Incidental Mutation 'R0661:Sec11a'
ID 61838
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 038846-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.714) question?
Stock # R0661 (G1)
Quality Score 131
Status Not 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: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b T A 3: 20,370,163 (GRCm39) T148S possibly damaging Het
Anks3 A G 16: 4,766,198 (GRCm39) F124L probably damaging Het
Ar T A X: 97,194,171 (GRCm39) Y262N probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Brip1 A T 11: 86,001,189 (GRCm39) I749N possibly damaging Het
C1ra T A 6: 124,499,336 (GRCm39) H507Q probably benign Het
Cdk9 G A 2: 32,599,832 (GRCm39) T135I probably damaging Het
Col1a1 A G 11: 94,840,215 (GRCm39) T1088A unknown Het
Cpne2 T C 8: 95,282,667 (GRCm39) I283T possibly damaging Het
Dcaf17 T C 2: 70,918,779 (GRCm39) L451P probably damaging Het
Dhx57 C T 17: 80,576,293 (GRCm39) C599Y probably damaging Het
Drd1 T A 13: 54,207,057 (GRCm39) N379Y possibly damaging Het
Fsip2 A G 2: 82,816,513 (GRCm39) D4082G possibly damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Heyl G T 4: 123,139,824 (GRCm39) V128F probably damaging Het
Hoxd12 A G 2: 74,506,236 (GRCm39) E216G probably damaging Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Invs G A 4: 48,421,861 (GRCm39) R831H probably benign Het
Lrrk2 T C 15: 91,671,219 (GRCm39) V2000A probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Or11g27 A G 14: 50,771,552 (GRCm39) T228A probably benign Het
Or5an9 T C 19: 12,187,068 (GRCm39) L46P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh18 A C 3: 49,707,767 (GRCm39) S902R possibly damaging Het
Prdm15 A T 16: 97,630,882 (GRCm39) V190E probably benign Het
Ranbp2 T G 10: 58,314,555 (GRCm39) S1758R probably benign Het
Rimbp2 A G 5: 128,863,774 (GRCm39) V738A probably benign Het
Rtl5 T C X: 101,114,056 (GRCm39) H138R possibly damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slf1 A G 13: 77,231,715 (GRCm39) W555R probably benign Het
Spx A G 6: 142,359,565 (GRCm39) S5G possibly damaging Het
Tcp1 T C 17: 13,142,200 (GRCm39) V398A probably benign Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tsbp1 A T 17: 34,678,887 (GRCm39) I217F possibly damaging Het
Ufsp2 T A 8: 46,432,270 (GRCm39) M1K probably null Het
Usf1 G A 1: 171,245,067 (GRCm39) R196Q probably damaging Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Yme1l1 T A 2: 23,081,054 (GRCm39) M442K probably damaging Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A 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
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 2013-07-30