Incidental Mutation 'R5620:Clybl'
ID 439810
Institutional Source Beutler Lab
Gene Symbol Clybl
Ensembl Gene ENSMUSG00000025545
Gene Name citrate lyase beta like
Synonyms Clb, 0610033J05Rik, 2310014M14Rik
MMRRC Submission 043160-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5620 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 122419116-122639646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122548755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 52 (N52K)
Ref Sequence ENSEMBL: ENSMUSP00000026625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026625]
AlphaFold Q8R4N0
Predicted Effect probably damaging
Transcript: ENSMUST00000026625
AA Change: N52K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026625
Gene: ENSMUSG00000025545
AA Change: N52K

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A C 15: 102,246,826 (GRCm39) S511A probably benign Het
Abca3 C T 17: 24,615,444 (GRCm39) T845I probably benign Het
Acaa2 G A 18: 74,938,945 (GRCm39) A377T possibly damaging Het
Adcy4 C A 14: 56,009,824 (GRCm39) E743* probably null Het
Ahnak T A 19: 8,990,458 (GRCm39) L3914* probably null Het
Akap1 G T 11: 88,736,343 (GRCm39) N106K possibly damaging Het
Arid2 C T 15: 96,270,387 (GRCm39) T1500I probably benign Het
Atp6v0a2 T A 5: 124,783,909 (GRCm39) Y252* probably null Het
C4bp A G 1: 130,581,090 (GRCm39) S140P probably damaging Het
Cald1 A G 6: 34,739,047 (GRCm39) I384M probably damaging Het
Cdk12 A G 11: 98,101,809 (GRCm39) I556V unknown Het
Chmp2a T C 7: 12,766,237 (GRCm39) S174G probably benign Het
Cyp4a29 C A 4: 115,108,088 (GRCm39) S303R probably benign Het
Dab2 T A 15: 6,447,796 (GRCm39) D59E probably damaging Het
Dag1 C A 9: 108,086,214 (GRCm39) R309L probably damaging Het
Dync1i2 T A 2: 71,088,483 (GRCm39) M505K probably benign Het
Eif2b1 A T 5: 124,717,075 (GRCm39) M1K probably null Het
Epc1 A G 18: 6,448,917 (GRCm39) S577P probably benign Het
Eps8l1 T A 7: 4,463,945 (GRCm39) I23N possibly damaging Het
Etl4 A G 2: 20,535,037 (GRCm39) E164G probably damaging Het
Firrm C A 1: 163,789,613 (GRCm39) G641* probably null Het
Gadl1 A T 9: 115,766,230 (GRCm39) M1L probably benign Het
Gda T C 19: 21,374,908 (GRCm39) D336G probably damaging Het
Grm2 A T 9: 106,527,645 (GRCm39) V413D probably damaging Het
Hnrnpll G T 17: 80,346,051 (GRCm39) N403K probably damaging Het
Ifit1 T A 19: 34,625,238 (GRCm39) F125I probably damaging Het
Igkv5-43 C T 6: 69,800,892 (GRCm39) V2I probably benign Het
Kat5 A C 19: 5,659,507 (GRCm39) Y44* probably null Het
Klc2 A G 19: 5,162,884 (GRCm39) V205A probably damaging Het
Klrb1c T A 6: 128,761,706 (GRCm39) T133S possibly damaging Het
Krt20 A G 11: 99,326,283 (GRCm39) L157P probably damaging Het
Krt26 G T 11: 99,228,597 (GRCm39) T45N possibly damaging Het
Lama2 C T 10: 26,866,876 (GRCm39) D2873N probably damaging Het
Lig1 T A 7: 13,020,532 (GRCm39) C114S possibly damaging Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Maml2 A T 9: 13,608,616 (GRCm39) R21S probably damaging Het
Mrpl35 C T 6: 71,794,720 (GRCm39) V83I probably benign Het
Myo3b A G 2: 70,069,254 (GRCm39) R498G probably benign Het
Nup153 C A 13: 46,837,482 (GRCm39) E1247* probably null Het
Or2t48 A T 11: 58,420,557 (GRCm39) M85K probably damaging Het
Pcdhac2 A G 18: 37,277,257 (GRCm39) N79S probably benign Het
Pcgf6 C T 19: 47,036,406 (GRCm39) G221D probably damaging Het
