Incidental Mutation 'IGL03111:Clybl'
ID419177
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? Possibly essential (E-score: 0.590) question?
Stock #IGL03111
Quality Score
Status
Chromosome14
Chromosomal Location122181704-122402234 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 122401983 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 320 (P320S)
Ref Sequence ENSEMBL: ENSMUSP00000026625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026625]
Predicted Effect probably damaging
Transcript: ENSMUST00000026625
AA Change: P320S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026625
Gene: ENSMUSG00000025545
AA Change: P320S

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,726,040 D523G probably benign Het
Alkbh1 A C 12: 87,434,137 H176Q probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arid4a G A 12: 71,039,966 A193T probably damaging Het
Cdkal1 A G 13: 29,354,701 S492P possibly damaging Het
Cep170b C T 12: 112,735,179 T164I probably damaging Het
Chst1 T C 2: 92,613,347 Y55H possibly damaging Het
Cpne9 T C 6: 113,300,610 I430T possibly damaging Het
Cyc1 T G 15: 76,344,872 S113A probably benign Het
Cyp4b1 C T 4: 115,635,869 probably benign Het
Dpysl3 T C 18: 43,329,845 D489G probably damaging Het
Epha3 T C 16: 63,653,446 D15G probably damaging Het
Ephb4 C A 5: 137,372,505 F933L probably benign Het
Fan1 A T 7: 64,350,068 D856E possibly damaging Het
Gabra6 T A 11: 42,317,017 D208V probably damaging Het
Kif3b T A 2: 153,330,068 S719R probably benign Het
Ldhd A C 8: 111,627,165 C439G probably damaging Het
Lipo3 C T 19: 33,582,237 V78I probably damaging Het
Mterf2 A T 10: 85,119,922 Y279* probably null Het
Myo9a G T 9: 59,827,243 A703S probably benign Het
Ndst3 T A 3: 123,672,096 T76S possibly damaging Het
Nlrp4f A T 13: 65,183,002 L859Q probably damaging Het
Nlrp4g T A 9: 124,353,978 noncoding transcript Het
Olfr1496 T A 19: 13,780,979 Y122* probably null Het
Olfr577 G A 7: 102,973,531 R154C probably damaging Het
Olfr811 G A 10: 129,802,078 T149I probably benign Het
Osgin1 A T 8: 119,443,049 K113M probably damaging Het
Plcb4 T A 2: 135,976,282 Y823N probably damaging Het
Prg4 T C 1: 150,451,902 I856V probably benign Het
Pxdn T A 12: 29,982,756 S180T probably damaging Het
Skint9 T A 4: 112,391,724 N169I probably benign Het
Slc24a1 T C 9: 64,926,326 T996A probably damaging Het
Tbc1d20 T C 2: 152,308,078 Y91H probably damaging Het
Tbc1d9b A G 11: 50,158,542 Y772C probably damaging Het
Thbd T A 2: 148,406,472 E492V probably benign Het
Thra A G 11: 98,761,029 probably benign Het
Tmem131 A G 1: 36,828,144 S403P probably damaging Het
Zfp455 T C 13: 67,207,999 S444P probably benign Het
Zfp946 A G 17: 22,454,556 H97R possibly 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
IGL03328:Clybl APN 14 122401994 missense probably damaging 0.99
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
Posted On2016-08-02