Incidental Mutation 'R7568:Dhtkd1'
| ID |
586019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhtkd1
|
| Ensembl Gene |
ENSMUSG00000025815 |
| Gene Name |
dehydrogenase E1 and transketolase domain containing 1 |
| Synonyms |
C330018I04Rik |
| MMRRC Submission |
045630-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7568 (G1)
|
| Quality Score |
101.013 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
5901030-5947648 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 5926898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026924]
[ENSMUST00000095147]
|
| AlphaFold |
A2ATU0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026924
|
| SMART Domains |
Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
| 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
|
| SMART Domains |
Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
| 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: 99.6%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,391,956 (GRCm39) |
V97E |
possibly damaging |
Het |
| Actl7a |
A |
T |
4: 56,744,498 (GRCm39) |
T342S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,088,749 (GRCm39) |
S554P |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,780,638 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,060,390 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
C |
10: 127,961,139 (GRCm39) |
S1621P |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GGTTCTGTGGTCACT |
GGTTCTGTGGTCACTAGTTCTGTGGTCACT |
3: 95,795,484 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTCACTGGTTCTGTGGTCACTGGTTCTGTG |
GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG |
3: 95,795,463 (GRCm39) |
|
probably benign |
Het |
| Best1 |
T |
A |
19: 9,966,639 (GRCm39) |
|
probably null |
Het |
| Catip |
G |
T |
1: 74,408,089 (GRCm39) |
E474* |
probably null |
Het |
| Comp |
A |
G |
8: 70,826,509 (GRCm39) |
D28G |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,944,353 (GRCm39) |
R600W |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,521,997 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
A |
G |
17: 35,995,174 (GRCm39) |
S675P |
probably damaging |
Het |
| F2rl1 |
G |
A |
13: 95,650,522 (GRCm39) |
A120V |
probably damaging |
Het |
| Fam136a |
A |
G |
6: 86,342,784 (GRCm39) |
N24D |
probably benign |
Het |
| Fbxw10 |
C |
A |
11: 62,765,994 (GRCm39) |
Q755K |
probably benign |
Het |
| Fbxw16 |
C |
A |
9: 109,268,657 (GRCm39) |
Q244H |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,807,119 (GRCm39) |
K373E |
probably benign |
Het |
| Herc3 |
G |
A |
6: 58,820,795 (GRCm39) |
V60I |
probably benign |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,477 (GRCm39) |
K51* |
probably null |
Het |
| Krt23 |
T |
A |
11: 99,383,626 (GRCm39) |
K89* |
probably null |
Het |
| Mavs |
A |
G |
2: 131,087,395 (GRCm39) |
T298A |
probably benign |
Het |
| Mlec |
T |
C |
5: 115,288,181 (GRCm39) |
Y198C |
probably damaging |
Het |
| Ncam2 |
C |
A |
16: 81,386,689 (GRCm39) |
N689K |
probably benign |
Het |
| Nfkbia |
A |
G |
12: 55,538,546 (GRCm39) |
I82T |
probably damaging |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,496 (GRCm39) |
I163V |
probably benign |
Het |
| Or12j2 |
A |
G |
7: 139,915,895 (GRCm39) |
N40S |
probably damaging |
Het |
| Or7a35 |
A |
T |
10: 78,853,341 (GRCm39) |
I62F |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,942 (GRCm39) |
Y258C |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,796 (GRCm39) |
I356F |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,168,096 (GRCm39) |
L719Q |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,752 (GRCm39) |
V365D |
possibly damaging |
Het |
| Scrn2 |
T |
C |
11: 96,921,712 (GRCm39) |
Y61H |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,914,602 (GRCm39) |
V1505M |
probably damaging |
Het |
| Slc2a10 |
A |
G |
2: 165,356,802 (GRCm39) |
N154S |
probably damaging |
Het |
| Slc39a10 |
A |
T |
1: 46,874,290 (GRCm39) |
H337Q |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,404,939 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
G |
6: 91,701,832 (GRCm39) |
L80R |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,590,074 (GRCm39) |
Y1404C |
probably damaging |
Het |
| Sowahc |
A |
G |
10: 59,059,121 (GRCm39) |
E419G |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,095,441 (GRCm39) |
|
probably null |
Het |
| Stab1 |
C |
A |
14: 30,874,552 (GRCm39) |
C952F |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,765,850 (GRCm39) |
M312T |
possibly damaging |
Het |
| Tex2 |
A |
G |
11: 106,439,562 (GRCm39) |
I606T |
unknown |
Het |
| Tex55 |
T |
C |
16: 38,648,809 (GRCm39) |
E100G |
possibly damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,813 (GRCm39) |
H122R |
possibly damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,886 (GRCm39) |
I308V |
probably benign |
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 |
|
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'- GACCTGGAACGTTCATCCC -3'
(R):5'- TCTGTTTTCATGCAGAATTTCCTAG -3'
Sequencing Primer
(F):5'- TGCGTGAGAATCCCAACG -3'
(R):5'- TTCCTAGAGCTGAAACTGGC -3'
|
| Posted On |
2019-10-18 |
Incidental Mutation