Phf11b C T 14: 59,558,953 (GRCm39) D260N probably benign Het
Pla2g5 T C 4: 138,531,921 (GRCm39) M28V possibly damaging Het
Prpf8 T C 11: 75,395,927 (GRCm39) S1934P possibly damaging Het
Prr5 A G 15: 84,640,570 (GRCm39) S140G probably benign Het
Prrc2c T C 1: 162,501,098 (GRCm39) D1235G probably damaging Het
Rasgrp2 T C 19: 6,455,031 (GRCm39) S254P probably damaging Het
Rassf8 C T 6: 145,765,907 (GRCm39) probably benign Het
Rgs20 T A 1: 4,982,666 (GRCm39) E167D probably damaging Het
Rmnd1 G T 10: 4,372,159 (GRCm39) A180E probably damaging Het
Rnf103 A G 6: 71,486,992 (GRCm39) D541G probably benign Het
Rpl9 G T 5: 65,546,468 (GRCm39) Q140K probably benign Het
Sfmbt1 T G 14: 30,506,148 (GRCm39) probably null Het
Shank1 C A 7: 43,962,160 (GRCm39) D10E unknown Het
Srrm4 G T 5: 116,587,672 (GRCm39) probably benign Het
Sucla2 T A 14: 73,832,836 (GRCm39) V447E probably damaging Het
Tbc1d1 A G 5: 64,331,055 (GRCm39) D78G probably benign Het
Tcp1 T A 17: 13,138,224 (GRCm39) probably null Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Thsd7b G A 1: 130,090,673 (GRCm39) probably null Het
Tmem63a A G 1: 180,797,811 (GRCm39) M621V probably benign Het
Tnxb A T 17: 34,936,504 (GRCm39) K2756* probably null Het
Trpm8 G A 1: 88,287,373 (GRCm39) probably null Het
Txndc16 C A 14: 45,373,335 (GRCm39) V764F possibly damaging Het
Ush2a A T 1: 188,492,020 (GRCm39) D3103V possibly damaging Het
Usp22 A T 11: 61,049,206 (GRCm39) I381N probably damaging Het
Zfp462 T A 4: 55,013,464 (GRCm39) M1810K probably benign Het
Zfp64 T A 2: 168,741,888 (GRCm39) M347L possibly damaging Het
Zfp69 T C 4: 120,787,719 (GRCm39) D532G probably damaging Het
Other mutations in Clybl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Clybl APN 14 122,616,610 (GRCm39) splice site probably benign
IGL01380:Clybl APN 14 122,616,761 (GRCm39) missense probably benign 0.04
IGL01589:Clybl APN 14 122,608,834 (GRCm39) missense probably damaging 1.00
IGL02043:Clybl APN 14 122,616,664 (GRCm39) missense probably damaging 1.00
IGL03111:Clybl APN 14 122,639,395 (GRCm39) missense probably damaging 1.00
IGL03328:Clybl APN 14 122,639,406 (GRCm39) missense probably damaging 0.99
R2104:Clybl UTSW 14 122,548,718 (GRCm39) missense probably damaging 1.00
R4869:Clybl UTSW 14 122,621,618 (GRCm39) missense probably damaging 1.00
R5067:Clybl UTSW 14 122,616,701 (GRCm39) missense possibly damaging 0.77
R5138:Clybl UTSW 14 122,608,716 (GRCm39) missense possibly damaging 0.46
R5255:Clybl UTSW 14 122,621,691 (GRCm39) missense probably benign 0.02
R6982:Clybl UTSW 14 122,639,359 (GRCm39) missense probably damaging 1.00
R7162:Clybl UTSW 14 122,608,732 (GRCm39) nonsense probably null
R8055:Clybl UTSW 14 122,615,273 (GRCm39) missense probably damaging 1.00
R8837:Clybl UTSW 14 122,419,194 (GRCm39) critical splice donor site probably null
R9071:Clybl UTSW 14 122,608,697 (GRCm39) missense probably benign 0.03
R9183:Clybl UTSW 14 122,639,387 (GRCm39) missense probably damaging 1.00
R9209:Clybl UTSW 14 122,621,670 (GRCm39) missense probably benign 0.20
R9318:Clybl UTSW 14 122,608,815 (GRCm39) missense probably damaging 1.00
R9596:Clybl UTSW 14 122,548,768 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACATGTGGACCTTTCCCACC -3'
(R):5'- CTCCAAACTGTGTTGAACAAGG -3'

Sequencing Primer
(F):5'- TGGACCTTTCCCACCACCAAATAC -3'
(R):5'- ACTGTGTTGAACAAGGCTAGCTC -3'
Posted On 2016-11-08