Incidental Mutation 'R9259:Sec63'
ID 702106
Institutional Source Beutler Lab
Gene Symbol Sec63
Ensembl Gene ENSMUSG00000019802
Gene Name SEC63 homolog, protein translocation regulator
Synonyms 5730478J10Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9259 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 42637492-42708510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 42699937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 666 (M666L)
Ref Sequence ENSEMBL: ENSMUSP00000019937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019937]
AlphaFold Q8VHE0
Predicted Effect probably benign
Transcript: ENSMUST00000019937
AA Change: M666L

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000019937
Gene: ENSMUSG00000019802
AA Change: M666L

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
Meta Mutation Damage Score 0.0630 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (65/65)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot6 A G 12: 84,155,816 (GRCm39) I255V possibly damaging Het
Adcy8 A T 15: 64,576,604 (GRCm39) I986N probably damaging Het
Agr2 T A 12: 36,053,863 (GRCm39) M164K probably damaging Het
Akap11 G A 14: 78,749,949 (GRCm39) H813Y Het
Alas1 A T 9: 106,118,835 (GRCm39) S195T probably benign Het
Aldoart1 T C 4: 72,770,680 (GRCm39) T43A probably benign Het
Alms1 A G 6: 85,644,873 (GRCm39) D2537G possibly damaging Het
Alpk3 A G 7: 80,743,302 (GRCm39) T1040A probably damaging Het
Ankrd16 T C 2: 11,784,532 (GRCm39) I120T probably damaging Het
Anks4b A G 7: 119,773,278 (GRCm39) E46G probably benign Het
Ap3d1 A T 10: 80,559,661 (GRCm39) V199E probably damaging Het
Atp1a3 A G 7: 24,696,956 (GRCm39) S236P probably damaging Het
Atp5mc2 T A 15: 102,571,561 (GRCm39) N110I probably damaging Het
Cabin1 A G 10: 75,582,576 (GRCm39) M280T probably benign Het
Cdc5l T C 17: 45,736,817 (GRCm39) T134A possibly damaging Het
Clec4n C A 6: 123,212,424 (GRCm39) P80Q probably damaging Het
Clip3 A G 7: 29,998,375 (GRCm39) K274E probably benign Het
Cntrob A T 11: 69,211,665 (GRCm39) D186E possibly damaging Het
Cplane1 T C 15: 8,232,787 (GRCm39) V1102A possibly damaging Het
Dcun1d3 A G 7: 119,457,052 (GRCm39) V220A probably benign Het
Emsy A T 7: 98,242,757 (GRCm39) N1127K probably benign Het
Entpd2 C T 2: 25,288,614 (GRCm39) S206L probably damaging Het
Fgd4 T C 16: 16,295,325 (GRCm39) E218G probably damaging Het
Fkbp2 G T 19: 6,955,960 (GRCm39) Q82K probably benign Het
Gpr161 T C 1: 165,138,025 (GRCm39) Y204H probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gstt2 C T 10: 75,669,511 (GRCm39) D59N possibly damaging Het
Havcr1 A T 11: 46,661,318 (GRCm39) D206V probably damaging Het
Hoxb9 G A 11: 96,162,762 (GRCm39) G132D probably damaging Het
Ifi44 C T 3: 151,454,875 (GRCm39) V117M possibly damaging Het
Inhbe A G 10: 127,186,844 (GRCm39) F112S probably damaging Het
Iqgap2 A T 13: 95,766,561 (GRCm39) Y1481N probably damaging Het
Irak4 A T 15: 94,456,726 (GRCm39) H303L probably damaging Het
Kdm5d A G Y: 942,640 (GRCm39) E1435G possibly damaging Het
Kifc1 G T 17: 34,101,165 (GRCm39) T599K possibly damaging Het
Klhl38 T C 15: 58,186,471 (GRCm39) E86G probably benign Het
Mcub G C 3: 129,720,070 (GRCm39) T141R probably benign Het
Moxd2 A T 6: 40,860,969 (GRCm39) V274D probably damaging Het
Nol6 C T 4: 41,118,229 (GRCm39) V803M possibly damaging Het
Or8b51 C T 9: 38,569,642 (GRCm39) probably benign Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pbld1 A G 10: 62,897,436 (GRCm39) T46A possibly damaging Het
Peli3 T C 19: 4,984,486 (GRCm39) D192G probably benign Het
Perm1 C T 4: 156,303,607 (GRCm39) T717I probably benign Het
Pim1 G A 17: 29,710,181 (GRCm39) A22T probably benign Het
Pkp2 C T 16: 16,043,714 (GRCm39) P156L probably damaging Het
Ppwd1 G A 13: 104,359,612 (GRCm39) R130C probably damaging Het
Prdm16 C A 4: 154,430,525 (GRCm39) W321L possibly damaging Het
Ptprd T A 4: 75,990,200 (GRCm39) D504V probably damaging Het
Pusl1 T C 4: 155,975,639 (GRCm39) T65A probably damaging Het
Rtcb A G 10: 85,774,925 (GRCm39) I490T probably damaging Het
Sec31b G T 19: 44,505,855 (GRCm39) L967I probably damaging Het
Sh3rf1 G C 8: 61,806,838 (GRCm39) A379P probably benign Het
Slc7a12 T A 3: 14,546,376 (GRCm39) L174I probably damaging Het
Sptbn4 C T 7: 27,067,124 (GRCm39) S1935N possibly damaging Het
Susd6 A T 12: 80,898,030 (GRCm39) Q55L probably benign Het
Tecpr2 A G 12: 110,897,867 (GRCm39) E373G possibly damaging Het
Tent5c T C 3: 100,379,640 (GRCm39) Y372C probably damaging Het
Tm6sf2 A T 8: 70,530,585 (GRCm39) I222L probably benign Het
Tsc22d1 T A 14: 76,654,484 (GRCm39) V321E probably damaging Het
Tspoap1 A G 11: 87,670,350 (GRCm39) N172S Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vcan G A 13: 89,838,989 (GRCm39) S2185F probably damaging Het
Wapl G T 14: 34,463,052 (GRCm39) V1131L probably benign Het
Zfp658 A G 7: 43,224,280 (GRCm39) M852V 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
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
Predicted Primers PCR Primer
(F):5'- GCAGTCGTTGTTGATACAGTGC -3'
(R):5'- CATCATGTACCCCAGAACTAATGTTAC -3'

Sequencing Primer
(F):5'- ACAGTGCCTGGATCAGTATTAAG -3'
(R):5'- CCCAGAACTAATGTTACGGGCTG -3'
Posted On 2022-03-25