Incidental Mutation 'R9775:Ldha'
ID 733636
Institutional Source Beutler Lab
Gene Symbol Ldha
Ensembl Gene ENSMUSG00000063229
Gene Name lactate dehydrogenase A
Synonyms Ldh1, Ldh-1, lactate dehydrogenase-A, LDH-A, l7R2
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9775 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 46491698-46505051 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 46491047 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048209] [ENSMUST00000092621] [ENSMUST00000125862] [ENSMUST00000133062] [ENSMUST00000147535] [ENSMUST00000209548] [ENSMUST00000210467] [ENSMUST00000210815] [ENSMUST00000210968]
AlphaFold P06151
Predicted Effect probably benign
Transcript: ENSMUST00000048209
SMART Domains Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229

DomainStartEndE-ValueType
Pfam:Ldh_1_N 21 160 3e-53 PFAM
Pfam:Ldh_1_C 163 331 1.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092621
SMART Domains Protein: ENSMUSP00000097661
Gene: ENSMUSG00000063229

DomainStartEndE-ValueType
Pfam:Ldh_1_N 21 160 3.9e-54 PFAM
Pfam:Ldh_1_C 163 237 3.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125862
Predicted Effect probably benign
Transcript: ENSMUST00000133062
Predicted Effect probably benign
Transcript: ENSMUST00000147535
SMART Domains Protein: ENSMUSP00000123356
Gene: ENSMUSG00000063229

