Incidental Mutation 'IGL03328:Clybl'
ID416715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clybl
Ensembl Gene ENSMUSG00000025545
Gene Namecitrate lyase beta like
SynonymsClb, 2310014M14Rik, 0610033J05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03328
Quality Score
Status
Chromosome14
Chromosomal Location122181704-122402234 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 122401994 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 323 (K323N)
Ref Sequence ENSEMBL: ENSMUSP00000026625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026625]
Predicted Effect probably damaging
Transcript: ENSMUST00000026625
AA Change: K323N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026625
Gene: ENSMUSG00000025545
AA Change: K323N

DomainStartEndE-ValueType
Pfam:HpcH_HpaI 44 272 1.4e-51 PFAM
Pfam:C-C_Bond_Lyase 218 334 2.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228409
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
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
Keg1 A G 19: 12,719,097 N215S 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 Clybl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Clybl APN 14 122379198 splice site probably benign
IGL01380:Clybl APN 14 122379349 missense probably benign 0.04
IGL01589:Clybl APN 14 122371422 missense probably damaging 1.00
IGL02043:Clybl APN 14 122379252 missense probably damaging 1.00
IGL03111:Clybl APN 14 122401983 missense probably damaging 1.00
R2104:Clybl UTSW 14 122311306 missense probably damaging 1.00
R4869:Clybl UTSW 14 122384206 missense probably damaging 1.00
R5067:Clybl UTSW 14 122379289 missense possibly damaging 0.77
R5138:Clybl UTSW 14 122371304 missense possibly damaging 0.46
R5255:Clybl UTSW 14 122384279 missense probably benign 0.02
R5620:Clybl UTSW 14 122311343 missense probably damaging 0.97
R6982:Clybl UTSW 14 122401947 missense probably damaging 1.00
R7162:Clybl UTSW 14 122371320 nonsense probably null
Posted On2016-08-02