Incidental Mutation 'IGL01993:Ldha'
| ID |
182081 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ldha
|
| Ensembl Gene |
ENSMUSG00000063229 |
| Gene Name |
lactate dehydrogenase A |
| Synonyms |
Ldh1, Ldh-1, lactate dehydrogenase-A, LDH-A, l7R2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01993
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
46491698-46505051 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46504524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 349
(A349T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005051]
[ENSMUST00000048209]
[ENSMUST00000092621]
[ENSMUST00000132157]
[ENSMUST00000147535]
[ENSMUST00000209548]
[ENSMUST00000209984]
[ENSMUST00000210815]
[ENSMUST00000210968]
[ENSMUST00000210631]
[ENSMUST00000210467]
|
| AlphaFold |
P06151 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005051
AA Change: A320T
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103267
Gene: ENSMUSG00000063229
AA Change: A320T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ldh_1_N
|
50 |
189 |
2.5e-52 |
PFAM |
|
Pfam:Ldh_1_C
|
192 |
360 |
2.7e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048209
AA Change: A320T
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000036386
Gene: ENSMUSG00000063229
AA Change: A320T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ldh_1_N
|
21 |
160 |
3e-53 |
PFAM |
|
Pfam:Ldh_1_C
|
163 |
331 |
1.2e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092621
|
| SMART Domains |
Protein: ENSMUSP00000097661
Gene: ENSMUSG00000063229
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ldh_1_N
|
21 |
160 |
3.9e-54 |
PFAM |
|
Pfam:Ldh_1_C
|
163 |
237 |
3.3e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132157
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147535
|
| SMART Domains |
Protein: ENSMUSP00000123356
Gene: ENSMUSG00000063229
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ldh_1_N
|
58 |
197 |
5.7e-54 |
PFAM |
|
Pfam:Ldh_1_C
|
200 |
273 |
5.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209548
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209984
AA Change: A349T
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210815
AA Change: A303T
PolyPhen 2
Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210198
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210467
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to hemolytic anemia and early postimplantation death in mice. Multiple transcript variants encoding different isoforms have been found for this gene. The mouse genome contains multiple pseudogenes of this gene. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for one chemically induced mutation exhibit severe hemolytic anemia with pronounced reticulocytosis and hyperbilirubinemia. Another mutation results in prenatal lethality in homozygotes. [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 |
|---|
| Abca13 |
C |
A |
11: 9,208,452 (GRCm39) |
|
probably benign |
Het |
| Acnat2 |
A |
T |
4: 49,380,131 (GRCm39) |
S398T |
probably benign |
Het |
| Adgrb2 |
G |
T |
4: 129,912,635 (GRCm39) |
E1296D |
possibly damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
C |
A |
2: 25,164,725 (GRCm39) |
D322E |
probably benign |
Het |
| Apobec1 |
A |
G |
6: 122,565,138 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
T |
C |
15: 99,595,353 (GRCm39) |
V393A |
probably benign |
Het |
| Cfap65 |
A |
C |
1: 74,959,702 (GRCm39) |
F816C |
probably damaging |
Het |
| Cfap69 |
A |
C |
5: 5,631,284 (GRCm39) |
L914R |
probably damaging |
Het |
| Cgas |
A |
G |
9: 78,349,802 (GRCm39) |
S187P |
probably benign |
Het |
| Cspg4 |
C |
T |
9: 56,805,762 (GRCm39) |
T2191I |
probably benign |
Het |
| Cyp11a1 |
T |
A |
9: 57,928,106 (GRCm39) |
I210N |
probably damaging |
Het |
| Dgkb |
T |
A |
12: 38,032,009 (GRCm39) |
Y24N |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,449,136 (GRCm39) |
T504A |
possibly damaging |
Het |
| Fam135a |
A |
T |
1: 24,094,992 (GRCm39) |
D125E |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,433,664 (GRCm39) |
H345R |
possibly damaging |
Het |
| Gm12253 |
T |
C |
11: 58,325,379 (GRCm39) |
V17A |
probably damaging |
Het |
| Hars1 |
C |
T |
18: 36,903,265 (GRCm39) |
G355D |
probably damaging |
Het |
| Hpgd |
A |
T |
8: 56,772,097 (GRCm39) |
I190F |
probably benign |
Het |
| Ighv1-34 |
A |
T |
12: 114,815,003 (GRCm39) |
M53K |
probably benign |
Het |
| Ildr2 |
A |
T |
1: 166,096,939 (GRCm39) |
T53S |
possibly damaging |
Het |
| Ints5 |
T |
A |
19: 8,872,829 (GRCm39) |
C263S |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,224,008 (GRCm39) |
|
probably benign |
Het |
| Map3k2 |
T |
A |
18: 32,359,684 (GRCm39) |
C512* |
probably null |
Het |
| Parp4 |
G |
A |
14: 56,848,245 (GRCm39) |
R687Q |
possibly damaging |
Het |
| Plk2 |
T |
C |
13: 110,535,731 (GRCm39) |
S518P |
probably damaging |
Het |
| Prrc2b |
T |
G |
2: 32,114,057 (GRCm39) |
V2036G |
possibly damaging |
Het |
| Psg16 |
T |
A |
7: 16,827,631 (GRCm39) |
S196T |
probably benign |
Het |
| Psme3ip1 |
G |
T |
8: 95,302,380 (GRCm39) |
A217D |
possibly damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,450,770 (GRCm39) |
T56A |
possibly damaging |
Het |
| Retsat |
T |
C |
6: 72,581,978 (GRCm39) |
|
probably benign |
Het |
| Robo3 |
G |
T |
9: 37,335,949 (GRCm39) |
L484I |
probably damaging |
Het |
| Septin4 |
G |
T |
11: 87,458,555 (GRCm39) |
G310W |
possibly damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,317,705 (GRCm39) |
M446T |
possibly damaging |
Het |
| Slc38a1 |
G |
A |
15: 96,521,927 (GRCm39) |
T11M |
probably damaging |
Het |
| Tmem138 |
T |
C |
19: 10,548,952 (GRCm39) |
N106S |
probably benign |
Het |
| Traf1 |
G |
A |
2: 34,836,879 (GRCm39) |
|
probably benign |
Het |
| Tspan8 |
T |
C |
10: 115,675,913 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
T |
C |
15: 37,973,256 (GRCm39) |
E2615G |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,219,977 (GRCm39) |
I58T |
possibly damaging |
Het |
| Zc3h12c |
A |
G |
9: 52,027,611 (GRCm39) |
S603P |
probably damaging |
Het |
| Zfp746 |
A |
T |
6: 48,059,092 (GRCm39) |
S172R |
probably damaging |
Het |
|
| Other mutations in Ldha |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01456:Ldha
|
APN |
7 |
46,499,602 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02814:Ldha
|
APN |
7 |
46,500,315 (GRCm39) |
nonsense |
probably null |
|
|
R0530:Ldha
|
UTSW |
7 |
46,503,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1302:Ldha
|
UTSW |
7 |
46,497,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Ldha
|
UTSW |
7 |
46,496,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5327:Ldha
|
UTSW |
7 |
46,503,522 (GRCm39) |
missense |
probably benign |
|
|
R5413:Ldha
|
UTSW |
7 |
46,500,320 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5543:Ldha
|
UTSW |
7 |
46,500,314 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5763:Ldha
|
UTSW |
7 |
46,497,213 (GRCm39) |
intron |
probably benign |
|
|
R7232:Ldha
|
UTSW |
7 |
46,500,323 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7660:Ldha
|
UTSW |
7 |
46,499,681 (GRCm39) |
missense |
unknown |
|
|
R8155:Ldha
|
UTSW |
7 |
46,503,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8830:Ldha
|
UTSW |
7 |
46,499,702 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9025:Ldha
|
UTSW |
7 |
46,500,433 (GRCm39) |
missense |
unknown |
|
|
R9718:Ldha
|
UTSW |
7 |
46,504,456 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9775:Ldha
|
UTSW |
7 |
46,491,047 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation