense probably benign 0.08
R0906:Sec63 UTSW 10 42,677,924 (GRCm39) missense probably damaging 0.98
R1136:Sec63 UTSW 10 42,682,542 (GRCm39) missense probably damaging 1.00
R1665:Sec63 UTSW 10 42,674,724 (GRCm39) splice site probably null
R1736:Sec63 UTSW 10 42,703,914 (GRCm39) nonsense probably null
R1961:Sec63 UTSW 10 42,699,882 (GRCm39) missense probably damaging 1.00
R2696:Sec63 UTSW 10 42,659,522 (GRCm39) missense probably benign 0.05
R4886:Sec63 UTSW 10 42,665,389 (GRCm39) nonsense probably null
R4908:Sec63 UTSW 10 42,681,186 (GRCm39) missense probably damaging 0.99
R5174:Sec63 UTSW 10 42,705,077 (GRCm39) utr 3 prime probably benign
R5619:Sec63 UTSW 10 42,665,378 (GRCm39) missense probably damaging 1.00
R5766:Sec63 UTSW 10 42,677,677 (GRCm39) missense probably damaging 0.99
R5820:Sec63 UTSW 10 42,672,241 (GRCm39) missense possibly damaging 0.49
R6232:Sec63 UTSW 10 42,704,861 (GRCm39) splice site probably null
R6656:Sec63 UTSW 10 42,692,379 (GRCm39) nonsense probably null
R6847:Sec63 UTSW 10 42,667,249 (GRCm39) missense probably damaging 1.00
R6971:Sec63 UTSW 10 42,659,438 (GRCm39) missense probably damaging 1.00
R8037:Sec63 UTSW 10 42,659,483 (GRCm39) missense probably benign 0.00
R8529:Sec63 UTSW 10 42,665,379 (GRCm39) missense probably damaging 1.00
R8756:Sec63 UTSW 10 42,686,905 (GRCm39) missense possibly damaging 0.51
R9259:Sec63 UTSW 10 42,699,937 (GRCm39) missense probably benign 0.11
R9391:Sec63 UTSW 10 42,681,101 (GRCm39) missense probably benign 0.01
R9419:Sec63 UTSW 10 42,679,901 (GRCm39) missense probably damaging 1.00
R9760:Sec63 UTSW 10 42,704,944 (GRCm39) missense probably benign 0.00
RF010:Sec63 UTSW 10 42,682,620 (GRCm39) missense probably benign 0.04
Posted On 2017-10-20