Mutagenetix > Incidental Mutation

Incidental Mutation 'R5543:Ldha'

436098

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

043101-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5543 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46491698-46505051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46500314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 171 (I171F)

Ref Sequence

ENSEMBL: ENSMUSP00000148107 (fasta)

Gene Model

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

AlphaFold

P06151

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005051
AA Change: I142F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103267
Gene: ENSMUSG00000063229
AA Change: I142F

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

possibly damaging
Transcript: ENSMUST00000048209
AA Change: I142F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229
AA Change: I142F

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

possibly damaging
Transcript: ENSMUST00000092621
AA Change: I142F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097661
Gene: ENSMUSG00000063229
AA Change: I142F

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
AA Change: I142F

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000133062

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147535
AA Change: I142F

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123356
Gene: ENSMUSG00000063229
AA Change: I142F

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

possibly damaging
Transcript: ENSMUST00000210815
AA Change: I125F

PolyPhen 2 Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209984
AA Change: I171F

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209548
AA Change: I142F

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

unknown
Transcript: ENSMUST00000210631
AA Change: Y133F

Predicted Effect

probably benign
Transcript: ENSMUST00000210968

Predicted Effect

probably benign
Transcript: ENSMUST00000210467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210198

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	C	A	7: 127,836,353 (GRCm39)	S80I	probably benign	Het
Aak1	T	C	6: 86,959,627 (GRCm39)		probably null	Het
Abcc6	A	G	7: 45,638,960 (GRCm39)		probably null	Het
Acvr1	A	G	2: 58,353,157 (GRCm39)	S268P	probably damaging	Het
Apod	T	C	16: 31,122,351 (GRCm39)		probably null	Het
Atp5po	T	C	16: 91,723,418 (GRCm39)	I58V	probably benign	Het
AU040320	C	T	4: 126,735,017 (GRCm39)	T777M	probably damaging	Het
Ccne2	A	T	4: 11,194,026 (GRCm39)	N89I	probably benign	Het
Cspg4b	C	A	13: 113,457,407 (GRCm39)	T1151K	probably damaging	Het
Dnah7a	A	G	1: 53,543,228 (GRCm39)	V2314A	probably damaging	Het
Dop1b	T	C	16: 93,595,808 (GRCm39)	S1881P	probably damaging	Het
E4f1	A	G	17: 24,666,336 (GRCm39)	V24A	possibly damaging	Het
Esrrg	A	T	1: 187,882,451 (GRCm39)	D236V	probably damaging	Het
Fam240b	T	A	13: 64,633,736 (GRCm39)	I27F	possibly damaging	Het
Fat1	T	A	8: 45,476,516 (GRCm39)	I1854N	probably damaging	Het
Fchsd2	T	C	7: 100,920,906 (GRCm39)	Y480H	probably damaging	Het
Fras1	A	G	5: 96,676,394 (GRCm39)	N47S	probably benign	Het
Gabrr3	T	C	16: 59,253,870 (GRCm39)	S196P	probably damaging	Het
Gbp8	T	A	5: 105,165,696 (GRCm39)	D319V	possibly damaging	Het
Hrh3	G	T	2: 179,745,763 (GRCm39)	A61E	probably damaging	Het
Idua	T	C	5: 108,818,095 (GRCm39)	I89T	probably benign	Het
Ifitm3	T	A	7: 140,589,730 (GRCm39)	I108F	unknown	Het
Izumo4	T	C	10: 80,538,668 (GRCm39)	F40S	probably damaging	Het
Kifc2	A	G	15: 76,551,242 (GRCm39)	R679G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrfn4	T	C	19: 4,662,191 (GRCm39)	S609G	probably benign	Het
Mmp15	T	C	8: 96,094,729 (GRCm39)	F201S	possibly damaging	Het
Myof	C	T	19: 37,969,778 (GRCm39)	V295I	probably benign	Het
Or1n2	C	T	2: 36,797,369 (GRCm39)	T137I	possibly damaging	Het
Or2z2	T	A	11: 58,345,993 (GRCm39)	M261L	probably damaging	Het
Or5m12	G	T	2: 85,734,672 (GRCm39)	A242D	probably damaging	Het
Parp14	T	C	16: 35,655,137 (GRCm39)	D1778G	probably benign	Het
Pcnt	A	T	10: 76,247,886 (GRCm39)	D969E	probably benign	Het
Pibf1	A	T	14: 99,350,428 (GRCm39)	N192I	probably benign	Het
Pitpnm3	A	G	11: 71,947,023 (GRCm39)	F792S	probably damaging	Het
Pkd2	T	A	5: 104,637,199 (GRCm39)	I604N	probably damaging	Het
Pla2g15	T	C	8: 106,887,775 (GRCm39)	Y188H	probably damaging	Het
Plxnc1	G	T	10: 94,700,636 (GRCm39)	D643E	probably benign	Het
Prrc2c	G	A	1: 162,501,080 (GRCm39)	P1241L	probably damaging	Het
Ptprd	T	C	4: 75,977,990 (GRCm39)	E173G	probably damaging	Het
Shank3	T	C	15: 89,416,557 (GRCm39)	V232A	probably damaging	Het
Shbg	A	G	11: 69,507,564 (GRCm39)	I171T	probably damaging	Het
Slc22a14	A	T	9: 119,002,674 (GRCm39)	F404L	probably benign	Het
Slc37a3	C	A	6: 39,331,960 (GRCm39)	G158C	probably damaging	Het
Slfn9	C	A	11: 82,873,207 (GRCm39)	L565F	probably damaging	Het
Spmip10	G	A	18: 56,727,760 (GRCm39)		probably benign	Het
Trank1	T	A	9: 111,195,180 (GRCm39)	M1068K	probably damaging	Het
Trbv15	A	T	6: 41,118,187 (GRCm39)	I15L	probably benign	Het
Ttn	C	T	2: 76,569,918 (GRCm39)	V26992M	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt2b34	T	A	5: 87,054,560 (GRCm39)	I74F	probably damaging	Het
Vamp3	A	G	4: 151,135,477 (GRCm39)	L47P	probably damaging	Het
Zfp143	T	A	7: 109,682,522 (GRCm39)	C363*	probably null	Het
Zfp438	T	C	18: 5,213,761 (GRCm39)	E399G	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
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'- CCTCTGAATGTAGTTGCAAAGTTTAGG -3'
(R):5'- AAGACTTACCACTGGAGTCGC -3'

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

Posted On

2016-10-24