Incidental Mutation 'IGL02273:Ldhd'
| ID |
287231 |
| 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? |
Probably non essential
(E-score: 0.248)
|
| Stock # |
IGL02273
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
112352250-112356968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 112353922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 426
(E426G)
|
| 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 benign
Transcript: ENSMUST00000070004
AA Change: E426G
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000068086
Gene: ENSMUSG00000031958
AA Change: E426G
| 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: ENSMUST00000173909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173521
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173922
|
| 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: 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: ENSMUST00000174376
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
T |
C |
7: 126,429,931 (GRCm39) |
T89A |
probably benign |
Het |
| Amhr2 |
T |
C |
15: 102,360,924 (GRCm39) |
V353A |
probably benign |
Het |
| Bbox1 |
A |
T |
2: 110,105,961 (GRCm39) |
Y194* |
probably null |
Het |
| Bltp1 |
T |
A |
3: 36,975,586 (GRCm39) |
|
probably benign |
Het |
| Bnipl |
C |
A |
3: 95,153,086 (GRCm39) |
R131L |
possibly damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,643,974 (GRCm39) |
S1016P |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,867,657 (GRCm39) |
I88M |
possibly damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,338,278 (GRCm39) |
Y89N |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,458,122 (GRCm39) |
N332K |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,163,671 (GRCm39) |
Q348* |
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,550,494 (GRCm39) |
I3264N |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,763,808 (GRCm39) |
|
probably null |
Het |
| Farsa |
C |
T |
8: 85,594,455 (GRCm39) |
A368V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,403,368 (GRCm39) |
Y40H |
probably damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,734,208 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,126,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr135 |
A |
G |
12: 72,116,732 (GRCm39) |
I345T |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,314,389 (GRCm39) |
V3616I |
probably benign |
Het |
| Kif9 |
A |
T |
9: 110,339,538 (GRCm39) |
K460M |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,310,968 (GRCm39) |
C444S |
probably benign |
Het |
| Pfkfb2 |
G |
A |
1: 130,635,319 (GRCm39) |
R81C |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,327 (GRCm39) |
V526A |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,511,874 (GRCm39) |
V951E |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,226,809 (GRCm39) |
L1026Q |
probably damaging |
Het |
| Pms1 |
T |
C |
1: 53,247,156 (GRCm39) |
N263S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,226,990 (GRCm39) |
F659I |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,075,108 (GRCm39) |
I69M |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Senp5 |
T |
C |
16: 31,808,690 (GRCm39) |
H161R |
probably benign |
Het |
| Spc25 |
A |
G |
2: 69,035,273 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,321 (GRCm39) |
V536A |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,476,772 (GRCm39) |
S84P |
possibly damaging |
Het |
| Tacc1 |
A |
C |
8: 25,649,797 (GRCm39) |
L768V |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,986,531 (GRCm39) |
I5N |
probably benign |
Het |
| Tmc2 |
A |
G |
2: 130,071,126 (GRCm39) |
D285G |
probably damaging |
Het |
| Tns3 |
A |
T |
11: 8,384,531 (GRCm39) |
V1429E |
probably damaging |
Het |
| Trmt44 |
T |
C |
5: 35,731,457 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,199,889 (GRCm39) |
R4591H |
possibly damaging |
Het |
| Zfc3h1 |
T |
A |
10: 115,263,004 (GRCm39) |
D1739E |
probably benign |
Het |
| Zfp26 |
A |
G |
9: 20,352,744 (GRCm39) |
V107A |
probably 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 |
|
|
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 |
2015-04-16 |
Incidental Mutation