Incidental Mutation 'R1976:Dhtkd1'
| ID |
221673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhtkd1
|
| Ensembl Gene |
ENSMUSG00000025815 |
| Gene Name |
dehydrogenase E1 and transketolase domain containing 1 |
| Synonyms |
C330018I04Rik |
| MMRRC Submission |
039989-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1976 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
5901030-5947648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5907202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 838
(E838G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026924]
[ENSMUST00000095147]
|
| AlphaFold |
A2ATU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026924
AA Change: E838G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: E838G
| 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: E838G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: E838G
| 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: ENSMUST00000150099
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155977
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169865
AA Change: E838G
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129194
Gene: ENSMUSG00000025815
AA Change: E838G
| 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 |
1.7e-46 |
PFAM |
|
Blast:Transket_pyr
|
523 |
558 |
9e-8 |
BLAST |
|
Transket_pyr
|
570 |
773 |
2.1e-54 |
SMART |
|
Pfam:OxoGdeHyase_C
|
777 |
919 |
2.2e-50 |
PFAM |
|
| Meta Mutation Damage Score |
0.2614 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (65/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,347,815 (GRCm39) |
V3556A |
probably damaging |
Het |
| Abcb5 |
T |
C |
12: 118,854,417 (GRCm39) |
I833V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,217,861 (GRCm39) |
H432L |
probably benign |
Het |
| Alppl2 |
T |
A |
1: 87,016,463 (GRCm39) |
I204F |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,525,262 (GRCm39) |
F486I |
probably damaging |
Het |
| Bcl9l |
T |
A |
9: 44,417,449 (GRCm39) |
L429Q |
possibly damaging |
Het |
| Ccdc33 |
A |
T |
9: 58,024,445 (GRCm39) |
Y227* |
probably null |
Het |
| Cd101 |
A |
G |
3: 100,915,377 (GRCm39) |
V730A |
probably damaging |
Het |
| Cdadc1 |
A |
T |
14: 59,811,217 (GRCm39) |
V431E |
probably damaging |
Het |
| Dazap1 |
T |
A |
10: 80,110,454 (GRCm39) |
|
probably null |
Het |
| Dbpht2 |
T |
A |
12: 74,342,635 (GRCm39) |
|
noncoding transcript |
Het |
| Dennd4b |
A |
T |
3: 90,180,362 (GRCm39) |
T742S |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,129,045 (GRCm39) |
D1823E |
probably benign |
Het |
| Enox1 |
T |
A |
14: 77,906,233 (GRCm39) |
N556K |
probably benign |
Het |
| Fam227a |
T |
C |
15: 79,510,477 (GRCm39) |
I392M |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,388,238 (GRCm39) |
M831K |
probably benign |
Het |
| Foxn1 |
T |
C |
11: 78,256,763 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
A |
C |
7: 33,956,805 (GRCm39) |
N353K |
probably damaging |
Het |
| Glis3 |
T |
C |
19: 28,240,077 (GRCm39) |
936 |
probably benign |
Het |
| Gm4953 |
T |
A |
1: 158,995,923 (GRCm39) |
|
noncoding transcript |
Het |
| Gsr |
T |
G |
8: 34,170,288 (GRCm39) |
|
probably null |
Het |
| Habp4 |
G |
T |
13: 64,332,420 (GRCm39) |
V344F |
probably benign |
Het |
| Hdac7 |
G |
A |
15: 97,704,386 (GRCm39) |
Q495* |
probably null |
Het |
| Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
| Hltf |
A |
G |
3: 20,160,610 (GRCm39) |
D759G |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,722,733 (GRCm39) |
|
probably benign |
Het |
| Kank2 |
A |
T |
9: 21,705,857 (GRCm39) |
V387E |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,389 (GRCm39) |
V319A |
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,716 (GRCm39) |
K348N |
possibly damaging |
Het |
| Lsamp |
T |
C |
16: 41,709,430 (GRCm39) |
V103A |
probably damaging |
Het |
| Ltbp4 |
A |
T |
7: 27,026,195 (GRCm39) |
C538S |
probably damaging |
Het |
| Micu1 |
T |
C |
10: 59,604,035 (GRCm39) |
S174P |
probably damaging |
Het |
| Mta1 |
A |
G |
12: 113,099,926 (GRCm39) |
N607S |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,416,891 (GRCm39) |
S3279L |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,289,995 (GRCm39) |
E211G |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,165,311 (GRCm39) |
M649K |
probably benign |
Het |
| Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
| Pisd |
A |
G |
5: 32,896,209 (GRCm39) |
V372A |
probably damaging |
Het |
| Prim1 |
T |
A |
10: 127,859,668 (GRCm39) |
C288S |
probably benign |
Het |
| Rab23 |
T |
A |
1: 33,763,019 (GRCm39) |
C30S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,440,344 (GRCm39) |
T797A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,015,108 (GRCm39) |
D940G |
probably benign |
Het |
| Scn1a |
T |
C |
2: 66,161,615 (GRCm39) |
E311G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,129,573 (GRCm39) |
I1598N |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,145,957 (GRCm39) |
|
probably null |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Sprr3 |
T |
A |
3: 92,364,253 (GRCm39) |
Q197L |
possibly damaging |
Het |
| Stab2 |
A |
C |
10: 86,732,360 (GRCm39) |
|
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Tas2r123 |
T |
A |
6: 132,824,295 (GRCm39) |
V64D |
probably damaging |
Het |
| Trhde |
T |
G |
10: 114,424,336 (GRCm39) |
N483T |
possibly damaging |
Het |
| Trp53 |
C |
T |
11: 69,479,323 (GRCm39) |
T167M |
probably damaging |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,336,720 (GRCm39) |
L148P |
probably benign |
Het |
| Usp17la |
A |
G |
7: 104,509,527 (GRCm39) |
E44G |
possibly damaging |
Het |
| Usp40 |
T |
G |
1: 87,906,258 (GRCm39) |
Q659P |
probably benign |
Het |
| Vmn1r4 |
T |
C |
6: 56,933,723 (GRCm39) |
C76R |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,899,925 (GRCm39) |
G660R |
probably damaging |
Het |
| Zfp786 |
T |
A |
6: 47,796,691 (GRCm39) |
H749L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTCTATAGCATGTCCTCAG -3'
(R):5'- CAGCTTTATCTGCAACACATTGAC -3'
Sequencing Primer
(F):5'- GCATGTCCTCAGATTTCATGAG -3'
(R):5'- TTATCTGCAACACATTGACATCTAG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation