Incidental Mutation 'R8238:Tdh'
| ID |
637475 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdh
|
| Ensembl Gene |
ENSMUSG00000021953 |
| Gene Name |
L-threonine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
067670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R8238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
63729796-63746541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 63733173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 206
(G206E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022522]
[ENSMUST00000165776]
[ENSMUST00000168488]
[ENSMUST00000168669]
|
| AlphaFold |
Q8K3F7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022522
AA Change: G206E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022522
Gene: ENSMUSG00000021953
AA Change: G206E
| 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 |
probably damaging
Transcript: ENSMUST00000165776
AA Change: G141E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129206
Gene: ENSMUSG00000021953
AA Change: G141E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kc0a_
|
42 |
149 |
3e-11 |
SMART |
|
PDB:3A4V|B
|
43 |
144 |
3e-18 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168488
AA Change: G141E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131068
Gene: ENSMUSG00000021953
AA Change: G141E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kc0a_
|
42 |
140 |
5e-11 |
SMART |
|
PDB:3A4V|B
|
43 |
148 |
1e-18 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168669
AA Change: G191E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132119
Gene: ENSMUSG00000021953
AA Change: G191E
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
G |
8: 44,103,993 (GRCm39) |
Y551H |
probably damaging |
Het |
| Ak1 |
T |
A |
2: 32,523,681 (GRCm39) |
V198D |
probably damaging |
Het |
| Alx1 |
C |
T |
10: 102,858,076 (GRCm39) |
D208N |
possibly damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,966,975 (GRCm39) |
E641G |
probably damaging |
Het |
| Atp5f1b |
T |
A |
10: 127,921,019 (GRCm39) |
I182N |
possibly damaging |
Het |
| Cabp5 |
T |
A |
7: 13,139,377 (GRCm39) |
M134K |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,221,764 (GRCm39) |
I227N |
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,235,668 (GRCm39) |
|
probably null |
Het |
| Dpyd |
G |
A |
3: 118,988,842 (GRCm39) |
|
probably null |
Het |
| Etl4 |
C |
T |
2: 20,811,342 (GRCm39) |
R1510* |
probably null |
Het |
| Fgr |
C |
T |
4: 132,724,832 (GRCm39) |
A311V |
probably damaging |
Het |
| Glipr1 |
C |
T |
10: 111,829,345 (GRCm39) |
|
probably null |
Het |
| Gm10799 |
A |
G |
2: 103,898,496 (GRCm39) |
F70L |
probably benign |
Het |
| Gm14412 |
A |
T |
2: 177,007,111 (GRCm39) |
H261Q |
unknown |
Het |
| Hey2 |
T |
A |
10: 30,716,659 (GRCm39) |
M35L |
probably benign |
Het |
| Hspb7 |
A |
G |
4: 141,149,857 (GRCm39) |
Y81C |
probably damaging |
Het |
| Ipo5 |
A |
T |
14: 121,172,652 (GRCm39) |
K570M |
probably damaging |
Het |
| Iqsec1 |
A |
T |
6: 90,666,912 (GRCm39) |
H404Q |
probably benign |
Het |
| Kif5b |
T |
A |
18: 6,227,619 (GRCm39) |
Q86L |
probably damaging |
Het |
| Lrrtm4 |
T |
A |
6: 79,999,668 (GRCm39) |
I360N |
probably damaging |
Het |
| Mup6 |
T |
A |
4: 60,003,634 (GRCm39) |
V29E |
probably damaging |
Het |
| Ncstn |
G |
T |
1: 171,900,043 (GRCm39) |
A277E |
probably damaging |
Het |
| Nsun3 |
A |
G |
16: 62,591,076 (GRCm39) |
V189A |
probably damaging |
Het |
| Oaf |
C |
T |
9: 43,150,642 (GRCm39) |
D77N |
probably damaging |
Het |
| Or13a27 |
A |
C |
7: 139,925,803 (GRCm39) |
L33W |
probably damaging |
Het |
| Or55b10 |
T |
C |
7: 102,143,827 (GRCm39) |
T52A |
possibly damaging |
Het |
| Pard6a |
A |
G |
8: 106,429,366 (GRCm39) |
D138G |
probably damaging |
Het |
| Ppp4r4 |
A |
C |
12: 103,557,066 (GRCm39) |
H434P |
probably benign |
Het |
| Sec23b |
T |
C |
2: 144,406,568 (GRCm39) |
I121T |
probably benign |
Het |
| Slc36a3 |
C |
T |
11: 55,022,433 (GRCm39) |
V254I |
probably benign |
Het |
| Slc7a14 |
C |
A |
3: 31,281,300 (GRCm39) |
V337L |
probably benign |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,640 (GRCm39) |
T92A |
probably benign |
Het |
| Vmn2r36 |
T |
G |
7: 7,892,015 (GRCm39) |
H431P |
probably benign |
Het |
| Vmn2r92 |
G |
T |
17: 18,405,278 (GRCm39) |
M807I |
probably benign |
Het |
| Vps11 |
T |
C |
9: 44,264,057 (GRCm39) |
T759A |
probably benign |
Het |
| Xdh |
G |
T |
17: 74,193,412 (GRCm39) |
Q1295K |
probably benign |
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 |
|
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 |
|
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'- TGTCCATAAGTGCTGTGCGAC -3'
(R):5'- TCAGGATTGCATAACGTTCTAGATG -3'
Sequencing Primer
(F):5'- CATAAGTGCTGTGCGACTACCATG -3'
(R):5'- GCATAACGTTCTAGATGTTGCAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation