Incidental Mutation 'IGL02692:Serpina9'
ID 303798
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina9
Ensembl Gene ENSMUSG00000058260
Gene Name serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9
Synonyms Centerin, 2310014L03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL02692
Quality Score
Status
Chromosome 12
Chromosomal Location 103962877-103979911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 103974665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 163 (F163V)
Ref Sequence ENSEMBL: ENSMUSP00000058535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058464] [ENSMUST00000164023]
AlphaFold Q9D7D2
Predicted Effect probably damaging
Transcript: ENSMUST00000058464
AA Change: F163V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058535
Gene: ENSMUSG00000058260
AA Change: F163V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 55 415 1.27e-158 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164023
AA Change: F163V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130064
Gene: ENSMUSG00000058260
AA Change: F163V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 55 205 8.9e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A C 10: 100,439,410 (GRCm39) S72R probably benign Het
4930544G11Rik T C 6: 65,929,792 (GRCm39) V9A probably damaging Het
Actl11 A G 9: 107,806,507 (GRCm39) N277D probably benign Het
Adam2 T A 14: 66,311,536 (GRCm39) I57F probably damaging Het
Adgrf1 T C 17: 43,614,669 (GRCm39) F251S probably damaging Het
Anapc15-ps T C 10: 95,509,089 (GRCm39) I64V probably benign Het
Anapc4 T C 5: 53,021,871 (GRCm39) V651A probably damaging Het
Atl2 T C 17: 80,172,482 (GRCm39) N163D probably benign Het
B4galnt3 G A 6: 120,187,272 (GRCm39) R708C probably damaging Het
Capza2 C T 6: 17,654,115 (GRCm39) Q56* probably null Het
Cspg4 T A 9: 56,794,738 (GRCm39) H824Q probably benign Het
Dock7 G A 4: 98,875,623 (GRCm39) P1106S probably damaging Het
Fat4 A G 3: 39,005,235 (GRCm39) Y1878C probably damaging Het
Grk2 A T 19: 4,340,716 (GRCm39) probably benign Het
Lmbrd2 G A 15: 9,149,155 (GRCm39) V13I possibly damaging Het
Loxhd1 G T 18: 77,444,609 (GRCm39) C336F probably damaging Het
Morc1 T A 16: 48,330,596 (GRCm39) F355L probably null Het
Mov10 C A 3: 104,708,119 (GRCm39) E503* probably null Het
Nt5dc3 T A 10: 86,640,642 (GRCm39) probably null Het
Or2w3b A G 11: 58,623,343 (GRCm39) V216A probably benign Het
Phf20 T A 2: 156,140,498 (GRCm39) M724K probably damaging Het
Pla2g2e G T 4: 138,609,870 (GRCm39) probably benign Het
Polq T A 16: 36,880,989 (GRCm39) V772E probably damaging Het
Rhoh A G 5: 66,050,143 (GRCm39) R138G probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Septin7 A G 9: 25,207,786 (GRCm39) probably benign Het
Slc2a13 A T 15: 91,205,861 (GRCm39) F442Y probably benign Het
Slc34a1 G A 13: 55,551,049 (GRCm39) probably benign Het
Slc6a11 T C 6: 114,139,100 (GRCm39) F236S probably damaging Het
Usp1 A G 4: 98,817,197 (GRCm39) K130E probably benign Het
Zfp386 A G 12: 116,022,855 (GRCm39) E156G probably damaging Het
Zfp957 C T 14: 79,450,825 (GRCm39) V325I unknown Het
Other mutations in Serpina9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Serpina9 APN 12 103,974,845 (GRCm39) missense probably damaging 1.00
IGL02228:Serpina9 APN 12 103,974,859 (GRCm39) missense probably benign 0.02
IGL03149:Serpina9 APN 12 103,974,869 (GRCm39) nonsense probably null
IGL03134:Serpina9 UTSW 12 103,967,696 (GRCm39) missense probably null 0.18
R0119:Serpina9 UTSW 12 103,967,729 (GRCm39) missense probably benign 0.18
R0299:Serpina9 UTSW 12 103,967,729 (GRCm39) missense probably benign 0.18
R0499:Serpina9 UTSW 12 103,967,729 (GRCm39) missense probably benign 0.18
R1477:Serpina9 UTSW 12 103,963,362 (GRCm39) missense possibly damaging 0.90
R1912:Serpina9 UTSW 12 103,967,508 (GRCm39) missense probably damaging 1.00
R2142:Serpina9 UTSW 12 103,974,568 (GRCm39) missense probably benign 0.04
R2221:Serpina9 UTSW 12 103,964,523 (GRCm39) missense probably damaging 0.98
R2413:Serpina9 UTSW 12 103,967,485 (GRCm39) critical splice donor site probably null
R3939:Serpina9 UTSW 12 103,975,151 (GRCm39) start codon destroyed probably benign 0.01
R4515:Serpina9 UTSW 12 103,967,553 (GRCm39) missense probably benign 0.14
R5242:Serpina9 UTSW 12 103,974,644 (GRCm39) missense probably benign 0.09
R5589:Serpina9 UTSW 12 103,967,728 (GRCm39) missense probably benign 0.00
R5900:Serpina9 UTSW 12 103,975,130 (GRCm39) nonsense probably null
R6171:Serpina9 UTSW 12 103,974,678 (GRCm39) nonsense probably null
R6195:Serpina9 UTSW 12 103,967,666 (GRCm39) missense probably damaging 0.96
R6566:Serpina9 UTSW 12 103,963,296 (GRCm39) missense possibly damaging 0.61
R6995:Serpina9 UTSW 12 103,967,495 (GRCm39) missense probably damaging 1.00
R7762:Serpina9 UTSW 12 103,967,575 (GRCm39) missense probably damaging 0.98
R7808:Serpina9 UTSW 12 103,967,484 (GRCm39) critical splice donor site probably null
R7860:Serpina9 UTSW 12 103,967,680 (GRCm39) missense probably benign 0.01
R7935:Serpina9 UTSW 12 103,964,421 (GRCm39) missense probably damaging 1.00
R9041:Serpina9 UTSW 12 103,967,737 (GRCm39) missense
Z1176:Serpina9 UTSW 12 103,967,543 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16