Incidental Mutation 'IGL03094:Ldhb'
| ID |
418491 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ldhb
|
| Ensembl Gene |
ENSMUSG00000030246 |
| Gene Name |
lactate dehydrogenase B |
| Synonyms |
lactate dehydrogenase-B, Ldh-2, H-Ldh |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142435975-142453683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142451253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 5
(K5R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032373]
[ENSMUST00000134191]
|
| AlphaFold |
P16125 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032373
AA Change: K5R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: K5R
| 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: ENSMUST00000134191
AA Change: K5R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116014
Gene: ENSMUSG00000030246
AA Change: K5R
| 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
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,074,938 (GRCm39) |
N1375S |
probably benign |
Het |
| Adamts15 |
A |
T |
9: 30,815,768 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,980,911 (GRCm39) |
V732M |
possibly damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,286,184 (GRCm39) |
V61I |
probably benign |
Het |
| BC025920 |
C |
A |
10: 81,444,906 (GRCm39) |
R10S |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,385,035 (GRCm39) |
I347V |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,724,886 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
A |
4: 115,435,305 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Glra3 |
C |
A |
8: 56,578,207 (GRCm39) |
H421Q |
probably benign |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,049 (GRCm39) |
N145S |
probably damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,864,339 (GRCm39) |
V256E |
probably damaging |
Het |
| Ighv1-34 |
C |
T |
12: 114,814,958 (GRCm39) |
G68E |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,089 (GRCm39) |
|
probably benign |
Het |
| Knop1 |
T |
A |
7: 118,452,374 (GRCm39) |
D63V |
possibly damaging |
Het |
| Krt39 |
T |
C |
11: 99,411,628 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,809 (GRCm39) |
I1872F |
possibly damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,886,532 (GRCm39) |
N107D |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,746,291 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 95,023,130 (GRCm39) |
T236I |
probably benign |
Het |
| Olig3 |
T |
C |
10: 19,232,878 (GRCm39) |
S168P |
probably benign |
Het |
| Or1i2 |
A |
G |
10: 78,447,953 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,093,755 (GRCm39) |
I1020R |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,624,845 (GRCm39) |
N441S |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,075,519 (GRCm39) |
S398P |
probably damaging |
Het |
| Ppm1m |
T |
G |
9: 106,073,610 (GRCm39) |
K314T |
probably damaging |
Het |
| Prmt2 |
T |
A |
10: 76,046,224 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,261,023 (GRCm39) |
S216P |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,434,109 (GRCm39) |
|
probably benign |
Het |
| Tmem225 |
A |
T |
9: 40,059,682 (GRCm39) |
I21L |
possibly damaging |
Het |
| Tnnt2 |
T |
C |
1: 135,777,200 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
A |
T |
10: 78,064,754 (GRCm39) |
|
probably benign |
Het |
| Trip13 |
A |
G |
13: 74,081,075 (GRCm39) |
L97P |
probably benign |
Het |
| Zmat2 |
T |
G |
18: 36,929,119 (GRCm39) |
V89G |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation