Incidental Mutation 'IGL00731:Spink12'
ID29385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spink12
Ensembl Gene ENSMUSG00000061144
Gene Nameserine peptidase inhibitor, Kazal type 12
Synonyms9230117E20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00731
Quality Score
Status
Chromosome18
Chromosomal Location44104407-44108543 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) G to A at 44108110 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081271]
Predicted Effect probably benign
Transcript: ENSMUST00000081271
SMART Domains Protein: ENSMUSP00000080025
Gene: ENSMUSG00000061144

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
KAZAL 49 105 4.52e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars A G 8: 111,044,869 probably benign Het
Adcy10 T C 1: 165,572,614 F1531L probably benign Het
Dab2 T C 15: 6,435,710 S463P possibly damaging Het
Ehf C T 2: 103,266,840 probably null Het
Fnbp4 G T 2: 90,768,643 V704L probably benign Het
Gbp7 T C 3: 142,546,428 S591P probably benign Het
Gpr155 A G 2: 73,362,613 L498P probably damaging Het
Igll1 T C 16: 16,860,919 T176A probably benign Het
Klk1b21 A G 7: 44,105,923 E182G possibly damaging Het
Mb21d1 G A 9: 78,435,488 P344L probably damaging Het
Npat G A 9: 53,562,086 E393K probably damaging Het
Npnt C T 3: 132,904,657 probably null Het
Pde2a A G 7: 101,508,099 Y693C probably benign Het
Ralgapa1 A G 12: 55,702,452 S1269P possibly damaging Het
Rasal2 A C 1: 157,157,764 D804E probably benign Het
Rdh10 A G 1: 16,107,875 N124D probably benign Het
Slit3 G T 11: 35,622,154 D536Y probably damaging Het
Snx24 C T 18: 53,384,609 probably benign Het
Other mutations in Spink12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Spink12 APN 18 44107805 missense probably damaging 1.00
IGL01694:Spink12 APN 18 44107760 missense probably damaging 1.00
IGL02379:Spink12 APN 18 44106508 splice site probably benign
IGL02702:Spink12 APN 18 44104769 missense probably benign 0.00
R0001:Spink12 UTSW 18 44107696 missense probably damaging 1.00
R0002:Spink12 UTSW 18 44107696 missense probably damaging 1.00
R0043:Spink12 UTSW 18 44107696 missense probably damaging 1.00
R0043:Spink12 UTSW 18 44107696 missense probably damaging 1.00
R0565:Spink12 UTSW 18 44104688 nonsense probably null
R0639:Spink12 UTSW 18 44107764 nonsense probably null
R1636:Spink12 UTSW 18 44107728 missense probably benign 0.10
R4073:Spink12 UTSW 18 44104664 missense possibly damaging 0.53
R5398:Spink12 UTSW 18 44107727 missense possibly damaging 0.46
R7620:Spink12 UTSW 18 44104617 start gained probably benign
Posted On2013-04-17