Incidental Mutation 'R0103:Keg1'
ID 17385
Institutional Source Beutler Lab
Gene Symbol Keg1
Ensembl Gene ENSMUSG00000024694
Gene Name kidney expressed gene 1
Synonyms 0610008P16Rik, GS4059
MMRRC Submission 038389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R0103 (G1)
Quality Score
Status Validated
Chromosome 19
Chromosomal Location 12673154-12697266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12696280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 155 (I155F)
Ref Sequence ENSEMBL: ENSMUSP00000119879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025598] [ENSMUST00000138545] [ENSMUST00000154822]
AlphaFold Q9DCY0
Predicted Effect possibly damaging
Transcript: ENSMUST00000025598
AA Change: I208F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: I208F

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 possibly damaging
Transcript: ENSMUST00000138545
AA Change: I198F

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000116555
Gene: ENSMUSG00000024694
AA Change: I198F

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 possibly damaging
Transcript: ENSMUST00000154822
AA Change: I155F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: I155F

DomainStartEndE-ValueType
Pfam:Gly_acyl_tr_N 1 156 1.2e-71 PFAM
Pfam:Gly_acyl_tr_C 153 221 3.2e-37 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 89.4%
  • 3x: 86.4%
  • 10x: 77.8%
  • 20x: 63.0%
Validation Efficiency 91% (89/98)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,223,951 (GRCm39) R443S probably damaging Het
Adgrl3 A G 5: 81,940,194 (GRCm39) probably benign Het
Anapc1 T C 2: 128,522,372 (GRCm39) probably benign Het
Aqr T A 2: 113,979,497 (GRCm39) I313F probably damaging Het
Arfgap3 A T 15: 83,206,922 (GRCm39) probably benign Het
Asah2 G T 19: 31,996,377 (GRCm39) H374N probably benign Het
Catspere2 A G 1: 177,943,771 (GRCm39) N703D unknown Het
Ccdc106 C A 7: 5,060,544 (GRCm39) Q35K probably benign Het
Ccm2l G T 2: 152,909,839 (GRCm39) E64* probably null Het
Cep85l A T 10: 53,154,270 (GRCm39) D776E possibly damaging Het
Cfap52 T A 11: 67,815,951 (GRCm39) I611F possibly damaging Het
Cldn22 C T 8: 48,277,589 (GRCm39) T9M probably benign Het
Coa7 T C 4: 108,195,338 (GRCm39) L89P possibly damaging Het
Cox7a2l A T 17: 83,821,701 (GRCm39) Y2N probably damaging Het
Cyp27a1 A C 1: 74,775,074 (GRCm39) E301A probably benign Het
Dennd4c A G 4: 86,730,683 (GRCm39) Y860C probably benign Het
Dhx58 T C 11: 100,586,096 (GRCm39) T642A probably damaging Het
Dlg4 A G 11: 69,922,019 (GRCm39) Y87C probably damaging Het
Dnah6 C T 6: 73,069,155 (GRCm39) E2511K probably damaging Het
Entpd5 C A 12: 84,443,717 (GRCm39) E9* probably null Het
Fbln2 A C 6: 91,248,532 (GRCm39) I1066L probably benign Het
Fhl2 C T 1: 43,192,381 (GRCm39) R4H probably benign Het
Frmpd1 T A 4: 45,229,884 (GRCm39) I17K probably damaging Het
Gbp7 T A 3: 142,252,299 (GRCm39) N627K probably benign Het
Gnptab A G 10: 88,265,381 (GRCm39) Y331C probably damaging Het
Hibadh T A 6: 52,534,862 (GRCm39) M173L probably benign Het
Itga1 T C 13: 115,152,790 (GRCm39) I211V probably benign Het
Ltb A G 17: 35,414,016 (GRCm39) probably benign Het
Manea A T 4: 26,329,080 (GRCm39) probably null Het
Ms4a4a T A 19: 11,370,048 (GRCm39) M202K possibly damaging Het
Myo3a T G 2: 22,436,360 (GRCm39) probably benign Het
Myo9b C T 8: 71,776,493 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ncor1 G T 11: 62,233,871 (GRCm39) Q444K possibly damaging Het
Nek7 A T 1: 138,471,980 (GRCm39) C53* probably null Het
Obscn G T 11: 58,953,522 (GRCm39) Y4044* probably null Het
Pcsk6 T C 7: 65,578,845 (GRCm39) probably benign Het
Phax T A 18: 56,695,785 (GRCm39) V7D probably benign Het
Phxr4 T C 9: 13,343,087 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,593,583 (GRCm39) D1510V probably benign Het
Pkhd1l1 T C 15: 44,460,537 (GRCm39) C4249R probably benign Het
Prpf39 T C 12: 65,102,057 (GRCm39) V378A possibly damaging Het
Psd2 A G 18: 36,137,770 (GRCm39) N455S probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rad9b A T 5: 122,469,590 (GRCm39) V348E probably damaging Het
Rcor1 T C 12: 111,076,212 (GRCm39) probably benign Het
Rhoc A T 3: 104,699,307 (GRCm39) E32V possibly damaging Het
Rnf40 T G 7: 127,199,743 (GRCm39) V925G probably damaging Het
Slc25a32 A T 15: 38,963,292 (GRCm39) Y176* probably null Het
Slc7a1 T A 5: 148,289,236 (GRCm39) K4* probably null Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Taar4 A T 10: 23,837,304 (GRCm39) N305Y probably damaging Het
Tcaf1 G T 6: 42,663,324 (GRCm39) D185E probably benign Het
Tmem138 T C 19: 10,552,316 (GRCm39) N62S possibly damaging Het
Tnfrsf25 C T 4: 152,201,405 (GRCm39) P65S possibly damaging Het
Trp53bp1 A T 2: 121,067,240 (GRCm39) S495R possibly damaging Het
Trpv3 T C 11: 73,184,805 (GRCm39) F597S probably damaging Het
Ugt2a3 A G 5: 87,484,577 (GRCm39) V149A possibly damaging Het
Ush2a T G 1: 188,051,267 (GRCm39) I251R possibly damaging Het
Vamp4 T C 1: 162,417,108 (GRCm39) C114R possibly damaging Het
Zc3h13 T A 14: 75,567,908 (GRCm39) V1067E probably damaging Het
Zcwpw1 G A 5: 137,808,375 (GRCm39) W274* probably null Het
Other mutations in Keg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Keg1 APN 19 12,696,364 (GRCm39) missense probably damaging 1.00
IGL01084:Keg1 APN 19 12,691,976 (GRCm39) missense probably damaging 1.00
IGL02563:Keg1 APN 19 12,696,521 (GRCm39) missense probably damaging 1.00
IGL03328:Keg1 APN 19 12,696,461 (GRCm39) missense probably damaging 1.00
R0103:Keg1 UTSW 19 12,696,280 (GRCm39) missense possibly damaging 0.79
R0417:Keg1 UTSW 19 12,688,424 (GRCm39) missense probably damaging 1.00
R1300:Keg1 UTSW 19 12,696,368 (GRCm39) missense probably damaging 0.98
R1476:Keg1 UTSW 19 12,693,387 (GRCm39) missense probably benign
R1482:Keg1 UTSW 19 12,696,185 (GRCm39) missense probably damaging 1.00
R1643:Keg1 UTSW 19 12,696,406 (GRCm39) missense probably benign 0.00
R4002:Keg1 UTSW 19 12,696,307 (GRCm39) missense possibly damaging 0.95
R5022:Keg1 UTSW 19 12,696,521 (GRCm39) missense probably damaging 1.00
R5164:Keg1 UTSW 19 12,692,044 (GRCm39) intron probably benign
R5386:Keg1 UTSW 19 12,691,902 (GRCm39) missense probably damaging 1.00
R6289:Keg1 UTSW 19 12,691,937 (GRCm39) missense probably damaging 0.98
R6517:Keg1 UTSW 19 12,693,274 (GRCm39) missense probably benign 0.00
R6656:Keg1 UTSW 19 12,686,994 (GRCm39) nonsense probably null
R7117:Keg1 UTSW 19 12,687,042 (GRCm39) missense probably damaging 1.00
R7676:Keg1 UTSW 19 12,693,409 (GRCm39) missense probably benign 0.00
R7807:Keg1 UTSW 19 12,691,998 (GRCm39) critical splice donor site probably null
Posted On 2013-01-31