Incidental Mutation 'IGL03111:Ldhd'
| ID |
419200 |
| 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 # |
IGL03111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
112352250-112356968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 112353797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 439
(C439G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070004]
[ENSMUST00000095176]
[ENSMUST00000166859]
[ENSMUST00000168428]
[ENSMUST00000171182]
[ENSMUST00000172856]
[ENSMUST00000173506]
[ENSMUST00000174333]
[ENSMUST00000174454]
|
| AlphaFold |
Q7TNG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070004
AA Change: C439G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068086
Gene: ENSMUSG00000031958
AA Change: C439G
| 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 |
probably benign
Transcript: ENSMUST00000173506
|
| SMART Domains |
Protein: ENSMUSP00000133993
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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174333
|
| SMART Domains |
Protein: ENSMUSP00000134634
Gene: ENSMUSG00000033545
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
84 |
124 |
2.98e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174376
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174454
|
| SMART Domains |
Protein: ENSMUSP00000133519
Gene: ENSMUSG00000033545
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
22 |
62 |
2.98e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173922
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,040 (GRCm39) |
D523G |
probably benign |
Het |
| Alkbh1 |
A |
C |
12: 87,480,907 (GRCm39) |
H176Q |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arid4a |
G |
A |
12: 71,086,740 (GRCm39) |
A193T |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,538,684 (GRCm39) |
S492P |
possibly damaging |
Het |
| Cep170b |
C |
T |
12: 112,701,613 (GRCm39) |
T164I |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,692 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Clybl |
C |
T |
14: 122,639,395 (GRCm39) |
P320S |
probably damaging |
Het |
| Cpne9 |
T |
C |
6: 113,277,571 (GRCm39) |
I430T |
possibly damaging |
Het |
| Cyc1 |
T |
G |
15: 76,229,072 (GRCm39) |
S113A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,493,066 (GRCm39) |
|
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,462,910 (GRCm39) |
D489G |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,473,809 (GRCm39) |
D15G |
probably damaging |
Het |
| Ephb4 |
C |
A |
5: 137,370,767 (GRCm39) |
F933L |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,816 (GRCm39) |
D856E |
possibly damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,844 (GRCm39) |
D208V |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,171,988 (GRCm39) |
S719R |
probably benign |
Het |
| Lipo3 |
C |
T |
19: 33,559,637 (GRCm39) |
V78I |
probably damaging |
Het |
| Mterf2 |
A |
T |
10: 84,955,786 (GRCm39) |
Y279* |
probably null |
Het |
| Myo9a |
G |
T |
9: 59,734,526 (GRCm39) |
A703S |
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,465,745 (GRCm39) |
T76S |
possibly damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,330,816 (GRCm39) |
L859Q |
probably damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,353,978 (GRCm38) |
|
noncoding transcript |
Het |
| Or1s2 |
T |
A |
19: 13,758,343 (GRCm39) |
Y122* |
probably null |
Het |
| Or51g2 |
G |
A |
7: 102,622,738 (GRCm39) |
R154C |
probably damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,947 (GRCm39) |
T149I |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,169,788 (GRCm39) |
K113M |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,202 (GRCm39) |
Y823N |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,327,653 (GRCm39) |
I856V |
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,032,755 (GRCm39) |
S180T |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,921 (GRCm39) |
N169I |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,833,608 (GRCm39) |
T996A |
probably damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,149,998 (GRCm39) |
Y91H |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,049,369 (GRCm39) |
Y772C |
probably damaging |
Het |
| Thbd |
T |
A |
2: 148,248,392 (GRCm39) |
E492V |
probably benign |
Het |
| Thra |
A |
G |
11: 98,651,855 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,867,225 (GRCm39) |
S403P |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,356,063 (GRCm39) |
S444P |
probably benign |
Het |
| Zfp946 |
A |
G |
17: 22,673,537 (GRCm39) |
H97R |
possibly damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation