Incidental Mutation 'R5747:Gkn1'
ID445817
Institutional Source Beutler Lab
Gene Symbol Gkn1
Ensembl Gene ENSMUSG00000030050
Gene Namegastrokine 1
SynonymsAMP-18, 2200002K21Rik, BRICD1
MMRRC Submission 043354-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5747 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location87345650-87350942 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87346337 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 165 (T165S)
Ref Sequence ENSEMBL: ENSMUSP00000032129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032129]
Predicted Effect probably benign
Transcript: ENSMUST00000032129
AA Change: T165S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000032129
Gene: ENSMUSG00000030050
AA Change: T165S

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 23 36 N/A INTRINSIC
BRICHOS 54 148 5.64e-37 SMART
Meta Mutation Damage Score 0.116 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (54/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A T 1: 25,826,562 Y67N probably damaging Het
Akap8l T C 17: 32,345,378 T12A probably damaging Het
Anapc1 A G 2: 128,624,916 V1620A probably benign Het
Ank2 A G 3: 126,941,751 probably benign Het
Ankrd34c C T 9: 89,729,761 V176M possibly damaging Het
Arhgap39 C T 15: 76,741,535 D190N possibly damaging Het
Cbl A G 9: 44,201,119 L93P probably damaging Het
Crebl2 C T 6: 134,851,140 L92F probably damaging Het
Dclre1a A G 19: 56,541,532 V791A probably damaging Het
Dzip1l T A 9: 99,639,809 probably null Het
Echs1 T C 7: 140,111,812 probably benign Het
Epha4 A G 1: 77,506,883 I163T probably damaging Het
Fdft1 A G 14: 63,146,839 S388P probably damaging Het
Gbx2 A G 1: 89,928,715 S318P probably damaging Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gm10801 G C 2: 98,664,007 R143T possibly damaging Het
Gm5093 T G 17: 46,439,990 E37A possibly damaging Het
Gm527 A T 12: 64,920,846 N14I probably damaging Het
Gm6803 C T 12: 88,018,596 C59Y possibly damaging Het
Gnaz C T 10: 74,991,403 probably benign Het
Grik2 T C 10: 49,523,774 T287A probably benign Het
Gtf2h4 T C 17: 35,670,381 Y220C possibly damaging Het
Igkv8-28 T C 6: 70,144,157 E2G probably benign Het
Itgbl1 T A 14: 123,972,164 Y318* probably null Het
Kcnh5 T C 12: 74,898,420 E685G probably benign Het
Kctd18 A T 1: 57,962,024 probably benign Het
Ldhal6b A C 17: 5,417,819 V280G probably damaging Het
Ldhd T C 8: 111,629,071 T182A probably damaging Het
Lman2l T C 1: 36,424,957 D272G possibly damaging Het
Lrrc63 T C 14: 75,126,464 T76A probably benign Het
Map3k3 A G 11: 106,150,410 T402A probably benign Het
Mdga1 C T 17: 29,850,551 D174N probably benign Het
Mob4 A G 1: 55,148,578 M68V probably damaging Het
Olfr344 A T 2: 36,568,967 Y123F probably damaging Het
Rassf8 A G 6: 145,815,815 E289G probably benign Het
Rnf17 T C 14: 56,465,819 probably null Het
Rp9 A G 9: 22,448,664 probably benign Het
Rrm2b T C 15: 37,927,390 Q92R probably benign Het
Sema6d C T 2: 124,664,947 P879S probably damaging Het
Slc27a2 T A 2: 126,564,738 M114K probably benign Het
Slc4a5 T A 6: 83,271,029 Y521N probably damaging Het
Slc6a4 A T 11: 77,010,511 N24I probably damaging Het
Spata13 T A 14: 60,747,503 D815E probably benign Het
Spocd1 A G 4: 129,954,945 D656G probably damaging Het
Susd1 T A 4: 59,424,108 N39I probably damaging Het
Vps13d G A 4: 145,168,283 T417I probably benign Het
Wdr31 C T 4: 62,463,400 V65I probably damaging Het
Zfp783 T C 6: 47,948,895 probably benign Het
Other mutations in Gkn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00507:Gkn1 APN 6 87346339 missense probably damaging 0.99
IGL02314:Gkn1 APN 6 87349121 missense probably benign 0.17
R1240:Gkn1 UTSW 6 87349116 missense probably damaging 1.00
R1698:Gkn1 UTSW 6 87347169 missense probably damaging 1.00
R1750:Gkn1 UTSW 6 87349123 missense unknown
R7220:Gkn1 UTSW 6 87349153 splice site probably null
R7352:Gkn1 UTSW 6 87348118 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CAAACTGGATGTGCTGCCAC -3'
(R):5'- CTAACAGCAAGTTTTCAGATCTCTG -3'

Sequencing Primer
(F):5'- CCACGTGGGTTTATTGAGCCTTAAAG -3'
(R):5'- ATCTCTGAAGTGAAAAGAGAAAGC -3'
Posted On2016-11-21