Incidental Mutation 'R5796:Ldhd'
| ID |
447235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ldhd
|
| Ensembl Gene |
ENSMUSG00000031958 |
| Gene Name |
lactate dehydrogenase D |
| Synonyms |
D8Bwg1320e, 4733401P21Rik |
| MMRRC Submission |
043387-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
R5796 (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 112353722 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 464
(T464A)
|
| 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: T464A
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000068086
Gene: ENSMUSG00000031958
AA Change: T464A
| 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: ENSMUST00000174376
|
| 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 |
|
| Meta Mutation Damage Score |
0.1061 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
93% (51/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,215,077 (GRCm39) |
T9A |
possibly damaging |
Het |
| Abcd3 |
G |
A |
3: 121,578,147 (GRCm39) |
R160W |
probably damaging |
Het |
| Ap3d1 |
G |
T |
10: 80,549,871 (GRCm39) |
T758K |
possibly damaging |
Het |
| Ate1 |
T |
C |
7: 130,068,998 (GRCm39) |
Y423C |
probably damaging |
Het |
| Bsn |
C |
T |
9: 108,003,223 (GRCm39) |
G394D |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,788,073 (GRCm39) |
D1599G |
probably damaging |
Het |
| Cd33 |
A |
G |
7: 43,182,480 (GRCm39) |
|
probably null |
Het |
| Chct1 |
A |
G |
11: 85,064,101 (GRCm39) |
T81A |
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,611,111 (GRCm39) |
N154D |
possibly damaging |
Het |
| Crocc |
TCTGAGCTGCTGAGCTGC |
TCTGAGCTGC |
4: 140,769,118 (GRCm39) |
|
probably null |
Het |
| Cts3 |
A |
T |
13: 61,716,517 (GRCm39) |
Y40N |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,089,823 (GRCm39) |
N1197D |
probably benign |
Het |
| Dclre1b |
G |
A |
3: 103,714,773 (GRCm39) |
Q77* |
probably null |
Het |
| Dsc3 |
T |
A |
18: 20,104,558 (GRCm39) |
M590L |
probably benign |
Het |
| Efcab14 |
A |
T |
4: 115,603,780 (GRCm39) |
I153F |
probably damaging |
Het |
| Fbxo42 |
T |
C |
4: 140,927,100 (GRCm39) |
V460A |
probably benign |
Het |
| Fgl1 |
T |
G |
8: 41,652,796 (GRCm39) |
|
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,272,782 (GRCm39) |
S1697P |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm15056 |
C |
A |
8: 21,391,998 (GRCm39) |
|
probably benign |
Het |
| Gm17409 |
T |
A |
2: 58,361,034 (GRCm39) |
|
probably benign |
Het |
| Gm20730 |
A |
G |
6: 43,058,464 (GRCm39) |
L116P |
probably damaging |
Het |
| Grb2 |
T |
G |
11: 115,536,698 (GRCm39) |
H184P |
probably benign |
Het |
| Hepacam2 |
G |
C |
6: 3,466,200 (GRCm39) |
|
probably null |
Het |
| Hsd3b9 |
A |
T |
3: 98,354,168 (GRCm39) |
D110E |
probably benign |
Het |
| Igkv4-55 |
T |
A |
6: 69,584,432 (GRCm39) |
K60M |
possibly damaging |
Het |
| Itfg1 |
T |
A |
8: 86,445,522 (GRCm39) |
H603L |
probably damaging |
Het |
| Katna1 |
C |
A |
10: 7,636,575 (GRCm39) |
D366E |
probably damaging |
Het |
| Klk1b26 |
A |
G |
7: 43,665,752 (GRCm39) |
Y188C |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,411,133 (GRCm39) |
S1360P |
unknown |
Het |
| Nckipsd |
T |
G |
9: 108,688,813 (GRCm39) |
V116G |
probably benign |
Het |
| Nhsl1 |
C |
T |
10: 18,399,998 (GRCm39) |
S374L |
probably benign |
Het |
| Oxt |
G |
A |
2: 130,418,533 (GRCm39) |
G48D |
probably damaging |
Het |
| Pramel21 |
A |
G |
4: 143,341,778 (GRCm39) |
N69S |
probably benign |
Het |
| Ptprk |
C |
T |
10: 28,259,571 (GRCm39) |
T337I |
probably damaging |
Het |
| Rad54b |
A |
T |
4: 11,615,446 (GRCm39) |
D818V |
probably benign |
Het |
| Rbpjl |
T |
C |
2: 164,252,168 (GRCm39) |
|
probably benign |
Het |
| Recql5 |
T |
A |
11: 115,818,691 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
A |
T |
9: 37,322,970 (GRCm39) |
D830V |
probably benign |
Het |
| Rps6kb1 |
C |
T |
11: 86,402,677 (GRCm39) |
G339S |
probably benign |
Het |
| Rtel1 |
G |
A |
2: 180,982,299 (GRCm39) |
E350K |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,434,832 (GRCm39) |
S368P |
possibly damaging |
Het |
| Smad5 |
A |
G |
13: 56,871,645 (GRCm39) |
H80R |
probably damaging |
Het |
| Sppl2c |
T |
A |
11: 104,078,619 (GRCm39) |
M473K |
probably benign |
Het |
| Tbrg1 |
A |
G |
9: 37,563,871 (GRCm39) |
|
probably benign |
Het |
| Tcf7 |
A |
G |
11: 52,152,354 (GRCm39) |
I65T |
probably benign |
Het |
| Tgm2 |
T |
C |
2: 157,960,824 (GRCm39) |
D618G |
probably benign |
Het |
| Tuba3b |
C |
T |
6: 145,565,408 (GRCm39) |
T292I |
probably damaging |
Het |
| Vmn1r63 |
G |
A |
7: 5,806,140 (GRCm39) |
S164L |
probably benign |
Het |
| Zfp382 |
A |
G |
7: 29,832,774 (GRCm39) |
K142E |
probably damaging |
Het |
| Zmym3 |
G |
A |
X: 100,459,406 (GRCm39) |
P308L |
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 |
|
R5747:Ldhd
|
UTSW |
8 |
112,355,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACCTTCATCTTGAGCCCCAG -3'
(R):5'- TTTGCAGAAAATCTGGGCAGG -3'
Sequencing Primer
(F):5'- GATAGATAGATAGCATCAGCCCTTC -3'
(R):5'- CTGGGCAGGTGAGGACTGTAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation