Incidental Mutation 'R3107:Serpina1a'
ID 263634
Institutional Source Beutler Lab
Gene Symbol Serpina1a
Ensembl Gene ENSMUSG00000066366
Gene Name serine (or cysteine) peptidase inhibitor, clade A, member 1A
Synonyms Aat2, Aat-2, Spi1-1, PI1
MMRRC Submission 040581-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3107 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 103819848-103829821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103820100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 382 (I382N)
Ref Sequence ENSEMBL: ENSMUSP00000072652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072876] [ENSMUST00000085056] [ENSMUST00000124717]
AlphaFold P07758
Predicted Effect probably damaging
Transcript: ENSMUST00000072876
AA Change: I382N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: I382N

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 1.09e-203 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000085056
AA Change: I359N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: I359N

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 1.09e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124717
SMART Domains Protein: ENSMUSP00000120398
Gene: ENSMUSG00000066366

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
Pfam:Serpin 46 96 2.7e-16 PFAM
Meta Mutation Damage Score 0.8583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die prior to E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 A T 17: 42,977,758 (GRCm39) Y528* probably null Het
Ankrd26 A T 6: 118,533,204 (GRCm39) F198L probably benign Het
Arnt2 A G 7: 83,911,652 (GRCm39) S607P possibly damaging Het
Brd10 A T 19: 29,700,847 (GRCm39) L814H probably damaging Het
Ccdc17 T C 4: 116,455,464 (GRCm39) V269A probably benign Het
Cers1 T A 8: 70,775,286 (GRCm39) H233Q probably benign Het
Cfap54 T C 10: 92,830,545 (GRCm39) N1197S probably benign Het
Cfb A G 17: 35,080,800 (GRCm39) Y66H possibly damaging Het
Clspn A G 4: 126,485,452 (GRCm39) D1247G probably benign Het
Cnnm1 T C 19: 43,430,000 (GRCm39) C373R probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Cubn T C 2: 13,367,158 (GRCm39) S1571G possibly damaging Het
Ddt C T 10: 75,608,597 (GRCm39) E42K probably benign Het
Dmrt2 C A 19: 25,655,055 (GRCm39) T218N probably benign Het
Dnah7b G A 1: 46,392,033 (GRCm39) G3798E probably benign Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fam114a2 C A 11: 57,390,561 (GRCm39) K317N probably benign Het
Fyn G C 10: 39,427,451 (GRCm39) D445H probably damaging Het
Gprasp1 A T X: 134,700,508 (GRCm39) M234L probably benign Het
Ibtk T C 9: 85,592,467 (GRCm39) Y997C probably damaging Het
Il12rb2 A G 6: 67,337,782 (GRCm39) V33A probably damaging Het
Ints6 T C 14: 62,998,041 (GRCm39) T23A possibly damaging Het
Itk C A 11: 46,218,291 (GRCm39) G624V probably benign Het
Lama2 C T 10: 26,877,231 (GRCm39) E2652K probably benign Het
Mab21l3 T A 3: 101,734,112 (GRCm39) I109F probably damaging Het
Mov10 T C 3: 104,707,040 (GRCm39) E653G probably damaging Het
Or8b51 C T 9: 38,569,307 (GRCm39) C127Y possibly damaging Het
Plg T C 17: 12,603,316 (GRCm39) V74A probably benign Het
Ptprn2 A G 12: 116,839,800 (GRCm39) D441G probably benign Het
Rbmxl2 G A 7: 106,809,624 (GRCm39) G303E probably damaging Het
Satb1 A T 17: 52,089,810 (GRCm39) Y346N possibly damaging Het
Slc6a2 C A 8: 93,687,906 (GRCm39) Q11K probably benign Het
Slc6a20a A C 9: 123,470,773 (GRCm39) probably null Het
Sorcs1 T C 19: 50,199,088 (GRCm39) E825G possibly damaging Het
Sval1 C G 6: 41,932,876 (GRCm39) P145A probably damaging Het
Trhde C T 10: 114,427,971 (GRCm39) E442K probably damaging Het
Vmn2r61 A T 7: 41,916,491 (GRCm39) D368V possibly damaging Het
Other mutations in Serpina1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Serpina1a APN 12 103,820,965 (GRCm39) missense probably damaging 0.99
IGL02511:Serpina1a APN 12 103,822,226 (GRCm39) nonsense probably null
R0071:Serpina1a UTSW 12 103,822,002 (GRCm39) missense probably benign 0.03
R1610:Serpina1a UTSW 12 103,820,096 (GRCm39) missense possibly damaging 0.69
R1959:Serpina1a UTSW 12 103,820,059 (GRCm39) nonsense probably null
R3108:Serpina1a UTSW 12 103,820,100 (GRCm39) missense probably damaging 1.00
R4303:Serpina1a UTSW 12 103,820,934 (GRCm39) missense probably damaging 1.00
R4814:Serpina1a UTSW 12 103,821,022 (GRCm39) missense probably benign 0.01
R6011:Serpina1a UTSW 12 103,823,728 (GRCm39) missense probably damaging 0.97
R6547:Serpina1a UTSW 12 103,822,180 (GRCm39) missense probably damaging 1.00
R6548:Serpina1a UTSW 12 103,820,017 (GRCm39) missense probably benign 0.00
R6724:Serpina1a UTSW 12 103,826,679 (GRCm39) intron probably benign
R6915:Serpina1a UTSW 12 103,820,110 (GRCm39) missense possibly damaging 0.68
R6991:Serpina1a UTSW 12 103,820,092 (GRCm39) missense probably benign 0.04
R7570:Serpina1a UTSW 12 103,820,096 (GRCm39) missense possibly damaging 0.69
R7629:Serpina1a UTSW 12 103,820,067 (GRCm39) missense probably damaging 1.00
R8353:Serpina1a UTSW 12 103,822,038 (GRCm39) missense probably benign 0.01
R8556:Serpina1a UTSW 12 103,822,229 (GRCm39) missense probably damaging 1.00
R8909:Serpina1a UTSW 12 103,820,938 (GRCm39) missense probably damaging 0.97
R9021:Serpina1a UTSW 12 103,824,293 (GRCm39) missense probably benign 0.01
R9058:Serpina1a UTSW 12 103,820,001 (GRCm39) missense possibly damaging 0.94
R9786:Serpina1a UTSW 12 103,822,140 (GRCm39) missense possibly damaging 0.93
Z1088:Serpina1a UTSW 12 103,820,926 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCAGCCTGTGTTTAATGGAAGG -3'
(R):5'- TTAAGTGGTCACCGTGAAAGGG -3'

Sequencing Primer
(F):5'- CCTGTGTTTAATGGAAGGAACCC -3'
(R):5'- TCACCGTGAAAGGGGTCTG -3'
Posted On 2015-02-05