Incidental Mutation 'R9718:Ldha'
ID 730601
Institutional Source Beutler Lab
Gene Symbol Ldha
Ensembl Gene ENSMUSG00000063229
Gene Name lactate dehydrogenase A
Synonyms l7R2, Ldh-1, LDH-A, lactate dehydrogenase-A, Ldh1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9718 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 46841475-46855627 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46855032 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 326 (Q326L)
Ref Sequence ENSEMBL: ENSMUSP00000148107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005051] [ENSMUST00000048209] [ENSMUST00000092621] [ENSMUST00000132157] [ENSMUST00000147535] [ENSMUST00000209548] [ENSMUST00000209984] [ENSMUST00000210467] [ENSMUST00000210631] [ENSMUST00000210815] [ENSMUST00000210968]
AlphaFold P06151
Predicted Effect probably benign
Transcript: ENSMUST00000005051
AA Change: Q297L

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000103267
Gene: ENSMUSG00000063229
AA Change: Q297L

Pfam:Ldh_1_N 50 189 2.5e-52 PFAM
Pfam:Ldh_1_C 192 360 2.7e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048209
AA Change: Q297L

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229
AA Change: Q297L

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

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: ENSMUST00000132157
Predicted Effect probably benign
Transcript: ENSMUST00000147535
SMART Domains Protein: ENSMUSP00000123356
Gene: ENSMUSG00000063229

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 possibly damaging
Transcript: ENSMUST00000209984
AA Change: Q326L

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000210467
Predicted Effect probably benign
Transcript: ENSMUST00000210631
Predicted Effect probably benign
Transcript: ENSMUST00000210815
AA Change: Q280L

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000210968
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik A C 2: 32,575,235 probably benign Het
Acvr1c A T 2: 58,315,995 D34E probably benign Het
Arhgef19 T C 4: 141,249,292 V455A probably damaging Het
Cbfa2t3 T A 8: 122,638,197 D282V probably benign Het
Ccl9 T A 11: 83,575,412 N114I probably benign Het
Cdan1 G T 2: 120,724,169 A875E probably damaging Het
Celf2 A T 2: 6,721,538 F61L probably damaging Het
Chd9 T C 8: 90,986,173 Y875H unknown Het
Ckap5 A T 2: 91,548,832 K39M probably benign Het
Clcn3 T C 8: 60,937,400 H169R possibly damaging Het
Csmd3 C A 15: 47,696,687 V1416F Het
Cyp4v3 A T 8: 45,320,666 H155Q probably damaging Het
Dhx36 A G 3: 62,472,045 F874S possibly damaging Het
Dnah14 A T 1: 181,622,979 Q719L probably benign Het
Evi2 C T 11: 79,515,757 V331M probably damaging Het
Fcgrt T G 7: 45,095,429 E205A possibly damaging Het
Fkrp G T 7: 16,811,187 T250N probably benign Het
Galc G A 12: 98,259,314 P6S Het
Gm13420 A T 2: 29,747,536 L42Q probably damaging Het
Gm5134 A T 10: 75,992,497 M304L possibly damaging Het
Gm813 A G 16: 58,614,611 L117S probably benign Het
Haao T C 17: 83,834,786 E208G probably damaging Het
Hook1 T A 4: 96,016,441 H553Q probably benign Het
Igdcc3 A G 9: 65,182,998 probably null Het
Ighv10-3 C T 12: 114,523,634 V56I probably benign Het
Ighv1-62-1 G T 12: 115,387,085 A15E probably benign Het
Krtap24-1 T C 16: 88,611,490 *249W probably null Het
Ktn1 T G 14: 47,673,051 I318R probably damaging Het
L3mbtl2 A G 15: 81,687,922 T710A unknown Het
Map4 G A 9: 110,072,706 probably null Het
Mdfic T A 6: 15,770,515 H173Q probably damaging Het
Noxred1 T A 12: 87,224,918 Q159L possibly damaging Het
Olfr114 C T 17: 37,590,023 G110D probably benign Het
Olfr584 T C 7: 103,085,989 V152A probably benign Het
Omd T C 13: 49,589,860 S129P probably damaging Het
Parp16 A G 9: 65,233,727 Y193C probably damaging Het
Pdzk1 A G 3: 96,855,858 T201A Het
Phldb2 T A 16: 45,781,393 H728L possibly damaging Het
Ptchd4 C T 17: 42,502,750 T514I probably damaging Het
Pusl1 T C 4: 155,891,637 D24G probably benign Het
Rai1 G A 11: 60,189,339 A1410T probably benign Het
Rint1 T A 5: 23,800,723 H134Q possibly damaging Het
Rnf170 A G 8: 26,129,215 S156G unknown Het
Rtf1 A G 2: 119,705,505 D180G possibly damaging Het
Sectm1a G T 11: 121,069,664 D108E probably damaging Het
Senp7 T A 16: 56,123,914 D200E probably damaging Het
Sfswap A G 5: 129,539,784 S431G probably benign Het
Sh3bp4 T A 1: 89,145,750 D773E probably damaging Het
Shprh T C 10: 11,213,504 L1662P probably damaging Het
Slx4 G T 16: 3,986,464 P829T possibly damaging Het
Snapc4 A T 2: 26,378,521 S43T probably damaging Het
Ssh3 C T 19: 4,262,409 R636Q probably benign Het
Strn4 G A 7: 16,838,571 V679M probably damaging Het
Tas2r121 T G 6: 132,700,802 Y69S probably benign Het
Tcerg1 C T 18: 42,530,771 T341M unknown Het
Tjp2 A C 19: 24,100,843 S895R probably damaging Het
Tmem220 G T 11: 67,025,260 A28S probably damaging Het
Trdv1 G A 14: 53,882,206 C109Y probably damaging Het
Trpc6 A G 9: 8,634,189 Y423C probably damaging Het
Ttn T C 2: 76,794,683 M15184V possibly damaging Het
Ugt2b37 T A 5: 87,242,943 Y355F probably benign Het
Vnn3 C T 10: 23,869,556 R468* probably null Het
Washc5 T A 15: 59,345,343 T792S probably benign Het
Wdfy4 T C 14: 33,125,936 M820V Het
Zfp961 T A 8: 71,968,089 C149S possibly damaging Het
Zmat4 G A 8: 23,748,491 V30M probably damaging Het
Other mutations in Ldha
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01456:Ldha APN 7 46850178 missense possibly damaging 0.79
IGL01993:Ldha APN 7 46855100 missense possibly damaging 0.73
IGL02814:Ldha APN 7 46850891 nonsense probably null
R0530:Ldha UTSW 7 46853993 missense probably damaging 0.99
R1302:Ldha UTSW 7 46847639 missense probably damaging 1.00
R4948:Ldha UTSW 7 46847381 missense probably benign 0.00
R5327:Ldha UTSW 7 46854098 missense probably benign
R5413:Ldha UTSW 7 46850896 missense possibly damaging 0.54
R5543:Ldha UTSW 7 46850890 missense possibly damaging 0.94
R5763:Ldha UTSW 7 46847789 intron probably benign
R7232:Ldha UTSW 7 46850899 missense probably benign 0.31
R7660:Ldha UTSW 7 46850257 missense unknown
R8155:Ldha UTSW 7 46854084 missense probably damaging 1.00
R8830:Ldha UTSW 7 46850278 missense probably benign 0.17
R9025:Ldha UTSW 7 46851009 missense unknown
R9775:Ldha UTSW 7 46841623 unclassified probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-10-06