Mutagenetix > Incidental Mutations

Incidental Mutation 'R4948:Ldha'

383577

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

042545-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4948 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46841475-46855627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46847381 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 19 (H19L)

Ref Sequence

ENSEMBL: ENSMUSP00000148107 (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

SMART Domains

Protein: ENSMUSP00000103267
Gene: ENSMUSG00000063229

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

SMART Domains

Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229

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

SMART Domains

Protein: ENSMUSP00000097661
Gene: ENSMUSG00000063229

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

noncoding transcript
Transcript: ENSMUST00000124696

Predicted Effect

probably benign
Transcript: ENSMUST00000125862

Predicted Effect

probably benign
Transcript: ENSMUST00000132157

Predicted Effect

probably benign
Transcript: ENSMUST00000133062

Predicted Effect

probably benign
Transcript: ENSMUST00000147535

SMART Domains

Protein: ENSMUSP00000123356
Gene: ENSMUSG00000063229

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: ENSMUST00000209548

Predicted Effect

probably benign
Transcript: ENSMUST00000209984
AA Change: H19L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210198

Predicted Effect

probably benign
Transcript: ENSMUST00000210467

Predicted Effect

probably benign
Transcript: ENSMUST00000210631

Predicted Effect

probably benign
Transcript: ENSMUST00000210815

Predicted Effect

probably benign
Transcript: ENSMUST00000210968

Meta Mutation Damage Score

0.0838

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.3%
20x: 92.2%

Validation Efficiency

94% (103/109)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	T	16: 17,118,290		probably null	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Alas1	A	T	9: 106,246,878	L27*	probably null	Het
Aldh1a7	A	G	19: 20,727,010	V40A	possibly damaging	Het
Appbp2	A	T	11: 85,194,583	I499K	possibly damaging	Het
B3gnt5	A	C	16: 19,769,144	M38L	probably benign	Het
Brd8	A	G	18: 34,614,532	V92A	probably damaging	Het
Btla	A	T	16: 45,242,728	E151D	probably benign	Het
C87499	A	T	4: 88,628,948	L162H	probably damaging	Het
Cd79b	T	A	11: 106,312,861	T67S	probably benign	Het
Cep192	A	G	18: 67,816,804	R320G	probably benign	Het
Chad	A	C	11: 94,565,702	D202A	probably damaging	Het
Chil6	A	G	3: 106,388,672		probably benign	Het
Cpz	T	C	5: 35,517,404	E167G	possibly damaging	Het
Crisp2	T	G	17: 40,765,268	H225P	probably damaging	Het
Cyp2c23	T	C	19: 44,021,699	Y69C	possibly damaging	Het
Dcp1a	T	A	14: 30,479,767	L49H	probably damaging	Het
Dnah6	T	A	6: 73,053,689	H3380L	probably benign	Het
Dnm2	A	G	9: 21,504,533	D721G	possibly damaging	Het
Dnpep	G	T	1: 75,316,760	T15K	probably benign	Het
Dock3	A	T	9: 106,991,155	D643E	probably damaging	Het
Ear6	C	T	14: 51,854,116	T40I	possibly damaging	Het
Fancm	A	G	12: 65,090,974	D313G	probably damaging	Het
Fbxw16	T	A	9: 109,438,347	E272V	probably damaging	Het
Frmd4b	T	A	6: 97,306,730	E393D	probably benign	Het
Fryl	T	A	5: 73,089,130	M1100L	probably benign	Het
Gjc1	T	C	11: 102,800,421	H252R	probably damaging	Het
Gm10518	T	C	1: 179,803,912		probably benign	Het
Gna14	A	G	19: 16,603,292	M165V	probably benign	Het
Hells	C	A	19: 38,935,522	Q72K	probably damaging	Het
Herc1	A	G	9: 66,484,902	I4031V	probably benign	Het
Hspa2	C	T	12: 76,405,987	A485V	probably damaging	Het
Ighv1-54	T	A	12: 115,193,818	I70F	probably benign	Het
Il20rb	A	T	9: 100,461,539		probably benign	Het
