Incidental Mutation 'R5993:Serpina3j'
ID 480958
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 044172-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5993 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 104280812-104286984 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104280946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 40 (T40A)
Ref Sequence ENSEMBL: ENSMUSP00000105583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109957]
AlphaFold D3Z451
Predicted Effect probably benign
Transcript: ENSMUST00000109957
AA Change: T40A

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105583
Gene: ENSMUSG00000079013
AA Change: T40A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SERPIN 56 417 6.65e-153 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G T 15: 94,236,604 (GRCm39) N805K probably damaging Het
Add1 A C 5: 34,758,877 (GRCm39) S64R probably damaging Het
Alas1 A G 9: 106,111,328 (GRCm39) F613L probably benign Het
Ankrd17 A T 5: 90,487,531 (GRCm39) probably benign Het
Anks3 C T 16: 4,776,001 (GRCm39) G67D probably damaging Het
Aspm C T 1: 139,407,269 (GRCm39) T2052I probably benign Het
Atp8b4 C T 2: 126,245,154 (GRCm39) V332I probably benign Het
Bin2 CGGAGCTGA C 15: 100,542,901 (GRCm39) probably null Het
Bpifb3 T A 2: 153,771,234 (GRCm39) M382K probably benign Het
Ccdc149 C T 5: 52,560,117 (GRCm39) R246Q probably damaging Het
Ccdc57 T C 11: 120,785,550 (GRCm39) K462E possibly damaging Het
Cux1 T C 5: 136,392,125 (GRCm39) T9A probably benign Het
Cyp2c23 A G 19: 44,000,799 (GRCm39) Y362H probably damaging Het
D430041D05Rik A G 2: 103,998,412 (GRCm39) I998T probably damaging Het
Dclre1a A C 19: 56,531,169 (GRCm39) Y726D probably damaging Het
Dnah5 T C 15: 28,299,372 (GRCm39) V1578A probably benign Het
Dppa4 C T 16: 48,109,709 (GRCm39) R110* probably null Het
Drc7 T A 8: 95,800,820 (GRCm39) V614E probably benign Het
Garin2 C A 12: 78,762,210 (GRCm39) N12K probably damaging Het
Gcc1 G A 6: 28,424,851 (GRCm39) probably null Het
Greb1l G A 18: 10,544,455 (GRCm39) D1350N probably benign Het
Kcnc1 G A 7: 46,076,956 (GRCm39) V253M probably damaging Het
Krt78 T A 15: 101,858,884 (GRCm39) I323F probably damaging Het
Man2b2 A G 5: 36,978,324 (GRCm39) V320A probably benign Het
Mphosph9 A T 5: 124,454,161 (GRCm39) F112Y probably benign Het
Mrc1 A G 2: 14,310,138 (GRCm39) T800A probably damaging Het
Mroh1 C A 15: 76,330,880 (GRCm39) A1197E probably damaging Het
Nlrp10 A T 7: 108,526,220 (GRCm39) H39Q probably benign Het
Nop2 C T 6: 125,120,982 (GRCm39) T588I probably benign Het
Oxld1 A G 11: 120,347,835 (GRCm39) S121P probably benign Het
Pakap A G 4: 57,855,273 (GRCm39) K444E possibly damaging Het
Prox1 T A 1: 189,894,436 (GRCm39) D3V probably damaging Het
Ptk7 T C 17: 46,876,296 (GRCm39) T1052A probably benign Het
Rhot2 T A 17: 26,060,085 (GRCm39) T299S probably benign Het
Rhov A G 2: 119,100,533 (GRCm39) F235L probably damaging Het
Runx1t1 A T 4: 13,841,863 (GRCm39) R158S probably damaging Het
Runx1t1 A T 4: 13,875,490 (GRCm39) E431D probably benign Het
Sema3e A G 5: 14,274,307 (GRCm39) E186G probably damaging Het
Sema5b T A 16: 35,466,572 (GRCm39) L158H probably damaging Het
Shroom3 A T 5: 93,088,047 (GRCm39) S185C probably damaging Het
Skint6 A T 4: 112,666,276 (GRCm39) V1183D probably benign Het
Smg1 A G 7: 117,739,732 (GRCm39) V3405A probably benign Het
Supt16 C A 14: 52,415,791 (GRCm39) R357L probably damaging Het
Thrap3 A T 4: 126,069,253 (GRCm39) probably null Het
Topaz1 T C 9: 122,578,104 (GRCm39) L338S probably benign Het
Ttll3 T A 6: 113,374,992 (GRCm39) Y139* probably null Het
Ttn T G 2: 76,626,251 (GRCm39) D6641A probably damaging Het
Wwc1 T C 11: 35,743,163 (GRCm39) D886G probably benign Het
Zc3h7a T A 16: 10,968,526 (GRCm39) K484N probably damaging 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
R3808:Serpina3j UTSW 12 104,286,086 (GRCm39) missense probably benign 0.14
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
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'- AGCGTTTGTGCCCATCTCTG -3'
(R):5'- AGAATCTCTTCCAGAGTGTTGCC -3'

Sequencing Primer
(F):5'- TCCTAACCCTGTGAGACTGGAATG -3'
(R):5'- CCTTTGCTCCCAGGGACAG -3'
Posted On 2017-06-26