Incidental Mutation 'IGL03328:Keg1'
ID 416739
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 # IGL03328
Quality Score
Status
Chromosome 19
Chromosomal Location 12695786-12719902 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12719097 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 215 (N215S)
Ref Sequence ENSEMBL: ENSMUSP00000119879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025598] [ENSMUST00000138545] [ENSMUST00000154822]
AlphaFold Q9DCY0
Predicted Effect probably damaging
Transcript: ENSMUST00000025598
AA Change: N268S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025598
Gene: ENSMUSG00000024694
AA Change: N268S

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 damaging
Transcript: ENSMUST00000154822
AA Change: N215S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119879
Gene: ENSMUSG00000024694
AA Change: N215S

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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A T 2: 23,212,805 Y185F possibly damaging Het
Acaca A T 11: 84,320,529 M1556L probably benign Het
Aicda T G 6: 122,562,437 D187E probably benign Het
Arfgap3 A C 15: 83,343,081 F43L probably damaging Het
AW551984 T C 9: 39,597,116 E368G probably damaging Het
Bbs4 T C 9: 59,344,118 E33G probably damaging Het
Bcas1 T A 2: 170,366,396 K437* probably null Het
Brwd1 A T 16: 96,002,725 W2082R probably damaging Het
Card6 A T 15: 5,105,445 probably benign Het
Cd200r4 A G 16: 44,833,519 I226M possibly damaging Het
Cep57l1 T C 10: 41,743,152 E73G probably damaging Het
Chaf1a T G 17: 56,063,374 F613C probably damaging Het
Clybl G T 14: 122,401,994 K323N probably damaging Het
Coa7 A G 4: 108,338,282 D136G probably damaging Het
Col5a2 C A 1: 45,376,146 V1478L possibly damaging Het
Ctnnd2 T C 15: 30,921,847 probably benign Het
Cyp4f17 T G 17: 32,520,626 M174R probably damaging Het
Dnah10 A T 5: 124,754,290 D794V probably benign Het
Eapp A G 12: 54,692,093 S87P probably benign Het
Efnb3 A G 11: 69,557,205 I137T probably damaging Het
Eif4e T A 3: 138,553,727 probably benign Het
Fam83b T A 9: 76,493,042 I260L probably benign Het
Fras1 A G 5: 96,781,760 T4008A probably damaging Het
Fut8 A T 12: 77,365,229 R118W probably damaging Het
Glt1d1 A C 5: 127,657,119 D119A probably benign Het
Gm3727 T A 14: 7,261,685 *206C probably null Het
Gmip G A 8: 69,811,611 V174M possibly damaging Het
Gtf2ird1 A G 5: 134,389,129 probably null Het
Haao C T 17: 83,846,649 C23Y probably damaging Het
Hip1 A T 5: 135,424,874 V400E probably damaging Het
Lss T G 10: 76,540,951 I334S probably damaging Het
Lyn A C 4: 3,745,327 E77D probably benign Het
Myo3a A G 2: 22,578,198 E1426G probably benign Het
Ncapg2 A G 12: 116,440,057 E863G possibly damaging Het
Ncl T C 1: 86,352,597 Y496C probably damaging Het
Nefm A T 14: 68,121,290 S432T probably benign Het
Nipsnap1 A G 11: 4,884,096 Y95C possibly damaging Het
Npc1l1 C A 11: 6,218,643 E913* probably null Het
Nup205 T C 6: 35,232,414 L1552P probably damaging Het
Olfr1217 G T 2: 89,023,855 Y49* probably null Het
Olfr1356 C T 10: 78,847,367 E183K probably benign Het
Olfr325 A G 11: 58,581,713 N290D probably damaging Het
Olfr652 T A 7: 104,564,470 V83D probably damaging Het
Osm A C 11: 4,238,426 I18L unknown Het
Otoa T A 7: 121,110,994 S254R probably damaging Het
Parp1 T C 1: 180,599,590 probably benign Het
Pcdh17 A G 14: 84,533,111 I1010V probably benign Het
Peli2 A T 14: 48,252,575 probably null Het
Pkd1l3 T G 8: 109,662,106 probably benign Het
Pkhd1 A G 1: 20,081,300 probably benign Het
Polg2 A C 11: 106,768,337 V450G probably benign Het
Ptpn13 A T 5: 103,516,348 T401S probably benign Het
Rgs22 C T 15: 36,043,204 probably null Het
Rttn T G 18: 89,043,028 S1107A probably benign Het
Scn5a G T 9: 119,537,636 N328K probably benign Het
Sned1 G A 1: 93,289,367 A1325T probably benign Het
St8sia4 T A 1: 95,660,870 E80V probably benign Het
Stard7 T C 2: 127,292,256 probably benign Het
Suco G T 1: 161,820,421 P1099T probably damaging Het
Syn2 G T 6: 115,274,260 C459F probably damaging Het
Tas2r117 A C 6: 132,803,078 I60L probably benign Het
Tcrg-C4 A G 13: 19,352,246 Y158C unknown Het
Tomm70a T C 16: 57,144,787 C445R probably damaging Het
Tpsab1 T A 17: 25,345,128 D87V probably benign Het
Trpm6 A T 19: 18,838,082 E1177D possibly damaging Het
Vmn2r71 A T 7: 85,624,291 D771V probably damaging Het
Vmn2r93 A T 17: 18,304,958 T293S probably damaging 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
IGL02563:Keg1 APN 19 12719157 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 2016-08-02