Incidental Mutation 'R5449:Ldhc'
ID 429224
Institutional Source Beutler Lab
Gene Symbol Ldhc
Ensembl Gene ENSMUSG00000030851
Gene Name lactate dehydrogenase C
Synonyms Ldhc4, Ldh3, Ldh-3
MMRRC Submission 043014-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R5449 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 46510687-46527571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46519082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 102 (S102P)
Ref Sequence ENSEMBL: ENSMUSP00000148038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014545] [ENSMUST00000126004] [ENSMUST00000148565] [ENSMUST00000210585] [ENSMUST00000211784]
AlphaFold P00342
Predicted Effect probably benign
Transcript: ENSMUST00000014545
AA Change: S102P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000014545
Gene: ENSMUSG00000030851
AA Change: S102P

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: S102P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115652
Gene: ENSMUSG00000030851
AA Change: S102P

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: S102P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114206
Gene: ENSMUSG00000030851
AA Change: S102P

DomainStartEndE-ValueType
Pfam:Ldh_1_N 21 160 1.1e-49 PFAM
Pfam:Ldh_1_C 163 234 1.3e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210585
AA Change: S102P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000211784
AA Change: S102P

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,123,579 (GRCm39) I98F probably benign Het
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A630010A05Rik A G 16: 14,436,537 (GRCm39) K197E possibly damaging Het
Agrn A G 4: 156,251,737 (GRCm39) probably null Het
Atad5 A G 11: 80,014,934 (GRCm39) I1337V probably damaging Het
Cd44 T C 2: 102,662,891 (GRCm39) T550A probably damaging Het
Cdk5rap2 A C 4: 70,194,888 (GRCm39) L952V probably benign Het
Cep104 T A 4: 154,069,762 (GRCm39) probably null Het
Cfl1 A G 19: 5,543,521 (GRCm39) *167W probably null Het
Col22a1 T C 15: 71,693,798 (GRCm39) D734G unknown Het
Cry1 G A 10: 84,968,999 (GRCm39) L581F probably benign Het
Dmpk A G 7: 18,824,916 (GRCm39) D406G probably benign Het
Faah T C 4: 115,856,692 (GRCm39) probably null Het
Fchsd2 T C 7: 100,926,731 (GRCm39) F607S probably damaging Het
Fga CAAAG CAAAGAAAG 3: 82,938,169 (GRCm39) probably null Het
Hdac5 G A 11: 102,086,923 (GRCm39) Q46* probably null Het
Hltf A G 3: 20,123,247 (GRCm39) T212A possibly damaging Het
Ilvbl G A 10: 78,412,862 (GRCm39) probably null Het
Med12l T C 3: 59,167,127 (GRCm39) V1529A probably damaging Het
Nlrp9a A G 7: 26,257,254 (GRCm39) I202V probably benign Het
Nscme3l G A 19: 5,553,292 (GRCm39) T163M probably benign Het
Pdc A C 1: 150,209,190 (GRCm39) L224F probably damaging Het
Pgr T C 9: 8,956,344 (GRCm39) V764A possibly damaging Het
Plxna1 T C 6: 89,300,590 (GRCm39) D1578G probably damaging Het
Prpf40a G T 2: 53,046,938 (GRCm39) T266N possibly damaging Het
Ptrh1 A G 2: 32,666,358 (GRCm39) S37G probably damaging Het
Rgs9 T C 11: 109,116,570 (GRCm39) D411G probably benign Het
Riok3 A T 18: 12,288,303 (GRCm39) E493D probably damaging Het
Rnf213 T C 11: 119,305,902 (GRCm39) M570T probably benign Het
Scamp2 A G 9: 57,488,154 (GRCm39) D187G probably damaging Het
Scn1a T A 2: 66,151,346 (GRCm39) I819F probably damaging Het
Slc7a5 C A 8: 122,613,087 (GRCm39) W330C probably damaging Het
Syn3 A T 10: 86,187,434 (GRCm39) F230Y probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Tro T C X: 149,428,966 (GRCm39) probably benign Het
Ubr1 T A 2: 120,793,981 (GRCm39) M68L probably benign Het
Vmn1r120 A C 7: 20,787,074 (GRCm39) H212Q possibly damaging Het
Vmn1r46 T C 6: 89,953,343 (GRCm39) V64A probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp384 T C 6: 125,001,101 (GRCm39) S58P probably 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
R4277:Ldhc UTSW 7 46,515,890 (GRCm39) missense probably benign 0.01
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'- ATGCTACAGTGTGGGGTCTC -3'
(R):5'- TAACCATGAGTACAACCTCTGTG -3'

Sequencing Primer
(F):5'- CTCTGTTTCCAAATCCAGGATAGGAG -3'
(R):5'- TTACTCAGAAAGGGCAGG -3'
Posted On 2016-09-06