Mutagenetix > Incidental Mutation

Incidental Mutation 'R2151:Ldhb'

234263

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

040154-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2151 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142435975-142453683 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142444396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 86 (V86L)

Ref Sequence

ENSEMBL: ENSMUSP00000032373 (fasta)

Gene Model

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

AlphaFold

P16125

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032373
AA Change: V86L

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: V86L

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

possibly damaging
Transcript: ENSMUST00000134191
AA Change: V86L

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116014
Gene: ENSMUSG00000030246
AA Change: V86L

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

unknown
Transcript: ENSMUST00000204433
AA Change: V19L

Meta Mutation Damage Score

0.5564

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	C	12: 72,954,725 (GRCm39)		probably null	Het
4930579F01Rik	A	G	3: 137,882,217 (GRCm39)		probably null	Het
Abhd17c	G	T	7: 83,800,663 (GRCm39)	H130Q	probably damaging	Het
Actr10	T	A	12: 70,987,575 (GRCm39)	C27*	probably null	Het
Als2	G	A	1: 59,246,948 (GRCm39)	H564Y	probably damaging	Het
Anxa2r1	C	T	13: 120,496,335 (GRCm39)	C178Y	unknown	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Bicd2	G	T	13: 49,533,052 (GRCm39)	C546F	probably damaging	Het
Ccn3	G	A	15: 54,615,854 (GRCm39)	A340T	probably benign	Het
Cnbp	C	T	6: 87,822,281 (GRCm39)	G81D	probably damaging	Het
Dnah5	T	C	15: 28,444,237 (GRCm39)	Y4012H	probably damaging	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Drc3	A	T	11: 60,265,983 (GRCm39)	E224V	probably benign	Het
Ehd2	T	C	7: 15,686,128 (GRCm39)	K315E	probably damaging	Het
Eif6	A	T	2: 155,664,810 (GRCm39)	N225K	probably benign	Het
Epg5	T	C	18: 78,070,517 (GRCm39)	V2264A	probably benign	Het
Faf2	T	C	13: 54,796,220 (GRCm39)	F126L	probably damaging	Het
Fiz1	T	C	7: 5,015,880 (GRCm39)	S37G	possibly damaging	Het
Frs3	T	C	17: 48,013,987 (GRCm39)	S227P	probably benign	Het
Garin3	A	T	11: 46,296,158 (GRCm39)	K177*	probably null	Het
Gm4787	T	A	12: 81,423,993 (GRCm39)	I722F	probably benign	Het
Gm6370	T	A	5: 146,430,451 (GRCm39)	L212Q	probably damaging	Het
Gmnc	G	A	16: 26,779,456 (GRCm39)	H142Y	possibly damaging	Het
Gna15	T	C	10: 81,338,738 (GRCm39)	Y367C	probably damaging	Het
Gpr158	G	A	2: 21,832,325 (GRCm39)	V1142M	possibly damaging	Het
Gpx6	A	G	13: 21,503,141 (GRCm39)	K185R	probably damaging	Het
Hc	A	C	2: 34,881,115 (GRCm39)		probably benign	Het
Hdac9	A	G	12: 34,440,255 (GRCm39)	S375P	probably damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Klre1	G	A	6: 129,556,996 (GRCm39)	E33K	possibly damaging	Het
Maco1	A	G	4: 134,538,534 (GRCm39)	V470A	probably benign	Het
Magi3	T	A	3: 103,954,198 (GRCm39)	K713I	probably damaging	Het
Magi3	T	C	3: 103,992,554 (GRCm39)	Y306C	probably damaging	Het
Minar1	T	G	9: 89,484,221 (GRCm39)	K392T	possibly damaging	Het
Mmp17	T	C	5: 129,682,725 (GRCm39)	Y455H	probably benign	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Myo1a	T	C	10: 127,556,050 (GRCm39)	I969T	probably benign	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nf1	T	A	11: 79,338,396 (GRCm39)	M1136K	possibly damaging	Het
