Mutagenetix > Incidental Mutation

Incidental Mutation 'R1302:Ldha'

158422

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

039368-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1302 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

46491698-46505051 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 46497063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 7 (Q7P)

Ref Sequence

ENSEMBL: ENSMUSP00000147825 (fasta)

Gene Model

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

AlphaFold

P06151

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005051
AA Change: Q7P

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103267
Gene: ENSMUSG00000063229
AA Change: Q7P

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: Q7P

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229
AA Change: Q7P

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: Q7P

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000097661
Gene: ENSMUSG00000063229
AA Change: Q7P

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

possibly damaging
Transcript: ENSMUST00000125862
AA Change: Q7P

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000132157
AA Change: Q7P

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133062
AA Change: Q7P

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209984
AA Change: Q36P

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210968
AA Change: Q7P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209548
AA Change: Q7P

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210631
AA Change: Q7P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210815
AA Change: Q7P

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210467
AA Change: Q7P

PolyPhen 2 Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147535
AA Change: Q7P

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123356
Gene: ENSMUSG00000063229
AA Change: Q7P

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

noncoding transcript
Transcript: ENSMUST00000210198

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.2%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	A	T	8: 125,566,607 (GRCm39)	I271N	probably damaging	Het
5031439G07Rik	A	G	15: 84,837,477 (GRCm39)	Y279H	probably damaging	Het
Abcg2	T	A	6: 58,662,802 (GRCm39)	M548K	probably damaging	Het
Acat1	T	C	9: 53,500,525 (GRCm39)	D257G	possibly damaging	Het
Adamts4	G	A	1: 171,080,752 (GRCm39)	G360R	probably damaging	Het
Akr1c12	T	C	13: 4,322,328 (GRCm39)	D238G	probably damaging	Het
Ankrd1	C	T	19: 36,092,403 (GRCm39)	G275S	probably damaging	Het
Ascc3	T	A	10: 50,480,890 (GRCm39)	M1K	probably null	Het
Atf7ip2	T	C	16: 10,058,472 (GRCm39)	S304P	possibly damaging	Het
Casp4	T	A	9: 5,328,518 (GRCm39)	C333*	probably null	Het
Ccdc68	G	A	18: 70,072,033 (GRCm39)	V37M	probably damaging	Het
Cda	T	A	4: 138,078,502 (GRCm39)	I87F	probably damaging	Het
Chst1	A	T	2: 92,443,864 (GRCm39)	D112V	probably damaging	Het
Chtf18	T	C	17: 25,938,132 (GRCm39)	D967G	probably damaging	Het
Col5a1	A	G	2: 27,895,248 (GRCm39)	R1106G	probably damaging	Het
Coro1b	T	G	19: 4,199,376 (GRCm39)	F12V	probably damaging	Het
Ctif	G	T	18: 75,654,749 (GRCm39)	P259Q	probably benign	Het
Duox1	A	T	2: 122,177,760 (GRCm39)	I1515F	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Flt1	A	G	5: 147,501,050 (GRCm39)	Y1328H	possibly damaging	Het
Frem2	T	C	3: 53,562,959 (GRCm39)	D516G	probably benign	Het
Gin1	A	T	1: 97,703,314 (GRCm39)	K46*	probably null	Het
Gle1	C	G	2: 29,842,564 (GRCm39)		probably null	Het
Gm11146	T	G	16: 77,398,970 (GRCm39)	I5L	unknown	Het
Gpr153	C	T	4: 152,364,400 (GRCm39)	T152M	probably damaging	Het
H1f8	A	T	6: 115,924,610 (GRCm39)	R39*	probably null	Het
Hdlbp	A	T	1: 93,351,107 (GRCm39)		probably null	Het
Ifi207	A	T	1: 173,562,861 (GRCm39)	L95Q	possibly damaging	Het
Ikzf3	G	T	11: 98,407,746 (GRCm39)	P32T	probably benign	Het
Ints10	T	A	8: 69,279,964 (GRCm39)	V697E	probably damaging	Het
Krt14	A	G	11: 100,094,173 (GRCm39)	S474P	probably damaging	Het
L3mbtl3	T	A	10: 26,203,667 (GRCm39)	I388F	unknown	Het
Lrwd1	A	G	5: 136,161,267 (GRCm39)	S232P	probably benign	Het
Med1	G	T	11: 98,048,275 (GRCm39)	D840E	possibly damaging	Het
Med23	T	A	10: 24,764,320 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,099 (GRCm39)	P1046S	possibly damaging	Het
Ndufa4l2	A	T	10: 127,351,301 (GRCm39)	M31L	probably benign	Het
Nlrp4f	A	G	13: 65,342,371 (GRCm39)	S425P	possibly damaging	Het
Nova1	A	T	12: 46,767,581 (GRCm39)	H113Q	unknown	Het
Npc1	T	C	18: 12,328,142 (GRCm39)	K1056E	probably benign	Het
Nrbp1	A	G	5: 31,407,233 (GRCm39)	H354R	probably benign	Het
Ogfod3	A	G	11: 121,074,300 (GRCm39)	F250L	probably damaging	Het
Pclo	A	G	5: 14,731,647 (GRCm39)	D3383G	unknown	Het
Pde1b	T	A	15: 103,436,026 (GRCm39)	D457E	probably benign	Het
Pkd1	C	G	17: 24,787,210 (GRCm39)	S581R	probably benign	Het
Pno1	T	A	11: 17,154,545 (GRCm39)	Q212L	probably benign	Het
Polr3b	C	T	10: 84,468,350 (GRCm39)	P112L	probably damaging	Het
Pomk	T	A	8: 26,473,102 (GRCm39)	I284F	probably damaging	Het
Rapgef4	A	T	2: 71,875,504 (GRCm39)	D119V	probably benign	Het
Rprm	A	T	2: 53,975,165 (GRCm39)	L51Q	probably benign	Het
Spata31e5	A	T	1: 28,815,421 (GRCm39)	D870E	probably benign	Het
Taok3	A	C	5: 117,337,108 (GRCm39)	S58R	possibly damaging	Het
Tmprss9	T	A	10: 80,730,963 (GRCm39)	S830T	probably benign	Het
Tnfrsf1a	G	A	6: 125,333,879 (GRCm39)	C44Y	probably damaging	Het
Ubr5	A	T	15: 38,041,723 (GRCm39)	D235E	possibly damaging	Het
Vapb	C	A	2: 173,613,330 (GRCm39)	F76L	possibly damaging	Het
Vmn2r72	T	C	7: 85,387,465 (GRCm39)	I700V	probably damaging	Het
Wwc1	G	A	11: 35,734,984 (GRCm39)	R964W	probably damaging	Het
Zfp644	A	T	5: 106,782,765 (GRCm39)	V1203D	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
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
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'- TTCAAGGTGAGAGCCTTCCTGGTG -3'
(R):5'- ACAGATGACTGAGTGTGTGCAAACC -3'

Sequencing Primer
(F):5'- TTCCTGGTGAGAGCCAGAC -3'
(R):5'- CTGAGTGTGTGCAAACCTTGATAG -3'

Posted On

2014-02-18