Incidental Mutation 'R4277:Ldhc'
ID 322740
Institutional Source Beutler Lab
Gene Symbol Ldhc
Ensembl Gene ENSMUSG00000030851
Gene Name lactate dehydrogenase C
Synonyms Ldhc4, Ldh3, Ldh-3
MMRRC Submission 041078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R4277 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 46510687-46527571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46515890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 62 (A62T)
Ref Sequence ENSEMBL: ENSMUSP00000115652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014545] [ENSMUST00000126004] [ENSMUST00000148565] [ENSMUST00000210585] [ENSMUST00000211784]
AlphaFold P00342
Predicted Effect probably benign
Transcript: ENSMUST00000014545
AA Change: A62T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000014545
Gene: ENSMUSG00000030851
AA Change: A62T

DomainStartEndE-ValueType
Pfam:Ldh_1_N 21 160 7.6e-48 PFAM
Pfam:Ldh_1_C 163 331 5.4e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126004
AA Change: A62T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000115652
Gene: ENSMUSG00000030851
AA Change: A62T

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: A62T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000114206
Gene: ENSMUSG00000030851
AA Change: A62T

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 benign
Transcript: ENSMUST00000210585
AA Change: A62T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000211784
AA Change: A62T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (33/33)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b7 A G 6: 34,397,955 (GRCm39) probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cdh20 T A 1: 109,993,418 (GRCm39) I291K probably benign Het
Cdhr3 T G 12: 33,110,232 (GRCm39) S351R probably null Het
Dnah10 T C 5: 124,809,394 (GRCm39) S221P probably benign Het
Dstyk G A 1: 132,383,151 (GRCm39) probably null Het
Ern1 T C 11: 106,298,007 (GRCm39) I705V probably benign Het
Folh1 A G 7: 86,412,123 (GRCm39) probably null Het
Hemk1 A G 9: 107,205,728 (GRCm39) Y260H possibly damaging Het
Jmjd8 A G 17: 26,048,787 (GRCm39) probably benign Het
Ndufs1 C T 1: 63,209,256 (GRCm39) V36I possibly damaging Het
Nsun4 C T 4: 115,891,479 (GRCm39) G300D probably damaging Het
Nsun5 A G 5: 135,398,914 (GRCm39) Y26C probably damaging Het
Ntn4 T C 10: 93,577,072 (GRCm39) I580T possibly damaging Het
Or7d10 A G 9: 19,831,685 (GRCm39) Y60C possibly damaging Het
Rasal2 A T 1: 156,984,696 (GRCm39) I992N possibly damaging Het
Rasgrp4 T A 7: 28,852,019 (GRCm39) probably benign Het
Rbp3 G A 14: 33,680,607 (GRCm39) V1070I probably benign Het
Sp140l1 C T 1: 85,066,521 (GRCm39) probably benign Het
Spp2 T C 1: 88,338,873 (GRCm39) F79L probably damaging Het
Tmem260 C T 14: 48,715,093 (GRCm39) T249M probably damaging Het
Trpv3 A G 11: 73,187,264 (GRCm39) T699A probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vegfa A G 17: 46,342,392 (GRCm39) V142A probably benign Het
Vnn1 A T 10: 23,774,410 (GRCm39) D151V possibly damaging Het
Other mutations in Ldhc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03290:Ldhc APN 7 46,519,112 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTGGGATCAGACTCAAGGCCTC -3'
(R):5'- GTCCTAATGACAGTGATTCGTTTTG -3'

Sequencing Primer
(F):5'- TCACACACGCAAGGCAGG -3'
(R):5'- CCCTCAAACTTGGTATGTAGCTGAG -3'
Posted On 2015-06-20