Incidental Mutation 'IGL02511:Serpina1a'
ID296539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina1a
Ensembl Gene ENSMUSG00000066366
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 1A
SynonymsPI1, Aat2, Spi1-1, Aat-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02511
Quality Score
Status
Chromosome12
Chromosomal Location103853589-103863562 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 103855967 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 212 (W212*)
Ref Sequence ENSEMBL: ENSMUSP00000082132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072876] [ENSMUST00000085056] [ENSMUST00000124717]
Predicted Effect probably null
Transcript: ENSMUST00000072876
AA Change: W235*
SMART Domains Protein: ENSMUSP00000072652
Gene: ENSMUSG00000066366
AA Change: W235*

DomainStartEndE-ValueType
low complexity region 8 18 N/A INTRINSIC
SERPIN 53 410 1.09e-203 SMART
Predicted Effect probably null
Transcript: ENSMUST00000085056
AA Change: W212*
SMART Domains Protein: ENSMUSP00000082132
Gene: ENSMUSG00000066366
AA Change: W212*

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,861,766 probably benign Het
Adam3 T A 8: 24,695,176 D502V probably damaging Het
Adss T C 1: 177,771,134 probably benign Het
Ankrd36 T A 11: 5,660,845 probably null Het
Atf6b T C 17: 34,654,641 S692P probably benign Het
Cap2 T C 13: 46,531,022 M1T probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntn1 A T 15: 92,216,385 probably benign Het
Copg2 A T 6: 30,858,822 F218Y probably benign Het
Dll4 G A 2: 119,326,466 G73E probably damaging Het
Dzip3 T C 16: 48,936,980 M897V possibly damaging Het
Ehbp1 T C 11: 22,089,653 R816G probably damaging Het
Enoph1 T C 5: 100,061,035 L83P probably benign Het
Enpep A G 3: 129,321,410 S238P probably damaging Het
Fermt1 A C 2: 132,933,166 probably benign Het
Gm6619 T A 6: 131,490,367 I65K possibly damaging Het
Krtap31-2 T A 11: 99,936,692 C117S possibly damaging Het
Ksr1 T C 11: 79,045,220 D106G possibly damaging Het
Lgr4 A T 2: 110,011,272 Y534F probably benign Het
Mamdc2 T C 19: 23,378,731 T118A probably benign Het
Myo10 T A 15: 25,723,889 I170N probably damaging Het
Myom2 T C 8: 15,065,743 S53P probably benign Het
Npl T A 1: 153,515,481 D176V probably damaging Het
Nrm T C 17: 35,861,424 S14P probably damaging Het
Olfr1043 A G 2: 86,162,019 I310T probably benign Het
Olfr111 A G 17: 37,529,979 M1V probably null Het
Olfr495 T A 7: 108,396,058 F313I probably benign Het
Papola T A 12: 105,809,345 C204S probably damaging Het
Pard3 A T 8: 127,161,320 probably benign Het
Pdzd4 T A X: 73,794,600 M701L probably damaging Het
Pkhd1 A T 1: 20,073,507 V3865E possibly damaging Het
Plxna3 C A X: 74,335,385 Q712K probably damaging Het
Pon1 A G 6: 5,193,724 L9P probably damaging Het
Pygm A T 19: 6,385,688 I83F probably benign Het
Scyl2 A G 10: 89,640,819 S815P probably benign Het
Slc38a9 C A 13: 112,698,007 D239E possibly damaging Het
Smad6 A G 9: 63,953,577 F479L probably damaging Het
Smarcc2 T C 10: 128,461,382 S48P probably damaging Het
Ttn T A 2: 76,937,690 M3022L unknown Het
Tulp1 C A 17: 28,356,168 R441L probably benign Het
Ugt1a10 T C 1: 88,055,863 F128L probably damaging Het
Ulk4 A G 9: 121,188,354 V686A probably damaging Het
Ush2a T C 1: 188,743,687 probably null Het
Ushbp1 T C 8: 71,390,937 M286V probably null Het
Usp51 T G X: 153,008,730 I440R probably damaging Het
Wee1 G T 7: 110,139,276 R532L possibly damaging Het
Zfhx4 A G 3: 5,399,183 E1467G probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp551 A G 7: 12,416,675 V269A possibly damaging Het
Other mutations in Serpina1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Serpina1a APN 12 103854706 missense probably damaging 0.99
R0071:Serpina1a UTSW 12 103855743 missense probably benign 0.03
R1610:Serpina1a UTSW 12 103853837 missense possibly damaging 0.69
R1959:Serpina1a UTSW 12 103853800 nonsense probably null
R3107:Serpina1a UTSW 12 103853841 missense probably damaging 1.00
R3108:Serpina1a UTSW 12 103853841 missense probably damaging 1.00
R4303:Serpina1a UTSW 12 103854675 missense probably damaging 1.00
R4814:Serpina1a UTSW 12 103854763 missense probably benign 0.01
R6011:Serpina1a UTSW 12 103857469 missense probably damaging 0.97
R6547:Serpina1a UTSW 12 103855921 missense probably damaging 1.00
R6548:Serpina1a UTSW 12 103853758 missense probably benign 0.00
R6724:Serpina1a UTSW 12 103860420 intron probably benign
R6915:Serpina1a UTSW 12 103853851 missense possibly damaging 0.68
R6991:Serpina1a UTSW 12 103853833 missense probably benign 0.04
R7570:Serpina1a UTSW 12 103853837 missense possibly damaging 0.69
R7629:Serpina1a UTSW 12 103853808 missense probably damaging 1.00
Z1088:Serpina1a UTSW 12 103854667 critical splice donor site probably null
Posted On2015-04-16