Incidental Mutation 'R9222:Sec11a'
ID 699537
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 # R9222 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 80565125-80597295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80565634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 170 (L170F)
Ref Sequence ENSEMBL: ENSMUSP00000026818 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026818] [ENSMUST00000117383] [ENSMUST00000119980] [ENSMUST00000120285]
AlphaFold Q9R0P6
Predicted Effect probably damaging
Transcript: ENSMUST00000026818
AA Change: L170F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026818
Gene: ENSMUSG00000025724
AA Change: L170F

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Peptidase_S24 51 120 6.2e-13 PFAM
low complexity region 166 176 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117383
AA Change: L181F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113601
Gene: ENSMUSG00000025724
AA Change: L181F

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Peptidase_S24 51 112 3.1e-12 PFAM
low complexity region 177 187 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119980
SMART Domains Protein: ENSMUSP00000112425
Gene: ENSMUSG00000025724

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Peptidase_S24 51 120 2.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120285
SMART Domains Protein: ENSMUSP00000112944
Gene: ENSMUSG00000025724

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Peptidase_S24 51 123 8.5e-12 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik C A 5: 138,560,562 (GRCm39) V278F unknown Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Actr5 T A 2: 158,473,423 (GRCm39) N272K probably damaging Het
Afg3l2 T C 18: 67,567,257 (GRCm39) T198A probably benign Het
Aloxe3 A G 11: 69,023,903 (GRCm39) Y278C probably damaging Het
Apobec3 A G 15: 79,783,270 (GRCm39) I226V Het
Arap2 T A 5: 62,828,421 (GRCm39) T917S possibly damaging Het
Arhgap40 T C 2: 158,388,692 (GRCm39) L545P probably damaging Het
Atp13a5 A T 16: 29,133,472 (GRCm39) L438H probably damaging Het
Ccdc191 T A 16: 43,725,831 (GRCm39) Y105N probably damaging Het
Ccdc7a A T 8: 129,525,610 (GRCm39) F1406L unknown Het
Celsr1 A G 15: 85,815,471 (GRCm39) V1848A possibly damaging Het
Chn1 T A 2: 73,443,499 (GRCm39) N417I probably damaging Het
Cmya5 T C 13: 93,230,579 (GRCm39) K1503R probably benign Het
Cryz T C 3: 154,317,203 (GRCm39) F141L probably benign Het
Dmac2l T C 12: 69,788,554 (GRCm39) V151A probably damaging Het
Dpep2 T A 8: 106,723,016 (GRCm39) H13L Het
Eif2b5 C T 16: 20,321,382 (GRCm39) R312* probably null Het
Evc A T 5: 37,477,650 (GRCm39) M343K probably benign Het
Fbxw17 T A 13: 50,577,367 (GRCm39) D86E probably damaging Het
Fbxw9 T A 8: 85,788,856 (GRCm39) L202Q probably damaging Het
Fkbp9 G T 6: 56,852,677 (GRCm39) V466F probably damaging Het
Fras1 G A 5: 96,805,087 (GRCm39) R1243Q probably benign Het
Fsip2 C T 2: 82,815,958 (GRCm39) T3897I probably benign Het
Fut7 T C 2: 25,315,191 (GRCm39) S150P possibly damaging Het
Gstm5 A G 3: 107,804,634 (GRCm39) I73V probably benign Het
Hspb9 A G 11: 100,604,769 (GRCm39) M32V possibly damaging Het
Ift80 A G 3: 68,825,894 (GRCm39) I482T possibly damaging Het
Khk C T 5: 31,079,141 (GRCm39) probably benign Het
Kmt2d A T 15: 98,747,324 (GRCm39) H3333Q unknown Het
Lamc1 G T 1: 153,119,087 (GRCm39) T844K probably damaging Het
Luc7l2 A T 6: 38,542,633 (GRCm39) I10L probably benign Het
Mosmo T A 7: 120,277,055 (GRCm39) I23N probably benign Het
Mtcl2 A G 2: 156,881,919 (GRCm39) V711A probably benign Het
Nbea AC A 3: 55,998,393 (GRCm39) probably null Het
Nfkbiz A T 16: 55,634,347 (GRCm39) V700E probably damaging Het
Nsun7 T C 5: 66,418,366 (GRCm39) V32A probably benign Het
Oog1 A G 12: 87,653,016 (GRCm39) D104G probably damaging Het
Or4b13 C T 2: 90,082,820 (GRCm39) V171M possibly damaging Het
Pde3a A G 6: 141,437,904 (GRCm39) D991G probably damaging Het
Pds5a G A 5: 65,805,281 (GRCm39) H522Y probably benign Het
Pi4ka A G 16: 17,176,225 (GRCm39) S405P Het
Plk4 T A 3: 40,760,990 (GRCm39) V440E possibly damaging Het
Prkd2 A G 7: 16,577,699 (GRCm39) I51V probably damaging Het
Ptprt T C 2: 161,402,106 (GRCm39) T1042A probably damaging Het
Rsph6a C A 7: 18,801,986 (GRCm39) T600N possibly damaging Het
Scn11a A T 9: 119,611,013 (GRCm39) V946E probably damaging Het
Slc15a5 A G 6: 137,961,450 (GRCm39) I215T Het
Slc1a1 A G 19: 28,882,794 (GRCm39) I353V probably benign Het
Smox A G 2: 131,362,843 (GRCm39) E374G possibly damaging Het
Sytl2 A G 7: 90,050,633 (GRCm39) T727A possibly damaging Het
Taar7d A C 10: 23,904,124 (GRCm39) K335N probably benign Het
Tacc2 T A 7: 130,227,985 (GRCm39) S1557T probably benign Het
Tbx19 C A 1: 164,966,609 (GRCm39) V422L probably benign Het
Tdrd1 G T 19: 56,831,679 (GRCm39) V357F probably benign Het
Tdrd6 A G 17: 43,939,231 (GRCm39) C606R probably damaging Het
Tmcc1 C G 6: 116,020,049 (GRCm39) G468R Het
Tmem209 G A 6: 30,506,838 (GRCm39) T93I probably damaging Het
Trpv1 T C 11: 73,141,681 (GRCm39) V568A possibly damaging Het
Tsbp1 A T 17: 34,648,922 (GRCm39) I43L Het
Tubgcp2 T C 7: 139,587,965 (GRCm39) D220G probably damaging Het
Vmn1r11 A G 6: 57,114,992 (GRCm39) R219G possibly damaging Het
Zan A G 5: 137,465,463 (GRCm39) S431P possibly damaging 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
R9346:Sec11a UTSW 7 80,557,760 (GRCm39) missense unknown
R9589:Sec11a UTSW 7 80,565,899 (GRCm39) makesense probably null
Predicted Primers PCR Primer
(F):5'- TTGACAGTCCCCTTGTGTGC -3'
(R):5'- GCTCCTCCAGGGATCTTTTG -3'

Sequencing Primer
(F):5'- ACTCCACGGTGCACATG -3'
(R):5'- GTTTACCTTTGGAGACTGTTAAATGG -3'
Posted On 2022-02-07