Krt1	C	A	15: 101,845,941	V625L	unknown	Het
Lamc3	T	C	2: 31,940,736	I1495T	probably benign	Het
Larp6	A	G	9: 60,737,780	E401G	possibly damaging	Het
Lrba	A	G	3: 86,285,028	N83S	probably damaging	Het
Lrp4	G	T	2: 91,485,886	R783L	probably benign	Het
Lrrk2	T	G	15: 91,803,389	I2227S	probably benign	Het
Lvrn	T	C	18: 46,880,736	L495P	probably damaging	Het
Macf1	T	C	4: 123,497,755	N1077S	probably damaging	Het
Mboat1	A	G	13: 30,241,230	T425A	probably damaging	Het
Mcam	A	G	9: 44,136,566	E36G	probably damaging	Het
Meis1	T	A	11: 19,016,308	T22S	probably benign	Het
Micu1	A	G	10: 59,863,254	K451R	possibly damaging	Het
Mrvi1	A	G	7: 110,888,029	V498A	probably damaging	Het
Nat8	A	T	6: 85,830,523	D209E	probably benign	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nmral1	G	A	16: 4,716,410	R56*	probably null	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1002	T	C	2: 85,647,572	I250V	probably benign	Het
Olfr1408	A	G	1: 173,130,959	V86A	probably benign	Het
Olfr1451	A	T	19: 12,999,831	T282S	probably benign	Het
Olfr192	G	A	16: 59,098,977	T5I	probably damaging	Het
Palm3	A	T	8: 84,027,079	R132*	probably null	Het
Pax2	A	G	19: 44,816,040	Y272C	probably damaging	Het
Phc2	G	A	4: 128,723,115	A394T	probably benign	Het
Phf2	C	A	13: 48,807,722	G831C	unknown	Het
Pik3c2b	G	A	1: 133,099,715		probably null	Het
Plin2	T	A	4: 86,661,991	I178F	probably benign	Het
Prdm14	T	A	1: 13,122,631	I295F	probably damaging	Het
Psmd5	C	T	2: 34,870,783	R47H	probably benign	Het
Ptchd3	T	A	11: 121,842,516	I744K	probably damaging	Het
Ptrh1	T	A	2: 32,776,545		probably benign	Het
Rab6a	A	G	7: 100,628,420	D49G	probably damaging	Het
Radil	A	T	5: 142,485,239	D1062E	probably benign	Het
Robo2	A	G	16: 74,352,838	V34A	possibly damaging	Het
Sall3	G	A	18: 80,971,411	P1029S	probably benign	Het
Sec14l3	A	G	11: 4,068,101	D127G	possibly damaging	Het
Sel1l2	A	G	2: 140,244,166	Y502H	probably damaging	Het
Serpina1f	A	G	12: 103,689,751	V406A	probably damaging	Het
Sf3b3	T	C	8: 110,813,669	D1040G	probably damaging	Het
Sgcd	A	G	11: 46,979,435	I233T	possibly damaging	Het
Slc15a3	A	G	19: 10,843,046	Q9R	probably benign	Het
Slc25a46	A	G	18: 31,583,283	F389L	probably damaging	Het
Slc26a2	G	T	18: 61,198,258	C700*	probably null	Het
Slc4a7	A	G	14: 14,771,283	Y671C	possibly damaging	Het
Slc5a10	A	T	11: 61,719,882	I22N	probably damaging	Het
Slc5a9	C	A	4: 111,891,744		probably null	Het
Slc6a12	A	G	6: 121,355,322	D205G	probably benign	Het
Tas2r115	G	A	6: 132,737,161	H276Y	probably damaging	Het
Tdpoz4	T	A	3: 93,797,011	I205N	probably damaging	Het
Tfeb	C	T	17: 47,785,979	T33I	probably benign	Het
Tgm3	A	G	2: 130,048,320	T668A	probably benign	Het
Tnpo3	A	G	6: 29,582,260	V201A	probably benign	Het
Tpcn1	T	A	5: 120,556,531	M158L	probably benign	Het
Trim47	A	C	11: 116,106,092	L612R	probably damaging	Het
Trmt10c	A	T	16: 56,034,075	L399*	probably null	Het
Trpm2	A	T	10: 77,917,792	S1293T	probably benign	Het
Ttn	C	T	2: 76,752,597	V22651I	probably damaging	Het
Tubgcp5	A	G	7: 55,806,123	I300V	probably benign	Het
Uty	T	A	Y: 1,136,883	Q844L	probably damaging	Het
Vmn2r85	C	T	10: 130,419,121	E565K	probably damaging	Het
Vmn2r97	T	C	17: 18,947,299	V605A	possibly damaging	Het
Vwa3a	T	C	7: 120,776,264	V399A	probably damaging	Het
Wdr63	T	A	3: 146,083,065	K254*	probably null	Het
Wnk4	G	A	11: 101,268,281	R508Q	probably damaging	Het
Zfp217	A	G	2: 170,119,210	V399A	probably damaging	Het
Zfp616	T	A	11: 74,084,004	N457K	possibly damaging	Het

Other mutations in Ldha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CACCTTGTGGCCGTTATTGG -3'
(R):5'- CTGCCCAAGGTATACTCACC -3'

Sequencing Primer
(F):5'- TTTGGTACTTCCTGGAGCAAC -3'
(R):5'- GGTATACTCACCAAGTCCCTG -3'

Posted On

2016-04-27