Incidental Mutation 'R5139:Ldhb'
| ID |
396349 |
| 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 |
042725-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5139 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142435975-142453683 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142439921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 206
(N206K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032373]
[ENSMUST00000134191]
|
| AlphaFold |
P16125 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032373
AA Change: N206K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032373
Gene: ENSMUSG00000030246
AA Change: N206K
| 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 |
unknown
Transcript: ENSMUST00000204433
AA Change: N139K
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
C |
4: 148,029,905 (GRCm39) |
L625P |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,648,027 (GRCm39) |
S598P |
probably damaging |
Het |
| Ahnak |
A |
C |
19: 8,982,019 (GRCm39) |
D1101A |
probably damaging |
Het |
| Aoah |
T |
C |
13: 21,207,407 (GRCm39) |
V542A |
possibly damaging |
Het |
| Aox1 |
T |
C |
1: 58,100,456 (GRCm39) |
S418P |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,669,112 (GRCm39) |
I354T |
probably benign |
Het |
| BC035947 |
T |
C |
1: 78,475,884 (GRCm39) |
E216G |
possibly damaging |
Het |
| Bnip3l |
A |
G |
14: 67,237,064 (GRCm39) |
S63P |
probably damaging |
Het |
| Cckar |
T |
C |
5: 53,860,265 (GRCm39) |
N188S |
probably benign |
Het |
| Ccl24 |
C |
T |
5: 135,601,775 (GRCm39) |
A18T |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,232,569 (GRCm39) |
C840R |
probably benign |
Het |
| Copa |
C |
T |
1: 171,948,896 (GRCm39) |
R1183W |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,876,024 (GRCm39) |
V2621A |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,248,061 (GRCm39) |
Y1019H |
probably damaging |
Het |
| Hira |
T |
C |
16: 18,773,508 (GRCm39) |
Y943H |
probably damaging |
Het |
| Ighv3-8 |
T |
C |
12: 114,285,994 (GRCm39) |
Y116C |
probably damaging |
Het |
| Igkv4-70 |
G |
A |
6: 69,245,089 (GRCm39) |
T44I |
probably damaging |
Het |
| Lce3c |
G |
A |
3: 92,852,778 (GRCm39) |
G80S |
unknown |
Het |
| Mical1 |
T |
A |
10: 41,354,411 (GRCm39) |
|
probably null |
Het |
| Myh2 |
T |
C |
11: 67,070,174 (GRCm39) |
L402P |
probably damaging |
Het |
| Naa15 |
T |
A |
3: 51,351,261 (GRCm39) |
L144I |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,534,384 (GRCm39) |
I2918F |
possibly damaging |
Het |
| Or5w11 |
C |
A |
2: 87,459,000 (GRCm39) |
H64Q |
probably benign |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pdlim7 |
A |
G |
13: 55,654,869 (GRCm39) |
S214P |
probably damaging |
Het |
| Polg |
T |
C |
7: 79,099,773 (GRCm39) |
D49G |
probably damaging |
Het |
| Polr2f |
C |
A |
15: 79,035,858 (GRCm39) |
D106E |
possibly damaging |
Het |
| Ppp6r3 |
A |
C |
19: 3,514,610 (GRCm39) |
N766K |
probably damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,049 (GRCm39) |
D220V |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,433,203 (GRCm39) |
N341I |
probably damaging |
Het |
| Septin9 |
A |
G |
11: 117,247,511 (GRCm39) |
K497E |
possibly damaging |
Het |
| Sfswap |
T |
G |
5: 129,648,073 (GRCm39) |
M927R |
possibly damaging |
Het |
| Smad9 |
T |
G |
3: 54,704,827 (GRCm39) |
W400G |
possibly damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
| Tesmin |
A |
G |
19: 3,456,934 (GRCm39) |
I238V |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,100,133 (GRCm39) |
|
probably null |
Het |
| Trpc3 |
A |
T |
3: 36,725,706 (GRCm39) |
M90K |
possibly damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,450 (GRCm39) |
T813I |
probably benign |
Het |
| Tub |
T |
A |
7: 108,610,309 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy3 |
A |
T |
5: 101,997,133 (GRCm39) |
|
probably null |
Het |
| Zfp853 |
T |
C |
5: 143,274,570 (GRCm39) |
Q350R |
unknown |
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 |
|
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'- ACCAGAGCAGAAGTGTGGATTC -3'
(R):5'- GCCACATTTGTTTAAAGCGAAAAGG -3'
Sequencing Primer
(F):5'- TGGATTCTATCTACCAGGACAGGAC -3'
(R):5'- ACATCTGGTTCACAATGGCCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation