Incidental Mutation 'IGL01086:Serpina11'
ID52439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina11
Ensembl Gene ENSMUSG00000063232
Gene Nameserine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11
SynonymsLOC380780
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL01086
Quality Score
Status
Chromosome12
Chromosomal Location103980243-103989957 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103986070 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 147 (D147V)
Ref Sequence ENSEMBL: ENSMUSP00000135138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074693] [ENSMUST00000120251] [ENSMUST00000151709] [ENSMUST00000176246]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074693
AA Change: D149V

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000074258
Gene: ENSMUSG00000063232
AA Change: D149V

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
SERPIN 64 424 3.55e-139 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120251
AA Change: D147V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112420
Gene: ENSMUSG00000063232
AA Change: D147V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 62 422 3.55e-139 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139777
Predicted Effect possibly damaging
Transcript: ENSMUST00000151709
AA Change: D154V

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115400
Gene: ENSMUSG00000063232
AA Change: D154V

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
SERPIN 69 237 5.23e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176106
Predicted Effect probably damaging
Transcript: ENSMUST00000176246
AA Change: D147V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135138
Gene: ENSMUSG00000063232
AA Change: D147V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SERPIN 62 258 3.22e-9 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,648,863 R104S probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Aim2 A G 1: 173,455,433 Y27C probably damaging Het
Apol7b T C 15: 77,423,914 E127G probably damaging Het
Atp10a T C 7: 58,824,318 F1118L probably damaging Het
Cacna1e T C 1: 154,471,601 D940G probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clip4 G A 17: 71,824,794 V376I probably benign Het
Coro6 C A 11: 77,466,548 C194* probably null Het
Crebbp T C 16: 4,179,552 M223V probably benign Het
Dkk4 T A 8: 22,626,841 C157S probably damaging Het
Dnah14 T C 1: 181,752,046 L3048S probably benign Het
Dscaml1 T C 9: 45,702,662 probably benign Het
Gpr1 T C 1: 63,183,491 E195G probably benign Het
Gria2 T C 3: 80,692,381 Y732C probably damaging Het
Igkv4-59 T C 6: 69,438,723 I7V probably benign Het
Lamc3 T C 2: 31,898,476 F216S probably damaging Het
Lcn6 T C 2: 25,680,780 F61L probably benign Het
Nup205 T A 6: 35,208,936 probably benign Het
Olfr1143 T A 2: 87,803,200 Y266* probably null Het
Otof C T 5: 30,376,273 probably null Het
Pik3c2b T C 1: 133,091,618 C1035R probably damaging Het
Pla1a T C 16: 38,407,622 N298D probably benign Het
Poteg T A 8: 27,473,620 probably benign Het
Pwp1 T C 10: 85,879,893 probably null Het
Scel A G 14: 103,612,391 I631V probably benign Het
Scn3a T A 2: 65,470,159 M1288L probably benign Het
Shroom3 T A 5: 92,948,452 C1266S probably benign Het
Slc12a7 A G 13: 73,814,843 Y1054C probably damaging Het
Srms A G 2: 181,212,423 V117A probably damaging Het
Tmem161b T C 13: 84,222,422 probably benign Het
Tmem94 A T 11: 115,790,284 T158S probably benign Het
Tomm40l T C 1: 171,220,309 probably null Het
Traf6 A G 2: 101,684,783 I95V probably benign Het
Ttc13 A G 8: 124,675,346 I686T probably damaging Het
Zmat2 C T 18: 36,796,110 H104Y probably damaging Het
Other mutations in Serpina11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01480:Serpina11 APN 12 103982851 nonsense probably null
IGL03082:Serpina11 APN 12 103986301 missense probably benign 0.40
R0195:Serpina11 UTSW 12 103985872 missense probably damaging 1.00
R0233:Serpina11 UTSW 12 103980470 missense probably benign 0.00
R0233:Serpina11 UTSW 12 103980470 missense probably benign 0.00
R1318:Serpina11 UTSW 12 103986518 splice site probably benign
R1796:Serpina11 UTSW 12 103984695 missense probably damaging 1.00
R2102:Serpina11 UTSW 12 103982845 missense probably benign 0.01
R2202:Serpina11 UTSW 12 103985974 missense probably damaging 0.99
R2340:Serpina11 UTSW 12 103984743 missense probably benign 0.02
R4528:Serpina11 UTSW 12 103986333 missense probably benign 0.13
R4550:Serpina11 UTSW 12 103982895 missense probably damaging 1.00
R4946:Serpina11 UTSW 12 103984664 missense probably damaging 1.00
R5148:Serpina11 UTSW 12 103986244 missense probably damaging 1.00
R5311:Serpina11 UTSW 12 103985962 missense probably damaging 1.00
R6579:Serpina11 UTSW 12 103984748 missense probably damaging 1.00
R7289:Serpina11 UTSW 12 103986502 missense unknown
R7825:Serpina11 UTSW 12 103984577 missense probably benign 0.02
X0028:Serpina11 UTSW 12 103985899 missense probably benign 0.06
Z1177:Serpina11 UTSW 12 103980503 missense probably benign 0.21
Posted On2013-06-21