Incidental Mutation 'IGL02662:Dhtkd1'
| ID |
302572 |
| 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 # |
IGL02662
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
5901030-5947648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5904783 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 867
(P867L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026924]
[ENSMUST00000026926]
[ENSMUST00000095147]
[ENSMUST00000102981]
[ENSMUST00000193792]
|
| AlphaFold |
A2ATU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026924
AA Change: P867L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: P867L
| 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: ENSMUST00000026926
|
| SMART Domains |
Protein: ENSMUSP00000026926
Gene: ENSMUSG00000025816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Plug_translocon
|
40 |
74 |
6.9e-24 |
PFAM |
|
Pfam:SecY
|
75 |
162 |
1.2e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095147
AA Change: P867L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: P867L
| 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: ENSMUST00000102981
|
| SMART Domains |
Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Plug_translocon
|
40 |
74 |
6.2e-21 |
PFAM |
|
Pfam:SecY
|
75 |
458 |
1e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194565
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193792
|
| SMART Domains |
Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Plug_translocon
|
40 |
74 |
4e-22 |
PFAM |
|
Pfam:SecY
|
75 |
263 |
5.3e-44 |
PFAM |
|
Pfam:SecY
|
261 |
393 |
1.6e-34 |
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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,618,744 (GRCm39) |
|
probably null |
Het |
| Ap5z1 |
G |
A |
5: 142,462,644 (GRCm39) |
|
probably null |
Het |
| Cdhr5 |
T |
G |
7: 140,854,416 (GRCm39) |
I120L |
possibly damaging |
Het |
| Chd5 |
C |
T |
4: 152,456,588 (GRCm39) |
S975F |
probably damaging |
Het |
| Cts3 |
G |
T |
13: 61,715,871 (GRCm39) |
Q132K |
probably damaging |
Het |
| Cylc2 |
T |
A |
4: 51,216,698 (GRCm39) |
|
probably benign |
Het |
| Defb39 |
A |
G |
8: 19,102,891 (GRCm39) |
V68A |
probably benign |
Het |
| Dgki |
A |
G |
6: 36,839,421 (GRCm39) |
|
probably benign |
Het |
| Gata5 |
C |
T |
2: 179,969,544 (GRCm39) |
|
probably benign |
Het |
| Glt28d2 |
T |
A |
3: 85,779,423 (GRCm39) |
I17F |
probably damaging |
Het |
| Gstm2 |
T |
C |
3: 107,892,378 (GRCm39) |
Y82C |
possibly damaging |
Het |
| Hs6st1 |
T |
A |
1: 36,142,893 (GRCm39) |
L276* |
probably null |
Het |
| Iqgap1 |
T |
C |
7: 80,392,827 (GRCm39) |
D712G |
probably benign |
Het |
| Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
| Ksr1 |
G |
A |
11: 78,927,551 (GRCm39) |
T289I |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,124 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,694 (GRCm39) |
S674P |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,557,218 (GRCm39) |
V841I |
probably benign |
Het |
| Or10a48 |
T |
C |
7: 108,424,952 (GRCm39) |
T85A |
probably benign |
Het |
| Or8i2 |
T |
C |
2: 86,852,346 (GRCm39) |
T181A |
probably benign |
Het |
| Pigx |
A |
G |
16: 31,906,201 (GRCm39) |
V40A |
probably damaging |
Het |
| Pla2g2d |
T |
G |
4: 138,506,006 (GRCm39) |
M5R |
possibly damaging |
Het |
| Ppa2 |
G |
T |
3: 133,073,644 (GRCm39) |
R234I |
probably damaging |
Het |
| Rbms1 |
A |
C |
2: 60,592,650 (GRCm39) |
L221R |
probably damaging |
Het |
| Rnasel |
C |
A |
1: 153,629,857 (GRCm39) |
N124K |
probably damaging |
Het |
| Serpinb9h |
A |
G |
13: 33,588,513 (GRCm39) |
N366S |
possibly damaging |
Het |
| Sigirr |
T |
A |
7: 140,674,707 (GRCm39) |
|
probably benign |
Het |
| Tas2r136 |
A |
T |
6: 132,754,671 (GRCm39) |
V152E |
probably damaging |
Het |
| Tlnrd1 |
C |
T |
7: 83,532,027 (GRCm39) |
V135M |
possibly damaging |
Het |
| Tlnrd1 |
A |
G |
7: 83,531,744 (GRCm39) |
L229S |
probably damaging |
Het |
| Top1mt |
A |
G |
15: 75,540,554 (GRCm39) |
V239A |
probably damaging |
Het |
| Tpd52 |
A |
T |
3: 9,009,775 (GRCm39) |
|
probably null |
Het |
| Trim16 |
T |
A |
11: 62,731,383 (GRCm39) |
L331Q |
possibly damaging |
Het |
| Ttll4 |
A |
G |
1: 74,726,390 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,272 (GRCm39) |
D244V |
probably damaging |
Het |
| Vmn2r72 |
A |
C |
7: 85,387,391 (GRCm39) |
D724E |
probably benign |
Het |
| Zfp563 |
T |
C |
17: 33,321,253 (GRCm39) |
W18R |
probably damaging |
Het |
| Zswim8 |
T |
C |
14: 20,763,142 (GRCm39) |
V347A |
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 |
|
IGL01724:Dhtkd1
|
APN |
2 |
5,919,651 (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 |
|
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 |
2015-04-16 |
Incidental Mutation