Incidental Mutation 'R7123:Dhtkd1'
| ID |
552123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhtkd1
|
| Ensembl Gene |
ENSMUSG00000025815 |
| Gene Name |
dehydrogenase E1 and transketolase domain containing 1 |
| Synonyms |
C330018I04Rik |
| MMRRC Submission |
045211-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7123 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
5901030-5947648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5922591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 523
(W523R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026924
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026924]
[ENSMUST00000095147]
|
| AlphaFold |
A2ATU0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026924
AA Change: W523R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: W523R
| 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 damaging
Transcript: ENSMUST00000095147
AA Change: W523R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: W523R
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (52/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,484,949 (GRCm39) |
I1521T |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,740,693 (GRCm39) |
I145N |
probably damaging |
Het |
| Ago3 |
C |
A |
4: 126,248,798 (GRCm39) |
|
probably null |
Het |
| Agrn |
A |
T |
4: 156,257,297 (GRCm39) |
W1178R |
probably benign |
Het |
| Akap3 |
A |
T |
6: 126,843,267 (GRCm39) |
I629L |
probably benign |
Het |
| Aknad1 |
T |
G |
3: 108,682,560 (GRCm39) |
Y545* |
probably null |
Het |
| Anapc1 |
C |
A |
2: 128,454,930 (GRCm39) |
V1925F |
probably damaging |
Het |
| Barhl1 |
C |
T |
2: 28,799,943 (GRCm39) |
|
probably null |
Het |
| Cfap157 |
T |
C |
2: 32,669,413 (GRCm39) |
E294G |
probably damaging |
Het |
| Cfd |
G |
A |
10: 79,728,331 (GRCm39) |
G231S |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,215,300 (GRCm39) |
V105A |
probably damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnajc22 |
A |
C |
15: 98,999,085 (GRCm39) |
Y90S |
possibly damaging |
Het |
| Ebna1bp2 |
A |
G |
4: 118,482,772 (GRCm39) |
K254E |
probably damaging |
Het |
| Gfpt1 |
A |
T |
6: 87,033,168 (GRCm39) |
D131V |
probably damaging |
Het |
| Gm5460 |
A |
G |
14: 33,763,982 (GRCm39) |
I21V |
unknown |
Het |
| H2-T9 |
A |
G |
17: 36,438,686 (GRCm39) |
I235T |
possibly damaging |
Het |
| Htr1d |
C |
T |
4: 136,169,664 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
G |
A |
7: 139,516,749 (GRCm39) |
E1570K |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,919,789 (GRCm39) |
Y887H |
probably damaging |
Het |
| Kti12 |
T |
C |
4: 108,705,679 (GRCm39) |
S198P |
probably benign |
Het |
| Mcmdc2 |
A |
T |
1: 10,010,643 (GRCm39) |
I604F |
unknown |
Het |
| Mmp8 |
A |
T |
9: 7,563,196 (GRCm39) |
D253V |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,569,509 (GRCm39) |
S252P |
possibly damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,505 (GRCm39) |
K1317R |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,530,435 (GRCm39) |
I749V |
probably benign |
Het |
| Nfrkb |
A |
G |
9: 31,325,311 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,904,477 (GRCm39) |
T7166A |
probably benign |
Het |
| Obsl1 |
A |
G |
1: 75,466,313 (GRCm39) |
S1472P |
probably damaging |
Het |
| Or14j7 |
T |
A |
17: 38,234,567 (GRCm39) |
L37M |
probably benign |
Het |
| Or1e20-ps1 |
T |
A |
11: 73,324,536 (GRCm39) |
D172V |
unknown |
Het |
| Orc1 |
A |
C |
4: 108,445,884 (GRCm39) |
M1L |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,813,742 (GRCm39) |
S4069T |
possibly damaging |
Het |
| Pus1 |
T |
C |
5: 110,921,798 (GRCm39) |
*442W |
probably null |
Het |
| Rgma |
A |
C |
7: 73,059,139 (GRCm39) |
D97A |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,746,279 (GRCm39) |
K3834E |
probably benign |
Het |
| Sars2 |
T |
C |
7: 28,452,866 (GRCm39) |
V475A |
probably benign |
Het |
| Scamp2 |
A |
T |
9: 57,494,385 (GRCm39) |
T253S |
probably benign |
Het |
| Skint9 |
C |
T |
4: 112,248,174 (GRCm39) |
W190* |
probably null |
Het |
| Spata31d1e |
G |
A |
13: 59,891,254 (GRCm39) |
Q189* |
probably null |
Het |
| Sv2b |
C |
T |
7: 74,767,450 (GRCm39) |
V649I |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
| Tiparp |
A |
T |
3: 65,460,948 (GRCm39) |
I646F |
probably damaging |
Het |
| Topaz1 |
G |
A |
9: 122,577,480 (GRCm39) |
G130D |
probably damaging |
Het |
| Trio |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC |
15: 27,742,399 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,619,051 (GRCm39) |
P319S |
possibly damaging |
Het |
| Umodl1 |
T |
A |
17: 31,201,318 (GRCm39) |
F416I |
possibly damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,261,088 (GRCm39) |
D445G |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,235,462 (GRCm39) |
V651A |
possibly damaging |
Het |
| Zbtb21 |
C |
T |
16: 97,751,112 (GRCm39) |
S1057N |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,815,950 (GRCm39) |
C667S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAACACGAGCATCAGTTG -3'
(R):5'- TCATTGCCAGTGGACTCATG -3'
Sequencing Primer
(F):5'- GGTGGCTCACAATCATCCGTAATG -3'
(R):5'- TCATGACCCAGGAGGAGGTTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation