Incidental Mutation 'IGL00435:Cs'
ID 4643
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00435
Quality Score
Status
Chromosome 10
Chromosomal Location 128173603-128198348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128195912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 374 (F374L)
Ref Sequence ENSEMBL: ENSMUSP00000005826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005826] [ENSMUST00000043211] [ENSMUST00000220027] [ENSMUST00000220227]
AlphaFold Q9CZU6
Predicted Effect probably damaging
Transcript: ENSMUST00000005826
AA Change: F374L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005826
Gene: ENSMUSG00000005683
AA Change: F374L

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,152,796 (GRCm39) D657E probably damaging Het
Cd200l1 A T 16: 45,264,483 (GRCm39) L25Q probably damaging Het
Cd68 T C 11: 69,556,676 (GRCm39) T44A probably damaging Het
Cecr2 C T 6: 120,733,678 (GRCm39) T555M probably damaging Het
Cep170b A G 12: 112,701,628 (GRCm39) Q169R probably damaging Het
Dpy19l1 T C 9: 24,393,226 (GRCm39) E181G probably damaging Het
Efcab12 T C 6: 115,800,625 (GRCm39) T133A probably benign Het
Esr2 G A 12: 76,180,653 (GRCm39) R423W probably damaging Het
Eya4 T C 10: 23,034,995 (GRCm39) Y120C probably benign Het
Fbxw8 A G 5: 118,206,202 (GRCm39) M582T probably benign Het
Fcgbpl1 A T 7: 27,863,953 (GRCm39) D2575V probably damaging Het
Ghsr A G 3: 27,426,532 (GRCm39) E196G possibly damaging Het
Gm10024 G A 10: 77,547,295 (GRCm39) probably benign Het
Gpr65 A G 12: 98,241,815 (GRCm39) E156G probably damaging Het
Gtf3c3 T C 1: 54,466,694 (GRCm39) Y249C possibly damaging Het
H2-T23 G A 17: 36,342,673 (GRCm39) A155V probably damaging Het
Hadha A G 5: 30,327,171 (GRCm39) S556P probably benign Het
Hdac7 T A 15: 97,707,376 (GRCm39) K187N probably damaging Het
Inpp5j T C 11: 3,452,255 (GRCm39) I332V probably benign Het
Kank1 A G 19: 25,407,600 (GRCm39) D1198G probably benign Het
Kdr A G 5: 76,129,410 (GRCm39) L159P probably damaging Het
Me2 T C 18: 73,903,713 (GRCm39) E585G probably benign Het
Nfu1 A T 6: 86,992,577 (GRCm39) T64S probably damaging Het
Nsd3 A G 8: 26,166,728 (GRCm39) D632G probably benign Het
Pcna T C 2: 132,093,852 (GRCm39) D97G probably benign Het
Pgm2 A G 5: 64,265,612 (GRCm39) probably benign Het
Phactr1 C A 13: 43,110,122 (GRCm39) R2S probably damaging Het
Psmd11 T A 11: 80,361,210 (GRCm39) I347N possibly damaging Het
Rad21l T C 2: 151,495,436 (GRCm39) T416A probably benign Het
Ruvbl2 A T 7: 45,074,596 (GRCm39) S181T probably benign Het
Rxrb A G 17: 34,253,049 (GRCm39) T109A probably damaging Het
Ryr3 T A 2: 112,490,494 (GRCm39) Y3785F probably damaging Het
Sec16a T C 2: 26,320,113 (GRCm39) T1442A probably benign Het
Slc6a14 T A X: 21,600,363 (GRCm39) probably benign Het
Slco2b1 G A 7: 99,309,259 (GRCm39) Q691* probably null Het
Tent5c A G 3: 100,380,672 (GRCm39) V28A probably damaging Het
Them5 A G 3: 94,253,496 (GRCm39) T169A possibly damaging Het
Trav13-2 T C 14: 53,872,688 (GRCm39) F55L possibly damaging Het
Tst A T 15: 78,289,661 (GRCm39) S125T probably damaging Het
Ttn T C 2: 76,630,868 (GRCm39) T14179A probably benign Het
Vps37b A G 5: 124,148,850 (GRCm39) Y62H probably damaging Het
Other mutations in Cs
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9650:Cs UTSW 10 128,196,856 (GRCm39) missense probably benign 0.11
Posted On 2012-04-20