Incidental Mutation 'R7905:Ldhc'
ID 633409
Institutional Source Beutler Lab
Gene Symbol Ldhc
Ensembl Gene ENSMUSG00000030851
Gene Name lactate dehydrogenase C
Synonyms Ldhc4, Ldh3, Ldh-3
MMRRC Submission 045957-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.241) question?
Stock # R7905 (G1)
Quality Score 194.009
Status Validated
Chromosome 7
Chromosomal Location 46510687-46527571 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 46524955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000014545
Gene: ENSMUSG00000030851

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
SMART Domains Protein: ENSMUSP00000115652
Gene: ENSMUSG00000030851

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
SMART Domains Protein: ENSMUSP00000114206
Gene: ENSMUSG00000030851

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
Predicted Effect probably null
Transcript: ENSMUST00000211784
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 T C 17: 33,652,801 (GRCm39) V287A possibly damaging Het
Adcy10 T A 1: 165,340,737 (GRCm39) probably null Het
Aox1 G A 1: 58,143,557 (GRCm39) S1225N possibly damaging Het
B430306N03Rik T A 17: 48,623,988 (GRCm39) S96R probably benign Het
Bpifa5 T C 2: 154,007,508 (GRCm39) I150T probably damaging Het
Ccdc28a A T 10: 18,094,076 (GRCm39) V181D probably benign Het
Cd40 T C 2: 164,904,245 (GRCm39) Y31H probably damaging Het
Cep290 A G 10: 100,390,352 (GRCm39) T2032A probably benign Het
Cnbd1 T C 4: 18,907,100 (GRCm39) K158R possibly damaging Het
Degs1 A C 1: 182,106,601 (GRCm39) N255K possibly damaging Het
Dll3 T G 7: 28,000,960 (GRCm39) I32L possibly damaging Het
Dsg4 A T 18: 20,587,726 (GRCm39) I278F probably damaging Het
Ets2 T A 16: 95,507,304 (GRCm39) I6N probably damaging Het
Gbp4 A G 5: 105,268,953 (GRCm39) F400S probably damaging Het
Golgb1 C T 16: 36,734,047 (GRCm39) A1139V probably benign Het
Hfm1 A T 5: 107,046,419 (GRCm39) L489H probably damaging Het
Kcna5 T C 6: 126,511,831 (GRCm39) D99G probably benign Het
Mief1 C G 15: 80,133,599 (GRCm39) P219A probably damaging Het
Myh11 A T 16: 14,025,545 (GRCm39) Y1408* probably null Het
Myo1b A G 1: 51,803,043 (GRCm39) probably null Het
Nedd4 A T 9: 72,584,661 (GRCm39) K121* probably null Het
Nek9 A C 12: 85,352,370 (GRCm39) M831R probably damaging Het
Nf1 G A 11: 79,437,938 (GRCm39) A83T possibly damaging Het
Or6c203 A T 10: 129,010,056 (GRCm39) I278N probably damaging Het
Osbpl10 T C 9: 114,891,078 (GRCm39) probably null Het
Pcdhb6 T C 18: 37,467,607 (GRCm39) L176P probably benign Het
Plxnb1 G A 9: 108,938,300 (GRCm39) V1285M probably damaging Het
Psg26 T A 7: 18,209,242 (GRCm39) M389L probably benign Het
Slc49a4 G A 16: 35,589,320 (GRCm39) P98S probably benign Het
Slc4a10 A G 2: 62,098,495 (GRCm39) E543G probably damaging Het
Spata31h1 A G 10: 82,131,936 (GRCm39) I358T probably benign Het
Spink7 G T 18: 62,725,487 (GRCm39) C85* probably null Het
Stard9 T C 2: 120,526,562 (GRCm39) W940R not run Het
Susd2 A T 10: 75,475,491 (GRCm39) L471* probably null Het
Taf2 A T 15: 54,910,828 (GRCm39) D615E possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tfdp2 T C 9: 96,192,659 (GRCm39) S14P Het
Tha1 A C 11: 117,761,893 (GRCm39) V116G possibly damaging Het
Trim46 T C 3: 89,151,633 (GRCm39) H50R probably damaging Het
Trit1 A G 4: 122,910,508 (GRCm39) K36E probably damaging Het
Ttc13 A T 8: 125,415,335 (GRCm39) M268K probably benign Het
Ufc1 T A 1: 171,117,508 (GRCm39) K68N probably damaging Het
Zbbx T C 3: 74,992,820 (GRCm39) T225A probably benign Het
Zfp768 T C 7: 126,943,831 (GRCm39) E102G 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
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
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'- AGTCTAACAATTTGGGGATGGG -3'
(R):5'- TACGCCAGCAACGTTTACAC -3'

Sequencing Primer
(F):5'- GATATCAGGAATTTGAGGCCATC -3'
(R):5'- ACGTTTACACCACTCCATATGGG -3'
Posted On 2020-07-01