Nmi	T	C	2: 51,842,555 (GRCm39)	E179G	probably damaging	Het
Nrros	A	T	16: 31,962,076 (GRCm39)	M611K	probably benign	Het
Nsd1	A	T	13: 55,439,049 (GRCm39)	N1692I	probably damaging	Het
Nuak1	T	C	10: 84,245,509 (GRCm39)	N112S	probably benign	Het
Odf2l	T	C	3: 144,854,785 (GRCm39)	Y488H	possibly damaging	Het
Or4c106	C	A	2: 88,683,128 (GRCm39)	P278H	probably damaging	Het
Or8g21	T	A	9: 38,906,012 (GRCm39)	T240S	probably damaging	Het
Or8g30	T	A	9: 39,230,413 (GRCm39)	I166F	probably damaging	Het
Otop2	A	G	11: 115,220,237 (GRCm39)	D359G	possibly damaging	Het
Pi4ka	A	T	16: 17,185,371 (GRCm39)	F243Y	probably benign	Het
Pnma8b	T	C	7: 16,679,837 (GRCm39)	C274R	probably benign	Het
Ppp1r42	A	G	1: 10,073,572 (GRCm39)	V6A	probably benign	Het
Prrg4	A	G	2: 104,669,733 (GRCm39)	L128S	probably damaging	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Psen2	A	G	1: 180,061,229 (GRCm39)	V278A	probably damaging	Het
Ptpn13	C	A	5: 103,673,651 (GRCm39)	T538K	probably damaging	Het
Pttg1ip2	C	T	5: 5,528,875 (GRCm39)	V47I	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Rbak	A	C	5: 143,162,257 (GRCm39)	D35E	possibly damaging	Het
Rbms1	C	A	2: 60,592,392 (GRCm39)		probably null	Het
Rgs7bp	T	A	13: 105,100,597 (GRCm39)	N226I	probably damaging	Het
Rnf182	T	A	13: 43,821,899 (GRCm39)	V150E	probably benign	Het
Sacs	A	G	14: 61,447,089 (GRCm39)	Y3045C	probably damaging	Het
Scp2	G	T	4: 107,921,141 (GRCm39)	A23E	probably benign	Het
Sec16a	A	T	2: 26,303,757 (GRCm39)		probably benign	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slfn10-ps	T	A	11: 82,926,511 (GRCm39)		noncoding transcript	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Slx	T	A	X: 26,489,689 (GRCm39)		probably benign	Het
Spns3	C	A	11: 72,436,787 (GRCm39)		probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Taf3	C	T	2: 9,956,377 (GRCm39)	E597K	possibly damaging	Het
Tbcd	A	G	11: 121,494,457 (GRCm39)	Q1006R	possibly damaging	Het
Tenm4	G	T	7: 96,552,054 (GRCm39)	V2498F	probably damaging	Het
Tex2	T	C	11: 106,458,161 (GRCm39)		probably benign	Het
Tkfc	A	T	19: 10,576,421 (GRCm39)	L154Q	probably damaging	Het
Tmem62	A	G	2: 120,817,343 (GRCm39)	H257R	probably damaging	Het
Trpm2	T	C	10: 77,768,013 (GRCm39)	I829V	probably benign	Het
Ttc38	A	G	15: 85,735,802 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,548,757 (GRCm39)	Y30135*	probably null	Het
Ttn	A	G	2: 76,810,477 (GRCm39)	V17A	probably benign	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn1r235	G	A	17: 21,482,628 (GRCm39)	V318I	probably benign	Het
Vmn2r76	T	C	7: 85,879,692 (GRCm39)	I203V	probably benign	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Zfp180	A	G	7: 23,804,685 (GRCm39)	H368R	probably damaging	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly damaging	Het
Zfyve27	G	T	19: 42,160,170 (GRCm39)	R62L	probably benign	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
R3500:Ldhb	UTSW	6	142,447,173 (GRCm39)	missense	probably damaging	1.00
R4502:Ldhb	UTSW	6	142,436,183 (GRCm39)	missense	possibly damaging	0.60
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'- CCAGTTAAGGTGCCATGTTGG -3'
(R):5'- GCAGAGACTTGAAGTTCAAAACC -3'

Sequencing Primer
(F):5'- CATGTTGGTACCTGGGTTGGAAAC -3'
(R):5'- ACCATCTGTGATGAGATCTGATGCC -3'

Posted On

2014-10-01