Incidental Mutation 'R9391:Sec63'
ID 710601
Institutional Source Beutler Lab
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 # R9391 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 42637492-42708510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42681101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 362 (S362T)
Ref Sequence ENSEMBL: ENSMUSP00000019937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019937]
AlphaFold Q8VHE0
Predicted Effect probably benign
Transcript: ENSMUST00000019937
AA Change: S362T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000019937
Gene: ENSMUSG00000019802
AA Change: S362T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,178,542 (GRCm39) T1144A probably benign Het
Adam32 C T 8: 25,374,472 (GRCm39) E507K probably damaging Het
Adgrf3 T C 5: 30,400,071 (GRCm39) E974G possibly damaging Het
Agbl1 A G 7: 76,071,602 (GRCm39) E560G unknown Het
Ank2 A T 3: 126,731,394 (GRCm39) H671Q probably damaging Het
Asic5 C T 3: 81,928,366 (GRCm39) T485M probably benign Het
Bco2 T C 9: 50,446,022 (GRCm39) probably null Het
C1qtnf6 A G 15: 78,415,516 (GRCm39) C23R unknown Het
Ccdc18 T C 5: 108,376,770 (GRCm39) F1404L probably benign Het
Cfap46 A T 7: 139,198,027 (GRCm39) I2107N unknown Het
Cfap97d1 G T 11: 101,881,655 (GRCm39) R117I probably benign Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Cpb2 A C 14: 75,508,136 (GRCm39) Q199P probably damaging Het
Dnah7b T A 1: 46,272,914 (GRCm39) Y2347* probably null Het
Dyrk1a T A 16: 94,460,373 (GRCm39) C10S possibly damaging Het
F2r A T 13: 95,740,656 (GRCm39) V293D probably damaging Het
Gm28363 G A 1: 117,626,629 (GRCm39) W22* probably null Het
Hira T C 16: 18,767,892 (GRCm39) S696P possibly damaging Het
Klhl2 A G 8: 65,275,684 (GRCm39) V73A probably damaging Het
Lalba A T 15: 98,380,417 (GRCm39) W46R probably damaging Het
Map3k13 C A 16: 21,740,665 (GRCm39) T664N probably benign Het
Ncor1 T A 11: 62,216,376 (GRCm39) K1166* probably null Het
Npdc1 T A 2: 25,297,979 (GRCm39) M176K possibly damaging Het
Obscn A G 11: 58,964,408 (GRCm39) S3045P probably damaging Het
Or13a20 G A 7: 140,232,272 (GRCm39) A127T probably damaging Het
Plekhg4 G C 8: 106,106,043 (GRCm39) K813N probably damaging Het
Pramel39-ps G T 5: 94,451,001 (GRCm39) P375H probably damaging Het
Prdm12 G A 2: 31,544,162 (GRCm39) R255H probably benign Het
Rbbp8 T C 18: 11,854,990 (GRCm39) I405T possibly damaging Het
Sctr A G 1: 119,983,178 (GRCm39) T328A probably benign Het
Sgsm2 A G 11: 74,744,630 (GRCm39) L818P probably damaging Het
Shprh G A 10: 11,038,633 (GRCm39) V463I probably benign Het
Smyd5 T C 6: 85,418,739 (GRCm39) F241S probably damaging Het
Tax1bp1 T A 6: 52,735,220 (GRCm39) Y680* probably null Het
Tbc1d17 A G 7: 44,494,683 (GRCm39) S212P probably damaging Het
Tle1 A T 4: 72,116,159 (GRCm39) V62E probably damaging Het
Tnfaip3 G T 10: 18,883,075 (GRCm39) N163K probably damaging Het
Trim8 T A 19: 46,503,955 (GRCm39) Y502* probably null Het
Trip12 A T 1: 84,773,473 (GRCm39) F54L probably benign Het
Trpc2 T A 7: 101,745,067 (GRCm39) L761Q probably damaging Het
Vps41 A T 13: 18,994,616 (GRCm39) E154D 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
IGL03493:Sec63 APN 10 42,704,937 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- GTTGCTGGGTAATACACATTTGAC -3'
(R):5'- GCTTCAGCGTTAGTCCAACTG -3'

Sequencing Primer
(F):5'- GTGTGATTTTATTCCTTGCAATG -3'
(R):5'- CAGCGTTAGTCCAACTGTATTTTTG -3'
Posted On 2022-04-18