Incidental Mutation 'R6991:Serpina1a'
ID 543861
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 045097-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6991 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 103819848-103829821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103820092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 385 (T385A)
Ref Sequence ENSEMBL: ENSMUSP00000072652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072876] [ENSMUST00000085056] [ENSMUST00000124717]
AlphaFold P07758
Predicted Effect probably benign
Transcript: ENSMUST00000072876
AA Change: T385A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: T385A

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 1.09e-203 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085056
AA Change: T362A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: T362A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,279,871 (GRCm39) V278D probably damaging Het
Akap12 G T 10: 4,307,122 (GRCm39) E1311* probably null Het
Ankdd1a T A 9: 65,415,957 (GRCm39) D186V probably benign Het
Birc6 A G 17: 74,869,090 (GRCm39) E346G probably damaging Het
Brd10 A G 19: 29,696,508 (GRCm39) L995S possibly damaging Het
Ccr7 A C 11: 99,036,130 (GRCm39) V264G probably damaging Het
Col7a1 T C 9: 108,812,987 (GRCm39) probably null Het
Coq8a T C 1: 180,006,633 (GRCm39) T132A probably benign Het
Cplane1 A G 15: 8,281,690 (GRCm39) E2843G unknown Het
Cyp2b10 G A 7: 25,616,780 (GRCm39) S407N probably benign Het
Ddi2 A G 4: 141,412,561 (GRCm39) V117A probably benign Het
Ddx42 G A 11: 106,129,970 (GRCm39) V421I probably damaging Het
Dip2c T A 13: 9,601,896 (GRCm39) L285* probably null Het
Dip2c C T 13: 9,684,868 (GRCm39) S1232F probably damaging Het
Dner T A 1: 84,454,123 (GRCm39) R402* probably null Het
Dpysl3 A T 18: 43,486,956 (GRCm39) I317N probably damaging Het
Dusp23 T A 1: 172,459,224 (GRCm39) Y146F probably benign Het
Eef1a2 C A 2: 180,790,421 (GRCm39) V412L possibly damaging Het
Epha7 C T 4: 28,821,489 (GRCm39) T218I probably damaging Het
Gigyf2 T A 1: 87,334,858 (GRCm39) C284S probably damaging Het
Golm1 ACTTCTTCT ACTTCT 13: 59,797,390 (GRCm39) probably benign Het
Hao2 T A 3: 98,784,068 (GRCm39) E327V probably damaging Het
Hdhd5 A G 6: 120,487,130 (GRCm39) V409A probably damaging Het
Kif9 T C 9: 110,323,690 (GRCm39) Y236H probably damaging Het
Kri1 T C 9: 21,199,050 (GRCm39) probably benign Het
Lig4 A T 8: 10,021,098 (GRCm39) V894E probably damaging Het
Lrriq1 T C 10: 103,023,319 (GRCm39) N982S probably damaging Het
Mapk8 T C 14: 33,132,841 (GRCm39) I32V possibly damaging Het
Mast4 C T 13: 102,941,155 (GRCm39) V301I probably damaging Het
Mstn T C 1: 53,101,100 (GRCm39) I59T probably benign Het
Mtrf1l T C 10: 5,763,384 (GRCm39) E315G probably damaging Het
Notch4 G T 17: 34,803,774 (GRCm39) E1515* probably null Het
Npw A C 17: 24,877,029 (GRCm39) V124G probably benign Het
Nxph3 A G 11: 95,402,244 (GRCm39) S57P probably damaging Het
Opn4 A T 14: 34,315,864 (GRCm39) L390M probably benign Het
Or12e10 G A 2: 87,640,787 (GRCm39) D208N possibly damaging Het
Or52e4 T C 7: 104,705,771 (GRCm39) I106T probably damaging Het
Or5b95 G T 19: 12,658,112 (GRCm39) L213F probably benign Het
Or5g23 T C 2: 85,438,592 (GRCm39) I221V possibly damaging Het
Or5p68 T A 7: 107,945,295 (GRCm39) N298Y possibly damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2g2e G A 4: 138,607,986 (GRCm39) C62Y probably damaging Het
Plcb4 G A 2: 135,752,114 (GRCm39) V107M probably damaging Het
Pramel33 T A 5: 93,632,233 (GRCm39) N107I probably damaging Het
Prorsd1 A C 11: 29,464,486 (GRCm39) probably benign Het
Prox2 A G 12: 85,134,165 (GRCm39) L587P probably benign Het
Prr22 A G 17: 57,078,345 (GRCm39) D166G possibly damaging Het
Ptprz1 G A 6: 23,002,686 (GRCm39) R1592Q probably benign Het
Rarg C G 15: 102,150,350 (GRCm39) R74P probably damaging Het
Rcan1 A G 16: 92,194,251 (GRCm39) V54A probably benign Het
Rmdn2 A G 17: 79,928,739 (GRCm39) probably benign Het
Sec16a G A 2: 26,320,498 (GRCm39) R1361C probably damaging Het
Slc44a3 T C 3: 121,325,814 (GRCm39) Y12C probably benign Het
Smg1 C A 7: 117,767,091 (GRCm39) probably benign Het
Spock3 A G 8: 63,808,415 (GRCm39) *437W probably null Het
Sugct T A 13: 17,728,965 (GRCm39) Q220H probably benign Het
Tesk1 A G 4: 43,447,006 (GRCm39) T465A probably benign Het
Tnks C A 8: 35,301,647 (GRCm39) R1274I probably damaging Het
Trp53bp1 C T 2: 121,038,521 (GRCm39) R1439H probably damaging Het
Vmn1r16 G T 6: 57,299,869 (GRCm39) S251* probably null Het
Vmn2r15 T A 5: 109,441,180 (GRCm39) Q226L probably damaging Het
Vmn2r67 T G 7: 84,804,953 (GRCm39) Y53S possibly damaging Het
Vmn2r99 A G 17: 19,598,372 (GRCm39) N132S probably benign Het
Wdr73 T G 7: 80,541,604 (GRCm39) T313P probably benign Het
Zfp65 C T 13: 67,856,640 (GRCm39) R213Q probably 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
R3107:Serpina1a UTSW 12 103,820,100 (GRCm39) missense probably damaging 1.00
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
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'- GCCTGTGTTTAATGGAAGGAAC -3'
(R):5'- TTAAGTGGTCACCGTGAAAGGG -3'

Sequencing Primer
(F):5'- GTTTAATGGAAGGAACCCAATTCAG -3'
(R):5'- TCACCGTGAAAGGGGTCTG -3'
Posted On 2019-05-13