Incidental Mutation 'IGL02047:Tdh'
| ID |
184960 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tdh
|
| Ensembl Gene |
ENSMUSG00000021953 |
| Gene Name |
L-threonine dehydrogenase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL02047
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
63729796-63746541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 63734407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 80
(H80Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022522]
[ENSMUST00000165776]
[ENSMUST00000168488]
[ENSMUST00000168669]
|
| AlphaFold |
Q8K3F7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022522
AA Change: H95Q
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000022522
Gene: ENSMUSG00000021953
AA Change: H95Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
56 |
252 |
3.3e-10 |
PFAM |
|
Pfam:Epimerase
|
58 |
294 |
5.8e-22 |
PFAM |
|
Pfam:3Beta_HSD
|
59 |
185 |
7e-9 |
PFAM |
|
Pfam:GDP_Man_Dehyd
|
59 |
359 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164515
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165776
AA Change: H80Q
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000129206
Gene: ENSMUSG00000021953
AA Change: H80Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kc0a_
|
42 |
149 |
3e-11 |
SMART |
|
PDB:3A4V|B
|
43 |
144 |
3e-18 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168488
AA Change: H80Q
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000131068
Gene: ENSMUSG00000021953
AA Change: H80Q
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kc0a_
|
42 |
140 |
5e-11 |
SMART |
|
PDB:3A4V|B
|
43 |
148 |
1e-18 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168669
AA Change: H80Q
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000132119
Gene: ENSMUSG00000021953
AA Change: H80Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RmlD_sub_bind
|
41 |
205 |
6.9e-10 |
PFAM |
|
Pfam:Polysacc_synt_2
|
43 |
164 |
2.2e-6 |
PFAM |
|
Pfam:Epimerase
|
43 |
200 |
9.2e-13 |
PFAM |
|
Pfam:3Beta_HSD
|
44 |
168 |
5.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170772
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
T |
6: 92,808,909 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,728,324 (GRCm39) |
N681S |
possibly damaging |
Het |
| Arpp19 |
T |
G |
9: 74,964,058 (GRCm39) |
S137A |
probably damaging |
Het |
| Bmp2 |
T |
C |
2: 133,402,896 (GRCm39) |
L149P |
probably damaging |
Het |
| Bpifb1 |
T |
C |
2: 154,044,536 (GRCm39) |
M1T |
probably null |
Het |
| Btbd7 |
T |
C |
12: 102,760,038 (GRCm39) |
S637G |
probably benign |
Het |
| Cyp51 |
T |
A |
5: 4,149,244 (GRCm39) |
H211L |
possibly damaging |
Het |
| Cyth1 |
C |
A |
11: 118,059,958 (GRCm39) |
Q333H |
probably damaging |
Het |
| Dennd5a |
G |
A |
7: 109,533,991 (GRCm39) |
T67M |
possibly damaging |
Het |
| Dse |
A |
T |
10: 34,038,841 (GRCm39) |
Y51* |
probably null |
Het |
| Dynlt3 |
A |
T |
X: 9,522,665 (GRCm39) |
Y76* |
probably null |
Het |
| Fabp12 |
T |
C |
3: 10,312,778 (GRCm39) |
|
probably benign |
Het |
| Galr1 |
A |
T |
18: 82,424,118 (GRCm39) |
L53Q |
probably damaging |
Het |
| Igkv4-70 |
A |
T |
6: 69,244,911 (GRCm39) |
D103E |
probably damaging |
Het |
| Il2 |
T |
C |
3: 37,180,000 (GRCm39) |
N19S |
probably benign |
Het |
| Jhy |
T |
C |
9: 40,828,476 (GRCm39) |
I477V |
probably benign |
Het |
| Kcnk4 |
A |
G |
19: 6,903,626 (GRCm39) |
S308P |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,534,562 (GRCm39) |
I299K |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,584,797 (GRCm39) |
I131N |
probably damaging |
Het |
| Msr1 |
A |
G |
8: 40,077,001 (GRCm39) |
V137A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,316,361 (GRCm39) |
V482E |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,246,108 (GRCm39) |
V162A |
probably benign |
Het |
| Phf8-ps |
C |
T |
17: 33,286,275 (GRCm39) |
V176M |
probably damaging |
Het |
| Plekhb1 |
A |
G |
7: 100,304,506 (GRCm39) |
V47A |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,552,258 (GRCm39) |
M418I |
probably benign |
Het |
| Slc24a4 |
T |
C |
12: 102,220,882 (GRCm39) |
F438L |
probably damaging |
Het |
| Slc38a5 |
G |
T |
X: 8,139,879 (GRCm39) |
V127L |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,834 (GRCm39) |
|
probably benign |
Het |
| Tshz3 |
A |
C |
7: 36,469,893 (GRCm39) |
K627N |
probably damaging |
Het |
| Usp28 |
C |
T |
9: 48,946,941 (GRCm39) |
P791S |
probably damaging |
Het |
| Wdr81 |
A |
G |
11: 75,336,332 (GRCm39) |
Y1686H |
probably damaging |
Het |
| Xpot |
G |
T |
10: 121,437,267 (GRCm39) |
|
probably benign |
Het |
| Zfand4 |
G |
A |
6: 116,291,889 (GRCm39) |
G627R |
probably damaging |
Het |
|
| Other mutations in Tdh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00843:Tdh
|
APN |
14 |
63,733,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Tdh
|
UTSW |
14 |
63,735,042 (GRCm39) |
splice site |
probably benign |
|
|
R1530:Tdh
|
UTSW |
14 |
63,733,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3748:Tdh
|
UTSW |
14 |
63,733,442 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4589:Tdh
|
UTSW |
14 |
63,733,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Tdh
|
UTSW |
14 |
63,731,205 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4647:Tdh
|
UTSW |
14 |
63,731,205 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4648:Tdh
|
UTSW |
14 |
63,731,205 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5038:Tdh
|
UTSW |
14 |
63,733,575 (GRCm39) |
nonsense |
probably null |
|
|
R5275:Tdh
|
UTSW |
14 |
63,733,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5295:Tdh
|
UTSW |
14 |
63,733,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6319:Tdh
|
UTSW |
14 |
63,733,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6825:Tdh
|
UTSW |
14 |
63,733,281 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7218:Tdh
|
UTSW |
14 |
63,733,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7528:Tdh
|
UTSW |
14 |
63,731,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7732:Tdh
|
UTSW |
14 |
63,733,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8238:Tdh
|
UTSW |
14 |
63,733,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Tdh
|
UTSW |
14 |
63,730,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9010:Tdh
|
UTSW |
14 |
63,737,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9043:Tdh
|
UTSW |
14 |
63,730,278 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation