Incidental Mutation 'R5747:Ldhd'
ID |
445821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ldhd
|
Ensembl Gene |
ENSMUSG00000031958 |
Gene Name |
lactate dehydrogenase D |
Synonyms |
D8Bwg1320e, 4733401P21Rik |
MMRRC Submission |
043354-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.248)
|
Stock # |
R5747 (G1)
|
Quality Score |
215 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
112352250-112356968 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112355703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 182
(T182A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068086
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070004]
[ENSMUST00000166859]
[ENSMUST00000168428]
[ENSMUST00000171182]
[ENSMUST00000172856]
|
AlphaFold |
Q7TNG8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070004
AA Change: T182A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068086 Gene: ENSMUSG00000031958 AA Change: T182A
Domain | Start | End | E-Value | Type |
Pfam:FAD_binding_4
|
66 |
203 |
5.2e-38 |
PFAM |
Pfam:FAD-oxidase_C
|
242 |
483 |
3.5e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166859
|
SMART Domains |
Protein: ENSMUSP00000132939 Gene: ENSMUSG00000033545
Domain | Start | End | E-Value | Type |
RING
|
84 |
124 |
2.98e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168428
|
SMART Domains |
Protein: ENSMUSP00000126684 Gene: ENSMUSG00000033545
Domain | Start | End | E-Value | Type |
RING
|
184 |
224 |
2.98e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171182
|
SMART Domains |
Protein: ENSMUSP00000127956 Gene: ENSMUSG00000033545
Domain | Start | End | E-Value | Type |
RING
|
152 |
192 |
2.98e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172856
|
SMART Domains |
Protein: ENSMUSP00000133309 Gene: ENSMUSG00000033545
Domain | Start | End | E-Value | Type |
RING
|
184 |
224 |
2.98e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173521
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173909
|
Meta Mutation Damage Score |
0.5685 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (54/54) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
A |
T |
1: 25,865,643 (GRCm39) |
Y67N |
probably damaging |
Het |
Akap8l |
T |
C |
17: 32,564,352 (GRCm39) |
T12A |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,466,836 (GRCm39) |
V1620A |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,735,400 (GRCm39) |
|
probably benign |
Het |
Ankrd34c |
C |
T |
9: 89,611,814 (GRCm39) |
V176M |
possibly damaging |
Het |
Arhgap39 |
C |
T |
15: 76,625,735 (GRCm39) |
D190N |
possibly damaging |
Het |
Cbl |
A |
G |
9: 44,112,416 (GRCm39) |
L93P |
probably damaging |
Het |
Crebl2 |
C |
T |
6: 134,828,103 (GRCm39) |
L92F |
probably damaging |
Het |
Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
Dzip1l |
T |
A |
9: 99,521,862 (GRCm39) |
|
probably null |
Het |
Echs1 |
T |
C |
7: 139,691,725 (GRCm39) |
|
probably benign |
Het |
Eif1ad16 |
C |
T |
12: 87,985,366 (GRCm39) |
C59Y |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,483,520 (GRCm39) |
I163T |
probably damaging |
Het |
Fdft1 |
A |
G |
14: 63,384,288 (GRCm39) |
S388P |
probably damaging |
Het |
Gbx2 |
A |
G |
1: 89,856,437 (GRCm39) |
S318P |
probably damaging |
Het |
Gkn1 |
T |
A |
6: 87,323,319 (GRCm39) |
T165S |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
Gm5093 |
T |
G |
17: 46,750,916 (GRCm39) |
E37A |
possibly damaging |
Het |
Gm527 |
A |
T |
12: 64,967,620 (GRCm39) |
N14I |
probably damaging |
Het |
Gnaz |
C |
T |
10: 74,827,235 (GRCm39) |
|
probably benign |
Het |
Grik2 |
T |
C |
10: 49,399,870 (GRCm39) |
T287A |
probably benign |
Het |
Gtf2h4 |
T |
C |
17: 35,981,273 (GRCm39) |
Y220C |
possibly damaging |
Het |
Igkv8-28 |
T |
C |
6: 70,121,141 (GRCm39) |
E2G |
probably benign |
Het |
Itgbl1 |
T |
A |
14: 124,209,576 (GRCm39) |
Y318* |
probably null |
Het |
Kcnh5 |
T |
C |
12: 74,945,194 (GRCm39) |
E685G |
probably benign |
Het |
Kctd18 |
A |
T |
1: 58,001,183 (GRCm39) |
|
probably benign |
Het |
Ldhal6b |
A |
C |
17: 5,468,094 (GRCm39) |
V280G |
probably damaging |
Het |
Lman2l |
T |
C |
1: 36,464,038 (GRCm39) |
D272G |
possibly damaging |
Het |
Lrrc63 |
T |
C |
14: 75,363,904 (GRCm39) |
T76A |
probably benign |
Het |
Map3k3 |
A |
G |
11: 106,041,236 (GRCm39) |
T402A |
probably benign |
Het |
Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
Mob4 |
A |
G |
1: 55,187,737 (GRCm39) |
M68V |
probably damaging |
Het |
Or1j15 |
A |
T |
2: 36,458,979 (GRCm39) |
Y123F |
probably damaging |
Het |
Rassf8 |
A |
G |
6: 145,761,541 (GRCm39) |
E289G |
probably benign |
Het |
Rnf17 |
T |
C |
14: 56,703,276 (GRCm39) |
|
probably null |
Het |
Rp9 |
A |
G |
9: 22,359,960 (GRCm39) |
|
probably benign |
Het |
Rrm2b |
T |
C |
15: 37,927,634 (GRCm39) |
Q92R |
probably benign |
Het |
Sema6d |
C |
T |
2: 124,506,867 (GRCm39) |
P879S |
probably damaging |
Het |
Slc27a2 |
T |
A |
2: 126,406,658 (GRCm39) |
M114K |
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,248,011 (GRCm39) |
Y521N |
probably damaging |
Het |
Slc6a4 |
A |
T |
11: 76,901,337 (GRCm39) |
N24I |
probably damaging |
Het |
Spata13 |
T |
A |
14: 60,984,952 (GRCm39) |
D815E |
probably benign |
Het |
Spocd1 |
A |
G |
4: 129,848,738 (GRCm39) |
D656G |
probably damaging |
Het |
Susd1 |
T |
A |
4: 59,424,108 (GRCm39) |
N39I |
probably damaging |
Het |
Vps13d |
G |
A |
4: 144,894,853 (GRCm39) |
T417I |
probably benign |
Het |
Wdr31 |
C |
T |
4: 62,381,637 (GRCm39) |
V65I |
probably damaging |
Het |
Zfp783 |
T |
C |
6: 47,925,829 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ldhd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00476:Ldhd
|
APN |
8 |
112,355,270 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01372:Ldhd
|
APN |
8 |
112,355,032 (GRCm39) |
missense |
probably benign |
|
IGL02273:Ldhd
|
APN |
8 |
112,353,922 (GRCm39) |
missense |
probably benign |
0.37 |
IGL03111:Ldhd
|
APN |
8 |
112,353,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Ldhd
|
UTSW |
8 |
112,356,309 (GRCm39) |
missense |
probably benign |
0.00 |
R0630:Ldhd
|
UTSW |
8 |
112,353,934 (GRCm39) |
missense |
probably benign |
0.00 |
R1468:Ldhd
|
UTSW |
8 |
112,353,925 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1468:Ldhd
|
UTSW |
8 |
112,353,925 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1682:Ldhd
|
UTSW |
8 |
112,354,745 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2023:Ldhd
|
UTSW |
8 |
112,356,578 (GRCm39) |
missense |
probably damaging |
0.96 |
R2128:Ldhd
|
UTSW |
8 |
112,353,680 (GRCm39) |
missense |
probably benign |
0.37 |
R2131:Ldhd
|
UTSW |
8 |
112,355,169 (GRCm39) |
splice site |
probably null |
|
R2180:Ldhd
|
UTSW |
8 |
112,356,018 (GRCm39) |
missense |
probably benign |
0.05 |
R4593:Ldhd
|
UTSW |
8 |
112,355,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R5153:Ldhd
|
UTSW |
8 |
112,353,724 (GRCm39) |
missense |
probably benign |
0.06 |
R5796:Ldhd
|
UTSW |
8 |
112,353,722 (GRCm39) |
missense |
probably benign |
0.03 |
R6856:Ldhd
|
UTSW |
8 |
112,356,906 (GRCm39) |
missense |
probably benign |
0.17 |
R7916:Ldhd
|
UTSW |
8 |
112,356,023 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9003:Ldhd
|
UTSW |
8 |
112,356,894 (GRCm39) |
missense |
probably benign |
|
R9334:Ldhd
|
UTSW |
8 |
112,353,980 (GRCm39) |
missense |
probably benign |
0.01 |
R9430:Ldhd
|
UTSW |
8 |
112,356,680 (GRCm39) |
missense |
possibly damaging |
0.89 |
Z1176:Ldhd
|
UTSW |
8 |
112,354,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTTTAATGACCCAGAGAGGC -3'
(R):5'- TGGACTAACCACAGAGTACCTG -3'
Sequencing Primer
(F):5'- TTTAATGACCCAGAGAGGCCTTGC -3'
(R):5'- CCACAGAGTACCTGACCGAG -3'
|
Posted On |
2016-11-21 |