Incidental Mutation 'IGL02693:Cs'
ID 303843
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 # IGL02693
Quality Score
Status
Chromosome 10
Chromosomal Location 128173603-128198348 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 128185678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000005826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005826]
AlphaFold Q9CZU6
Predicted Effect probably benign
Transcript: ENSMUST00000005826
SMART Domains Protein: ENSMUSP00000005826
Gene: ENSMUSG00000005683

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:Citrate_synt 71 449 3.3e-120 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158688
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A G 1: 11,666,506 (GRCm39) D271G probably damaging Het
Agl A T 3: 116,540,077 (GRCm39) V1478E possibly damaging Het
Ckap5 C T 2: 91,400,556 (GRCm39) P636L probably damaging Het
Cnot1 A G 8: 96,500,113 (GRCm39) V127A probably damaging Het
Fbln1 G A 15: 85,113,775 (GRCm39) E170K probably benign Het
Gm5866 A T 5: 52,740,558 (GRCm39) noncoding transcript Het
Lpin3 T C 2: 160,746,975 (GRCm39) V794A probably damaging Het
Ly86 T G 13: 37,559,005 (GRCm39) I68S probably damaging Het
Mrps34 A G 17: 25,114,172 (GRCm39) I11V probably benign Het
Nsmce4a A G 7: 130,144,538 (GRCm39) S122P probably damaging Het
Olfm1 A G 2: 28,102,662 (GRCm39) E112G probably damaging Het
Or5w20 T G 2: 87,726,877 (GRCm39) C111W probably damaging Het
Parp9 A G 16: 35,777,340 (GRCm39) E428G probably benign Het
Phkb T G 8: 86,668,863 (GRCm39) F297V probably damaging Het
Pianp T G 6: 124,978,598 (GRCm39) F268V possibly damaging Het
Polr1a T C 6: 71,940,830 (GRCm39) probably benign Het
Prune2 G A 19: 17,101,855 (GRCm39) G2453E probably benign Het
Ptpn4 T C 1: 119,643,699 (GRCm39) N350D probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rfc4 A G 16: 22,932,960 (GRCm39) S326P probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc35f1 A T 10: 52,809,224 (GRCm39) L70F probably damaging Het
Slc5a7 T C 17: 54,583,947 (GRCm39) T448A probably benign Het
Spata31h1 T C 10: 82,121,092 (GRCm39) I3973V probably benign Het
Spmip9 C A 6: 70,890,488 (GRCm39) R101S possibly damaging Het
Stoml1 T A 9: 58,164,359 (GRCm39) I149N probably damaging Het
Sytl1 A T 4: 132,985,057 (GRCm39) C180S probably benign Het
Traf6 T C 2: 101,518,850 (GRCm39) L113P possibly damaging Het
Trappc9 A G 15: 72,835,542 (GRCm39) probably benign Het
Tubg2 T C 11: 101,051,725 (GRCm39) Y317H probably damaging Het
Zfp334 T C 2: 165,222,433 (GRCm39) T537A 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
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 2015-04-16