Incidental Mutation 'R8387:Dhtkd1'
ID |
647186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhtkd1
|
Ensembl Gene |
ENSMUSG00000025815 |
Gene Name |
dehydrogenase E1 and transketolase domain containing 1 |
Synonyms |
C330018I04Rik |
MMRRC Submission |
067876-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8387 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
5901030-5947648 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 5934479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 230
(L230F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026924
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026924]
[ENSMUST00000095147]
|
AlphaFold |
A2ATU0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026924
AA Change: L230F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000026924 Gene: ENSMUSG00000025815 AA Change: L230F
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 |
possibly damaging
Transcript: ENSMUST00000095147
AA Change: L230F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000092769 Gene: ENSMUSG00000025815 AA Change: L230F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
Arl14ep |
T |
C |
2: 106,799,562 (GRCm39) |
D93G |
probably damaging |
Het |
Bcl7b |
T |
C |
5: 135,197,413 (GRCm39) |
I18T |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,390,501 (GRCm39) |
I614V |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,281,400 (GRCm39) |
I169V |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,858,877 (GRCm39) |
|
probably null |
Het |
Csmd1 |
G |
A |
8: 16,050,484 (GRCm39) |
H2251Y |
possibly damaging |
Het |
Dab2ip |
T |
A |
2: 35,609,870 (GRCm39) |
I695K |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,088,600 (GRCm39) |
S353P |
probably benign |
Het |
Erc2 |
T |
A |
14: 27,375,253 (GRCm39) |
L157Q |
possibly damaging |
Het |
Flvcr1 |
A |
G |
1: 190,743,731 (GRCm39) |
|
probably null |
Het |
Fryl |
A |
C |
5: 73,293,663 (GRCm39) |
|
probably null |
Het |
Gnl2 |
T |
C |
4: 124,949,127 (GRCm39) |
*729Q |
probably null |
Het |
Gpr63 |
G |
A |
4: 25,008,301 (GRCm39) |
V342M |
possibly damaging |
Het |
Guf1 |
C |
T |
5: 69,723,810 (GRCm39) |
P463L |
probably damaging |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Ifngr2 |
T |
C |
16: 91,358,535 (GRCm39) |
L245P |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,564 (GRCm39) |
F1206L |
probably damaging |
Het |
Ktn1 |
T |
A |
14: 47,944,744 (GRCm39) |
|
probably null |
Het |
Lekr1 |
A |
G |
3: 65,591,520 (GRCm39) |
K86E |
possibly damaging |
Het |
Lrrc3 |
C |
T |
10: 77,737,346 (GRCm39) |
G30D |
possibly damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,344,897 (GRCm39) |
F765L |
probably damaging |
Het |
Myo6 |
A |
G |
9: 80,183,632 (GRCm39) |
T676A |
unknown |
Het |
Nr4a1 |
T |
C |
15: 101,171,053 (GRCm39) |
S510P |
probably damaging |
Het |
Or2o1 |
T |
C |
11: 49,051,497 (GRCm39) |
S219P |
probably damaging |
Het |
Or4c113 |
T |
C |
2: 88,885,646 (GRCm39) |
I41M |
probably benign |
Het |
Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
Or51e1 |
C |
T |
7: 102,359,402 (GRCm39) |
T312I |
probably benign |
Het |
Or5a1 |
A |
G |
19: 12,097,785 (GRCm39) |
L97P |
probably damaging |
Het |
Pdcd1 |
G |
A |
1: 93,969,193 (GRCm39) |
L42F |
probably damaging |
Het |
Pdzd7 |
T |
C |
19: 45,018,490 (GRCm39) |
D621G |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pias4 |
G |
A |
10: 80,990,342 (GRCm39) |
R398C |
probably benign |
Het |
Plekha6 |
A |
T |
1: 133,219,893 (GRCm39) |
|
probably null |
Het |
Prkag3 |
A |
G |
1: 74,784,854 (GRCm39) |
|
probably null |
Het |
Ptpn7 |
A |
G |
1: 135,061,606 (GRCm39) |
T23A |
probably benign |
Het |
Ptprd |
T |
C |
4: 75,873,526 (GRCm39) |
D1069G |
probably damaging |
Het |
Ptprr |
A |
G |
10: 116,087,030 (GRCm39) |
Y503C |
probably damaging |
Het |
Slc26a8 |
T |
C |
17: 28,866,899 (GRCm39) |
D610G |
probably benign |
Het |
Smyd4 |
A |
G |
11: 75,292,984 (GRCm39) |
N638S |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,740,883 (GRCm39) |
F1200S |
probably damaging |
Het |
Tox3 |
A |
G |
8: 90,984,595 (GRCm39) |
S195P |
probably benign |
Het |
Trim44 |
T |
C |
2: 102,230,518 (GRCm39) |
E171G |
probably damaging |
Het |
Vars1 |
T |
A |
17: 35,229,490 (GRCm39) |
M369K |
probably damaging |
Het |
Vmn2r77 |
C |
A |
7: 86,450,947 (GRCm39) |
Q278K |
probably benign |
Het |
Zfp345 |
T |
C |
2: 150,314,740 (GRCm39) |
T266A |
probably damaging |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAACTTAGCACCATCACCTTC -3'
(R):5'- ACTTGACTGTCTTCCGGCAG -3'
Sequencing Primer
(F):5'- TGGAGTCTCATCAACATGGC -3'
(R):5'- GGCAGCTCATATGTCTGTTCCATAG -3'
|
Posted On |
2020-09-02 |