Incidental Mutation 'IGL02563:Keg1'
ID 298751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Keg1
Ensembl Gene ENSMUSG00000024694
Gene Name kidney expressed gene 1
Synonyms 0610008P16Rik, GS4059
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL02563
Quality Score
Status
Chromosome 19
Chromosomal Location 12695786-12719902 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12719157 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 288 (N288I)
Ref Sequence ENSEMBL: ENSMUSP00000025598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025598] [ENSMUST00000138545] [ENSMUST00000154822]
AlphaFold Q9DCY0
Predicted Effect probably damaging
Transcript: ENSMUST00000025598
AA Change: N288I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: N288I

DomainStartEndE-ValueType
Pfam:Gly_acyl_tr_N 1 205 1.2e-89 PFAM
Pfam:Gly_acyl_tr_C 206 294 1.9e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124184
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128987
Predicted Effect probably benign
Transcript: ENSMUST00000138545
SMART Domains Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694

DomainStartEndE-ValueType
Pfam:Gly_acyl_tr_N 1 195 4.2e-96 PFAM
Pfam:Gly_acyl_tr_C 196 228 4.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147335
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152017
Predicted Effect probably benign
Transcript: ENSMUST00000154822
SMART Domains Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694

DomainStartEndE-ValueType
Pfam:Gly_acyl_tr_N 1 156 1.2e-71 PFAM
Pfam:Gly_acyl_tr_C 153 221 3.2e-37 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,380,398 V97E probably damaging Het
9530053A07Rik G A 7: 28,157,892 E2222K probably benign Het
Abhd16a C T 17: 35,101,245 T362M probably damaging Het
Adam23 T G 1: 63,567,977 probably benign Het
Apeh C A 9: 108,093,709 R87L possibly damaging Het
Arid3a T A 10: 79,950,883 M490K probably damaging Het
Atp6v1b1 T A 6: 83,755,451 V251D probably benign Het
Cog8 C T 8: 107,056,423 R78Q possibly damaging Het
Cyld T C 8: 88,735,894 I701T probably damaging Het
Dmgdh A G 13: 93,674,539 probably benign Het
Dnm1 T C 2: 32,315,919 probably null Het
Dopey2 T A 16: 93,777,405 V2D probably damaging Het
Dusp22 A T 13: 30,705,645 S70C possibly damaging Het
Dync2h1 T C 9: 7,035,700 Q3415R possibly damaging Het
Dysf T C 6: 84,186,516 probably benign Het
Fam114a1 G A 5: 65,006,148 probably null Het
Fam20a T A 11: 109,677,794 Q302L possibly damaging Het
Fancm T A 12: 65,092,462 L374H probably damaging Het
Fgf17 G A 14: 70,636,738 Q204* probably null Het
Gap43 T C 16: 42,292,132 T89A probably benign Het
Gm5069 A G 1: 180,327,899 probably benign Het
Gm9913 C T 2: 125,506,334 probably benign Het
Gpr174 T C X: 107,293,248 L222P probably benign Het
Grid2 A T 6: 64,345,873 Q619L possibly damaging Het
Hoxc13 A G 15: 102,921,798 D204G possibly damaging Het
Itgav T C 2: 83,771,236 V317A probably benign Het
Ksr1 C T 11: 79,044,858 V234I possibly damaging Het
Lrp1 T A 10: 127,551,686 D3365V probably damaging Het
Luc7l3 A T 11: 94,300,068 probably null Het
Mta2 T C 19: 8,948,051 I348T probably benign Het
Nphp4 A G 4: 152,556,220 I1015V probably benign Het
Nup214 C T 2: 31,977,860 S113F probably damaging Het
Olfr1303 T C 2: 111,813,817 K303R probably benign Het
Pabpn1l T A 8: 122,620,383 T228S probably damaging Het
Paxx T C 2: 25,459,662 *206W probably null Het
Pcdhb10 A G 18: 37,413,073 T401A probably benign Het
Ppp1r3a A C 6: 14,719,762 D384E probably benign Het
Rif1 T C 2: 52,077,065 V122A probably damaging Het
Scn4b T C 9: 45,146,682 L24P probably damaging Het
Sec22c T C 9: 121,684,650 probably benign Het
Sh3rf2 A G 18: 42,156,142 D676G probably damaging Het
Slc20a1 A G 2: 129,207,684 T289A probably benign Het
Tekt2 T C 4: 126,324,625 D84G possibly damaging Het
Tgfbr2 T A 9: 116,129,998 N116I probably benign Het
Tmem196 A G 12: 119,946,474 M1V probably null Het
Tnn A G 1: 160,114,553 V1125A probably damaging Het
Vmn2r51 A T 7: 10,100,316 M265K probably benign Het
Zfp319 T C 8: 95,323,734 probably benign Het
Zfp65 A T 13: 67,708,065 V365E possibly damaging Het
Zp3 T A 5: 135,987,610 probably null Het
Other mutations in Keg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Keg1 APN 19 12719000 missense probably damaging 1.00
IGL01084:Keg1 APN 19 12714612 missense probably damaging 1.00
IGL03328:Keg1 APN 19 12719097 missense probably damaging 1.00
R0103:Keg1 UTSW 19 12718916 missense possibly damaging 0.79
R0103:Keg1 UTSW 19 12718916 missense possibly damaging 0.79
R0417:Keg1 UTSW 19 12711060 missense probably damaging 1.00
R1300:Keg1 UTSW 19 12719004 missense probably damaging 0.98
R1476:Keg1 UTSW 19 12716023 missense probably benign
R1482:Keg1 UTSW 19 12718821 missense probably damaging 1.00
R1643:Keg1 UTSW 19 12719042 missense probably benign 0.00
R4002:Keg1 UTSW 19 12718943 missense possibly damaging 0.95
R5022:Keg1 UTSW 19 12719157 missense probably damaging 1.00
R5164:Keg1 UTSW 19 12714680 intron probably benign
R5386:Keg1 UTSW 19 12714538 missense probably damaging 1.00
R6289:Keg1 UTSW 19 12714573 missense probably damaging 0.98
R6517:Keg1 UTSW 19 12715910 missense probably benign 0.00
R6656:Keg1 UTSW 19 12709630 nonsense probably null
R7117:Keg1 UTSW 19 12709678 missense probably damaging 1.00
R7676:Keg1 UTSW 19 12716045 missense probably benign 0.00
R7807:Keg1 UTSW 19 12714634 critical splice donor site probably null
Posted On 2015-04-16