Incidental Mutation 'IGL00402:Spink8'
ID 6133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spink8
Ensembl Gene ENSMUSG00000050074
Gene Name serine peptidase inhibitor, Kazal type 8
Synonyms C630041L24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL00402
Quality Score
Status
Chromosome 9
Chromosomal Location 109641348-109655701 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109648287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 25 (I25F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118732] [ENSMUST00000198988] [ENSMUST00000200555]
AlphaFold Q09TK9
Predicted Effect probably benign
Transcript: ENSMUST00000055821
AA Change: I25F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052529
Gene: ENSMUSG00000050074
AA Change: I25F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
KAZAL 50 96 1.55e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118732
AA Change: I25F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112990
Gene: ENSMUSG00000050074
AA Change: I25F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Kazal_1 44 92 6.4e-9 PFAM
Pfam:Kazal_2 58 90 2e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198988
AA Change: I25F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142586
Gene: ENSMUSG00000050074
AA Change: I25F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
KAZAL 50 96 1.55e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200555
AA Change: I25F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,514,165 (GRCm39) L846H probably benign Het
Abca6 A T 11: 110,075,535 (GRCm39) L1319I probably damaging Het
Apob C T 12: 8,043,065 (GRCm39) probably benign Het
Atg16l2 A C 7: 100,945,360 (GRCm39) S268R probably benign Het
Atp1b3 T C 9: 96,215,756 (GRCm39) probably benign Het
Atxn7 T G 14: 14,096,324 (GRCm38) probably benign Het
Birc6 G A 17: 74,880,558 (GRCm39) probably benign Het
C4b G A 17: 34,953,402 (GRCm39) T1027I probably damaging Het
Caskin1 T C 17: 24,722,863 (GRCm39) I577T probably damaging Het
Cbx6 A G 15: 79,713,130 (GRCm39) V99A possibly damaging Het
Ccr9 A C 9: 123,609,109 (GRCm39) I252L probably benign Het
Cdh8 A T 8: 100,006,322 (GRCm39) D88E probably damaging Het
Cep135 T C 5: 76,749,306 (GRCm39) S258P probably damaging Het
Cep57l1 T G 10: 41,597,547 (GRCm39) probably benign Het
Cip2a T A 16: 48,822,178 (GRCm39) H234Q probably damaging Het
Col12a1 T C 9: 79,588,819 (GRCm39) T1099A possibly damaging Het
Col4a4 C T 1: 82,469,362 (GRCm39) G802D unknown Het
Ddx41 T C 13: 55,679,212 (GRCm39) T545A probably damaging Het
Disc1 A T 8: 125,815,014 (GRCm39) T293S probably benign Het
Fam13b A T 18: 34,587,771 (GRCm39) V509D probably damaging Het
Ffar4 C T 19: 38,095,837 (GRCm39) P192L probably benign Het
Fn1 C A 1: 71,680,322 (GRCm39) C461F probably damaging Het
Gm14226 G T 2: 154,867,078 (GRCm39) S345I probably damaging Het
Gopc T C 10: 52,225,326 (GRCm39) K308E probably damaging Het
Hapln2 A T 3: 87,931,641 (GRCm39) N28K possibly damaging Het
Hectd1 T C 12: 51,815,891 (GRCm39) S1394G possibly damaging Het
Hectd1 T C 12: 51,806,215 (GRCm39) H1807R probably benign Het
Ifnl2 A T 7: 28,208,290 (GRCm39) V193D possibly damaging Het
Il1rap T A 16: 26,541,151 (GRCm39) M464K possibly damaging Het
Krtap16-1 A T 11: 99,876,557 (GRCm39) C282* probably null Het
Ltv1 C T 10: 13,066,327 (GRCm39) V100I probably benign Het
Mcf2l T C 8: 13,050,857 (GRCm39) S308P probably damaging Het
Narf G A 11: 121,129,344 (GRCm39) probably null Het
Nmd3 T A 3: 69,652,573 (GRCm39) N386K possibly damaging Het
Noxo1 C T 17: 24,917,910 (GRCm39) probably benign Het
Or1e30 T A 11: 73,678,406 (GRCm39) I214N probably damaging Het
Ppic C T 18: 53,542,366 (GRCm39) G114D probably damaging Het
Ppp4r1 T C 17: 66,123,014 (GRCm39) S339P probably benign Het
Ptprg T A 14: 12,215,992 (GRCm38) L1147Q probably damaging Het
Qser1 A G 2: 104,617,326 (GRCm39) V1072A probably benign Het
Rad54l2 T A 9: 106,577,760 (GRCm39) M1054L probably benign Het
Scara5 A C 14: 65,975,864 (GRCm39) probably benign Het
Smtnl2 C T 11: 72,294,085 (GRCm39) probably benign Het
Vit G A 17: 78,909,336 (GRCm39) probably null Het
Vps13b A G 15: 35,926,372 (GRCm39) D3891G possibly damaging Het
Zfp207 T A 11: 80,283,911 (GRCm39) M277K probably benign Het
Zp2 T C 7: 119,732,623 (GRCm39) D641G probably benign Het
Other mutations in Spink8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Spink8 APN 9 109,649,665 (GRCm39) missense possibly damaging 0.46
R1474:Spink8 UTSW 9 109,649,706 (GRCm39) missense probably damaging 0.96
R3825:Spink8 UTSW 9 109,645,861 (GRCm39) missense probably damaging 0.99
R6978:Spink8 UTSW 9 109,649,725 (GRCm39) missense probably benign 0.43
R7709:Spink8 UTSW 9 109,645,848 (GRCm39) missense probably benign 0.15
Posted On 2012-04-20