Incidental Mutation 'R6006:Dhtkd1'
| ID |
479462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhtkd1
|
| Ensembl Gene |
ENSMUSG00000025815 |
| Gene Name |
dehydrogenase E1 and transketolase domain containing 1 |
| Synonyms |
C330018I04Rik |
| MMRRC Submission |
044183-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
5901030-5947648 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 5908836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 753
(Q753*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026924]
[ENSMUST00000095147]
|
| AlphaFold |
A2ATU0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026924
AA Change: Q753*
|
| SMART Domains |
Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: Q753*
| 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 null
Transcript: ENSMUST00000095147
AA Change: Q753*
|
| SMART Domains |
Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: Q753*
| 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 |
noncoding transcript
Transcript: ENSMUST00000142787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155977
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
G |
8: 124,694,804 (GRCm39) |
I296T |
probably benign |
Het |
| Abcb4 |
C |
A |
5: 8,996,026 (GRCm39) |
T894K |
probably damaging |
Het |
| Acad12 |
C |
T |
5: 121,737,299 (GRCm39) |
V491I |
possibly damaging |
Het |
| Actr8 |
T |
A |
14: 29,706,099 (GRCm39) |
|
probably null |
Het |
| Adam7 |
A |
C |
14: 68,748,845 (GRCm39) |
D467E |
probably damaging |
Het |
| Adamts18 |
A |
T |
8: 114,433,606 (GRCm39) |
C1043S |
probably damaging |
Het |
| Adgrb3 |
T |
G |
1: 25,865,612 (GRCm39) |
D77A |
possibly damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,761,426 (GRCm39) |
D1056E |
probably benign |
Het |
| Bco1 |
A |
G |
8: 117,840,330 (GRCm39) |
|
probably null |
Het |
| Btn2a2 |
A |
T |
13: 23,670,533 (GRCm39) |
W67R |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,759,666 (GRCm39) |
N269Y |
possibly damaging |
Het |
| Cand1 |
A |
G |
10: 119,045,933 (GRCm39) |
F991L |
possibly damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,835,597 (GRCm39) |
K234E |
possibly damaging |
Het |
| Cd14 |
T |
C |
18: 36,859,335 (GRCm39) |
D40G |
possibly damaging |
Het |
| Cdc73 |
A |
T |
1: 143,493,177 (GRCm39) |
F386I |
probably damaging |
Het |
| Cdk14 |
C |
T |
5: 5,299,211 (GRCm39) |
M1I |
probably null |
Het |
| Cnpy3 |
A |
C |
17: 47,047,790 (GRCm39) |
S220A |
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,845,685 (GRCm39) |
V359A |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,696,105 (GRCm39) |
C2654F |
unknown |
Het |
| Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
| Cpsf4l |
A |
G |
11: 113,590,753 (GRCm39) |
V199A |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,852,825 (GRCm39) |
S1307P |
unknown |
Het |
| Fer1l6 |
T |
C |
15: 58,518,893 (GRCm39) |
V1675A |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,425,103 (GRCm39) |
L238P |
probably damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,811,832 (GRCm39) |
Y84H |
probably benign |
Het |
| Iqgap3 |
T |
A |
3: 87,998,854 (GRCm39) |
D318E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,581,359 (GRCm39) |
F715L |
probably damaging |
Het |
| Mlxip |
T |
C |
5: 123,583,721 (GRCm39) |
F428S |
possibly damaging |
Het |
| Morc3 |
T |
G |
16: 93,663,381 (GRCm39) |
I528R |
possibly damaging |
Het |
| Mtx1 |
C |
T |
3: 89,117,613 (GRCm39) |
G60D |
probably damaging |
Het |
| Mug2 |
G |
C |
6: 122,060,459 (GRCm39) |
Q1398H |
probably null |
Het |
| Mup8 |
T |
C |
4: 60,220,403 (GRCm39) |
I110V |
probably benign |
Het |
| Nfkb1 |
A |
T |
3: 135,309,522 (GRCm39) |
L12* |
probably null |
Het |
| Numa1 |
G |
A |
7: 101,641,926 (GRCm39) |
|
probably null |
Het |
| Or52e18 |
T |
G |
7: 104,609,870 (GRCm39) |
E23A |
probably damaging |
Het |
| Pbk |
C |
T |
14: 66,054,094 (GRCm39) |
P213L |
probably damaging |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,431,905 (GRCm39) |
H224Q |
possibly damaging |
Het |
| Pkp1 |
C |
G |
1: 135,805,406 (GRCm39) |
|
probably null |
Het |
| Rela |
A |
G |
19: 5,689,967 (GRCm39) |
N139S |
probably damaging |
Het |
| Rgs3 |
G |
A |
4: 62,542,143 (GRCm39) |
R39Q |
probably damaging |
Het |
| S1pr3 |
A |
G |
13: 51,573,731 (GRCm39) |
E304G |
probably damaging |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Setmar |
T |
C |
6: 108,053,387 (GRCm39) |
S294P |
possibly damaging |
Het |
| Smc2 |
A |
G |
4: 52,459,024 (GRCm39) |
N473S |
probably benign |
Het |
| Ssr1 |
TCTCTTTC |
T |
13: 38,169,972 (GRCm39) |
|
probably null |
Het |
| Tigd2 |
A |
G |
6: 59,187,762 (GRCm39) |
I210V |
possibly damaging |
Het |
| Tmprss9 |
T |
A |
10: 80,719,555 (GRCm39) |
F93L |
possibly damaging |
Het |
| U2surp |
T |
C |
9: 95,361,360 (GRCm39) |
Y633C |
probably damaging |
Het |
| Usp18 |
A |
T |
6: 121,239,781 (GRCm39) |
E292V |
possibly damaging |
Het |
| Usp32 |
A |
C |
11: 84,883,277 (GRCm39) |
|
probably null |
Het |
| Utp18 |
T |
C |
11: 93,776,449 (GRCm39) |
D12G |
probably benign |
Het |
| Vmn1r216 |
C |
A |
13: 23,283,928 (GRCm39) |
H204N |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,241,372 (GRCm39) |
V626A |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,761,809 (GRCm39) |
V619E |
probably null |
Het |
| Wwc1 |
T |
C |
11: 35,780,100 (GRCm39) |
D285G |
probably damaging |
Het |
| Zfp3 |
A |
T |
11: 70,662,590 (GRCm39) |
Q183L |
probably benign |
Het |
| Zfp955a |
A |
G |
17: 33,460,660 (GRCm39) |
C491R |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCACATACACAGAGAGAAAG -3'
(R):5'- GGGAAATGCCTGTGAGTACTTT -3'
Sequencing Primer
(F):5'- CACATACACAGAGAGAAAGAGAGAG -3'
(R):5'- GAGAATACACGTGCTTCCCTTTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation