Mutagenetix > Incidental Mutation

Incidental Mutation 'R7399:Ldhb'

574032

Institutional Source

Beutler Lab

Gene Symbol

Ldhb

Ensembl Gene

ENSMUSG00000030246

Gene Name

lactate dehydrogenase B

Synonyms

Ldh-2, lactate dehydrogenase-B, H-Ldh

MMRRC Submission

045481-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142490249-142507957 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142495673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 164 (C164R)

Ref Sequence

ENSEMBL: ENSMUSP00000032373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032373] [ENSMUST00000134191]

AlphaFold

P16125

Predicted Effect

probably damaging
Transcript: ENSMUST00000032373
AA Change: C164R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: C164R

Domain	Start	End	E-Value	Type
Pfam:Ldh_1_N	22	161	4.2e-51	PFAM
Pfam:Ldh_1_C	164	334	9.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130817

Predicted Effect

probably damaging
Transcript: ENSMUST00000134191
AA Change: C164R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116014
Gene: ENSMUSG00000030246
AA Change: C164R

Domain	Start	End	E-Value	Type
Pfam:Ldh_1_N	22	161	6.3e-54	PFAM
Pfam:Glyco_hydro_4	79	178	2.1e-8	PFAM
Pfam:Ldh_1_C	164	198	1.7e-7	PFAM

Predicted Effect

Meta Mutation Damage Score

0.8410

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have also been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes 1 and 19. [provided by RefSeq, Feb 2016]
PHENOTYPE: Electrophoretic variants of LDHB are determined by: the a allele with fast anodal mobility in all inbred strains tested; and the b allele with slower mobility in Peru-Coppock stock. Three additional variants are known in wild M. spretus from southern France and Spain. Alleles are codominant. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	G	11: 84,260,679 (GRCm38)	V801G	possibly damaging	Het
Actbl2	T	A	13: 111,255,593 (GRCm38)	M154K	probably benign	Het
Adam7	A	T	14: 68,504,466 (GRCm38)		probably null	Het
Arfgef1	T	A	1: 10,180,897 (GRCm38)	T888S	probably benign	Het
AW554918	C	T	18: 25,169,060 (GRCm38)	P10L	possibly damaging	Het
Bcap29	A	G	12: 31,630,882 (GRCm38)	I35T	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857 (GRCm38)	254	probably null	Het
Cby2	A	G	14: 75,592,637 (GRCm38)	S39P	probably benign	Het
Cdc25b	A	G	2: 131,194,654 (GRCm38)	D458G	probably damaging	Het
Cdc42bpb	T	C	12: 111,305,667 (GRCm38)	K1104R	probably benign	Het
Cep89	A	G	7: 35,438,378 (GRCm38)	N729S	probably damaging	Het
Clec4a4	T	A	6: 122,991,829 (GRCm38)	M51K	possibly damaging	Het
Dcdc2b	A	G	4: 129,609,629 (GRCm38)	L270P	probably damaging	Het
Dennd5b	G	T	6: 149,036,483 (GRCm38)	H639N	probably damaging	Het
Dnah11	T	C	12: 118,125,785 (GRCm38)	E1182G	probably damaging	Het
Dnah11	T	G	12: 118,027,477 (GRCm38)	T2385P	probably benign	Het
Dok7	T	C	5: 35,066,471 (GRCm38)	V81A	probably damaging	Het
Dtx1	T	A	5: 120,682,393 (GRCm38)	M494L	possibly damaging	Het
Foxj1	A	T	11: 116,332,254 (GRCm38)	L241Q	possibly damaging	Het
Gbp10	G	A	5: 105,236,149 (GRCm38)		probably benign	Het
Hnmt	T	A	2: 24,003,880 (GRCm38)	T201S	probably benign	Het
Jup	G	T	11: 100,378,351 (GRCm38)	T412K	possibly damaging	Het
Kcnh2	G	A	5: 24,322,059 (GRCm38)	S954F	probably damaging	Het
Klhdc7b	A	C	15: 89,388,644 (GRCm38)	K585T	possibly damaging	Het
Klk7	T	A	7: 43,812,000 (GRCm38)	S14T	probably benign	Het
Lama4	G	A	10: 39,047,948 (GRCm38)	E451K	probably damaging	Het
Malrd1	G	A	2: 15,610,090 (GRCm38)	D239N		Het
Mgam	T	A	6: 40,666,854 (GRCm38)	V572E	probably damaging	Het
Mrgprb2	G	T	7: 48,552,142 (GRCm38)	N278K	probably damaging	Het
Msto1	A	G	3: 88,911,823 (GRCm38)	Y206H	probably damaging	Het
Myo6	A	G	9: 80,262,291 (GRCm38)	S467G	unknown	Het
Mysm1	T	A	4: 94,961,727 (GRCm38)	I447L	probably benign	Het
Nav3	T	C	10: 109,852,934 (GRCm38)	E494G	possibly damaging	Het
Nol10	T	G	12: 17,402,173 (GRCm38)	V376G	probably damaging	Het
Nup205	T	A	6: 35,214,676 (GRCm38)	I1032N	probably damaging	Het
Oog2	A	G	4: 144,195,281 (GRCm38)	K254E	probably benign	Het
Or10ac1	A	G	6: 42,538,728 (GRCm38)	F98S	possibly damaging	Het
Or52z12	A	T	7: 103,584,381 (GRCm38)	I120L	possibly damaging	Het
Or5b98	A	G	19: 12,954,447 (GRCm38)	N286S	probably damaging	Het
Or5d41	A	T	2: 88,225,022 (GRCm38)	Y3*	probably null	Het
Or5g25	T	A	2: 85,647,424 (GRCm38)	D299V	possibly damaging	Het
Or5g27	A	G	2: 85,579,296 (GRCm38)	D19G	probably benign	Het
Or6b1	T	G	6: 42,838,746 (GRCm38)	Y288*	probably null	Het
Or6c6	A	T	10: 129,350,557 (GRCm38)		probably benign	Het
Or8h10	G	A	2: 86,978,157 (GRCm38)	T213I	probably benign	Het
Osbpl11	T	A	16: 33,236,279 (GRCm38)	D694E	probably benign	Het
Pcm1	T	A	8: 41,293,510 (GRCm38)	Y1210N	probably benign	Het
Pdxk	T	C	10: 78,440,863 (GRCm38)	M293V	probably benign	Het
Plcb3	T	C	19: 6,962,867 (GRCm38)	I451V	probably benign	Het
Plekhm2	A	G	4: 141,634,376 (GRCm38)	F272S	probably damaging	Het
Pramel32	C	A	4: 88,627,965 (GRCm38)	R380L	probably benign	Het
Ptgdr	A	T	14: 44,858,232 (GRCm38)		probably null	Het
Ptprf	C	T	4: 118,226,523 (GRCm38)	V788I	probably benign	Het
Ralbp1	C	T	17: 65,854,148 (GRCm38)	V467I	probably benign	Het
Ralgds	A	C	2: 28,543,655 (GRCm38)	Q229P	possibly damaging	Het
Recql	T	C	6: 142,374,884 (GRCm38)	D146G	probably damaging	Het
Reln	T	C	5: 22,051,367 (GRCm38)	N493S	probably damaging	Het
Rfxank	C	T	8: 70,135,286 (GRCm38)		probably null	Het
Scn5a	A	T	9: 119,486,530 (GRCm38)	M1704K	probably damaging	Het
Slc7a7	G	T	14: 54,374,268 (GRCm38)	A316E	possibly damaging	Het
Slco1a6	A	T	6: 142,091,068 (GRCm38)	C538S	probably benign	Het
Stard6	T	C	18: 70,498,647 (GRCm38)		probably null	Het
Strip2	T	A	6: 29,927,613 (GRCm38)	M219K	possibly damaging	Het
Tcam1	T	C	11: 106,284,085 (GRCm38)	V122A	probably damaging	Het
Tha1	A	G	11: 117,869,690 (GRCm38)	V236A	possibly damaging	Het
Tmem201	A	T	4: 149,731,097 (GRCm38)	I132N	possibly damaging	Het
Tnc	T	C	4: 64,020,657 (GRCm38)		probably benign	Het
Vmn1r42	T	C	6: 89,845,513 (GRCm38)	T25A	probably benign	Het
Vmn2r94	T	A	17: 18,244,503 (GRCm38)		probably null	Het
Wdfy4	A	C	14: 33,068,906 (GRCm38)	V2188G		Het
Zfp623	T	C	15: 75,947,398 (GRCm38)	S68P	probably damaging	Het
Zfp950	A	T	19: 61,119,155 (GRCm38)	C497S	probably damaging	Het
Zkscan2	C	T	7: 123,480,104 (GRCm38)	E877K	probably damaging	Het
Zp3r	C	A	1: 130,577,053 (GRCm38)	V536L	probably damaging	Het

Other mutations in Ldhb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02133:Ldhb	APN	6	142,492,500 (GRCm38)	missense	probably benign	0.16
IGL02215:Ldhb	APN	6	142,495,566 (GRCm38)	critical splice donor site	probably null
IGL03094:Ldhb	APN	6	142,505,527 (GRCm38)	missense	probably benign	0.00
IGL03337:Ldhb	APN	6	142,494,156 (GRCm38)	missense	probably benign
R0347:Ldhb	UTSW	6	142,494,133 (GRCm38)	missense	probably benign	0.00
R0703:Ldhb	UTSW	6	142,495,601 (GRCm38)	missense	probably damaging	1.00
R1531:Ldhb	UTSW	6	142,501,395 (GRCm38)	missense	probably benign	0.09
R1577:Ldhb	UTSW	6	142,492,598 (GRCm38)	missense	possibly damaging	0.87
R1844:Ldhb	UTSW	6	142,494,208 (GRCm38)	missense	probably damaging	1.00
R2151:Ldhb	UTSW	6	142,498,670 (GRCm38)	missense	possibly damaging	0.76
R3500:Ldhb	UTSW	6	142,501,447 (GRCm38)	missense	probably damaging	1.00
R4502:Ldhb	UTSW	6	142,490,457 (GRCm38)	missense	possibly damaging	0.60
R5139:Ldhb	UTSW	6	142,494,195 (GRCm38)	missense	probably damaging	1.00
R5214:Ldhb	UTSW	6	142,495,595 (GRCm38)	missense	probably damaging	1.00
R6499:Ldhb	UTSW	6	142,494,121 (GRCm38)	missense	possibly damaging	0.92
R6525:Ldhb	UTSW	6	142,490,465 (GRCm38)	missense	probably benign
R6598:Ldhb	UTSW	6	142,490,600 (GRCm38)	missense	possibly damaging	0.56
R7096:Ldhb	UTSW	6	142,501,373 (GRCm38)	missense	probably benign	0.09
R7565:Ldhb	UTSW	6	142,492,519 (GRCm38)	missense	possibly damaging	0.67
R8447:Ldhb	UTSW	6	142,498,630 (GRCm38)	missense	probably damaging	0.99
R9120:Ldhb	UTSW	6	142,494,209 (GRCm38)	missense	probably damaging	1.00
R9628:Ldhb	UTSW	6	142,494,136 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TACTTCTGAGCCCTTTCTGAAATAC -3'
(R):5'- CCTGACCCAACTGTGAGAATC -3'

Sequencing Primer
(F):5'- GAGCCCTTTCTGAAATACAGCAATG -3'
(R):5'- GACCCAACTGTGAGAATCTTTCTGG -3'

Posted On

2019-09-13