Mutagenetix > Incidental Mutation

Incidental Mutation 'R4502:Ldhb'

331853

Institutional Source

Beutler Lab

Gene Symbol

Ldhb

Ensembl Gene

ENSMUSG00000030246

Gene Name

lactate dehydrogenase B

Synonyms

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

MMRRC Submission

041754-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4502 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142435975-142453683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142436183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 329 (K329E)

Ref Sequence

ENSEMBL: ENSMUSP00000032373 (fasta)

Gene Model

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

AlphaFold

P16125

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032373
AA Change: K329E

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: K329E

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 benign
Transcript: ENSMUST00000204433

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	A	C	3: 20,369,962 (GRCm39)	Y215D	probably damaging	Het
Arf5	T	C	6: 28,425,775 (GRCm39)	V123A	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atm	A	G	9: 53,407,246 (GRCm39)	V1164A	possibly damaging	Het
Atp6v0d1	A	G	8: 106,292,430 (GRCm39)	C39R	probably damaging	Het
Bmp8a	T	A	4: 123,236,192 (GRCm39)	S104C	probably damaging	Het
Cand1	T	C	10: 119,052,572 (GRCm39)	T185A	probably benign	Het
Ccdc171	A	G	4: 83,782,560 (GRCm39)	E1284G	probably damaging	Het
Chodl	A	G	16: 78,728,332 (GRCm39)	S26G	possibly damaging	Het
Cic	C	T	7: 24,987,892 (GRCm39)	P620S	probably damaging	Het
Col3a1	T	C	1: 45,387,837 (GRCm39)		probably benign	Het
Dpyd	G	T	3: 118,591,186 (GRCm39)	G225C	probably damaging	Het
Dst	G	A	1: 34,286,772 (GRCm39)	V5560M	probably damaging	Het
Eea1	G	A	10: 95,875,427 (GRCm39)	E1233K	probably benign	Het
Fryl	T	C	5: 73,245,740 (GRCm39)	D1139G	probably damaging	Het
Gpr39	G	A	1: 125,605,728 (GRCm39)	V219I	probably benign	Het
Hc	T	C	2: 34,896,264 (GRCm39)	D1173G	probably benign	Het
Htr2a	T	A	14: 74,879,428 (GRCm39)	M19K	probably benign	Het
Kank4	G	A	4: 98,665,335 (GRCm39)	S653L	possibly damaging	Het
Kcnt2	G	T	1: 140,435,485 (GRCm39)	C484F	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klhl1	A	G	14: 96,755,282 (GRCm39)	S158P	probably benign	Het
Ldb2	T	C	5: 44,826,749 (GRCm39)	D62G	probably damaging	Het
Mtmr7	T	C	8: 41,011,203 (GRCm39)	E285G	possibly damaging	Het
Or2p2	A	T	13: 21,256,916 (GRCm39)	I185N	probably damaging	Het
Or5k15	T	C	16: 58,710,539 (GRCm39)	I15V	probably benign	Het
Or6aa1	T	A	7: 86,044,485 (GRCm39)	T74S	possibly damaging	Het
Pi4kb	T	A	3: 94,903,918 (GRCm39)	H501Q	probably benign	Het
Ppargc1b	T	C	18: 61,435,750 (GRCm39)	K910R	probably benign	Het
Ppp1r12a	G	T	10: 108,085,339 (GRCm39)	R428I	probably benign	Het
Rbbp8nl	G	T	2: 179,920,989 (GRCm39)	T465N	possibly damaging	Het
Rpl5	T	C	5: 108,052,723 (GRCm39)	F223S	possibly damaging	Het
Scpep1	T	C	11: 88,835,211 (GRCm39)	K154R	probably benign	Het
Sil1	T	C	18: 35,450,928 (GRCm39)	Y249C	probably benign	Het
Slc12a1	T	A	2: 125,067,964 (GRCm39)	L1017Q	probably damaging	Het
Slc2a9	T	C	5: 38,556,154 (GRCm39)	N264S	probably benign	Het
Slc49a4	T	C	16: 35,539,787 (GRCm39)	M345V	probably benign	Het
Tdrd5	T	A	1: 156,128,334 (GRCm39)	M141L	probably benign	Het
Tdrd9	T	C	12: 111,960,259 (GRCm39)	C182R	probably damaging	Het
Thap4	T	C	1: 93,678,709 (GRCm39)		probably null	Het
Tmem131	T	C	1: 36,864,560 (GRCm39)	T558A	probably benign	Het
Tnks1bp1	C	T	2: 84,892,991 (GRCm39)	R973*	probably null	Het
Ulk3	A	G	9: 57,500,512 (GRCm39)	Y307C	probably damaging	Het
Usp25	T	C	16: 76,912,284 (GRCm39)	L1001P	probably damaging	Het
Vmn2r80	A	T	10: 78,984,764 (GRCm39)	T39S	probably benign	Het
Vps33b	G	A	7: 79,937,655 (GRCm39)	A468T	possibly damaging	Het
Wnt9a	T	C	11: 59,219,363 (GRCm39)	S130P	probably damaging	Het
Zfp236	T	C	18: 82,655,079 (GRCm39)	E730G	probably benign	Het
Zfp689	C	A	7: 127,047,925 (GRCm39)	V36L	probably benign	Het
Zfp938	A	G	10: 82,062,105 (GRCm39)	S172P	possibly damaging	Het

