Incidental Mutation 'R3808:Serpina3j'
ID 275061
Institutional Source Beutler Lab
Gene Symbol Serpina3j
Ensembl Gene ENSMUSG00000079013
Gene Name serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J
Synonyms alpha-1 antiproteinase, Gm4931
MMRRC Submission 040765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R3808 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 104280812-104286984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104286086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 414 (I414F)
Ref Sequence ENSEMBL: ENSMUSP00000105583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109957]
AlphaFold D3Z451
Predicted Effect probably benign
Transcript: ENSMUST00000109957
AA Change: I414F

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: I414F

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 6.65e-153 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Aldh3a2 G T 11: 61,149,623 (GRCm39) L248M probably damaging Het
Als2 A G 1: 59,209,609 (GRCm39) S1458P probably benign Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Arhgap5 A G 12: 52,613,970 (GRCm39) E192G possibly damaging Het
Atg2a A G 19: 6,302,846 (GRCm39) K1019R possibly damaging Het
Atp2b1 A G 10: 98,839,010 (GRCm39) K613E possibly damaging Het
Carm1 T C 9: 21,498,258 (GRCm39) C421R probably damaging Het
Cdh17 A T 4: 11,795,671 (GRCm39) Y417F probably damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Clptm1l A C 13: 73,760,573 (GRCm39) M319L probably benign Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Creb3l2 A G 6: 37,332,625 (GRCm39) S290P probably damaging Het
Dock4 T G 12: 40,722,809 (GRCm39) V305G probably damaging Het
Dtl A C 1: 191,280,466 (GRCm39) L356R probably damaging Het
Eftud2 A T 11: 102,732,289 (GRCm39) probably null Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Fat4 T G 3: 39,036,587 (GRCm39) V3413G possibly damaging Het
Fgfr2 T C 7: 129,801,578 (GRCm39) M218V probably benign Het
Grin2b A G 6: 135,900,269 (GRCm39) L204P probably damaging Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Lrp4 T A 2: 91,307,047 (GRCm39) D389E probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Nbea T C 3: 55,625,269 (GRCm39) N2274S probably benign Het
Nr3c2 G A 8: 77,635,343 (GRCm39) G148D probably damaging Het
Or10s1 A T 9: 39,985,605 (GRCm39) M5L probably benign Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Plin3 C A 17: 56,593,275 (GRCm39) A96S probably damaging Het
Pnck T A X: 72,700,550 (GRCm39) I288F probably damaging Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Prss43 A T 9: 110,656,840 (GRCm39) R115S probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rdh16f1 T A 10: 127,624,568 (GRCm39) D135E probably benign Het
Rdh16f1 G A 10: 127,624,569 (GRCm39) V136M probably damaging Het
Rgs12 A G 5: 35,189,698 (GRCm39) E702G probably damaging Het
Rnf213 A G 11: 119,370,384 (GRCm39) K4728E probably damaging Het
Ros1 T G 10: 51,996,944 (GRCm39) T1243P probably benign Het
Sall1 G A 8: 89,758,101 (GRCm39) Q668* probably null Het
Sbf2 C A 7: 110,088,487 (GRCm39) *45L probably null Het
Sh2d3c T C 2: 32,636,108 (GRCm39) Y159H probably damaging Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc22a13 T C 9: 119,025,143 (GRCm39) T178A probably benign Het
Smchd1 A T 17: 71,736,536 (GRCm39) L588H probably damaging Het
Trim12a G A 7: 103,956,201 (GRCm39) A113V probably benign Het
Vil1 T C 1: 74,466,772 (GRCm39) V654A probably benign Het
Vmn1r202 T C 13: 22,686,070 (GRCm39) T116A possibly damaging Het
Zfp267 T G 3: 36,219,792 (GRCm39) probably null Het
Zfp607a G A 7: 27,578,826 (GRCm39) R632H probably benign Het
Other mutations in Serpina3j
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01783:Serpina3j APN 12 104,284,750 (GRCm39) missense probably damaging 1.00
IGL01923:Serpina3j APN 12 104,281,473 (GRCm39) splice site probably benign
IGL01965:Serpina3j APN 12 104,281,063 (GRCm39) missense probably benign
IGL03135:Serpina3j APN 12 104,281,166 (GRCm39) missense probably damaging 1.00
IGL03242:Serpina3j APN 12 104,285,960 (GRCm39) missense possibly damaging 0.88
R0036:Serpina3j UTSW 12 104,283,606 (GRCm39) missense probably benign 0.08
R0638:Serpina3j UTSW 12 104,281,078 (GRCm39) missense possibly damaging 0.93
R0648:Serpina3j UTSW 12 104,280,938 (GRCm39) missense probably benign 0.01
R1874:Serpina3j UTSW 12 104,285,958 (GRCm39) missense probably benign 0.00
R2212:Serpina3j UTSW 12 104,280,985 (GRCm39) missense probably damaging 0.99
R3013:Serpina3j UTSW 12 104,285,966 (GRCm39) missense probably damaging 1.00
R3928:Serpina3j UTSW 12 104,285,916 (GRCm39) missense probably damaging 1.00
R4234:Serpina3j UTSW 12 104,281,445 (GRCm39) missense probably benign 0.14
R4966:Serpina3j UTSW 12 104,286,043 (GRCm39) nonsense probably null
R5373:Serpina3j UTSW 12 104,280,986 (GRCm39) missense probably damaging 1.00
R5374:Serpina3j UTSW 12 104,280,986 (GRCm39) missense probably damaging 1.00
R5771:Serpina3j UTSW 12 104,281,185 (GRCm39) missense possibly damaging 0.71
R5993:Serpina3j UTSW 12 104,280,946 (GRCm39) missense probably benign 0.26
R6151:Serpina3j UTSW 12 104,283,649 (GRCm39) missense possibly damaging 0.69
R6246:Serpina3j UTSW 12 104,283,706 (GRCm39) missense probably damaging 1.00
R6982:Serpina3j UTSW 12 104,283,556 (GRCm39) missense probably benign 0.31
R7111:Serpina3j UTSW 12 104,283,792 (GRCm39) missense probably damaging 1.00
R8183:Serpina3j UTSW 12 104,284,754 (GRCm39) nonsense probably null
R8411:Serpina3j UTSW 12 104,281,043 (GRCm39) missense probably benign 0.06
R8915:Serpina3j UTSW 12 104,281,309 (GRCm39) missense probably benign 0.00
R9489:Serpina3j UTSW 12 104,286,093 (GRCm39) missense probably damaging 0.97
R9605:Serpina3j UTSW 12 104,286,093 (GRCm39) missense probably damaging 0.97
R9750:Serpina3j UTSW 12 104,280,942 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGATGTTTCACAGCGCTGC -3'
(R):5'- AAAGACAGGTTTTAGGCTCAGG -3'

Sequencing Primer
(F):5'- TGCGCTGGACATGACTGAGAC -3'
(R):5'- CTCAGGAATATGAGCTAGAGTTGCC -3'
Posted On 2015-04-02