Incidental Mutation 'R6598:Ldhb'
| ID |
525039 |
| 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 |
044722-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6598 (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 142436326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 281
(M281K)
|
| 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: M281K
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: M281K
| 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 |
unknown
Transcript: ENSMUST00000130817
AA Change: N28K
|
| 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 |
unknown
Transcript: ENSMUST00000204433
AA Change: C173S
|
| Meta Mutation Damage Score |
0.2060 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (43/43) |
| 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 |
|---|
| Adcy4 |
A |
T |
14: 56,007,502 (GRCm39) |
S943T |
probably benign |
Het |
| Adgrv1 |
T |
G |
13: 81,654,298 (GRCm39) |
E2911A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,430,896 (GRCm39) |
F819S |
probably damaging |
Het |
| Cald1 |
G |
A |
6: 34,723,575 (GRCm39) |
|
probably null |
Het |
| Clca3a2 |
G |
T |
3: 144,792,246 (GRCm39) |
Y338* |
probably null |
Het |
| Cmya5 |
C |
T |
13: 93,226,316 (GRCm39) |
G2924D |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,877,611 (GRCm39) |
L2122Q |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,161 (GRCm39) |
F1258S |
probably benign |
Het |
| Ddx39a |
T |
C |
8: 84,449,556 (GRCm39) |
V387A |
probably benign |
Het |
| Dscam |
A |
G |
16: 96,620,984 (GRCm39) |
C575R |
probably damaging |
Het |
| Dyrk4 |
C |
T |
6: 126,853,289 (GRCm39) |
V632M |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,609,902 (GRCm39) |
S111P |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,789,376 (GRCm39) |
L578Q |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,932,065 (GRCm39) |
F212Y |
probably damaging |
Het |
| Golm2 |
A |
T |
2: 121,763,966 (GRCm39) |
E247D |
probably damaging |
Het |
| Golm2 |
G |
A |
2: 121,763,967 (GRCm39) |
E383K |
probably damaging |
Het |
| Icos |
T |
G |
1: 61,033,856 (GRCm39) |
I162S |
possibly damaging |
Het |
| Kcnj8 |
G |
T |
6: 142,515,959 (GRCm39) |
N49K |
probably damaging |
Het |
| Med17 |
T |
C |
9: 15,182,996 (GRCm39) |
K350E |
probably benign |
Het |
| Mpo |
A |
T |
11: 87,690,798 (GRCm39) |
N412I |
probably benign |
Het |
| Mrps24 |
A |
T |
11: 5,654,713 (GRCm39) |
D80E |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,153,516 (GRCm39) |
D134G |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,204,109 (GRCm39) |
Q140R |
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,441,515 (GRCm39) |
V1662A |
possibly damaging |
Het |
| Or10ag53 |
C |
T |
2: 87,083,100 (GRCm39) |
T273I |
probably damaging |
Het |
| Or5p51 |
G |
A |
7: 107,444,470 (GRCm39) |
L157F |
probably benign |
Het |
| Or6c88 |
C |
A |
10: 129,407,238 (GRCm39) |
T238N |
probably damaging |
Het |
| Polq |
G |
A |
16: 36,881,993 (GRCm39) |
A1386T |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
| Prim1 |
G |
T |
10: 127,856,049 (GRCm39) |
V165L |
possibly damaging |
Het |
| Slc12a2 |
G |
A |
18: 58,031,145 (GRCm39) |
V317I |
probably benign |
Het |
| Tbpl1 |
A |
G |
10: 22,583,748 (GRCm39) |
V103A |
probably damaging |
Het |
| Tmprss11c |
C |
T |
5: 86,437,092 (GRCm39) |
E10K |
probably benign |
Het |
| Unc80 |
T |
G |
1: 66,507,699 (GRCm39) |
|
probably null |
Het |
| Uqcrc1 |
G |
T |
9: 108,776,690 (GRCm39) |
V30F |
possibly damaging |
Het |
| Vmn1r88 |
T |
C |
7: 12,912,150 (GRCm39) |
Y169H |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,404,626 (GRCm39) |
|
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,569,623 (GRCm39) |
D1490G |
probably damaging |
Het |
| Zer1 |
T |
A |
2: 30,003,286 (GRCm39) |
S44C |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,365,541 (GRCm39) |
K289* |
probably null |
Het |
| Zfp618 |
A |
G |
4: 63,007,636 (GRCm39) |
Y155C |
probably damaging |
Het |
| Zfp979 |
A |
G |
4: 147,698,223 (GRCm39) |
L162P |
probably 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 |
|
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 |
|
|
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'- AGGTTCATGGTCACATTGGAG -3'
(R):5'- TCGTAGAATAGGTTTGCACAGTC -3'
Sequencing Primer
(F):5'- TTCTACAGCCTAGAGACTGGCAG -3'
(R):5'- CTCAAAACCCAAGTTTATGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation