Incidental Mutation 'R1136:Sec63'
ID 95013
Institutional Source Beutler Lab
Gene Symbol Sec63
Ensembl Gene ENSMUSG00000019802
Gene Name SEC63 homolog, protein translocation regulator
Synonyms 5730478J10Rik
MMRRC Submission 039209-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1136 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 42637492-42708510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42682542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 411 (D411V)
Ref Sequence ENSEMBL: ENSMUSP00000019937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019937]
AlphaFold Q8VHE0
Predicted Effect probably damaging
Transcript: ENSMUST00000019937
AA Change: D411V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019937
Gene: ENSMUSG00000019802
AA Change: D411V

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: ENSMUST00000144228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155410
Meta Mutation Damage Score 0.5962 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.5%
Validation Efficiency 100% (52/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy2 C T 13: 68,878,436 (GRCm39) G401S probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Bmp2 T C 2: 133,402,847 (GRCm39) F133L probably damaging Het
C1qtnf3 A G 15: 10,978,670 (GRCm39) E290G probably damaging Het
Ccdc180 C A 4: 45,914,589 (GRCm39) D701E probably benign Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Csmd3 A T 15: 47,539,213 (GRCm39) I1508N probably damaging Het
Dgkh T C 14: 78,862,329 (GRCm39) R80G probably damaging Het
Dock1 T A 7: 134,449,902 (GRCm39) V805D possibly damaging Het
Eef2 C CN 10: 81,014,603 (GRCm39) probably null Het
Ercc6l2 T A 13: 64,016,934 (GRCm39) V679D possibly damaging Het
Esp6 T C 17: 40,876,284 (GRCm39) Y111H probably benign Het
Focad T C 4: 88,244,417 (GRCm39) F799S unknown Het
Foxred1 C A 9: 35,116,333 (GRCm39) M438I probably benign Het
Galnt11 T G 5: 25,463,943 (GRCm39) V405G probably damaging Het
Gm4847 A G 1: 166,457,935 (GRCm39) Y473H probably damaging Het
Gpbp1l1 C T 4: 116,450,115 (GRCm39) T461M probably damaging Het
Hnrnpu A T 1: 178,158,790 (GRCm39) probably benign Het
Kmt2d A T 15: 98,755,646 (GRCm39) probably benign Het
Matr3 A G 18: 35,705,948 (GRCm39) H291R probably damaging Het
Mfsd14b C T 13: 65,243,506 (GRCm39) S46N probably benign Het
Mtch1 C T 17: 29,552,744 (GRCm39) probably null Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mylk T C 16: 34,820,688 (GRCm39) I1880T probably damaging Het
N4bp2 T C 5: 65,965,815 (GRCm39) L1288P probably damaging Het
Ncf2 A T 1: 152,706,123 (GRCm39) H245L probably damaging Het
Nmd3 T A 3: 69,654,049 (GRCm39) probably benign Het
Npdc1 G T 2: 25,297,727 (GRCm39) A127S probably benign Het
Nudt3 C A 17: 27,842,080 (GRCm39) R27L probably benign Het
Nwd1 C T 8: 73,424,397 (GRCm39) probably benign Het
Pex7 T A 10: 19,764,434 (GRCm39) I170F probably benign Het
Phyhipl A G 10: 70,404,902 (GRCm39) V57A probably damaging Het
Pkhd1 G A 1: 20,593,053 (GRCm39) P1687S possibly damaging Het
Plekhj1 A T 10: 80,633,654 (GRCm39) probably null Het
Prss21 T A 17: 24,091,968 (GRCm39) L312H probably damaging Het
Samsn1 T C 16: 75,670,408 (GRCm39) I232V probably null Het
Slc44a4 C T 17: 35,146,998 (GRCm39) H343Y probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tent2 C T 13: 93,312,205 (GRCm39) probably null Het
Tmtc3 A G 10: 100,307,905 (GRCm39) probably benign Het
Trafd1 C T 5: 121,511,387 (GRCm39) R477H possibly damaging Het
Uhrf2 T A 19: 30,033,626 (GRCm39) probably benign Het
Vmn2r68 T A 7: 84,871,549 (GRCm39) D578V possibly damaging Het
Wdcp G A 12: 4,901,655 (GRCm39) V504I possibly damaging Het
Wdr93 T C 7: 79,423,196 (GRCm39) Y487H probably damaging Het
Zfp457 T C 13: 67,441,846 (GRCm39) H147R probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- AAGTAGAGGCCACCTGTACTTAGAAGG -3'
(R):5'- ACGTTTGAAGGAGCCTGACCTAAAAG -3'

Sequencing Primer
(F):5'- GACAATAGTTACTGATTGGATCAGG -3'
(R):5'- ggagcctgacctaaaagtaaatg -3'
Posted On 2014-01-05