Incidental Mutation 'R9650:Cs'
ID 727046
Institutional Source Beutler Lab
Gene Symbol Cs
Ensembl Gene ENSMUSG00000005683
Gene Name citrate synthase
Synonyms Cis, 9030605P22Rik, 2610511A05Rik, ahl4
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9650 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 128173603-128198348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128196856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 417 (M417K)
Ref Sequence ENSEMBL: ENSMUSP00000005826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005826] [ENSMUST00000043211] [ENSMUST00000219815] [ENSMUST00000220027] [ENSMUST00000220227]
AlphaFold Q9CZU6
Predicted Effect probably benign
Transcript: ENSMUST00000005826
AA Change: M417K

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000005826
Gene: ENSMUSG00000005683
AA Change: M417K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Citrate_synt 71 449 3.3e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000043211
SMART Domains Protein: ENSMUSP00000036213
Gene: ENSMUSG00000039914

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 33 47 N/A INTRINSIC
low complexity region 54 69 N/A INTRINSIC
Pfam:Polyketide_cyc 105 234 1.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218507
Predicted Effect probably benign
Transcript: ENSMUST00000219815
Predicted Effect probably benign
Transcript: ENSMUST00000220027
Predicted Effect probably benign
Transcript: ENSMUST00000220227
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a central metabolic pathway enzyme, catalyzing the first step of the tricarboxylic acid cycle in which acetyl coenzyme A and oxaloacetate are converted to citrate and coenzyme A. This enzyme is found in nearly all cells capable of oxidative metabolism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a point mutation exhibit hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,071,446 (GRCm39) N1469Y probably benign Het
Actl10 T A 2: 154,394,682 (GRCm39) N211K probably benign Het
Adam33 C T 2: 130,894,989 (GRCm39) V690M possibly damaging Het
Agap2 G A 10: 126,927,653 (GRCm39) R1178H unknown Het
Ank2 T A 3: 126,735,829 (GRCm39) T3352S unknown Het
BC005537 T A 13: 24,986,122 (GRCm39) D7E unknown Het
Bptf T C 11: 106,935,412 (GRCm39) M142V probably benign Het
Cox15 A G 19: 43,735,318 (GRCm39) Y150H probably benign Het
Cpq A T 15: 33,497,405 (GRCm39) I382F possibly damaging Het
Cps1 T C 1: 67,254,636 (GRCm39) F1275S Het
Cyp2b19 G A 7: 26,466,208 (GRCm39) R337Q possibly damaging Het
Dmgdh A T 13: 93,845,333 (GRCm39) Y442F probably benign Het
Dync2h1 A T 9: 7,174,849 (GRCm39) D131E possibly damaging Het
Epb41l2 A G 10: 25,369,495 (GRCm39) I605V probably benign Het
Evc G A 5: 37,458,162 (GRCm39) P963L probably damaging Het
Evl C A 12: 108,641,698 (GRCm39) T160N probably benign Het
Fam76a T C 4: 132,629,387 (GRCm39) Y255C probably damaging Het
Fras1 G T 5: 96,910,387 (GRCm39) R3272L probably damaging Het
Fry T C 5: 150,369,375 (GRCm39) V2283A probably damaging Het
Fzd6 A G 15: 38,894,941 (GRCm39) Y369C probably damaging Het
Hip1r T C 5: 124,135,357 (GRCm39) probably null Het
Hps5 A G 7: 46,425,354 (GRCm39) S449P probably damaging Het
Ighv1-34 G T 12: 114,814,885 (GRCm39) D92E possibly damaging Het
Iigp1c T G 18: 60,379,470 (GRCm39) V335G probably damaging Het
Ino80 C T 2: 119,277,464 (GRCm39) R337Q probably damaging Het
Itgax T C 7: 127,734,935 (GRCm39) I422T probably benign Het
Itk A T 11: 46,222,778 (GRCm39) Y564N probably damaging Het
Kcnh5 A C 12: 75,023,293 (GRCm39) S592A probably benign Het
Klhl40 T A 9: 121,609,083 (GRCm39) V416E possibly damaging Het
Lhfpl4 T C 6: 113,171,147 (GRCm39) E13G probably benign Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Muc16 A T 9: 18,553,762 (GRCm39) M4177K unknown Het
Ngef T A 1: 87,415,552 (GRCm39) T371S possibly damaging Het
Nutm2 A T 13: 50,623,755 (GRCm39) T151S probably benign Het
Or4c109 A T 2: 88,818,006 (GRCm39) L180* probably null Het
Or51f2 T C 7: 102,526,987 (GRCm39) I220T probably damaging Het
Pate13 A C 9: 35,820,799 (GRCm39) M84L probably benign Het
Pcdhga8 T A 18: 37,860,519 (GRCm39) I525K probably benign Het
Pcx C T 19: 4,657,714 (GRCm39) R394C probably damaging Het
Pnmt A T 11: 98,278,262 (GRCm39) D112V probably damaging Het
Rnf115 C T 3: 96,665,337 (GRCm39) T69I probably damaging Het
Rrp7a A T 15: 83,004,091 (GRCm39) probably null Het
Senp1 A T 15: 97,946,248 (GRCm39) M499K probably damaging Het
Serpina3f G A 12: 104,186,519 (GRCm39) A362T possibly damaging Het
Slc29a3 T A 10: 60,586,302 (GRCm39) I55F possibly damaging Het
Stab2 ACC AC 10: 86,692,561 (GRCm39) probably null Het
Tln1 G A 4: 43,545,912 (GRCm39) T901I probably damaging Het
Tmem102 T C 11: 69,695,869 (GRCm39) K64R probably benign Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tnxb G A 17: 34,930,629 (GRCm39) V2105I probably damaging Het
Traf2 A C 2: 25,410,454 (GRCm39) C391W probably damaging Het
Tubgcp3 A G 8: 12,705,974 (GRCm39) S183P probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Usp2 C A 9: 44,000,476 (GRCm39) N288K probably damaging Het
Utrn T C 10: 12,613,929 (GRCm39) T381A probably benign Het
Vil1 C T 1: 74,464,775 (GRCm39) P474L probably benign Het
Wasf2 T A 4: 132,917,457 (GRCm39) N185K unknown Het
Zfp865 A G 7: 5,037,683 (GRCm39) M45V unknown Het
Other mutations in Cs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Cs APN 10 128,195,912 (GRCm39) missense probably damaging 0.98
IGL00572:Cs APN 10 128,196,833 (GRCm39) unclassified probably benign
IGL02693:Cs APN 10 128,185,678 (GRCm39) splice site probably benign
R1792:Cs UTSW 10 128,195,948 (GRCm39) missense possibly damaging 0.84
R3606:Cs UTSW 10 128,195,892 (GRCm39) missense probably benign 0.35
R4032:Cs UTSW 10 128,196,913 (GRCm39) missense probably damaging 1.00
R4657:Cs UTSW 10 128,189,006 (GRCm39) missense probably benign 0.00
R5654:Cs UTSW 10 128,187,086 (GRCm39) missense possibly damaging 0.80
R7045:Cs UTSW 10 128,188,586 (GRCm39) missense probably benign 0.00
R7896:Cs UTSW 10 128,189,004 (GRCm39) missense probably damaging 1.00
R7913:Cs UTSW 10 128,186,310 (GRCm39) missense possibly damaging 0.88
R9028:Cs UTSW 10 128,188,952 (GRCm39) missense
R9629:Cs UTSW 10 128,196,885 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGAGCCCTTGACTGACCTG -3'
(R):5'- CTTAAGTCTTAAAGGCCCCTGAAAC -3'

Sequencing Primer
(F):5'- GCCCTTGACTGACCTGTGACTAC -3'
(R):5'- AAGCTTCCTCGTTTTCTTATAGTCAG -3'
Posted On 2022-10-06