Incidental Mutation 'IGL00507:Gkn1'
ID 5411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gkn1
Ensembl Gene ENSMUSG00000030050
Gene Name gastrokine 1
Synonyms BRICD1, AMP-18, 2200002K21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00507
Quality Score
Status
Chromosome 6
Chromosomal Location 87322635-87327897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87323321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 164 (Y164C)
Ref Sequence ENSEMBL: ENSMUSP00000032129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032129]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000032129
AA Change: Y164C

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032129
Gene: ENSMUSG00000030050
AA Change: Y164C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 23 36 N/A INTRINSIC
BRICHOS 54 148 5.64e-37 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found to be down-regulated in human gastric cancer tissue as compared to normal gastric mucosa. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 C T 9: 54,529,712 (GRCm39) probably benign Het
Adgrb3 T A 1: 25,113,796 (GRCm39) R1450S possibly damaging Het
Apc A G 18: 34,449,979 (GRCm39) I2258V probably benign Het
Atxn2l C A 7: 126,095,756 (GRCm39) A374S possibly damaging Het
Cacna1a T A 8: 85,297,837 (GRCm39) Y1182* probably null Het
Cc2d1b G T 4: 108,486,927 (GRCm39) A647S probably damaging Het
Csn2 A G 5: 87,842,632 (GRCm39) S116P probably benign Het
Eya4 G A 10: 23,033,434 (GRCm39) Q163* probably null Het
Fam47c A T X: 77,781,931 (GRCm39) D171V probably benign Het
Fhdc1 A T 3: 84,356,107 (GRCm39) C446S probably damaging Het
Fkbp9 T A 6: 56,827,686 (GRCm39) V169E probably damaging Het
Fras1 A T 5: 96,926,048 (GRCm39) I3751F probably damaging Het
Hs3st5 T C 10: 36,708,918 (GRCm39) I151T probably benign Het
Ighv8-6 A T 12: 115,129,472 (GRCm39) S95T probably damaging Het
Loxhd1 A G 18: 77,420,263 (GRCm39) I296V probably benign Het
Lrrc66 T C 5: 73,764,457 (GRCm39) E862G probably benign Het
Ltbp3 T C 19: 5,806,044 (GRCm39) V934A probably damaging Het
Mpp3 A T 11: 101,892,929 (GRCm39) I501K possibly damaging Het
Mroh2b C T 15: 4,991,609 (GRCm39) T1569I probably damaging Het
Nup133 A T 8: 124,645,706 (GRCm39) Y626* probably null Het
Pak3 T A X: 142,572,329 (GRCm39) N477K probably damaging Het
Plod3 A G 5: 137,025,030 (GRCm39) H714R possibly damaging Het
Ppil1 T C 17: 29,470,675 (GRCm39) N102S probably damaging Het
Rapgef6 A T 11: 54,554,935 (GRCm39) R996* probably null Het
Scd3 G A 19: 44,224,273 (GRCm39) D169N probably damaging Het
Sgo2a T A 1: 58,055,753 (GRCm39) F646I probably damaging Het
Slc5a8 A G 10: 88,743,902 (GRCm39) Y346C possibly damaging Het
Slc7a15 A T 12: 8,585,474 (GRCm39) V49E probably damaging Het
Stard8 G A X: 98,112,941 (GRCm39) E649K probably damaging Het
Other mutations in Gkn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02314:Gkn1 APN 6 87,326,103 (GRCm39) missense probably benign 0.17
R1240:Gkn1 UTSW 6 87,326,098 (GRCm39) missense probably damaging 1.00
R1698:Gkn1 UTSW 6 87,324,151 (GRCm39) missense probably damaging 1.00
R1750:Gkn1 UTSW 6 87,326,105 (GRCm39) missense unknown
R5747:Gkn1 UTSW 6 87,323,319 (GRCm39) missense probably benign 0.01
R7220:Gkn1 UTSW 6 87,326,135 (GRCm39) splice site probably null
R7352:Gkn1 UTSW 6 87,325,100 (GRCm39) missense possibly damaging 0.94
R7799:Gkn1 UTSW 6 87,325,163 (GRCm39) missense probably damaging 1.00
R8986:Gkn1 UTSW 6 87,325,160 (GRCm39) missense probably damaging 1.00
R9447:Gkn1 UTSW 6 87,323,322 (GRCm39) missense probably benign 0.08
R9661:Gkn1 UTSW 6 87,325,173 (GRCm39) missense probably damaging 1.00
R9725:Gkn1 UTSW 6 87,323,289 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20