Mutagenetix > Incidental Mutation

Incidental Mutation 'R5413:Ldha'

427590

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

042982-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46491698-46505051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46500320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 144 (T144A)

Ref Sequence

ENSEMBL: ENSMUSP00000148190 (fasta)

Gene Model

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

AlphaFold

P06151

Predicted Effect

probably benign
Transcript: ENSMUST00000005051
AA Change: T144A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000103267
Gene: ENSMUSG00000063229
AA Change: T144A

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: T144A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229
AA Change: T144A

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: T144A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097661
Gene: ENSMUSG00000063229
AA Change: T144A

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

possibly damaging
Transcript: ENSMUST00000132157
AA Change: T144A

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000133062

Predicted Effect

probably benign
Transcript: ENSMUST00000147535
AA Change: T144A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000123356
Gene: ENSMUSG00000063229
AA Change: T144A

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

unknown
Transcript: ENSMUST00000210631
AA Change: D135G

Predicted Effect

probably benign
Transcript: ENSMUST00000209548
AA Change: T144A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209984
AA Change: T173A

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000210815
AA Change: T127A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210198

Predicted Effect

probably benign
Transcript: ENSMUST00000210968

Predicted Effect

probably benign
Transcript: ENSMUST00000210467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,911,204 (GRCm39)	T410S	possibly damaging	Het
Adamts3	A	G	5: 89,856,626 (GRCm39)	S316P	probably damaging	Het
Angptl3	A	T	4: 98,919,259 (GRCm39)	L6F	probably benign	Het
Clint1	T	C	11: 45,777,307 (GRCm39)	V98A	probably damaging	Het
Clk2	A	G	3: 89,080,785 (GRCm39)	N258S	probably benign	Het
Col18a1	T	C	10: 76,905,310 (GRCm39)	D723G	probably damaging	Het
Csmd3	A	T	15: 47,701,831 (GRCm39)	W1751R	probably damaging	Het
Daam1	C	A	12: 71,993,066 (GRCm39)	L352M	unknown	Het
Dennd2a	A	T	6: 39,441,227 (GRCm39)	F964I	probably damaging	Het
Dock5	A	G	14: 68,002,104 (GRCm39)	L1622P	probably damaging	Het
Dpy19l4	A	G	4: 11,289,700 (GRCm39)	L195P	probably damaging	Het
Esp24	A	C	17: 39,350,893 (GRCm39)	E31A	possibly damaging	Het
Fars2	T	A	13: 36,388,545 (GRCm39)	Y11*	probably null	Het
Fbxl16	C	A	17: 26,035,817 (GRCm39)	T138K	possibly damaging	Het
Frmpd1	A	G	4: 45,249,196 (GRCm39)	I129V	probably benign	Het
Gria1	A	G	11: 57,108,620 (GRCm39)	N241S	probably benign	Het
Homer1	A	G	13: 93,528,287 (GRCm39)	E274G	probably benign	Het
Igdcc3	T	C	9: 65,084,797 (GRCm39)	V189A	possibly damaging	Het
Igkv12-98	A	G	6: 68,548,078 (GRCm39)	Y68C	possibly damaging	Het
Igkv3-3	G	C	6: 70,664,414 (GRCm39)	R85S	probably damaging	Het
Lrp1	A	G	10: 127,423,936 (GRCm39)		probably null	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Or14c44	A	G	7: 86,061,675 (GRCm39)	Y35C	probably benign	Het
Or2n1d	G	T	17: 38,646,515 (GRCm39)	A156S	probably benign	Het
Or2y1b	A	T	11: 49,209,240 (GRCm39)	Y289F	probably damaging	Het
Or6b13	A	T	7: 139,782,635 (GRCm39)	V16E	possibly damaging	Het
Osbp	T	C	19: 11,961,855 (GRCm39)	Y551H	probably damaging	Het
Paf1	T	C	7: 28,096,040 (GRCm39)	M249T	possibly damaging	Het
Pcsk2	T	C	2: 143,538,620 (GRCm39)		probably null	Het
Piwil1	G	A	5: 128,820,944 (GRCm39)	V290I	possibly damaging	Het
Prmt9	A	T	8: 78,298,638 (GRCm39)	D444V	possibly damaging	Het
Rapgef2	T	C	3: 78,995,173 (GRCm39)	D677G	probably damaging	Het
Tmem59	A	G	4: 107,057,659 (GRCm39)	E237G	probably benign	Het
Trpm5	A	T	7: 142,634,705 (GRCm39)	I664N	probably damaging	Het
Unc13b	G	A	4: 43,257,936 (GRCm39)		probably null	Het
Usp17lc	C	A	7: 103,067,763 (GRCm39)	Q353K	probably benign	Het
Uvssa	G	A	5: 33,568,252 (GRCm39)	V547M	probably damaging	Het
Vdac1	G	T	11: 52,265,794 (GRCm39)	L52F	probably null	Het
Vmn2r14	T	A	5: 109,369,154 (GRCm39)	I140L	probably benign	Het
Wnt3a	A	G	11: 59,166,182 (GRCm39)	S33P	probably benign	Het
Wwp2	T	A	8: 108,281,710 (GRCm39)	Y300N	probably damaging	Het
Zwilch	T	A	9: 64,075,892 (GRCm39)		probably null	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
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
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'- AAGACTTACCACTGGAGTCGCC -3'

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

Posted On

2016-09-01