DomainStartEndE-ValueType
Pfam:Ldh_1_N 58 197 5.7e-54 PFAM
Pfam:Ldh_1_C 200 273 5.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209548
Predicted Effect probably benign
Transcript: ENSMUST00000210467
Predicted Effect probably benign
Transcript: ENSMUST00000210815
Predicted Effect probably benign
Transcript: ENSMUST00000210968
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to hemolytic anemia and early postimplantation death in mice. Multiple transcript variants encoding different isoforms have been found for this gene. The mouse genome contains multiple pseudogenes of this gene. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for one chemically induced mutation exhibit severe hemolytic anemia with pronounced reticulocytosis and hyperbilirubinemia. Another mutation results in prenatal lethality in homozygotes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700069L16Rik T G 5: 113,861,765 (GRCm39) Q35P unknown Het
Angptl2 G A 2: 33,118,230 (GRCm39) M1I probably null Het
Bptf T C 11: 106,934,502 (GRCm39) E223G probably benign Het
C2cd3 T A 7: 100,076,458 (GRCm39) I805N Het
Cep152 G A 2: 125,423,660 (GRCm39) Q914* probably null Het
Clasp2 A G 9: 113,725,740 (GRCm39) T794A probably benign Het
Cntnap2 A G 6: 47,026,261 (GRCm39) Y970C probably damaging Het
Ddx11 G T 17: 66,445,157 (GRCm39) V360L probably damaging Het
Fer1l6 G A 15: 58,497,098 (GRCm39) V1223I probably benign Het
Fez2 A T 17: 78,708,183 (GRCm39) I255N probably damaging Het
Gata3 A G 2: 9,863,197 (GRCm39) V439A possibly damaging Het
Il23a G C 10: 128,132,829 (GRCm39) R143G probably benign Het
Kcnj9 T A 1: 172,153,741 (GRCm39) I128F probably damaging Het
Klhdc2 A G 12: 69,350,393 (GRCm39) D146G probably damaging Het
Klra6 T A 6: 129,999,639 (GRCm39) R110W probably damaging Het
Lingo2 C A 4: 35,708,781 (GRCm39) A400S probably benign Het
Lrrd1 A T 5: 3,899,897 (GRCm39) R67S probably benign Het
Mapk6 C T 9: 75,295,668 (GRCm39) C610Y possibly damaging Het
Mia3 G A 1: 183,109,125 (GRCm39) R656* probably null Het
Myoz2 T C 3: 122,807,399 (GRCm39) E137G probably damaging Het
Nemp2 T A 1: 52,680,064 (GRCm39) I96N probably damaging Het
Npy1r A G 8: 67,157,742 (GRCm39) M351V possibly damaging Het
Nsg2 G A 11: 32,005,029 (GRCm39) S77N possibly damaging Het
Or10ag53 A G 2: 87,082,568 (GRCm39) M96V probably damaging Het
Or5ac17 T A 16: 59,036,069 (GRCm39) R302S possibly damaging Het
Or6c5c T C 10: 129,298,677 (GRCm39) I44T probably benign Het
Osbpl9 G A 4: 109,013,747 (GRCm39) probably benign Het
Pcolce2 G A 9: 95,520,797 (GRCm39) C58Y probably damaging Het
Piezo1 A G 8: 123,208,927 (GRCm39) F2480L probably damaging Het
Pip5k1c T A 10: 81,147,853 (GRCm39) D419E probably damaging Het
Plppr1 A T 4: 49,323,435 (GRCm39) T242S probably benign Het
Ppp1r13b A C 12: 111,803,457 (GRCm39) S254A possibly damaging Het
Pramel17 A G 4: 101,694,244 (GRCm39) M213T probably benign Het
Ripk3 A G 14: 56,023,252 (GRCm39) L151S unknown Het
Scmh1 A T 4: 120,340,820 (GRCm39) M169L probably benign Het
Serpinb9d A T 13: 33,382,007 (GRCm39) R159W probably damaging Het
Slc26a9 A G 1: 131,690,970 (GRCm39) R583G possibly damaging Het
Smim8 T C 4: 34,769,068 (GRCm39) E72G probably damaging Het
Sned1 A G 1: 93,199,604 (GRCm39) N511S probably damaging Het
Srprb A C 9: 103,078,490 (GRCm39) V80G probably benign Het
Ssx2ip G A 3: 146,136,808 (GRCm39) S352N probably benign Het
Tbccd1 A G 16: 22,652,666 (GRCm39) S152P probably damaging Het
Tenm4 T C 7: 96,555,761 (GRCm39) I2822T possibly damaging Het
Tff1 A G 17: 31,383,972 (GRCm39) V8A probably benign Het
Tmem132b T A 5: 125,864,566 (GRCm39) S891T probably benign Het
Tmem200c T A 17: 69,149,118 (GRCm39) V567D probably damaging Het
Trim3 G A 7: 105,260,377 (GRCm39) T708M probably damaging Het
Ttn T C 2: 76,544,927 (GRCm39) N32725S possibly damaging Het
Ubash3b T G 9: 40,926,214 (GRCm39) E633A possibly damaging Het
Usp4 A G 9: 108,239,780 (GRCm39) R170G probably damaging Het
Wdr33 T A 18: 32,037,406 (GRCm39) L1222Q unknown Het
Zfhx2 A G 14: 55,304,562 (GRCm39) S1141P probably benign Het
Other mutations in Ldha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01456:Ldha APN 7 46,499,602 (GRCm39) missense possibly damaging 0.79
IGL01993:Ldha APN 7 46,504,524 (GRCm39) missense possibly damaging 0.73
IGL02814:Ldha APN 7 46,500,315 (GRCm39) nonsense probably null
R0530:Ldha UTSW 7 46,503,417 (GRCm39) missense probably damaging 0.99
R1302:Ldha UTSW 7 46,497,063 (GRCm39) missense probably damaging 1.00
R4948:Ldha UTSW 7 46,496,805 (GRCm39) missense probably benign 0.00
R5327:Ldha UTSW 7 46,503,522 (GRCm39) missense probably benign
R5413:Ldha UTSW 7 46,500,320 (GRCm39) missense possibly damaging 0.54
R5543:Ldha UTSW 7 46,500,314 (GRCm39) missense possibly damaging 0.94
R5763:Ldha UTSW 7 46,497,213 (GRCm39) intron probably benign
R7232:Ldha UTSW 7 46,500,323 (GRCm39) missense probably benign 0.31
R7660:Ldha UTSW 7 46,499,681 (GRCm39) missense unknown
R8155:Ldha UTSW 7 46,503,508 (GRCm39) missense probably damaging 1.00
R8830:Ldha UTSW 7 46,499,702 (GRCm39) missense probably benign 0.17
R9025:Ldha UTSW 7 46,500,433 (GRCm39) missense unknown
R9718:Ldha UTSW 7 46,504,456 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- GACAGGTGCCATTCTCTCAC -3'
(R):5'- TTTTGGTGGCCGGAAGTCAC -3'

Sequencing Primer
(F):5'- ACAGGTGCCATTCTCTCACTTGAG -3'
(R):5'- TGGCCGGAAGTCACTAAAGTTTC -3'
Posted On 2022-11-14