Other mutations in Ldhb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02133:Ldhb	APN	6	142,438,226 (GRCm39)	missense	probably benign	0.16
IGL02215:Ldhb	APN	6	142,441,292 (GRCm39)	critical splice donor site	probably null
IGL03094:Ldhb	APN	6	142,451,253 (GRCm39)	missense	probably benign	0.00
IGL03337:Ldhb	APN	6	142,439,882 (GRCm39)	missense	probably benign
R0347:Ldhb	UTSW	6	142,439,859 (GRCm39)	missense	probably benign	0.00
R0703:Ldhb	UTSW	6	142,441,327 (GRCm39)	missense	probably damaging	1.00
R1531:Ldhb	UTSW	6	142,447,121 (GRCm39)	missense	probably benign	0.09
R1577:Ldhb	UTSW	6	142,438,324 (GRCm39)	missense	possibly damaging	0.87
R1844:Ldhb	UTSW	6	142,439,934 (GRCm39)	missense	probably damaging	1.00
R2151:Ldhb	UTSW	6	142,444,396 (GRCm39)	missense	possibly damaging	0.76
R3500:Ldhb	UTSW	6	142,447,173 (GRCm39)	missense	probably damaging	1.00
R5139:Ldhb	UTSW	6	142,439,921 (GRCm39)	missense	probably damaging	1.00
R5214:Ldhb	UTSW	6	142,441,321 (GRCm39)	missense	probably damaging	1.00
R6499:Ldhb	UTSW	6	142,439,847 (GRCm39)	missense	possibly damaging	0.92
R6525:Ldhb	UTSW	6	142,436,191 (GRCm39)	missense	probably benign
R6598:Ldhb	UTSW	6	142,436,326 (GRCm39)	missense	possibly damaging	0.56
R7096:Ldhb	UTSW	6	142,447,099 (GRCm39)	missense	probably benign	0.09
R7399:Ldhb	UTSW	6	142,441,399 (GRCm39)	missense	probably damaging	0.99
R7565:Ldhb	UTSW	6	142,438,245 (GRCm39)	missense	possibly damaging	0.67
R8447:Ldhb	UTSW	6	142,444,356 (GRCm39)	missense	probably damaging	0.99
R9120:Ldhb	UTSW	6	142,439,935 (GRCm39)	missense	probably damaging	1.00
R9628:Ldhb	UTSW	6	142,439,862 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGGCAGAAGTATGCTGCAATTG -3'
(R):5'- ATGGCCTCATTGGATGCTTTC -3'

Sequencing Primer
(F):5'- TTGATCAGGAGCTCCTAGTGCAAAC -3'
(R):5'- CTTTGCTCTCACAGGGAATGTACG -3'

Posted On

2015-07-21