Incidental Mutation 'R3939:Serpina9'
ID 308613
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 040826-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # R3939 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 103962877-103979911 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 103975151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1 (M1L)
Ref Sequence ENSEMBL: ENSMUSP00000130064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058464] [ENSMUST00000164023]
AlphaFold Q9D7D2
Predicted Effect probably benign
Transcript: ENSMUST00000058464
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000058535
Gene: ENSMUSG00000058260
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 55 415 1.27e-158 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164023
AA Change: M1L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000130064
Gene: ENSMUSG00000058260
AA Change: M1L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 55 205 8.9e-4 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Cacnb4 C A 2: 52,359,501 (GRCm39) R169L probably damaging Het
Col13a1 T C 10: 61,698,861 (GRCm39) I491V unknown Het
Corin T C 5: 72,497,222 (GRCm39) D531G possibly damaging Het
Cx3cr1 C T 9: 119,880,710 (GRCm39) V231I probably benign Het
Dennd4c T G 4: 86,692,517 (GRCm39) V9G probably damaging Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Faf1 T G 4: 109,719,076 (GRCm39) L394R probably damaging Het
Fgfr4 G A 13: 55,304,307 (GRCm39) D116N probably null Het
Flt3 A G 5: 147,293,053 (GRCm39) Y518H possibly damaging Het
Frem3 T C 8: 81,341,649 (GRCm39) I1314T possibly damaging Het
Gk2 T A 5: 97,603,211 (GRCm39) L542F possibly damaging Het
Gm4922 T A 10: 18,660,362 (GRCm39) E120V probably damaging Het
Hip1 A T 5: 135,457,618 (GRCm39) I285N probably benign Het
Kcnd2 C A 6: 21,217,095 (GRCm39) D266E probably damaging Het
Kdr C T 5: 76,133,089 (GRCm39) W63* probably null Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Megf8 G A 7: 25,058,627 (GRCm39) V2208I probably benign Het
Neto2 G A 8: 86,400,747 (GRCm39) T16I probably damaging Het
Nktr T A 9: 121,578,135 (GRCm39) probably benign Het
Nrxn1 A G 17: 90,515,849 (GRCm39) I1207T probably damaging Het
Obox7 G A 7: 14,397,972 (GRCm39) G4D probably benign Het
Ogdh G A 11: 6,300,655 (GRCm39) W827* probably null Het
Or13g1 T C 7: 85,955,437 (GRCm39) M295V probably benign Het
Or4c118 T A 2: 88,974,474 (GRCm39) K298* probably null Het
Or4k15c A G 14: 50,321,173 (GRCm39) *322Q probably null Het
Pcdhga9 G A 18: 37,871,995 (GRCm39) R608H probably benign Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Sbpl T A 17: 24,172,617 (GRCm39) I101L probably benign Het
Stxbp6 A G 12: 44,949,641 (GRCm39) probably null Het
Synpo2 A G 3: 122,908,239 (GRCm39) V359A probably damaging Het
Ttyh1 T A 7: 4,132,317 (GRCm39) L155H probably damaging Het
Vil1 A G 1: 74,471,574 (GRCm39) D785G probably benign Het
Zfp345 G A 2: 150,314,473 (GRCm39) H355Y probably damaging 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
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
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'- TGACCTGGGTTTTCCTGAGC -3'
(R):5'- GTATCCCAGTTAGCATCAGCC -3'

Sequencing Primer
(F):5'- TGGGTTTTCCTGAGCCAGCC -3'
(R):5'- TGTGACCCATGCCAAGTTAC -3'
Posted On 2015-04-17