Incidental Mutation 'IGL01726:Dhtkd1'
| ID |
105290 |
| 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 # |
IGL01726
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
5901030-5947648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5947467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 6
(T6A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026924]
[ENSMUST00000095147]
|
| AlphaFold |
A2ATU0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000026924
AA Change: T6A
|
| SMART Domains |
Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: T6A
| 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 |
unknown
Transcript: ENSMUST00000095147
AA Change: T6A
|
| SMART Domains |
Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: T6A
| 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 |
unknown
Transcript: ENSMUST00000169865
AA Change: T6A
|
| SMART Domains |
Protein: ENSMUSP00000129194
Gene: ENSMUSG00000025815
AA Change: T6A
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
C |
3: 89,638,147 (GRCm39) |
|
probably null |
Het |
| Arpc2 |
A |
G |
1: 74,287,338 (GRCm39) |
T53A |
probably benign |
Het |
| Ccdc170 |
C |
A |
10: 4,499,713 (GRCm39) |
L545M |
probably benign |
Het |
| Ccm2l |
T |
C |
2: 152,922,821 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,810,391 (GRCm39) |
N2166D |
probably benign |
Het |
| Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
| Clcnka |
C |
T |
4: 141,120,051 (GRCm39) |
|
probably null |
Het |
| Clip2 |
A |
T |
5: 134,551,518 (GRCm39) |
N201K |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,589,485 (GRCm39) |
L110F |
possibly damaging |
Het |
| Enthd1 |
A |
C |
15: 80,336,652 (GRCm39) |
L594R |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,272,626 (GRCm39) |
D618G |
probably benign |
Het |
| Gm6096 |
A |
T |
7: 33,950,904 (GRCm39) |
I148F |
probably damaging |
Het |
| Hsf5 |
C |
T |
11: 87,526,951 (GRCm39) |
T541I |
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,537,563 (GRCm39) |
S443G |
possibly damaging |
Het |
| Il1a |
T |
C |
2: 129,146,640 (GRCm39) |
D151G |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,754,166 (GRCm39) |
|
probably benign |
Het |
| Kcnh1 |
A |
C |
1: 192,188,164 (GRCm39) |
D875A |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,439,760 (GRCm39) |
I336F |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,880,657 (GRCm39) |
F246S |
possibly damaging |
Het |
| Nova1 |
C |
T |
12: 46,760,280 (GRCm39) |
|
probably null |
Het |
| Nsa2 |
C |
A |
13: 97,268,525 (GRCm39) |
A181S |
probably damaging |
Het |
| Ntn5 |
C |
A |
7: 45,343,671 (GRCm39) |
R337S |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,101,611 (GRCm39) |
S427P |
probably benign |
Het |
| Or52e5 |
A |
G |
7: 104,718,836 (GRCm39) |
E54G |
probably damaging |
Het |
| Pcgf1 |
T |
A |
6: 83,055,867 (GRCm39) |
|
probably null |
Het |
| Pfn4 |
T |
A |
12: 4,824,446 (GRCm39) |
L58I |
probably benign |
Het |
| Plekha1 |
C |
A |
7: 130,499,059 (GRCm39) |
P116Q |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,300 (GRCm39) |
S81P |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,570,146 (GRCm39) |
D243G |
probably damaging |
Het |
| Rbm26 |
G |
A |
14: 105,389,943 (GRCm39) |
P227L |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,394,904 (GRCm39) |
N756K |
probably damaging |
Het |
| Rhou |
A |
T |
8: 124,380,880 (GRCm39) |
T66S |
possibly damaging |
Het |
| Rspo3 |
A |
T |
10: 29,380,704 (GRCm39) |
D103E |
probably benign |
Het |
| Rundc3b |
T |
C |
5: 8,570,902 (GRCm39) |
K306E |
probably benign |
Het |
| Slc25a32 |
A |
G |
15: 38,965,466 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,332,566 (GRCm39) |
T556A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,342,486 (GRCm39) |
K324E |
probably benign |
Het |
| Tnrc6c |
T |
C |
11: 117,640,161 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,817,971 (GRCm39) |
S452T |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,717,121 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
G |
12: 85,965,708 (GRCm39) |
I571S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,797,433 (GRCm39) |
T544A |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,891,334 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
C |
A |
17: 47,303,907 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
A |
T |
1: 171,111,574 (GRCm39) |
W360R |
probably damaging |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,526 (GRCm39) |
L639H |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,656,000 (GRCm39) |
I116N |
possibly damaging |
Het |
| Zfp618 |
C |
T |
4: 63,050,872 (GRCm39) |
T551I |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 7,230,707 (GRCm39) |
|
probably benign |
Het |
| Zkscan8 |
T |
C |
13: 21,704,973 (GRCm39) |
H322R |
probably benign |
Het |
| Zwint |
T |
G |
10: 72,493,019 (GRCm39) |
|
probably null |
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 |
|
IGL01724:Dhtkd1
|
APN |
2 |
5,919,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
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