Incidental Mutation 'R0119:Serpina9'
ID 20997
Institutional Source Beutler Lab
Gene Symbol Serpina9
Ensembl Gene ENSMUSG00000058260
Gene Name serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9
Synonyms Centerin, 2310014L03Rik
MMRRC Submission 038405-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R0119 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 103962877-103979911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103967729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 222 (N222S)
Ref Sequence ENSEMBL: ENSMUSP00000058535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058464]
AlphaFold Q9D7D2
Predicted Effect probably benign
Transcript: ENSMUST00000058464
AA Change: N222S

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000058535
Gene: ENSMUSG00000058260
AA Change: N222S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 55 415 1.27e-158 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176106
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acad9 T C 3: 36,139,564 (GRCm39) V388A probably damaging Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adamts18 A G 8: 114,501,585 (GRCm39) I346T possibly damaging Het
Adcy8 T A 15: 64,588,015 (GRCm39) D894V probably damaging Het
Ap3d1 A G 10: 80,559,449 (GRCm39) probably benign Het
Arg2 A G 12: 79,194,386 (GRCm39) D70G probably damaging Het
Cap1 A T 4: 122,761,492 (GRCm39) L130Q probably damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Caskin2 A G 11: 115,693,253 (GRCm39) probably benign Het
Cd69 C T 6: 129,247,025 (GRCm39) S64N probably benign Het
Cd96 T C 16: 45,858,942 (GRCm39) probably benign Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Ces1c A T 8: 93,833,345 (GRCm39) probably benign Het
Ces1c A T 8: 93,834,238 (GRCm39) L351M probably benign Het
Cnih3 T A 1: 181,282,309 (GRCm39) probably benign Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Cry1 A G 10: 84,969,104 (GRCm39) probably null Het
Csmd3 T C 15: 47,710,527 (GRCm39) T1687A probably benign Het
Def8 G A 8: 124,183,234 (GRCm39) A278T probably damaging Het
Defb13 T C 8: 22,436,877 (GRCm39) probably benign Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Elmo3 T C 8: 106,036,400 (GRCm39) L668S probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Gm839 A T 6: 89,189,362 (GRCm39) noncoding transcript Het
Gng5 T A 3: 146,209,048 (GRCm39) C39S probably damaging Het
Gpr55 C T 1: 85,869,146 (GRCm39) W145* probably null Het
Hdlbp A C 1: 93,349,059 (GRCm39) probably benign Het
Man2a2 G T 7: 80,017,153 (GRCm39) N305K probably damaging Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mier3 T C 13: 111,851,572 (GRCm39) V490A probably damaging Het
Mpdz T C 4: 81,210,768 (GRCm39) T1693A probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Mug2 T A 6: 122,013,022 (GRCm39) H311Q probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nfat5 C T 8: 108,065,707 (GRCm39) R156W probably damaging Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Obox3 T A 7: 15,360,252 (GRCm39) probably null Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or1e34 C T 11: 73,778,656 (GRCm39) V181I probably benign Het
Pcdh15 T C 10: 74,006,407 (GRCm39) F95S probably damaging Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pde5a A G 3: 122,542,107 (GRCm39) N199S probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Per3 A G 4: 151,109,005 (GRCm39) probably benign Het
Pip4k2b A T 11: 97,613,762 (GRCm39) probably benign Het
Podn G T 4: 107,878,791 (GRCm39) L359I probably damaging Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Rere T G 4: 150,699,779 (GRCm39) probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Sh3bgrl3 A T 4: 133,855,347 (GRCm39) I33N probably damaging Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Tacc2 C A 7: 130,223,605 (GRCm39) Q116K probably damaging Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tnpo3 A G 6: 29,568,921 (GRCm39) V477A possibly damaging Het
Trim7 G T 11: 48,740,539 (GRCm39) R212L probably damaging Het
Trpm6 T A 19: 18,809,957 (GRCm39) C1118S probably benign Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r27 A G 6: 58,192,704 (GRCm39) F100S possibly damaging Het
Zbtb18 A G 1: 177,275,723 (GRCm39) E361G probably benign Het
Zzef1 T C 11: 72,712,677 (GRCm39) V199A probably benign 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
IGL02692:Serpina9 APN 12 103,974,665 (GRCm39) missense probably damaging 1.00
IGL03149:Serpina9 APN 12 103,974,869 (GRCm39) nonsense probably null
IGL03134:Serpina9 UTSW 12 103,967,696 (GRCm39) missense probably null 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
Predicted Primers PCR Primer
(F):5'- CCCTTGCCAGGGAGGACAAAGAA -3'
(R):5'- GTGTGAAAGTCCATGTAGTAGTGGGGA -3'

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