Mutagenetix > Incidental Mutation

Incidental Mutation 'R7232:Ldha'

562553

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

045303-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46491698-46505051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46500323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 174 (Y174H)

Ref Sequence

ENSEMBL: ENSMUSP00000148107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005051] [ENSMUST00000048209] [ENSMUST00000092621] [ENSMUST00000125862] [ENSMUST00000132157] [ENSMUST00000133062] [ENSMUST00000147535] [ENSMUST00000209984] [ENSMUST00000209548] [ENSMUST00000210467] [ENSMUST00000210631] [ENSMUST00000210815] [ENSMUST00000210968]

AlphaFold

P06151

Predicted Effect

probably benign
Transcript: ENSMUST00000005051
AA Change: Y145H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103267
Gene: ENSMUSG00000063229
AA Change: Y145H

Domain	Start	End	E-Value	Type
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: Y145H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229
AA Change: Y145H

Domain	Start	End	E-Value	Type
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: Y145H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097661
Gene: ENSMUSG00000063229
AA Change: Y145H

Domain	Start	End	E-Value	Type
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: ENSMUST00000132157
AA Change: Y145H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000133062

Predicted Effect

probably benign
Transcript: ENSMUST00000147535
AA Change: Y145H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123356
Gene: ENSMUSG00000063229
AA Change: Y145H

Domain	Start	End	E-Value	Type
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: ENSMUST00000209984
AA Change: Y174H

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000209548
AA Change: Y145H

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000210467

Predicted Effect

unknown
Transcript: ENSMUST00000210631
AA Change: L136P

Predicted Effect

probably benign
Transcript: ENSMUST00000210815
AA Change: Y128H

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000210968

Meta Mutation Damage Score

0.7449

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	G	A	7: 40,642,603 (GRCm39)	G91S	probably damaging	Het
Adam21	T	G	12: 81,607,330 (GRCm39)	N144T	probably damaging	Het
Adgrg7	T	C	16: 56,597,515 (GRCm39)		probably null	Het
Angpt4	T	C	2: 151,771,460 (GRCm39)	S259P	possibly damaging	Het
Aqr	A	C	2: 113,936,363 (GRCm39)	L1320R	probably damaging	Het
Arhgef10	G	A	8: 14,990,323 (GRCm39)	G266D	probably benign	Het
Bop1	A	G	15: 76,337,546 (GRCm39)	V693A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,738,863 (GRCm39)		probably null	Het
Cfap46	C	A	7: 139,197,493 (GRCm39)	R2126L	unknown	Het
Chek2	T	C	5: 111,008,781 (GRCm39)	V304A	probably damaging	Het
Cntnap4	T	A	8: 113,391,731 (GRCm39)		probably null	Het
Ctps1	C	A	4: 120,405,321 (GRCm39)	G374C	probably damaging	Het
Defa27	A	T	8: 21,805,625 (GRCm39)	I22F	probably damaging	Het
Dnah14	T	C	1: 181,584,928 (GRCm39)	S3220P	probably damaging	Het
Dop1b	T	G	16: 93,557,373 (GRCm39)		probably null	Het
Dpysl5	G	A	5: 30,949,642 (GRCm39)	V471I	probably benign	Het
Duoxa1	T	A	2: 122,135,728 (GRCm39)	I124F	probably damaging	Het
Eif4enif1	A	G	11: 3,165,678 (GRCm39)	E85G	possibly damaging	Het
Eogt	T	A	6: 97,096,944 (GRCm39)	I355F	probably damaging	Het
Epha7	T	A	4: 28,951,279 (GRCm39)	V800E	probably damaging	Het
Evi5l	A	G	8: 4,255,906 (GRCm39)	Q633R	possibly damaging	Het
Fam170a	T	C	18: 50,414,728 (GRCm39)	Y125H	probably damaging	Het
Fbxo15	T	C	18: 84,980,747 (GRCm39)	Y241H	probably damaging	Het
Gbe1	T	C	16: 70,233,828 (GRCm39)	I235T	possibly damaging	Het
Gfra3	C	T	18: 34,844,234 (GRCm39)	R102Q	probably damaging	Het
Gjd4	C	T	18: 9,280,380 (GRCm39)	G233S	probably damaging	Het
Gm29106	C	T	1: 118,127,291 (GRCm39)	P328S	probably damaging	Het
Hgfac	G	T	5: 35,204,258 (GRCm39)	R507L	probably damaging	Het
Jakmip3	A	G	7: 138,609,355 (GRCm39)	K153R	probably benign	Het
Kcnc1	T	A	7: 46,077,383 (GRCm39)	V395E	probably damaging	Het
Krt6b	T	C	15: 101,586,577 (GRCm39)	D304G	probably damaging	Het
Lgi4	G	A	7: 30,766,776 (GRCm39)	V268M	possibly damaging	Het
Lpar3	T	G	3: 145,947,061 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,905,477 (GRCm39)	D103G	probably damaging	Het
Marchf5	G	A	19: 37,194,713 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,419,866 (GRCm39)	H4115L	possibly damaging	Het
Myh13	G	A	11: 67,239,672 (GRCm39)	D741N	probably damaging	Het
Naglu	A	T	11: 100,967,252 (GRCm39)	I401F	probably damaging	Het
Ncam2	T	A	16: 81,309,759 (GRCm39)	N416K	probably damaging	Het
Ncan	A	G	8: 70,564,738 (GRCm39)	L292S	probably damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	A	T	19: 5,553,659 (GRCm39)	S41T	possibly damaging	Het
Onecut2	T	A	18: 64,474,633 (GRCm39)	W395R	probably damaging	Het
Or10a2	T	A	7: 106,673,062 (GRCm39)	I9K	probably benign	Het
Pak6	T	A	2: 118,524,003 (GRCm39)	V386E	probably damaging	Het
Pias2	A	G	18: 77,220,931 (GRCm39)	S396G	probably benign	Het
Plxna2	T	A	1: 194,394,568 (GRCm39)	L483H	probably damaging	Het
Prss36	G	T	7: 127,534,763 (GRCm39)	R484S	probably benign	Het
Ptpn21	A	T	12: 98,654,996 (GRCm39)	V657E	probably benign	Het
Rassf2	T	C	2: 131,838,332 (GRCm39)	E318G	probably damaging	Het
Rp1	A	C	1: 4,298,824 (GRCm39)	S623A	unknown	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn11a	T	A	9: 119,588,982 (GRCm39)	E1308V	probably damaging	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Slit3	A	G	11: 35,501,516 (GRCm39)	T417A	possibly damaging	Het
Sostdc1	C	A	12: 36,367,310 (GRCm39)	A162E	possibly damaging	Het
Sox13	A	T	1: 133,312,129 (GRCm39)		probably null	Het
Sox8	G	T	17: 25,786,514 (GRCm39)	S396R	probably benign	Het
Sult2a3	A	T	7: 13,816,685 (GRCm39)	F164L	possibly damaging	Het
Susd2	T	C	10: 75,475,685 (GRCm39)	Y438C	probably damaging	Het
Tas2r106	T	G	6: 131,655,810 (GRCm39)	T14P	probably damaging	Het
Tcf25	T	A	8: 124,127,800 (GRCm39)		probably null	Het
Tenm3	G	A	8: 48,688,970 (GRCm39)	R2206W	probably damaging	Het
Tep1	A	G	14: 51,081,789 (GRCm39)	L471P	unknown	Het
Ticrr	A	T	7: 79,343,490 (GRCm39)	K1118N	probably damaging	Het
Tlr5	G	A	1: 182,801,064 (GRCm39)	E123K	probably benign	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,770 (GRCm39)	V141A	probably benign	Het
Unc79	T	A	12: 103,100,734 (GRCm39)	S2050T	possibly damaging	Het
Usp13	A	G	3: 32,920,020 (GRCm39)	D235G	probably benign	Het
Vcam1	T	C	3: 115,919,628 (GRCm39)	T213A	possibly damaging	Het
Vmn2r60	T	A	7: 41,786,166 (GRCm39)	I323N	possibly damaging	Het
Vps13b	A	G	15: 35,877,703 (GRCm39)	I2892M	probably damaging	Het
Wnt5a	T	A	14: 28,240,329 (GRCm39)	S160T	probably benign	Het
Zar1	G	A	5: 72,738,294 (GRCm39)	P36L	possibly damaging	Het
Zfp773	A	T	7: 7,135,984 (GRCm39)	M204K	probably benign	Het
Zhx1	T	C	15: 57,916,465 (GRCm39)	T594A	probably benign	Het

Other mutations in Ldha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9775:Ldha	UTSW	7	46,491,047 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTCTGAATGTAGTTGCAAAGTTTAG -3'
(R):5'- AAAGACTTACCACTGGAGTCG -3'

Sequencing Primer
(F):5'- TTTGATCCCAGCACTCAGGAG -3'
(R):5'- GAGTCGCCATGTTCTCCCAG -3'

Posted On

2019-06-26