Incidental Mutation 'IGL01724:Dhtkd1'
| ID |
105206 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dhtkd1
|
| Ensembl Gene |
ENSMUSG00000025815 |
| Gene Name |
dehydrogenase E1 and transketolase domain containing 1 |
| Synonyms |
C330018I04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01724
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
5901030-5947648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5919651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 577
(T577A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026924]
[ENSMUST00000095147]
|
| AlphaFold |
A2ATU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026924
AA Change: T577A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: T577A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
Pfam:E1_dh
|
193 |
505 |
2.4e-44 |
PFAM |
|
Blast:Transket_pyr
|
523 |
558 |
9e-8 |
BLAST |
|
Transket_pyr
|
570 |
773 |
2.1e-54 |
SMART |
|
Blast:Transket_pyr
|
775 |
805 |
7e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095147
AA Change: T577A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: T577A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
Pfam:E1_dh
|
193 |
505 |
2.4e-44 |
PFAM |
|
Blast:Transket_pyr
|
523 |
558 |
9e-8 |
BLAST |
|
Transket_pyr
|
570 |
773 |
2.1e-54 |
SMART |
|
Blast:Transket_pyr
|
775 |
805 |
7e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169865
AA Change: T577A
|
| SMART Domains |
Protein: ENSMUSP00000129194
Gene: ENSMUSG00000025815
AA Change: T577A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
165 |
N/A |
INTRINSIC |
|
Pfam:E1_dh
|
193 |
505 |
1.7e-46 |
PFAM |
|
Blast:Transket_pyr
|
523 |
558 |
9e-8 |
BLAST |
|
Transket_pyr
|
570 |
773 |
2.1e-54 |
SMART |
|
Pfam:OxoGdeHyase_C
|
777 |
919 |
2.2e-50 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
C |
T |
7: 28,947,321 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,610,259 (GRCm39) |
V635A |
probably benign |
Het |
| Adgre1 |
T |
A |
17: 57,751,064 (GRCm39) |
Y579* |
probably null |
Het |
| Adgrg3 |
T |
C |
8: 95,766,053 (GRCm39) |
F295L |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 8,998,254 (GRCm39) |
|
probably benign |
Het |
| Brd2 |
T |
A |
17: 34,335,976 (GRCm39) |
Q79L |
probably damaging |
Het |
| Brd2 |
C |
A |
17: 34,335,975 (GRCm39) |
Q79H |
probably damaging |
Het |
| Capn15 |
A |
G |
17: 26,181,037 (GRCm39) |
S705P |
probably damaging |
Het |
| Cebpz |
T |
A |
17: 79,243,342 (GRCm39) |
D104V |
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,626,534 (GRCm39) |
I94T |
probably damaging |
Het |
| Csf2rb |
C |
T |
15: 78,220,614 (GRCm39) |
A52V |
probably damaging |
Het |
| Ddx27 |
T |
C |
2: 166,870,309 (GRCm39) |
L459P |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,081,077 (GRCm39) |
T2873I |
probably benign |
Het |
| Emg1 |
A |
G |
6: 124,688,984 (GRCm39) |
F8S |
possibly damaging |
Het |
| Fermt3 |
A |
G |
19: 6,979,143 (GRCm39) |
I553T |
probably damaging |
Het |
| Gaa |
A |
G |
11: 119,165,947 (GRCm39) |
D419G |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,008,912 (GRCm39) |
|
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,381,037 (GRCm39) |
V122E |
possibly damaging |
Het |
| Lig3 |
C |
A |
11: 82,681,448 (GRCm39) |
T480K |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,769,381 (GRCm39) |
|
probably null |
Het |
| Mcm2 |
G |
T |
6: 88,863,044 (GRCm39) |
H683N |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,390,331 (GRCm39) |
A427S |
probably damaging |
Het |
| Nkd1 |
T |
C |
8: 89,248,923 (GRCm39) |
F23L |
probably damaging |
Het |
| Or9i2 |
G |
A |
19: 13,816,225 (GRCm39) |
T104M |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,454,075 (GRCm39) |
S152A |
probably benign |
Het |
| Pdx1 |
A |
T |
5: 147,211,217 (GRCm39) |
E146V |
probably damaging |
Het |
| Qrsl1 |
T |
C |
10: 43,750,604 (GRCm39) |
T485A |
probably benign |
Het |
| Slc17a4 |
A |
G |
13: 24,089,516 (GRCm39) |
Y134H |
probably benign |
Het |
| Slc24a4 |
A |
T |
12: 102,185,219 (GRCm39) |
M110L |
possibly damaging |
Het |
| Tent5a |
A |
G |
9: 85,207,103 (GRCm39) |
C232R |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,645,263 (GRCm39) |
I541F |
possibly damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,052,652 (GRCm39) |
V382A |
probably benign |
Het |
| Vac14 |
T |
A |
8: 111,345,523 (GRCm39) |
M1K |
probably null |
Het |
| Virma |
A |
G |
4: 11,528,672 (GRCm39) |
E1303G |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,356,411 (GRCm39) |
V3724A |
probably benign |
Het |
|
| Other mutations in Dhtkd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00777:Dhtkd1
|
APN |
2 |
5,934,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01544:Dhtkd1
|
APN |
2 |
5,918,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01726:Dhtkd1
|
APN |
2 |
5,947,467 (GRCm39) |
missense |
unknown |
|
|
IGL02069:Dhtkd1
|
APN |
2 |
5,935,745 (GRCm39) |
nonsense |
probably null |
0.00 |
|
IGL02476:Dhtkd1
|
APN |
2 |
5,935,717 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02662:Dhtkd1
|
APN |
2 |
5,904,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02937:Dhtkd1
|
APN |
2 |
5,922,716 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
PIT4486001:Dhtkd1
|
UTSW |
2 |
5,904,806 (GRCm39) |
missense |
probably benign |
|
|
R0277:Dhtkd1
|
UTSW |
2 |
5,919,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0323:Dhtkd1
|
UTSW |
2 |
5,919,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0373:Dhtkd1
|
UTSW |
2 |
5,916,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Dhtkd1
|
UTSW |
2 |
5,908,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Dhtkd1
|
UTSW |
2 |
5,908,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1924:Dhtkd1
|
UTSW |
2 |
5,916,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1943:Dhtkd1
|
UTSW |
2 |
5,937,293 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1976:Dhtkd1
|
UTSW |
2 |
5,907,202 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2057:Dhtkd1
|
UTSW |
2 |
5,947,430 (GRCm39) |
missense |
unknown |
|
|
R5050:Dhtkd1
|
UTSW |
2 |
5,922,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5057:Dhtkd1
|
UTSW |
2 |
5,924,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5133:Dhtkd1
|
UTSW |
2 |
5,908,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Dhtkd1
|
UTSW |
2 |
5,919,627 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5437:Dhtkd1
|
UTSW |
2 |
5,928,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5526:Dhtkd1
|
UTSW |
2 |
5,916,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5720:Dhtkd1
|
UTSW |
2 |
5,907,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6006:Dhtkd1
|
UTSW |
2 |
5,908,836 (GRCm39) |
nonsense |
probably null |
|
|
R6155:Dhtkd1
|
UTSW |
2 |
5,915,170 (GRCm39) |
missense |
probably null |
1.00 |
|
R6675:Dhtkd1
|
UTSW |
2 |
5,908,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6870:Dhtkd1
|
UTSW |
2 |
5,924,248 (GRCm39) |
splice site |
probably null |
|
|
R6899:Dhtkd1
|
UTSW |
2 |
5,922,776 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7123:Dhtkd1
|
UTSW |
2 |
5,922,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7131:Dhtkd1
|
UTSW |
2 |
5,908,881 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7366:Dhtkd1
|
UTSW |
2 |
5,922,717 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7568:Dhtkd1
|
UTSW |
2 |
5,926,898 (GRCm39) |
splice site |
probably null |
|
|
R7731:Dhtkd1
|
UTSW |
2 |
5,928,923 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7874:Dhtkd1
|
UTSW |
2 |
5,922,485 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8081:Dhtkd1
|
UTSW |
2 |
5,928,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Dhtkd1
|
UTSW |
2 |
5,924,408 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8378:Dhtkd1
|
UTSW |
2 |
5,922,699 (GRCm39) |
missense |
probably benign |
|
|
R8387:Dhtkd1
|
UTSW |
2 |
5,934,479 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8768:Dhtkd1
|
UTSW |
2 |
5,903,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9697:Dhtkd1
|
UTSW |
2 |
5,919,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9784:Dhtkd1
|
UTSW |
2 |
5,935,622 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1088:Dhtkd1
|
UTSW |
2 |
5,916,685 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1177:Dhtkd1
|
UTSW |
2 |
5,947,439 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation