Incidental Mutation 'IGL00476:Ldhd'
| ID |
12705 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ldhd
|
| Ensembl Gene |
ENSMUSG00000031958 |
| Gene Name |
lactate dehydrogenase D |
| Synonyms |
D8Bwg1320e, 4733401P21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
IGL00476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
112352250-112356968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 112355270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 238
(R238S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070004]
[ENSMUST00000095176]
[ENSMUST00000166859]
[ENSMUST00000168428]
[ENSMUST00000171182]
[ENSMUST00000172856]
|
| AlphaFold |
Q7TNG8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070004
AA Change: R238S
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000068086
Gene: ENSMUSG00000031958
AA Change: R238S
| 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: ENSMUST00000095176
|
| SMART Domains |
Protein: ENSMUSP00000092799
Gene: ENSMUSG00000033545
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
184 |
224 |
2.98e-3 |
SMART |
|
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
| Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
| Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
| Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
| Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
| Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
| Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
| Other mutations in Ldhd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5747:Ldhd
|
UTSW |
8 |
112,355,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation