Incidental Mutation 'R5295:Tdh'
| ID |
405376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tdh
|
| Ensembl Gene |
ENSMUSG00000021953 |
| Gene Name |
L-threonine dehydrogenase |
| Synonyms |
|
| MMRRC Submission |
042878-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R5295 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
63729796-63746541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63733558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 110
(Y110C)
|
| 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: Y110C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022522
Gene: ENSMUSG00000021953
AA Change: Y110C
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129206
Gene: ENSMUSG00000021953
| 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
|
| SMART Domains |
Protein: ENSMUSP00000131068
Gene: ENSMUSG00000021953
| 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: Y95C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132119
Gene: ENSMUSG00000021953
AA Change: Y95C
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
T |
18: 65,438,109 (GRCm39) |
E1095K |
probably damaging |
Het |
| Alpl |
T |
C |
4: 137,476,919 (GRCm39) |
T245A |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,832 (GRCm39) |
H378R |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,618,777 (GRCm39) |
|
probably null |
Het |
| Atp5f1c |
T |
C |
2: 10,073,544 (GRCm39) |
R10G |
possibly damaging |
Het |
| Cbln3 |
T |
C |
14: 56,120,920 (GRCm39) |
|
probably null |
Het |
| Ccr10 |
C |
T |
11: 101,065,111 (GRCm39) |
V140M |
possibly damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,051 (GRCm39) |
H42Q |
possibly damaging |
Het |
| Commd5 |
C |
A |
15: 76,785,152 (GRCm39) |
T183K |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,239 (GRCm39) |
E493G |
possibly damaging |
Het |
| Ears2 |
T |
C |
7: 121,647,421 (GRCm39) |
R288G |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,662,714 (GRCm39) |
P273L |
possibly damaging |
Het |
| Fam186b |
T |
A |
15: 99,181,755 (GRCm39) |
I148F |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,270,134 (GRCm39) |
Y79C |
probably damaging |
Het |
| Gad1-ps |
A |
G |
10: 99,280,751 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14325 |
G |
A |
2: 177,474,777 (GRCm39) |
H102Y |
possibly damaging |
Het |
| Ighv1-77 |
T |
A |
12: 115,825,528 (GRCm39) |
S104C |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,977,987 (GRCm39) |
D17G |
unknown |
Het |
| Lmtk3 |
G |
A |
7: 45,440,722 (GRCm39) |
D243N |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,876,376 (GRCm39) |
K571N |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,690,454 (GRCm39) |
E32G |
probably damaging |
Het |
| Ly6f |
A |
G |
15: 75,143,488 (GRCm39) |
Q65R |
probably benign |
Het |
| Perm1 |
T |
C |
4: 156,301,975 (GRCm39) |
L173P |
probably benign |
Het |
| Plvap |
T |
C |
8: 71,964,314 (GRCm39) |
Q16R |
probably benign |
Het |
| Prb1c |
T |
G |
6: 132,338,840 (GRCm39) |
Q126P |
unknown |
Het |
| Prl7d1 |
A |
T |
13: 27,893,230 (GRCm39) |
V227D |
probably damaging |
Het |
| Prss54 |
T |
C |
8: 96,291,106 (GRCm39) |
T165A |
probably damaging |
Het |
| Psrc1 |
A |
G |
3: 108,293,675 (GRCm39) |
I195V |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,642 (GRCm39) |
T2284S |
probably benign |
Het |
| Serpina3c |
T |
C |
12: 104,114,637 (GRCm39) |
E333G |
probably damaging |
Het |
| Serpinb6c |
A |
G |
13: 34,077,800 (GRCm39) |
F190S |
probably damaging |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,986 (GRCm39) |
D90N |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,346 (GRCm39) |
L1255* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,318,508 (GRCm39) |
K506R |
probably damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,656,771 (GRCm39) |
L800P |
probably damaging |
Het |
| Znhit6 |
A |
G |
3: 145,306,248 (GRCm39) |
D251G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTACCAAGAGCCGGAACAACTG -3'
(R):5'- TGGCTGTTAACCCAGTGCTC -3'
Sequencing Primer
(F):5'- AACTGGCCCCCACTGAG -3'
(R):5'- CTGTTAACCCAGTGCTCAGAAGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation