Incidental Mutation 'R9346:Sec11a'
ID 707801
Institutional Source Beutler Lab
Gene Symbol Sec11a
Ensembl Gene ENSMUSG00000025724
Gene Name SEC11 homolog A, signal peptidase complex subunit
Synonyms 1810012E07Rik, 18kDa, Spc18, sid2895, Sec11l1
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.714) question?
Stock # R9346 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 80565125-80597295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80557760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 173 (D173G)
Ref Sequence ENSEMBL: ENSMUSP00000112944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026817] [ENSMUST00000119428] [ENSMUST00000120285]
AlphaFold Q9R0P6
Predicted Effect probably benign
Transcript: ENSMUST00000026817
SMART Domains Protein: ENSMUSP00000026817
Gene: ENSMUSG00000025723

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Bombesin 47 60 3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119428
SMART Domains Protein: ENSMUSP00000113407
Gene: ENSMUSG00000025723

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
Pfam:Bombesin 47 60 1.4e-12 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000120285
AA Change: D173G
SMART Domains Protein: ENSMUSP00000112944
Gene: ENSMUSG00000025724
AA Change: D173G

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Peptidase_S24 51 123 8.5e-12 PFAM
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (45/45)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik G T 11: 58,179,095 (GRCm39) C143F Het
Adam8 T C 7: 139,567,634 (GRCm39) I370V probably benign Het
Adamts1 T A 16: 85,599,420 (GRCm39) D60V possibly damaging Het
Adh5 G A 3: 138,157,203 (GRCm39) V255I probably benign Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Arid2 T C 15: 96,185,792 (GRCm39) I37T probably benign Het
Arnt2 C T 7: 83,931,321 (GRCm39) R383Q probably benign Het
Arrb1 T A 7: 99,242,207 (GRCm39) Y238* probably null Het
Brdt T C 5: 107,524,880 (GRCm39) I807T probably damaging Het
Cacna1d T A 14: 29,818,880 (GRCm39) Q1247L possibly damaging Het
Carmil3 T C 14: 55,732,141 (GRCm39) Y213H probably damaging Het
Ccdc180 A T 4: 45,927,953 (GRCm39) T1163S probably benign Het
Cfl1 T A 19: 5,543,641 (GRCm39) L206Q probably benign Het
Chga A G 12: 102,525,548 (GRCm39) D63G probably damaging Het
Dennd1a T C 2: 37,911,447 (GRCm39) D180G probably benign Het
Dop1b T C 16: 93,577,702 (GRCm39) probably null Het
Fam171a2 C T 11: 102,328,771 (GRCm39) V663M possibly damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Gimap9 C A 6: 48,654,492 (GRCm39) N26K probably damaging Het
Gtf2i A G 5: 134,273,663 (GRCm39) F769L probably damaging Het
Gtf2i G T 5: 134,315,781 (GRCm39) H164N probably benign Het
Ino80 G A 2: 119,257,439 (GRCm39) T797I possibly damaging Het
Kcnma1 T C 14: 23,700,233 (GRCm39) S188G possibly damaging Het
Krt82 A G 15: 101,458,959 (GRCm39) M27T probably benign Het
Ncam2 A G 16: 81,252,204 (GRCm39) K216E probably benign Het
Nynrin A G 14: 56,100,495 (GRCm39) Q95R probably benign Het
Or1e1c T C 11: 73,266,129 (GRCm39) S188P probably benign Het
Or4c102 T A 2: 88,423,062 (GRCm39) S305T probably benign Het
Pon1 C A 6: 5,193,722 (GRCm39) V10L probably benign Het
Ptk2b T A 14: 66,415,541 (GRCm39) N252Y possibly damaging Het
Rad51 G A 2: 118,949,093 (GRCm39) C31Y probably benign Het
Sbf2 A G 7: 109,919,946 (GRCm39) F1525L probably benign Het
Sftpd C T 14: 40,896,466 (GRCm39) R239H probably benign Het
Shq1 T A 6: 100,641,431 (GRCm39) Y150F probably damaging Het
Slc39a11 A G 11: 113,414,449 (GRCm39) V50A probably damaging Het
Snrnp25 A T 11: 32,155,622 (GRCm39) M1L probably benign Het
Tgm6 A T 2: 129,983,776 (GRCm39) K312* probably null Het
Tln1 C A 4: 43,546,895 (GRCm39) R827L probably damaging Het
Trim37 A T 11: 87,057,426 (GRCm39) probably null Het
Zdhhc13 T A 7: 48,472,328 (GRCm39) N495K probably benign Het
Zfp280b C T 10: 75,875,126 (GRCm39) T335I possibly damaging Het
Zfp583 T A 7: 6,328,542 (GRCm39) T16S probably benign Het
Zgpat C A 2: 181,021,844 (GRCm39) D423E probably benign Het
Other mutations in Sec11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Sec11a APN 7 80,584,810 (GRCm39) missense probably benign 0.21
R0083:Sec11a UTSW 7 80,584,787 (GRCm39) missense probably damaging 1.00
R0108:Sec11a UTSW 7 80,584,787 (GRCm39) missense probably damaging 1.00
R0661:Sec11a UTSW 7 80,584,787 (GRCm39) missense probably damaging 1.00
R1511:Sec11a UTSW 7 80,577,482 (GRCm39) splice site probably null
R1704:Sec11a UTSW 7 80,584,848 (GRCm39) missense possibly damaging 0.47
R4209:Sec11a UTSW 7 80,584,790 (GRCm39) missense probably damaging 1.00
R5135:Sec11a UTSW 7 80,572,812 (GRCm39) intron probably benign
R6362:Sec11a UTSW 7 80,572,879 (GRCm39) missense probably benign 0.02
R8799:Sec11a UTSW 7 80,584,850 (GRCm39) missense possibly damaging 0.95
R9222:Sec11a UTSW 7 80,565,634 (GRCm39) missense probably damaging 1.00
R9589:Sec11a UTSW 7 80,565,899 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- CAGCTCACGTTTGCAAGAAC -3'
(R):5'- TTTCTTCCGCATAGGCAGG -3'

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