Incidental Mutation 'IGL01933:Sec11a'
ID180481
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sec11a
Ensembl Gene ENSMUSG00000025724
Gene NameSEC11 homolog A, signal peptidase complex subunit
SynonymsSec11l1, 18kDa, sid2895, 1810012E07Rik, Spc18
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.745) question?
Stock #IGL01933
Quality Score
Status
Chromosome7
Chromosomal Location80904889-80947780 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80935062 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 42 (I42M)
Ref Sequence ENSEMBL: ENSMUSP00000112944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026818] [ENSMUST00000117383] [ENSMUST00000119980] [ENSMUST00000120285]
Predicted Effect probably benign
Transcript: ENSMUST00000026818
AA Change: I42M

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000026818
Gene: ENSMUSG00000025724
AA Change: I42M

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 benign
Transcript: ENSMUST00000117383
AA Change: I42M

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113601
Gene: ENSMUSG00000025724
AA Change: I42M

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
AA Change: I42M

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112425
Gene: ENSMUSG00000025724
AA Change: I42M

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Peptidase_S24 51 120 2.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120285
AA Change: I42M

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112944
Gene: ENSMUSG00000025724
AA Change: I42M

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
Coding Region Coverage
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,257,367 V575F possibly damaging Het
Abca2 T A 2: 25,444,111 V1800E probably damaging Het
Acacb C T 5: 114,184,190 probably benign Het
Adam34 C A 8: 43,651,532 G359W probably damaging Het
Ankrd42 G A 7: 92,605,285 T372I probably benign Het
Apc2 A G 10: 80,311,740 D847G probably damaging Het
Arap3 T A 18: 37,978,453 T1137S possibly damaging Het
Atp10b A C 11: 43,194,630 T279P probably damaging Het
Bmp2 T A 2: 133,554,658 M78K possibly damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Ccdc61 T G 7: 18,892,558 M369L probably benign Het
Cep78 A T 19: 15,955,940 I758N probably benign Het
Ces2a A G 8: 104,741,415 *526W probably null Het
Cgnl1 C T 9: 71,645,483 probably benign Het
Clec14a A G 12: 58,268,318 Y173H probably damaging Het
Cntn4 G A 6: 106,694,384 S976N probably damaging Het
Col6a4 G A 9: 106,060,114 T1401I probably benign Het
D5Ertd579e T C 5: 36,615,756 T432A probably benign Het
Dixdc1 G A 9: 50,703,258 R163* probably null Het
Dmxl1 C A 18: 49,877,785 T1003K probably benign Het
Dnah1 G A 14: 31,310,915 R388W probably benign Het
Eci3 C T 13: 34,948,789 A202T probably damaging Het
Egr2 T C 10: 67,540,194 S220P probably damaging Het
Fntb C T 12: 76,920,106 P405S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm26602 C A 10: 79,911,121 R236L probably benign Het
Hao2 T C 3: 98,880,332 probably benign Het
Irgm2 A T 11: 58,219,957 N170I possibly damaging Het
Klhl20 G A 1: 161,106,787 R221W probably damaging Het
Kmt2b A G 7: 30,569,514 probably null Het
Lrrc46 C T 11: 97,035,528 E181K probably benign Het
Lztr1 T A 16: 17,520,591 V226E probably damaging Het
Myh9 G T 15: 77,781,218 D684E probably benign Het
Myo7a T C 7: 98,083,142 T713A probably damaging Het
Nrap G T 19: 56,388,818 N62K probably damaging Het
Olfr1434 A T 19: 12,283,705 Y219F probably damaging Het
Olfr642 T C 7: 104,049,814 Y180C probably damaging Het
Osbp2 T C 11: 3,712,016 D708G probably damaging Het
Pcnx2 G A 8: 125,761,654 P1717L probably damaging Het
Pex1 A G 5: 3,633,789 D1095G probably damaging Het
Ptpn3 T C 4: 57,197,576 H771R probably benign Het
R3hcc1l G A 19: 42,562,950 A129T probably damaging Het
Rbm15 G A 3: 107,331,103 R660W probably damaging Het
Recql C T 6: 142,364,638 V489M probably benign Het
Sash1 A T 10: 8,751,133 S162R probably damaging Het
Slc25a23 G A 17: 57,052,813 Q61* probably null Het
Son A T 16: 91,658,015 M1217L probably benign Het
Srgap2 T C 1: 131,411,855 N123S probably damaging Het
Ssh1 T C 5: 113,950,380 probably benign Het
St13 T C 15: 81,389,698 probably null Het
St3gal3 A T 4: 118,031,875 D57E probably damaging Het
Stk4 C T 2: 164,098,585 probably benign Het
Tln1 T A 4: 43,539,508 T1605S probably benign Het
Tln1 T C 4: 43,555,894 T107A possibly damaging Het
Tmem135 G T 7: 89,143,857 probably benign Het
Tmtc3 A G 10: 100,447,605 M696T probably benign Het
Trbv29 T A 6: 41,271,827 L97Q probably damaging Het
Trpc4ap A T 2: 155,639,535 F534I possibly damaging Het
Trpm8 T C 1: 88,326,405 Y117H probably damaging Het
Zfp608 T C 18: 54,987,799 T239A probably benign Het
Zmym5 T G 14: 56,804,160 H162P probably damaging Het
Other mutations in Sec11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0083:Sec11a UTSW 7 80935039 missense probably damaging 1.00
R0108:Sec11a UTSW 7 80935039 missense probably damaging 1.00
R0661:Sec11a UTSW 7 80935039 missense probably damaging 1.00
R1511:Sec11a UTSW 7 80927734 splice site probably null
R1704:Sec11a UTSW 7 80935100 missense possibly damaging 0.47
R4209:Sec11a UTSW 7 80935042 missense probably damaging 1.00
R5135:Sec11a UTSW 7 80923064 intron probably benign
R6362:Sec11a UTSW 7 80923131 missense probably benign 0.02
Posted On2014-05-07