Incidental Mutation 'IGL02175:Serpina1d'
ID283086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpina1d
Ensembl Gene ENSMUSG00000071177
Gene Nameserine (or cysteine) peptidase inhibitor, clade A, member 1D
SynonymsSpi1-4, PI4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #IGL02175
Quality Score
Status
Chromosome12
Chromosomal Location103763594-103773592 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 103765696 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000077909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078869] [ENSMUST00000164454]
Predicted Effect probably null
Transcript: ENSMUST00000078869
SMART Domains Protein: ENSMUSP00000077909
Gene: ENSMUSG00000071177

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
SERPIN 53 410 3.17e-200 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164454
SMART Domains Protein: ENSMUSP00000127266
Gene: ENSMUSG00000071178

DomainStartEndE-ValueType
SERPIN 53 410 7.62e-203 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,535,013 probably null Het
Adgrf5 A G 17: 43,451,010 I1199V probably damaging Het
Atm T A 9: 53,480,665 H1808L probably damaging Het
Cadps C T 14: 12,467,092 V942M probably damaging Het
Capns1 T C 7: 30,190,532 D116G probably benign Het
Ccdc110 T G 8: 45,940,623 M124R probably benign Het
Cdh23 T C 10: 60,331,308 N1855S possibly damaging Het
Dstyk T A 1: 132,449,391 L245* probably null Het
Dync2h1 A G 9: 7,111,548 Y289H possibly damaging Het
Efcab6 G A 15: 83,896,100 A1044V probably damaging Het
Egr1 T C 18: 34,863,055 S297P probably benign Het
Ercc6l2 T C 13: 63,869,190 probably benign Het
Frem2 C T 3: 53,655,599 A496T possibly damaging Het
Hook2 T A 8: 84,991,402 W53R probably damaging Het
Med19 T A 2: 84,678,663 probably null Het
Mgrn1 A G 16: 4,920,368 N262S probably benign Het
Nbas T G 12: 13,566,259 probably null Het
Ndc80 A C 17: 71,511,419 M314R probably benign Het
Nelfcd A T 2: 174,420,382 T89S probably benign Het
Nlrp4a A T 7: 26,475,097 E969D probably damaging Het
Ntrk3 A G 7: 78,247,228 V687A probably damaging Het
Oc90 A C 15: 65,883,825 S224R possibly damaging Het
Olfr1241 T C 2: 89,482,282 I284M possibly damaging Het
Plxnb1 C T 9: 109,100,846 H257Y possibly damaging Het
Prpf3 A G 3: 95,834,107 V579A probably damaging Het
Rarres1 T C 3: 67,495,756 N104S probably benign Het
Sik2 G A 9: 50,895,609 Q834* probably null Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Snx13 T A 12: 35,132,062 N703K possibly damaging Het
Spaca9 T C 2: 28,695,924 I43V probably benign Het
Tor1aip2 T C 1: 156,065,006 S353P probably damaging Het
Trmt1l T C 1: 151,448,484 S361P probably benign Het
Trpm2 T C 10: 77,937,907 H558R probably benign Het
Vmn1r75 T C 7: 11,880,847 C127R probably damaging Het
Zfp879 A T 11: 50,837,916 Y84N probably benign Het
Other mutations in Serpina1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Serpina1d APN 12 103763734 missense probably benign 0.00
IGL02336:Serpina1d APN 12 103764796 nonsense probably null
IGL03260:Serpina1d APN 12 103763849 missense probably damaging 0.98
BB008:Serpina1d UTSW 12 103767556 missense probably damaging 0.99
BB018:Serpina1d UTSW 12 103767556 missense probably damaging 0.99
R0119:Serpina1d UTSW 12 103765757 missense probably damaging 1.00
R0299:Serpina1d UTSW 12 103765757 missense probably damaging 1.00
R0348:Serpina1d UTSW 12 103763775 missense probably benign 0.05
R0499:Serpina1d UTSW 12 103765757 missense probably damaging 1.00
R1086:Serpina1d UTSW 12 103763787 missense probably benign
R1864:Serpina1d UTSW 12 103767997 missense probably benign 0.21
R1883:Serpina1d UTSW 12 103765778 missense possibly damaging 0.64
R1884:Serpina1d UTSW 12 103765778 missense possibly damaging 0.64
R3731:Serpina1d UTSW 12 103767905 missense possibly damaging 0.63
R3973:Serpina1d UTSW 12 103767848 missense probably benign 0.01
R3976:Serpina1d UTSW 12 103767848 missense probably benign 0.01
R4227:Serpina1d UTSW 12 103767481 missense probably benign 0.03
R4783:Serpina1d UTSW 12 103767824 missense possibly damaging 0.87
R5672:Serpina1d UTSW 12 103763842 missense possibly damaging 0.69
R5764:Serpina1d UTSW 12 103765821 missense probably benign 0.00
R6244:Serpina1d UTSW 12 103764828 splice site probably null
R6314:Serpina1d UTSW 12 103764700 missense probably benign 0.39
R6548:Serpina1d UTSW 12 103767552 missense probably damaging 1.00
R6554:Serpina1d UTSW 12 103764803 missense probably benign 0.09
R6953:Serpina1d UTSW 12 103767730 missense probably benign 0.00
R7106:Serpina1d UTSW 12 103765721 missense probably benign 0.01
R7390:Serpina1d UTSW 12 103767778 missense possibly damaging 0.86
R7931:Serpina1d UTSW 12 103767556 missense probably damaging 0.99
R8085:Serpina1d UTSW 12 103763828 missense probably damaging 1.00
Posted On2015-04-16