Incidental Mutation 'R8378:Dhtkd1'
| ID |
646793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhtkd1
|
| Ensembl Gene |
ENSMUSG00000025815 |
| Gene Name |
dehydrogenase E1 and transketolase domain containing 1 |
| Synonyms |
C330018I04Rik |
| MMRRC Submission |
067746-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8378 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
5901030-5947648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5922699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 487
(T487A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026924]
[ENSMUST00000095147]
|
| AlphaFold |
A2ATU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026924
AA Change: T487A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: T487A
| 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: T487A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: T487A
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
A |
G |
15: 59,886,967 (GRCm39) |
I491T |
probably damaging |
Het |
| Aadacl4fm4 |
C |
G |
4: 144,397,169 (GRCm39) |
V188L |
probably benign |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Ankrd40 |
G |
T |
11: 94,225,662 (GRCm39) |
G231V |
probably damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,601,445 (GRCm39) |
E82G |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,003,248 (GRCm39) |
N93D |
probably damaging |
Het |
| Car9 |
C |
T |
4: 43,509,021 (GRCm39) |
R224C |
probably damaging |
Het |
| Cass4 |
T |
C |
2: 172,269,714 (GRCm39) |
C599R |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,490 (GRCm39) |
N1261D |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,989,709 (GRCm39) |
D1726G |
probably damaging |
Het |
| Ceacam2 |
G |
A |
7: 25,217,597 (GRCm39) |
A306V |
probably damaging |
Het |
| Crebrf |
G |
T |
17: 26,981,263 (GRCm39) |
L546F |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,069,941 (GRCm39) |
F370S |
probably damaging |
Het |
| Diaph1 |
G |
A |
18: 38,025,006 (GRCm39) |
A485V |
unknown |
Het |
| Dmbt1 |
T |
C |
7: 130,708,195 (GRCm39) |
V1479A |
probably damaging |
Het |
| Efemp1 |
C |
T |
11: 28,871,765 (GRCm39) |
R427W |
probably damaging |
Het |
| Gm11444 |
C |
A |
11: 85,741,075 (GRCm39) |
W28L |
|
Het |
| Golga4 |
A |
G |
9: 118,387,390 (GRCm39) |
D1504G |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,757 (GRCm39) |
S238G |
probably benign |
Het |
| Igkv1-135 |
T |
A |
6: 67,587,378 (GRCm39) |
V83D |
possibly damaging |
Het |
| Ippk |
T |
A |
13: 49,589,055 (GRCm39) |
C183* |
probably null |
Het |
| Itgb3 |
A |
G |
11: 104,533,142 (GRCm39) |
T419A |
possibly damaging |
Het |
| Kcnt1 |
A |
G |
2: 25,797,283 (GRCm39) |
H129R |
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,807,299 (GRCm39) |
V12E |
probably damaging |
Het |
| Kif2b |
C |
A |
11: 91,467,201 (GRCm39) |
G361C |
possibly damaging |
Het |
| Klhl30 |
A |
T |
1: 91,285,494 (GRCm39) |
K339* |
probably null |
Het |
| Lrfn1 |
A |
G |
7: 28,159,157 (GRCm39) |
I359V |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ndufaf2 |
C |
A |
13: 108,189,387 (GRCm39) |
L120F |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,545 (GRCm39) |
V961A |
possibly damaging |
Het |
| Or12e10 |
T |
A |
2: 87,640,394 (GRCm39) |
Y77N |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,678 (GRCm39) |
V135A |
probably benign |
Het |
| Pcnx2 |
G |
A |
8: 126,487,649 (GRCm39) |
P1785S |
probably damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,504,234 (GRCm39) |
Y170H |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Rfx8 |
T |
A |
1: 39,709,581 (GRCm39) |
D482V |
probably damaging |
Het |
| Rilpl1 |
T |
C |
5: 124,668,964 (GRCm39) |
Y28C |
probably damaging |
Het |
| Sgce |
G |
C |
6: 4,689,760 (GRCm39) |
L394V |
probably damaging |
Het |
| Sgce |
T |
A |
6: 4,691,525 (GRCm39) |
Y350F |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,414,597 (GRCm39) |
V39A |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,976,405 (GRCm39) |
I1148F |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,372,029 (GRCm39) |
R64* |
probably null |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,108 (GRCm39) |
V725E |
probably benign |
Het |
| Yy1 |
A |
T |
12: 108,759,562 (GRCm39) |
H75L |
unknown |
Het |
| Zwilch |
A |
T |
9: 64,060,240 (GRCm39) |
V366D |
possibly 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGAAGGTGGCTGTGCAC -3'
(R):5'- TTAAGGATGATGACCTCCTGCAG -3'
Sequencing Primer
(F):5'- GCACCTGCAGTTCCTCTGG -3'
(R):5'- ATGATGACCTCCTGCAGTGCTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation