Incidental Mutation 'R6319:Tdh'
| ID |
509351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdh
|
| Ensembl Gene |
ENSMUSG00000021953 |
| Gene Name |
L-threonine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
044474-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R6319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
63729796-63746541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63733186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 137
(T137A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022522]
[ENSMUST00000165776]
[ENSMUST00000168488]
[ENSMUST00000168669]
|
| AlphaFold |
Q8K3F7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022522
AA Change: T202A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022522
Gene: ENSMUSG00000021953
AA Change: T202A
| 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: T137A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129206
Gene: ENSMUSG00000021953
AA Change: T137A
| 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: T137A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000131068
Gene: ENSMUSG00000021953
AA Change: T137A
| 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: T187A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132119
Gene: ENSMUSG00000021953
AA Change: T187A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
C |
6: 58,651,723 (GRCm39) |
S372P |
probably benign |
Het |
| Adam34 |
A |
G |
8: 44,104,952 (GRCm39) |
I231T |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,307,366 (GRCm39) |
H840L |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,750,978 (GRCm39) |
T470A |
probably benign |
Het |
| Atp1a2 |
C |
G |
1: 172,116,903 (GRCm39) |
R238P |
probably damaging |
Het |
| B430306N03Rik |
A |
T |
17: 48,623,771 (GRCm39) |
Q24L |
probably damaging |
Het |
| Bmp6 |
A |
T |
13: 38,530,390 (GRCm39) |
H161L |
probably benign |
Het |
| Cdca8 |
C |
A |
4: 124,815,087 (GRCm39) |
D177Y |
possibly damaging |
Het |
| Col14a1 |
A |
G |
15: 55,379,565 (GRCm39) |
T1693A |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,481,167 (GRCm39) |
S1230P |
probably damaging |
Het |
| Dcaf13 |
A |
G |
15: 39,007,067 (GRCm39) |
T334A |
probably benign |
Het |
| Dhx32 |
A |
C |
7: 133,338,955 (GRCm39) |
V360G |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,985,367 (GRCm39) |
T205A |
probably benign |
Het |
| Dxo |
A |
G |
17: 35,057,367 (GRCm39) |
E253G |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,523,929 (GRCm39) |
Y747C |
probably damaging |
Het |
| Gga2 |
T |
C |
7: 121,601,389 (GRCm39) |
E238G |
possibly damaging |
Het |
| Gpn3 |
C |
T |
5: 122,510,638 (GRCm39) |
|
probably benign |
Het |
| Grik4 |
A |
T |
9: 42,477,632 (GRCm39) |
M518K |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,933,000 (GRCm39) |
S841C |
probably damaging |
Het |
| Itfg1 |
G |
T |
8: 86,567,258 (GRCm39) |
T37K |
probably damaging |
Het |
| Kcnn4 |
T |
A |
7: 24,081,165 (GRCm39) |
M301K |
possibly damaging |
Het |
| Kel |
C |
A |
6: 41,679,381 (GRCm39) |
E127D |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,310,666 (GRCm39) |
Y569C |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,518,798 (GRCm39) |
V89D |
possibly damaging |
Het |
| Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
| Mnd1 |
A |
G |
3: 84,049,071 (GRCm39) |
S2P |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,053,023 (GRCm39) |
|
probably null |
Het |
| Or51af1 |
T |
C |
7: 103,141,932 (GRCm39) |
E51G |
possibly damaging |
Het |
| Or5h23 |
A |
G |
16: 58,906,384 (GRCm39) |
I154T |
probably benign |
Het |
| Or8g17 |
A |
G |
9: 38,930,810 (GRCm39) |
V9A |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,820,035 (GRCm39) |
V60M |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,961,093 (GRCm39) |
Y388N |
probably benign |
Het |
| Prr18 |
G |
T |
17: 8,560,143 (GRCm39) |
V100F |
probably damaging |
Het |
| Rnf25 |
T |
C |
1: 74,634,890 (GRCm39) |
Y44C |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 75,047,048 (GRCm39) |
L1247P |
probably damaging |
Het |
| Spata31e2 |
G |
A |
1: 26,724,482 (GRCm39) |
R233C |
probably benign |
Het |
| Tmem200a |
A |
G |
10: 25,869,393 (GRCm39) |
V292A |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,803,758 (GRCm39) |
V1116A |
probably benign |
Het |
| Ubr4 |
G |
A |
4: 139,136,200 (GRCm39) |
E942K |
possibly damaging |
Het |
| Unc5b |
G |
A |
10: 60,614,580 (GRCm39) |
A239V |
probably damaging |
Het |
| Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
| Vmn2r115 |
A |
G |
17: 23,566,877 (GRCm39) |
E463G |
possibly 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 |
|
IGL02047:Tdh
|
APN |
14 |
63,734,407 (GRCm39) |
missense |
probably benign |
0.07 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAGCGTCTTACCACTTGAC -3'
(R):5'- TGTGTCCTTAGCCAGAGATGTG -3'
Sequencing Primer
(F):5'- GCGTCTTACCACTTGACAAACAC -3'
(R):5'- AGATTGTTTGTGCCCAGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation