Incidental Mutation 'R1698:Gkn1'
ID 192403
Institutional Source Beutler Lab
Gene Symbol Gkn1
Ensembl Gene ENSMUSG00000030050
Gene Name gastrokine 1
Synonyms AMP-18, 2200002K21Rik, BRICD1
MMRRC Submission 039731-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1698 (G1)
Quality Score 213
Status Not validated
Chromosome 6
Chromosomal Location 87345650-87350942 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87347169 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 119 (Y119C)
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: Y119C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032129
Gene: ENSMUSG00000030050
AA Change: Y119C

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,645,158 (GRCm38) E340A possibly damaging Het
Abca13 A G 11: 9,314,507 (GRCm38) D2963G probably benign Het
Actn3 T C 19: 4,862,207 (GRCm38) D783G possibly damaging Het
Adamtsl2 A G 2: 27,103,127 (GRCm38) E723G possibly damaging Het
Agrn G T 4: 156,166,558 (GRCm38) Q1931K probably benign Het
Ankrd27 G A 7: 35,614,521 (GRCm38) A426T probably benign Het
Atg9b C A 5: 24,388,188 (GRCm38) G406C probably damaging Het
BC005561 C T 5: 104,520,510 (GRCm38) A966V probably benign Het
C1ra A T 6: 124,522,766 (GRCm38) Q637L probably benign Het
Cdhr2 A T 13: 54,719,581 (GRCm38) M438L probably benign Het
Cep350 T C 1: 155,953,358 (GRCm38) I267V possibly damaging Het
Chrna5 A G 9: 55,004,642 (GRCm38) Y138C probably damaging Het
Chst3 T A 10: 60,185,703 (GRCm38) M441L probably benign Het
Cmya5 G A 13: 93,063,519 (GRCm38) P3434S probably benign Het
Cog2 T A 8: 124,525,683 (GRCm38) L42Q probably damaging Het
Cpq A T 15: 33,250,126 (GRCm38) I210F probably benign Het
Crnn C A 3: 93,148,458 (GRCm38) Q184K probably damaging Het
Csnka2ip A T 16: 64,478,059 (GRCm38) Y647* probably null Het
D5Ertd579e C T 5: 36,604,530 (GRCm38) R1331H probably benign Het
Dennd5a C T 7: 109,917,380 (GRCm38) probably null Het
Dync1h1 A G 12: 110,626,992 (GRCm38) Q1231R possibly damaging Het
Erbin T A 13: 103,833,731 (GRCm38) I1126F possibly damaging Het
Fastkd1 T C 2: 69,702,469 (GRCm38) D518G probably benign Het
Gcc1 A G 6: 28,421,111 (GRCm38) L69P possibly damaging Het
Gmpr T G 13: 45,517,044 (GRCm38) W81G probably benign Het
Gyg T A 3: 20,138,051 (GRCm38) I236F probably benign Het
Hcrtr2 T C 9: 76,246,453 (GRCm38) Y219C probably damaging Het
Hmcn1 G A 1: 150,565,369 (GRCm38) Q5379* probably null Het
Kank1 T C 19: 25,411,317 (GRCm38) C785R probably benign Het
Lrp1b A T 2: 40,851,806 (GRCm38) C3036* probably null Het
Mdga2 T C 12: 66,689,335 (GRCm38) D373G probably damaging Het
Mgat2 A T 12: 69,185,719 (GRCm38) I356F probably benign Het
Miga2 A G 2: 30,377,997 (GRCm38) D346G probably damaging Het
Mprip T A 11: 59,760,258 (GRCm38) L1596Q possibly damaging Het
Mroh2b G A 15: 4,914,140 (GRCm38) R386Q probably benign Het
Mst1r T A 9: 107,919,980 (GRCm38) S1349R probably benign Het
Mtmr3 C T 11: 4,492,825 (GRCm38) R403H possibly damaging Het
Mycbpap G A 11: 94,508,143 (GRCm38) Q460* probably null Het
Myo9a T C 9: 59,868,181 (GRCm38) V1025A probably benign Het
Ncapd2 C T 6: 125,168,590 (GRCm38) E1365K probably null Het
Nkiras2 C A 11: 100,625,163 (GRCm38) D105E probably damaging Het
Nolc1 T G 19: 46,081,431 (GRCm38) probably null Het
Nos1 T C 5: 117,867,232 (GRCm38) F6L probably benign Het
Olfr1112 G T 2: 87,191,737 (GRCm38) V17L probably benign Het
Olfr1278 T A 2: 111,292,560 (GRCm38) C97* probably null Het
Olfr1369-ps1 C T 13: 21,116,565 (GRCm38) T291I probably benign Het
Olfr218 A T 1: 173,203,371 (GRCm38) N5I probably damaging Het
Olfr325 T C 11: 58,581,251 (GRCm38) Y136H probably damaging Het
Olfr910 T A 9: 38,539,256 (GRCm38) Y120* probably null Het
Pfkm A G 15: 98,128,318 (GRCm38) E598G possibly damaging Het
Phf2 A T 13: 48,807,630 (GRCm38) D861E unknown Het
Polr2a A G 11: 69,739,877 (GRCm38) probably null Het
Popdc2 G A 16: 38,369,491 (GRCm38) V167M probably damaging Het
Ptpn22 T C 3: 103,885,798 (GRCm38) S422P probably benign Het
Rasa2 T C 9: 96,568,375 (GRCm38) K490R possibly damaging Het
Rbfox3 T A 11: 118,495,221 (GRCm38) D286V probably damaging Het
Rdh13 A G 7: 4,427,791 (GRCm38) W223R probably damaging Het
Riok3 T C 18: 12,128,929 (GRCm38) S7P probably benign Het
Rnaseh2b A G 14: 62,353,632 (GRCm38) E144G probably benign Het
Rnf20 C T 4: 49,651,498 (GRCm38) Q655* probably null Het
Rpap2 T C 5: 107,603,550 (GRCm38) Y8H probably damaging Het
Slc5a10 T C 11: 61,709,602 (GRCm38) Y181C probably benign Het
Snd1 G T 6: 28,888,253 (GRCm38) G896* probably null Het
Spast C T 17: 74,356,160 (GRCm38) Q158* probably null Het
Tas2r104 G A 6: 131,685,584 (GRCm38) S54F probably damaging Het
Tcaf2 C T 6: 42,628,017 (GRCm38) W611* probably null Het
Timp4 G A 6: 115,250,403 (GRCm38) probably null Het
Tmem45a G A 16: 56,823,570 (GRCm38) S72L probably benign Het
Tnrc18 T C 5: 142,788,703 (GRCm38) T124A possibly damaging Het
Tns2 C T 15: 102,108,934 (GRCm38) R281C probably damaging Het
Ttn T C 2: 76,942,915 (GRCm38) D2381G probably damaging Het
Uevld T C 7: 46,955,624 (GRCm38) T41A possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Unc5d T C 8: 28,696,478 (GRCm38) E527G probably damaging Het
Vmn2r125 C T 4: 156,351,038 (GRCm38) T237I probably benign Het
Vmn2r63 A C 7: 42,933,614 (GRCm38) I59S probably benign Het
Vps72 G A 3: 95,118,695 (GRCm38) S106N probably benign Het
Zan A C 5: 137,409,669 (GRCm38) probably benign Het
Zbtb38 T C 9: 96,685,462 (GRCm38) K1190E probably benign Het
Zc3h6 T C 2: 129,017,358 (GRCm38) V1103A probably benign Het
Zfp407 G A 18: 84,562,157 (GRCm38) T277I probably damaging Het
Zfp804b A G 5: 6,769,509 (GRCm38) S1149P probably damaging Het
Other mutations in Gkn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Gkn1 APN 6 87,346,339 (GRCm38) missense probably damaging 0.99
IGL02314:Gkn1 APN 6 87,349,121 (GRCm38) missense probably benign 0.17
R1240:Gkn1 UTSW 6 87,349,116 (GRCm38) missense probably damaging 1.00
R1750:Gkn1 UTSW 6 87,349,123 (GRCm38) missense unknown
R5747:Gkn1 UTSW 6 87,346,337 (GRCm38) missense probably benign 0.01
R7220:Gkn1 UTSW 6 87,349,153 (GRCm38) splice site probably null
R7352:Gkn1 UTSW 6 87,348,118 (GRCm38) missense possibly damaging 0.94
R7799:Gkn1 UTSW 6 87,348,181 (GRCm38) missense probably damaging 1.00
R8986:Gkn1 UTSW 6 87,348,178 (GRCm38) missense probably damaging 1.00
R9447:Gkn1 UTSW 6 87,346,340 (GRCm38) missense probably benign 0.08
R9661:Gkn1 UTSW 6 87,348,191 (GRCm38) missense probably damaging 1.00
R9725:Gkn1 UTSW 6 87,346,307 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-14