Incidental Mutation 'R9438:Ldhc'
ID 713371
Institutional Source Beutler Lab
Gene Symbol Ldhc
Ensembl Gene ENSMUSG00000030851
Gene Name lactate dehydrogenase C
Synonyms Ldhc4, Ldh3, Ldh-3
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R9438 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 46510687-46527571 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46515857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 51 (V51F)
Ref Sequence ENSEMBL: ENSMUSP00000014545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014545] [ENSMUST00000126004] [ENSMUST00000148565] [ENSMUST00000210585] [ENSMUST00000211784]
AlphaFold P00342
PDB Structure CHARACTERIZATION OF THE ANTIGENIC SITES ON THE REFINED 3-ANGSTROMS RESOLUTION STRUCTURE OF MOUSE TESTICULAR LACTATE DEHYDROGENASE C4 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000014545
AA Change: V51F

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000014545
Gene: ENSMUSG00000030851
AA Change: V51F

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: V51F

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115652
Gene: ENSMUSG00000030851
AA Change: V51F

DomainStartEndE-ValueType
Pfam:Ldh_1_N 21 160 1.1e-49 PFAM
Pfam:Ldh_1_C 163 236 1.2e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000148565
AA Change: V51F

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114206
Gene: ENSMUSG00000030851
AA Change: V51F

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: V51F

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000211784
AA Change: V51F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (60/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp2 G A 2: 91,033,339 (GRCm39) M20I probably benign Het
Adgra1 C T 7: 139,432,525 (GRCm39) P121L probably benign Het
Arhgap39 C A 15: 76,636,118 (GRCm39) R39L probably damaging Het
Atp1b3 A T 9: 96,215,631 (GRCm39) N261K possibly damaging Het
Atp8b3 C T 10: 80,361,409 (GRCm39) A838T probably damaging Het
Cacng8 G A 7: 3,463,919 (GRCm39) S357N unknown Het
Calhm5 T C 10: 33,972,049 (GRCm39) M129V probably benign Het
Ccdc93 C T 1: 121,369,584 (GRCm39) Q109* probably null Het
Cdk19 T A 10: 40,352,176 (GRCm39) D319E probably damaging Het
Chd6 A G 2: 160,799,078 (GRCm39) S2336P probably benign Het
Cntn1 G A 15: 92,144,024 (GRCm39) probably null Het
Cts6 G A 13: 61,350,069 (GRCm39) T4I probably benign Het
Ddt A T 10: 75,607,332 (GRCm39) I98N probably damaging Het
Diaph1 A C 18: 38,026,443 (GRCm39) V465G unknown Het
Dnah2 G T 11: 69,364,220 (GRCm39) D2064E probably damaging Het
Dnmt1 T C 9: 20,827,190 (GRCm39) N969D probably benign Het
Dot1l T A 10: 80,627,120 (GRCm39) V1447E probably benign Het
Efs T A 14: 55,156,868 (GRCm39) D389V Het
Gbp11 T A 5: 105,474,471 (GRCm39) K402* probably null Het
Grm7 A T 6: 111,231,077 (GRCm39) D500V possibly damaging Het
Hecw1 T C 13: 14,481,414 (GRCm39) M439V probably benign Het
Ice1 A G 13: 70,754,434 (GRCm39) S551P probably benign Het
Igsf9b T C 9: 27,243,839 (GRCm39) S779P probably benign Het
Itpr2 T C 6: 146,068,166 (GRCm39) N2437S probably benign Het
Kbtbd12 G A 6: 88,591,040 (GRCm39) Q391* probably null Het
Kcnma1 T C 14: 23,417,653 (GRCm39) I859V probably benign Het
Klri1 A C 6: 129,675,879 (GRCm39) D130E probably benign Het
Krt9 A G 11: 100,079,824 (GRCm39) Y523H unknown Het
Macf1 G T 4: 123,279,366 (GRCm39) D5890E probably benign Het
Map4k4 A G 1: 40,045,952 (GRCm39) S613G probably damaging Het
Mrpl55 A G 11: 59,096,581 (GRCm39) D118G probably damaging Het
Muc16 T C 9: 18,559,028 (GRCm39) T2422A unknown Het
Nfkbib T A 7: 28,459,654 (GRCm39) D219V probably damaging Het
Nsd2 A G 5: 34,000,632 (GRCm39) K50E probably damaging Het
Nudcd1 C T 15: 44,269,321 (GRCm39) R113H probably benign Het
Or5p55 A T 7: 107,567,000 (GRCm39) Y132F probably damaging Het
Or7e170 C T 9: 19,795,083 (GRCm39) E173K probably benign Het
Or7g19 T A 9: 18,856,326 (GRCm39) C127* probably null Het
Papln A T 12: 83,818,606 (GRCm39) T63S probably benign Het
Pax4 T C 6: 28,446,185 (GRCm39) I103V possibly damaging Het
Pitpnm2 G A 5: 124,269,342 (GRCm39) H427Y probably damaging Het
Plk5 T A 10: 80,193,867 (GRCm39) V52E probably damaging Het
Prr23a4 G A 9: 98,785,833 (GRCm39) S166N probably benign Het
Rab44 A G 17: 29,364,226 (GRCm39) H600R unknown Het
Rbbp6 G A 7: 122,599,456 (GRCm39) V1256I Het
Rexo1 T A 10: 80,378,848 (GRCm39) T1063S possibly damaging Het
Rp1l1 A G 14: 64,265,574 (GRCm39) R387G possibly damaging Het
Rufy3 T C 5: 88,796,124 (GRCm39) S603P probably benign Het
Setd1b A G 5: 123,285,944 (GRCm39) H330R unknown Het
Strc A T 2: 121,198,647 (GRCm39) W1415R probably damaging Het
Tcstv5 A G 13: 120,411,363 (GRCm39) L81P probably benign Het
Terf2 C A 8: 107,803,504 (GRCm39) A359S probably benign Het
Tmod1 A G 4: 46,093,958 (GRCm39) N223S probably damaging Het
Tram2 T A 1: 21,075,834 (GRCm39) I195F possibly damaging Het
Trap1 T C 16: 3,883,131 (GRCm39) Q148R probably benign Het
Tsks C T 7: 44,607,095 (GRCm39) R143* probably null Het
Ttc14 T A 3: 33,858,861 (GRCm39) H373Q probably damaging Het
Ttn T C 2: 76,747,748 (GRCm39) K4434E probably benign Het
Usp7 T C 16: 8,522,833 (GRCm39) D347G probably benign Het
Vps13d T C 4: 144,858,314 (GRCm39) E2170G Het
Xrn1 T C 9: 95,893,287 (GRCm39) I1001T probably benign 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
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
R9490:Ldhc UTSW 7 46,519,184 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACAGTTTAGTCGGTGTTAGCATA -3'
(R):5'- ACATACTGATTAAAGCCAATTTGGTA -3'

Sequencing Primer
(F):5'- CCTGGTCTACACAGTGAGTTGC -3'
(R):5'- CCCTCAAACTTGGTATGTAGCTGAG -3'
Posted On 2022-05-16