Incidental Mutation 'R4593:Ldhd'
ID |
344217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ldhd
|
Ensembl Gene |
ENSMUSG00000031958 |
Gene Name |
lactate dehydrogenase D |
Synonyms |
D8Bwg1320e, 4733401P21Rik |
MMRRC Submission |
041809-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.261)
|
Stock # |
R4593 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
112352250-112356968 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 112355996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 129
(D129G)
|
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: D129G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068086 Gene: ENSMUSG00000031958 AA Change: D129G
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 |
0.7990 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (45/47) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
Atm |
G |
T |
9: 53,364,894 (GRCm39) |
A8E |
possibly damaging |
Het |
Atxn3 |
A |
T |
12: 101,889,436 (GRCm39) |
M333K |
probably benign |
Het |
Cd86 |
A |
G |
16: 36,426,918 (GRCm39) |
*310R |
probably null |
Het |
Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
Dgat1 |
C |
A |
15: 76,388,889 (GRCm39) |
R111S |
probably damaging |
Het |
Dner |
T |
C |
1: 84,673,449 (GRCm39) |
M1V |
probably null |
Het |
Dnhd1 |
G |
A |
7: 105,364,653 (GRCm39) |
D4240N |
probably benign |
Het |
Emp3 |
A |
G |
7: 45,568,777 (GRCm39) |
L27P |
probably damaging |
Het |
Glra3 |
G |
T |
8: 56,393,916 (GRCm39) |
G9V |
probably damaging |
Het |
Gpr149 |
A |
T |
3: 62,510,151 (GRCm39) |
|
probably benign |
Het |
Ighv1-9 |
T |
C |
12: 114,547,224 (GRCm39) |
T105A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,389,795 (GRCm39) |
Y1877H |
possibly damaging |
Het |
Med13l |
T |
C |
5: 118,880,625 (GRCm39) |
L1239P |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,768,191 (GRCm39) |
L480S |
possibly damaging |
Het |
Mkrn3 |
C |
T |
7: 62,068,552 (GRCm39) |
W413* |
probably null |
Het |
Myo7b |
A |
G |
18: 32,146,428 (GRCm39) |
V119A |
possibly damaging |
Het |
Nexn |
T |
A |
3: 151,958,553 (GRCm39) |
R113S |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,115,280 (GRCm39) |
Q703L |
probably benign |
Het |
Npr2 |
A |
G |
4: 43,647,323 (GRCm39) |
|
probably benign |
Het |
Nub1 |
A |
G |
5: 24,914,119 (GRCm39) |
Y624C |
probably damaging |
Het |
Obscn |
A |
C |
11: 59,024,075 (GRCm39) |
S532A |
probably damaging |
Het |
Or1e33 |
T |
A |
11: 73,738,140 (GRCm39) |
K270N |
probably benign |
Het |
Or9g20 |
A |
G |
2: 85,630,008 (GRCm39) |
L202P |
probably damaging |
Het |
Panx2 |
T |
C |
15: 88,952,118 (GRCm39) |
I195T |
probably damaging |
Het |
Parp11 |
T |
C |
6: 127,451,262 (GRCm39) |
I104T |
probably benign |
Het |
Pkd1l1 |
G |
T |
11: 8,851,253 (GRCm39) |
D726E |
probably damaging |
Het |
Pom121l2 |
C |
T |
13: 22,168,623 (GRCm39) |
R965W |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,525,101 (GRCm39) |
K502E |
probably damaging |
Het |
Rasa1 |
T |
C |
13: 85,386,340 (GRCm39) |
|
probably null |
Het |
Sva |
T |
C |
6: 42,019,592 (GRCm39) |
S151P |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,091,944 (GRCm39) |
N1564D |
possibly damaging |
Het |
Unk |
T |
C |
11: 115,939,882 (GRCm39) |
I129T |
probably benign |
Het |
Urb1 |
T |
C |
16: 90,584,332 (GRCm39) |
D550G |
probably damaging |
Het |
Vmn1r194 |
T |
A |
13: 22,428,461 (GRCm39) |
M26K |
possibly damaging |
Het |
Vmn1r59 |
A |
T |
7: 5,457,686 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn1r88 |
A |
G |
7: 12,911,769 (GRCm39) |
K42E |
probably damaging |
Het |
Zbtb24 |
A |
G |
10: 41,327,953 (GRCm39) |
R280G |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGGGTCTAGAGAATGAAATGC -3'
(R):5'- CCATCCCAGAGCTTTGGTATG -3'
Sequencing Primer
(F):5'- AACTGCAGAGGCCCTTTC -3'
(R):5'- ATGGTTGCTGCAGGCCTC -3'
|
Posted On |
2015-09-25 |