Incidental Mutation 'IGL00731:Spink12'
ID 29385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spink12
Ensembl Gene ENSMUSG00000061144
Gene Name serine peptidase inhibitor, Kazal type 12
Synonyms 9230117E20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00731
Quality Score
Status
Chromosome 18
Chromosomal Location 44237474-44241610 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) G to A at 44241177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080025 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081271]
AlphaFold Q9D256
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
Aars1 A G 8: 111,771,501 (GRCm39) probably benign Het
Adcy10 T C 1: 165,400,183 (GRCm39) F1531L probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Dab2 T C 15: 6,465,191 (GRCm39) S463P possibly damaging Het
Ehf C T 2: 103,097,185 (GRCm39) probably null Het
Fnbp4 G T 2: 90,598,987 (GRCm39) V704L probably benign Het
Gbp7 T C 3: 142,252,189 (GRCm39) S591P probably benign Het
Gpr155 A G 2: 73,192,957 (GRCm39) L498P probably damaging Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Klk1b21 A G 7: 43,755,347 (GRCm39) E182G possibly damaging Het
Npat G A 9: 53,473,386 (GRCm39) E393K probably damaging Het
Npnt C T 3: 132,610,418 (GRCm39) probably null Het
Pde2a A G 7: 101,157,306 (GRCm39) Y693C probably benign Het
Ralgapa1 A G 12: 55,749,237 (GRCm39) S1269P possibly damaging Het
Rasal2 A C 1: 156,985,334 (GRCm39) D804E probably benign Het
Rdh10 A G 1: 16,178,099 (GRCm39) N124D probably benign Het
Slit3 G T 11: 35,512,981 (GRCm39) D536Y probably damaging Het
Snx24 C T 18: 53,517,681 (GRCm39) probably benign Het
Other mutations in Spink12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Spink12 APN 18 44,240,872 (GRCm39) missense probably damaging 1.00
IGL01694:Spink12 APN 18 44,240,827 (GRCm39) missense probably damaging 1.00
IGL02379:Spink12 APN 18 44,239,575 (GRCm39) splice site probably benign
IGL02702:Spink12 APN 18 44,237,836 (GRCm39) missense probably benign 0.00
R0001:Spink12 UTSW 18 44,240,763 (GRCm39) missense probably damaging 1.00
R0002:Spink12 UTSW 18 44,240,763 (GRCm39) missense probably damaging 1.00
R0043:Spink12 UTSW 18 44,240,763 (GRCm39) missense probably damaging 1.00
R0043:Spink12 UTSW 18 44,240,763 (GRCm39) missense probably damaging 1.00
R0565:Spink12 UTSW 18 44,237,755 (GRCm39) nonsense probably null
R0639:Spink12 UTSW 18 44,240,831 (GRCm39) nonsense probably null
R1636:Spink12 UTSW 18 44,240,795 (GRCm39) missense probably benign 0.10
R4073:Spink12 UTSW 18 44,237,731 (GRCm39) missense possibly damaging 0.53
R5398:Spink12 UTSW 18 44,240,794 (GRCm39) missense possibly damaging 0.46
R7620:Spink12 UTSW 18 44,237,684 (GRCm39) start gained probably benign
Z1192:Spink12 UTSW 18 44,237,775 (GRCm39) missense probably benign
Posted On 2013-04-17