Incidental Mutation 'R3606:Cs'
ID 269091
Institutional Source Beutler Lab
Gene Symbol Cs
Ensembl Gene ENSMUSG00000005683
Gene Name citrate synthase
Synonyms Cis, 9030605P22Rik, 2610511A05Rik, ahl4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3606 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 128173603-128198348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128195892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 367 (H367L)
Ref Sequence ENSEMBL: ENSMUSP00000005826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005826] [ENSMUST00000043211] [ENSMUST00000220027] [ENSMUST00000220227]
AlphaFold Q9CZU6
Predicted Effect probably benign
Transcript: ENSMUST00000005826
AA Change: H367L

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000005826
Gene: ENSMUSG00000005683
AA Change: H367L

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 noncoding transcript
Transcript: ENSMUST00000219934
Predicted Effect probably benign
Transcript: ENSMUST00000220027
Predicted Effect probably benign
Transcript: ENSMUST00000220227
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 93.8%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid4b T C 13: 14,294,826 (GRCm39) V36A probably damaging Het
Cd101 A T 3: 100,927,913 (GRCm39) I56N probably damaging Het
Ddb1 A G 19: 10,605,857 (GRCm39) E1095G probably damaging Het
Fgfrl1 C A 5: 108,853,289 (GRCm39) T213K probably damaging Het
Ift70a1 T C 2: 75,811,621 (GRCm39) D154G probably benign Het
Kprp C A 3: 92,731,588 (GRCm39) Q487H unknown Het
Myom2 T C 8: 15,119,775 (GRCm39) V177A probably damaging Het
Nelfcd A G 2: 174,268,337 (GRCm39) Y525C probably benign Het
Or2t49 C T 11: 58,392,957 (GRCm39) V148M possibly damaging Het
Or5i1 C A 2: 87,613,551 (GRCm39) F222L probably benign Het
Pcdhgc5 A G 18: 37,953,560 (GRCm39) D278G probably benign Het
Peg3 T C 7: 6,711,508 (GRCm39) E1238G probably damaging Het
Plekha7 T C 7: 115,763,477 (GRCm39) D313G possibly damaging Het
Ppp1r9a A G 6: 5,113,674 (GRCm39) N726S possibly damaging Het
Psmd3 C T 11: 98,581,780 (GRCm39) R302W probably damaging Het
Ptbp2 A G 3: 119,541,281 (GRCm39) L223P probably damaging Het
Ranbp10 A G 8: 106,502,667 (GRCm39) S300P probably benign Het
Rundc3b A T 5: 8,562,386 (GRCm39) D327E probably damaging Het
Tsr1 T C 11: 74,796,059 (GRCm39) S562P probably benign Het
Ube3c A G 5: 29,803,936 (GRCm39) T180A possibly damaging 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
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
R9650:Cs UTSW 10 128,196,856 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- ACTTTGATGTACAGTCCTGCCTG -3'
(R):5'- CTGATTAAGGAGCTGATTCTGTGC -3'

Sequencing Primer
(F):5'- ATGTACAGTCCTGCCTGAGCAC -3'
(R):5'- TGTGCTTGGCAGAGAACAATG -3'
Posted On 2015-02-19