Incidental Mutation 'IGL02814:Ldha'
ID360729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldha
Ensembl Gene ENSMUSG00000063229
Gene Namelactate dehydrogenase A
Synonymsl7R2, Ldh-1, LDH-A, lactate dehydrogenase-A, Ldh1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02814
Quality Score
Status
Chromosome7
Chromosomal Location46841475-46855627 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 46850891 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 133 (Y133*)
Ref Sequence ENSEMBL: ENSMUSP00000147825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005051] [ENSMUST00000048209] [ENSMUST00000092621] [ENSMUST00000125862] [ENSMUST00000132157] [ENSMUST00000133062] [ENSMUST00000147535] [ENSMUST00000209548] [ENSMUST00000209984] [ENSMUST00000210467] [ENSMUST00000210631] [ENSMUST00000210815] [ENSMUST00000210968]
Predicted Effect probably benign
Transcript: ENSMUST00000005051
AA Change: I142N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000103267
Gene: ENSMUSG00000063229
AA Change: I142N

DomainStartEndE-ValueType
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: I142N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229
AA Change: I142N

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
AA Change: I142N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097661
Gene: ENSMUSG00000063229
AA Change: I142N

DomainStartEndE-ValueType
Pfam:Ldh_1_N 21 160 3.9e-54 PFAM
Pfam:Ldh_1_C 163 237 3.3e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124696
Predicted Effect probably benign
Transcript: ENSMUST00000125862
Predicted Effect possibly damaging
Transcript: ENSMUST00000132157
AA Change: I142N

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000133062
Predicted Effect probably benign
Transcript: ENSMUST00000147535
AA Change: I142N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123356
Gene: ENSMUSG00000063229
AA Change: I142N

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
AA Change: I142N

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209984
AA Change: I171N

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210198
Predicted Effect probably benign
Transcript: ENSMUST00000210467
Predicted Effect probably null
Transcript: ENSMUST00000210631
AA Change: Y133*
Predicted Effect probably benign
Transcript: ENSMUST00000210815
AA Change: I125N

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000210968
Coding Region Coverage
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700081O15Rik C A 19: 7,420,422 N111K possibly damaging Het
Abca9 A T 11: 110,154,467 F347I possibly damaging Het
Adcy5 A G 16: 35,303,649 T1233A probably benign Het
Blnk C T 19: 40,962,429 D93N probably damaging Het
Cadps2 T C 6: 23,321,707 E1083G probably damaging Het
Capn8 C A 1: 182,598,771 L224M probably damaging Het
Cdh4 A T 2: 179,780,474 E130D probably benign Het
Cgn G A 3: 94,774,240 T515M probably benign Het
Chrna10 C T 7: 102,112,262 G374D probably benign Het
Chrnb1 T A 11: 69,795,680 Y38F probably damaging Het
Cyld A G 8: 88,744,897 D621G probably benign Het
Cyp4f37 T C 17: 32,634,671 F443S probably benign Het
Dctn1 C A 6: 83,189,914 A152E probably damaging Het
Eml4 T A 17: 83,441,362 Y228* probably null Het
Fbln2 T A 6: 91,265,857 C846* probably null Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gart T C 16: 91,623,457 S833G possibly damaging Het
Gda T C 19: 21,428,475 probably null Het
Gjb5 C T 4: 127,355,562 R263Q probably benign Het
Gtf2i T C 5: 134,286,704 K193E probably damaging Het
Hist2h4 C A 3: 96,263,287 K6N probably benign Het
Ints1 C T 5: 139,772,391 E244K possibly damaging Het
Kat14 G A 2: 144,402,463 S412N probably benign Het
Kcnn3 A T 3: 89,521,175 H236L possibly damaging Het
Kif15 T A 9: 123,003,640 I1005K possibly damaging Het
Klrc1 T C 6: 129,678,892 T7A possibly damaging Het
Lcp2 T C 11: 34,071,033 S130P probably damaging Het
Lrp2 A G 2: 69,506,736 C1231R probably damaging Het
Lrrn1 T A 6: 107,567,352 V37D probably damaging Het
Mep1a T A 17: 43,477,221 H648L probably benign Het
Mmp25 C T 17: 23,639,762 G272R probably damaging Het
Myh15 A G 16: 49,145,438 probably benign Het
Myl3 G T 9: 110,767,991 E140* probably null Het
Nlrp4f A G 13: 65,185,042 S809P probably damaging Het
Nrde2 T C 12: 100,144,135 I207M probably null Het
Olfr1373 C T 11: 52,144,810 C240Y probably damaging Het
Olfr474 T C 7: 107,954,770 I43T probably benign Het
Olfr541 T C 7: 140,705,133 L294P probably damaging Het
Paics T G 5: 76,962,473 V245G probably damaging Het
Pank1 A G 19: 34,840,855 F95L probably damaging Het
Pde4dip A C 3: 97,767,100 C167G probably damaging Het
Picalm C A 7: 90,191,749 T542K possibly damaging Het
Piezo1 A G 8: 122,498,215 Y651H probably damaging Het
Pikfyve T A 1: 65,250,194 C1208* probably null Het
Pkd1l1 T A 11: 8,902,582 T634S probably benign Het
Rab32 T C 10: 10,546,427 T183A probably benign Het
Rad18 T C 6: 112,644,622 I206V possibly damaging Het
Rbm15b T C 9: 106,885,776 I398V probably benign Het
Rbm28 T C 6: 29,159,726 E101G probably benign Het
Rsf1 T C 7: 97,661,227 L388P probably damaging Het
Scnn1g A G 7: 121,740,365 Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 C330Y probably benign Het
Spock1 A T 13: 57,587,673 V101E probably damaging Het
Sympk T A 7: 19,053,273 W1029R probably damaging Het
Syne2 T A 12: 75,945,376 H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 Y199N probably damaging Het
Trim10 T A 17: 36,877,336 C481* probably null Het
Vmn2r102 A G 17: 19,677,908 E395G probably damaging Het
Wfs1 A C 5: 36,967,669 V626G possibly damaging Het
Zfp689 A G 7: 127,445,021 S146P possibly damaging Het
Zfp786 T C 6: 47,819,841 H721R 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
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
Posted On2015-12-18