Incidental Mutation 'R6499:Ldhb'
ID |
519627 |
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 |
044631-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6499 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142435975-142453683 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142439847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 231
(V231E)
|
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: V231E
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032373 Gene: ENSMUSG00000030246 AA Change: V231E
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: ENSMUST00000134191
|
SMART Domains |
Protein: ENSMUSP00000116014 Gene: ENSMUSG00000030246
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 |
probably benign
Transcript: ENSMUST00000204433
AA Change: V164E
PolyPhen 2
Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
Validation Efficiency |
98% (43/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,774,561 (GRCm39) |
T1250M |
probably damaging |
Het |
Actn1 |
C |
T |
12: 80,215,191 (GRCm39) |
A857T |
possibly damaging |
Het |
Adam2 |
C |
T |
14: 66,296,239 (GRCm39) |
V207I |
probably damaging |
Het |
Angpt2 |
T |
C |
8: 18,744,533 (GRCm39) |
T404A |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,827,574 (GRCm39) |
|
probably benign |
Het |
Atosa |
C |
A |
9: 74,930,930 (GRCm39) |
Q958K |
probably damaging |
Het |
B4galt4 |
T |
A |
16: 38,578,184 (GRCm39) |
D210E |
probably benign |
Het |
Brinp3 |
A |
T |
1: 146,777,431 (GRCm39) |
H626L |
possibly damaging |
Het |
Ccna2 |
T |
G |
3: 36,625,112 (GRCm39) |
D68A |
probably damaging |
Het |
Cd163 |
G |
A |
6: 124,281,703 (GRCm39) |
G2D |
probably benign |
Het |
Chrm5 |
A |
T |
2: 112,310,825 (GRCm39) |
V97D |
probably benign |
Het |
Dctn5 |
G |
A |
7: 121,734,320 (GRCm39) |
V55I |
probably benign |
Het |
Dnm3 |
A |
T |
1: 162,141,164 (GRCm39) |
I365N |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,284,790 (GRCm39) |
D184G |
probably damaging |
Het |
Ifi214 |
C |
A |
1: 173,352,597 (GRCm39) |
K277N |
probably damaging |
Het |
Il11ra1 |
C |
T |
4: 41,765,412 (GRCm39) |
P169L |
probably benign |
Het |
Inhbb |
C |
T |
1: 119,345,069 (GRCm39) |
E407K |
probably damaging |
Het |
Lama2 |
T |
A |
10: 26,907,154 (GRCm39) |
T2336S |
probably damaging |
Het |
Lrit2 |
T |
C |
14: 36,790,767 (GRCm39) |
F149L |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,936,500 (GRCm39) |
S1575T |
probably benign |
Het |
Naip5 |
A |
G |
13: 100,358,102 (GRCm39) |
C1045R |
probably benign |
Het |
Nefl |
A |
G |
14: 68,322,034 (GRCm39) |
E208G |
probably damaging |
Het |
Oog4 |
A |
C |
4: 143,164,548 (GRCm39) |
S328A |
probably damaging |
Het |
Or1e1 |
T |
A |
11: 73,245,011 (GRCm39) |
L144Q |
probably damaging |
Het |
Or5p79 |
G |
T |
7: 108,221,713 (GRCm39) |
M231I |
probably benign |
Het |
Or6c216 |
T |
C |
10: 129,678,453 (GRCm39) |
I153V |
probably benign |
Het |
Or7e168 |
A |
G |
9: 19,719,847 (GRCm39) |
I78V |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,783,466 (GRCm39) |
N528D |
probably damaging |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Polq |
T |
C |
16: 36,881,189 (GRCm39) |
S839P |
probably benign |
Het |
Psmg1 |
A |
G |
16: 95,789,297 (GRCm39) |
F87L |
probably damaging |
Het |
Ptprt |
A |
G |
2: 161,376,507 (GRCm39) |
M1298T |
probably benign |
Het |
Rbm27 |
T |
A |
18: 42,470,076 (GRCm39) |
W958R |
probably damaging |
Het |
Skint5 |
T |
G |
4: 113,396,552 (GRCm39) |
D1207A |
unknown |
Het |
Stx17 |
T |
A |
4: 48,183,478 (GRCm39) |
|
probably null |
Het |
Tas2r114 |
A |
T |
6: 131,666,099 (GRCm39) |
*310R |
probably null |
Het |
Tmem130 |
T |
A |
5: 144,689,224 (GRCm39) |
N139I |
probably damaging |
Het |
Trpc1 |
T |
C |
9: 95,608,490 (GRCm39) |
E267G |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,793,812 (GRCm39) |
M3398K |
probably damaging |
Het |
Vrtn |
T |
G |
12: 84,697,090 (GRCm39) |
D613E |
probably benign |
Het |
Vsx1 |
G |
T |
2: 150,530,441 (GRCm39) |
T147K |
probably benign |
Het |
Wdr55 |
T |
C |
18: 36,895,231 (GRCm39) |
V103A |
probably benign |
Het |
Zfp712 |
A |
T |
13: 67,200,400 (GRCm39) |
D28E |
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 |
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 |
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 |
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'- TGTCTCTACATTTGCCGGG -3'
(R):5'- ACTCTACCAGGGACAATTGCC -3'
Sequencing Primer
(F):5'- GGTTTTCCCCTGAGAACACAC -3'
(R):5'- TCTACCAGGGACAATTGCCATTAG -3'
|
Posted On |
2018-06-06 |