Incidental Mutation 'R0083:Sec11a'
ID 19757
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 038370-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.714) question?
Stock # R0083 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 80565125-80597295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80584787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 50 (V50A)
Ref Sequence ENSEMBL: ENSMUSP00000112944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026818] [ENSMUST00000117383] [ENSMUST00000119980] [ENSMUST00000120285]
AlphaFold Q9R0P6
Predicted Effect probably benign
Transcript: ENSMUST00000026818
AA Change: V50A

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026818
Gene: ENSMUSG00000025724
AA Change: V50A

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: V50A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113601
Gene: ENSMUSG00000025724
AA Change: V50A

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 possibly damaging
Transcript: ENSMUST00000119980
AA Change: V50A

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112425
Gene: ENSMUSG00000025724
AA Change: V50A

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Peptidase_S24 51 120 2.5e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000120285
AA Change: V50A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112944
Gene: ENSMUSG00000025724
AA Change: V50A

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Peptidase_S24 51 123 8.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147881
Meta Mutation Damage Score 0.5930 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.8%
  • 10x: 94.0%
  • 20x: 83.1%
Validation Efficiency 88% (117/133)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,667,406 (GRCm39) I266F unknown Het
Adam39 T G 8: 41,278,115 (GRCm39) F169V probably damaging Het
Adcy2 A T 13: 68,800,054 (GRCm39) V858E probably damaging Het
Adgrv1 A G 13: 81,726,523 (GRCm39) probably benign Het
Ankrd26 G T 6: 118,500,215 (GRCm39) H1085Q probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atg4c C T 4: 99,109,677 (GRCm39) H215Y possibly damaging Het
Atp6v0d2 G A 4: 19,880,001 (GRCm39) probably benign Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
C1qtnf3 G A 15: 10,975,718 (GRCm39) V175I possibly damaging Het
Cacna1c A G 6: 118,602,484 (GRCm39) M1293T probably damaging Het
Ccdc88a T A 11: 29,453,463 (GRCm39) S337T probably damaging Het
Cntn4 A G 6: 106,502,330 (GRCm39) I362M possibly damaging Het
Col22a1 A T 15: 71,762,346 (GRCm39) D104E possibly damaging Het
Col4a4 T C 1: 82,484,832 (GRCm39) probably null Het
Cul7 C A 17: 46,966,482 (GRCm39) R304S probably benign Het
Elfn2 A T 15: 78,557,614 (GRCm39) L311Q probably damaging Het
Esrrb T C 12: 86,561,226 (GRCm39) L320P probably damaging Het
Fads2b A T 2: 85,324,476 (GRCm39) F283L possibly damaging Het
Fbxw10 A G 11: 62,767,887 (GRCm39) T903A probably benign Het
Fkbp4 G A 6: 128,409,370 (GRCm39) probably benign Het
Gatad2b T A 3: 90,265,250 (GRCm39) Y576N probably damaging Het
Greb1 T C 12: 16,746,452 (GRCm39) M1273V probably benign Het
Helq C A 5: 100,916,234 (GRCm39) E913* probably null Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Ints13 A G 6: 146,452,162 (GRCm39) Y686H probably benign Het
Itgb7 C T 15: 102,131,917 (GRCm39) R222H probably damaging Het
Krt81 A G 15: 101,361,346 (GRCm39) I78T probably damaging Het
Lonp2 G A 8: 87,442,983 (GRCm39) V815I probably benign Het
Mctp2 G T 7: 71,878,264 (GRCm39) F271L possibly damaging Het
Mrto4 C T 4: 139,075,279 (GRCm39) V175I possibly damaging Het
Myh14 A G 7: 44,283,943 (GRCm39) V654A probably damaging Het
Neu2 A G 1: 87,524,984 (GRCm39) Y323C probably damaging Het
Nt5dc1 A C 10: 34,279,760 (GRCm39) M94R probably damaging Het
Nup210l A G 3: 90,096,882 (GRCm39) T1364A probably damaging Het
Obscn T C 11: 58,913,200 (GRCm39) D6939G probably damaging Het
Or10q1b A T 19: 13,683,042 (GRCm39) T284S probably damaging Het
Pias4 A G 10: 81,000,000 (GRCm39) S18P probably damaging Het
Plcl1 A G 1: 55,737,098 (GRCm39) Y813C possibly damaging Het
Plk5 G A 10: 80,192,496 (GRCm39) G34S possibly damaging Het
Ptprj A T 2: 90,300,121 (GRCm39) probably null Het
Rps6ka2 G A 17: 7,563,442 (GRCm39) D617N probably benign Het
Sap130 C A 18: 31,799,382 (GRCm39) probably benign Het
Sap130 C T 18: 31,844,694 (GRCm39) P902S probably damaging Het
Sel1l3 C T 5: 53,295,244 (GRCm39) A786T possibly damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc15a2 T C 16: 36,602,645 (GRCm39) Y72C probably damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slc30a5 G T 13: 100,939,908 (GRCm39) A669E probably damaging Het
Sppl2c G A 11: 104,077,358 (GRCm39) V53I probably benign Het
Sstr1 T A 12: 58,260,528 (GRCm39) C384S possibly damaging Het
Sulf1 A G 1: 12,887,641 (GRCm39) M272V probably damaging Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tmem94 A G 11: 115,687,550 (GRCm39) probably benign Het
Topaz1 A T 9: 122,604,674 (GRCm39) I1093L probably benign Het
Ttll4 G T 1: 74,718,928 (GRCm39) V260L probably benign Het
Vmn2r26 A T 6: 124,030,940 (GRCm39) probably null Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp939 A T 7: 39,123,534 (GRCm39) noncoding transcript Het
Other mutations in Sec11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Sec11a APN 7 80,584,810 (GRCm39) missense probably benign 0.21
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
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'- GGCCTGATATACCAAACACAGGAATGC -3'
(R):5'- TCATTTCCTTCCCTGGGTGAGGATAG -3'

Sequencing Primer
(F):5'- acacacaaacacactgacac -3'
(R):5'- ATAGTGGTGGATCTGATTTCTTCTC -3'
Posted On 2013-04-11