Mutagenetix > Incidental Mutation

Incidental Mutation 'R8155:Ldha'

633259

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

067581-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8155 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46491698-46505051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46503508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 300 (H300R)

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 damaging
Transcript: ENSMUST00000005051
AA Change: H271R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103267
Gene: ENSMUSG00000063229
AA Change: H271R

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 damaging
Transcript: ENSMUST00000048209
AA Change: H271R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229
AA Change: H271R

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

probably benign
Transcript: ENSMUST00000132157

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 damaging
Transcript: ENSMUST00000209984
AA Change: H300R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000210467

Predicted Effect

probably benign
Transcript: ENSMUST00000210631

Predicted Effect

probably damaging
Transcript: ENSMUST00000210815
AA Change: H254R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210968

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,330,497 (GRCm39)	T1386I	probably damaging	Het
Abcb6	A	T	1: 75,151,413 (GRCm39)	V504E	probably damaging	Het
Abtb3	G	A	10: 85,476,473 (GRCm39)		probably null	Het
Adprhl1	C	T	8: 13,271,764 (GRCm39)	A1665T	probably damaging	Het
Arhgap32	T	A	9: 32,093,196 (GRCm39)	L183H	probably damaging	Het
Arhgef12	A	G	9: 42,953,958 (GRCm39)	L24S	probably damaging	Het
B3gnt4	C	T	5: 123,649,426 (GRCm39)	H264Y	possibly damaging	Het
Cfi	A	G	3: 129,648,739 (GRCm39)	T208A	probably benign	Het
Chd4	T	A	6: 125,082,287 (GRCm39)	F605Y	probably benign	Het
Cimap1d	A	T	10: 79,481,466 (GRCm39)	V21E	probably benign	Het
Clip1	A	G	5: 123,751,699 (GRCm39)	L694P		Het
Crybb3	A	T	5: 113,225,466 (GRCm39)	D135E	probably damaging	Het
Ddx60	T	A	8: 62,470,205 (GRCm39)	S1398T	possibly damaging	Het
Dusp5	T	A	19: 53,529,537 (GRCm39)	Y313*	probably null	Het
Eloa	A	G	4: 135,734,438 (GRCm39)	V689A	probably benign	Het
Ep300	T	A	15: 81,505,269 (GRCm39)	Y630N	unknown	Het
Galnt5	A	T	2: 57,889,427 (GRCm39)	K342N	probably benign	Het
Gm4841	A	G	18: 60,403,409 (GRCm39)	V228A	probably damaging	Het
Gna14	A	T	19: 16,576,338 (GRCm39)	D115V	probably benign	Het
Gpx5	T	C	13: 21,472,917 (GRCm39)	D139G	probably damaging	Het
Hmcn1	G	T	1: 150,480,705 (GRCm39)	N4490K	probably damaging	Het
Hsp90aa1	T	C	12: 110,661,828 (GRCm39)	S63G	unknown	Het
Itpkb	T	C	1: 180,159,913 (GRCm39)	I13T	possibly damaging	Het
Itprid2	T	C	2: 79,475,177 (GRCm39)	S379P	probably benign	Het
Lamb2	C	T	9: 108,357,845 (GRCm39)	R123W	probably damaging	Het
Lrp2	A	G	2: 69,313,342 (GRCm39)	L2463P	possibly damaging	Het
Morf4l1	A	G	9: 89,977,225 (GRCm39)	I232T	probably damaging	Het
Mtg1	A	G	7: 139,724,622 (GRCm39)	H166R	probably benign	Het
Or14a260	A	G	7: 85,985,386 (GRCm39)	S73P	probably damaging	Het
Or2ad1	A	G	13: 21,327,062 (GRCm39)	L55P	probably damaging	Het
Or52r1	C	T	7: 102,536,452 (GRCm39)	D303N	probably benign	Het
Or5d46	A	G	2: 88,170,296 (GRCm39)	N129S	probably damaging	Het
Or6d12	T	A	6: 116,492,813 (GRCm39)	V25E	probably benign	Het
Or7g32	A	T	9: 19,389,453 (GRCm39)	V31D	probably benign	Het
Papss2	A	G	19: 32,618,742 (GRCm39)	T267A	probably benign	Het
Park7	G	A	4: 150,991,547 (GRCm39)	R48C	possibly damaging	Het
Pecr	A	G	1: 72,309,443 (GRCm39)	V199A	probably damaging	Het
Pla2g10	G	A	16: 13,543,048 (GRCm39)	R80W	probably damaging	Het
Plek2	G	A	12: 78,943,066 (GRCm39)	R77*	probably null	Het
Psg23	A	G	7: 18,346,179 (GRCm39)	L172P	probably damaging	Het
Psg25	A	C	7: 18,260,445 (GRCm39)	F151C	probably benign	Het
Ptpn3	G	T	4: 57,232,336 (GRCm39)	H433Q	probably benign	Het
Rasal3	A	G	17: 32,616,381 (GRCm39)	V294A	possibly damaging	Het
Rnf6	T	C	5: 146,147,815 (GRCm39)	D401G	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sema3d	T	C	5: 12,498,148 (GRCm39)		probably null	Het
Serpinb1c	A	T	13: 33,081,038 (GRCm39)	L15Q	probably damaging	Het
Slfn3	T	A	11: 83,103,611 (GRCm39)	Y161N	probably damaging	Het
Spns2	T	C	11: 72,347,394 (GRCm39)	M404V	possibly damaging	Het
Stk39	T	A	2: 68,097,410 (GRCm39)	I479L	probably damaging	Het
Tbx15	C	A	3: 99,259,886 (GRCm39)	Q586K	possibly damaging	Het
Thap11	C	T	8: 106,582,854 (GRCm39)	R288*	probably null	Het
Tm7sf2	T	A	19: 6,114,125 (GRCm39)	D236V	probably damaging	Het
Tmem214	T	C	5: 31,029,136 (GRCm39)	S192P	possibly damaging	Het
Tnfaip3	A	G	10: 18,880,439 (GRCm39)	S543P	possibly damaging	Het
Traf3ip3	A	G	1: 192,860,524 (GRCm39)	L466P	probably damaging	Het
Tspan18	C	T	2: 93,040,357 (GRCm39)		probably null	Het
Vmn1r229	T	A	17: 21,035,472 (GRCm39)	L239Q	probably damaging	Het
Vsig2	T	C	9: 37,455,329 (GRCm39)	V293A	possibly damaging	Het
Wdfy4	A	T	14: 32,884,776 (GRCm39)	V42D		Het
Wnk2	G	A	13: 49,192,577 (GRCm39)	P2055S	unknown	Het
Zfp953	C	A	13: 67,491,535 (GRCm39)	C139F	probably damaging	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
R7232:Ldha	UTSW	7	46,500,323 (GRCm39)	missense	probably benign	0.31
R7660:Ldha	UTSW	7	46,499,681 (GRCm39)	missense	unknown
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'- ATTCTAGTCCACCAGGGGTCAG -3'
(R):5'- CTGTGTTCCAAAAGAAAAGCGTG -3'

Sequencing Primer
(F):5'- CACCAGGGGTCAGACGTTTTTG -3'
(R):5'- GAGCCGATCGATGCATTTAC -3'

Posted On

2020-06-30