Incidental Mutation 'IGL03290:Ldhc'
ID 415857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldhc
Ensembl Gene ENSMUSG00000030851
Gene Name lactate dehydrogenase C
Synonyms Ldhc4, Ldh3, Ldh-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # IGL03290
Quality Score
Status
Chromosome 7
Chromosomal Location 46510687-46527571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46519112 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 112 (R112C)
Ref Sequence ENSEMBL: ENSMUSP00000148038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014545] [ENSMUST00000126004] [ENSMUST00000148565] [ENSMUST00000210585] [ENSMUST00000211784]
AlphaFold P00342
Predicted Effect possibly damaging
Transcript: ENSMUST00000014545
AA Change: R112C

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000014545
Gene: ENSMUSG00000030851
AA Change: R112C

DomainStartEndE-ValueType
Pfam:Ldh_1_N 21 160 7.6e-48 PFAM
Pfam:Ldh_1_C 163 331 5.4e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000126004
AA Change: R112C

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115652
Gene: ENSMUSG00000030851
AA Change: R112C

DomainStartEndE-ValueType
Pfam:Ldh_1_N 21 160 1.1e-49 PFAM
Pfam:Ldh_1_C 163 236 1.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148565
AA Change: R112C

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114206
Gene: ENSMUSG00000030851
AA Change: R112C

DomainStartEndE-ValueType
Pfam:Ldh_1_N 21 160 1.1e-49 PFAM
Pfam:Ldh_1_C 163 234 1.3e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210585
AA Change: R112C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211784
AA Change: R112C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lactate dehydrogenase C catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. LDHC is testis-specific and belongs to the lactate dehydrogenase family. Two transcript variants have been detected which differ in the 5' untranslated region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous male mice are infertile. Spermatogenesis appears normal, but sperm motility decreases rapidly after their release from the epididymus. In vitro fertilization is blocked unless the zona pellucida is removed; even then, the rate of sperm penetration is lower than for wild-type sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,302,646 (GRCm39) probably benign Het
Asb18 A G 1: 89,942,296 (GRCm39) S2P probably damaging Het
Atp2b2 A G 6: 113,770,715 (GRCm39) F398S probably damaging Het
BC034090 T G 1: 155,101,856 (GRCm39) D136A probably damaging Het
Ces5a A C 8: 94,246,260 (GRCm39) F310V probably damaging Het
Chsy1 T C 7: 65,820,779 (GRCm39) V338A probably benign Het
Dbh A G 2: 27,064,944 (GRCm39) E385G probably damaging Het
Dnah14 T A 1: 181,591,543 (GRCm39) probably benign Het
F2rl1 A G 13: 95,650,097 (GRCm39) S262P possibly damaging Het
Fat2 T C 11: 55,147,045 (GRCm39) N3984D probably benign Het
Fbxo38 A T 18: 62,659,234 (GRCm39) H354Q probably benign Het
Fgf6 T A 6: 127,001,095 (GRCm39) V201D probably damaging Het
Gm16181 A T 17: 35,442,933 (GRCm39) probably benign Het
Gm6811 T C 17: 21,314,311 (GRCm39) noncoding transcript Het
Gna11 A G 10: 81,366,771 (GRCm39) F313S probably damaging Het
Gprc6a C T 10: 51,491,968 (GRCm39) A523T probably damaging Het
Il22 T C 10: 118,041,785 (GRCm39) probably null Het
Insr T C 8: 3,308,574 (GRCm39) Y154C probably damaging Het
Irak4 T A 15: 94,449,780 (GRCm39) D86E probably benign Het
Itk C A 11: 46,225,764 (GRCm39) W529L probably damaging Het
Klhl6 C A 16: 19,765,887 (GRCm39) A572S probably benign Het
Lrrc56 T C 7: 140,779,685 (GRCm39) probably benign Het
Mdh2 A G 5: 135,818,567 (GRCm39) E274G probably damaging Het
N4bp1 G T 8: 87,575,161 (GRCm39) D711E probably benign Het
Ngly1 T A 14: 16,281,866 (GRCm38) I248K probably damaging Het
Or2ab1 A G 11: 58,489,149 (GRCm39) N309S probably damaging Het
Or7e176 T C 9: 20,171,556 (GRCm39) I140T probably damaging Het
Pbrm1 A G 14: 30,829,241 (GRCm39) E1421G probably damaging Het
Pcca G A 14: 122,822,518 (GRCm39) R112H possibly damaging Het
Pgrmc2 T C 3: 41,023,061 (GRCm39) probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Pogz A T 3: 94,782,402 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,754,771 (GRCm39) Y159H probably damaging Het
Rax T C 18: 66,071,231 (GRCm39) K135E probably damaging Het
Rbm7 T A 9: 48,401,267 (GRCm39) M154L probably benign Het
Rp1 A G 1: 4,420,264 (GRCm39) S283P probably damaging Het
Rpusd4 T C 9: 35,179,273 (GRCm39) S30P probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Sfxn4 A G 19: 60,848,508 (GRCm39) W22R probably damaging Het
Sh3pxd2a T A 19: 47,412,955 (GRCm39) R43W probably damaging Het
Smc5 A G 19: 23,251,022 (GRCm39) V54A probably benign Het
Snap47 A G 11: 59,319,424 (GRCm39) I238T probably damaging Het
Tecpr2 T G 12: 110,934,267 (GRCm39) I1309S possibly damaging Het
Trappc8 A G 18: 20,953,992 (GRCm39) L1310P probably damaging Het
Vmn2r61 T A 7: 41,915,408 (GRCm39) H118Q probably benign Het
Zbtb17 C T 4: 141,194,244 (GRCm39) T731I probably damaging Het
Zfp287 A G 11: 62,606,062 (GRCm39) F282L probably damaging Het
Other mutations in Ldhc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1970:Ldhc UTSW 7 46,519,175 (GRCm39) missense probably benign 0.09
R2133:Ldhc UTSW 7 46,519,023 (GRCm39) missense probably damaging 1.00
R4277:Ldhc UTSW 7 46,515,890 (GRCm39) missense probably benign 0.01
R5449:Ldhc UTSW 7 46,519,082 (GRCm39) missense possibly damaging 0.82
R6713:Ldhc UTSW 7 46,515,955 (GRCm39) splice site probably null
R7905:Ldhc UTSW 7 46,524,955 (GRCm39) splice site probably null
R8856:Ldhc UTSW 7 46,525,999 (GRCm39) missense probably benign 0.10
R9438:Ldhc UTSW 7 46,515,857 (GRCm39) missense possibly damaging 0.75
R9490:Ldhc UTSW 7 46,519,184 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02