Incidental Mutation 'R8387:Dhtkd1'
ID 647186
Institutional Source Beutler Lab
Gene Symbol Dhtkd1
Ensembl Gene ENSMUSG00000025815
Gene Name dehydrogenase E1 and transketolase domain containing 1
Synonyms C330018I04Rik
MMRRC Submission 067876-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8387 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 5901030-5947648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 5934479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 230 (L230F)
Ref Sequence ENSEMBL: ENSMUSP00000026924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026924] [ENSMUST00000095147]
AlphaFold A2ATU0
Predicted Effect possibly damaging
Transcript: ENSMUST00000026924
AA Change: L230F

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: L230F

DomainStartEndE-ValueType
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: L230F

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: L230F

DomainStartEndE-ValueType
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 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,874,698 (GRCm39) D453N probably damaging Het
Arl14ep T C 2: 106,799,562 (GRCm39) D93G probably damaging Het
Bcl7b T C 5: 135,197,413 (GRCm39) I18T probably damaging Het
Cdh1 A G 8: 107,390,501 (GRCm39) I614V probably benign Het
Cpa3 T C 3: 20,281,400 (GRCm39) I169V probably benign Het
Cpeb4 T C 11: 31,858,877 (GRCm39) probably null Het
Csmd1 G A 8: 16,050,484 (GRCm39) H2251Y possibly damaging Het
Dab2ip T A 2: 35,609,870 (GRCm39) I695K probably damaging Het
Emc1 T C 4: 139,088,600 (GRCm39) S353P probably benign Het
Erc2 T A 14: 27,375,253 (GRCm39) L157Q possibly damaging Het
Flvcr1 A G 1: 190,743,731 (GRCm39) probably null Het
Fryl A C 5: 73,293,663 (GRCm39) probably null Het
Gnl2 T C 4: 124,949,127 (GRCm39) *729Q probably null Het
Gpr63 G A 4: 25,008,301 (GRCm39) V342M possibly damaging Het
Guf1 C T 5: 69,723,810 (GRCm39) P463L probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Ifngr2 T C 16: 91,358,535 (GRCm39) L245P probably damaging Het
Igsf10 A G 3: 59,236,564 (GRCm39) F1206L probably damaging Het
Ktn1 T A 14: 47,944,744 (GRCm39) probably null Het
Lekr1 A G 3: 65,591,520 (GRCm39) K86E possibly damaging Het
Lrrc3 C T 10: 77,737,346 (GRCm39) G30D possibly damaging Het
Mapk8ip2 T C 15: 89,344,897 (GRCm39) F765L probably damaging Het
Myo6 A G 9: 80,183,632 (GRCm39) T676A unknown Het
Nr4a1 T C 15: 101,171,053 (GRCm39) S510P probably damaging Het
Or2o1 T C 11: 49,051,497 (GRCm39) S219P probably damaging Het
Or4c113 T C 2: 88,885,646 (GRCm39) I41M probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or51e1 C T 7: 102,359,402 (GRCm39) T312I probably benign Het
Or5a1 A G 19: 12,097,785 (GRCm39) L97P probably damaging Het
Pdcd1 G A 1: 93,969,193 (GRCm39) L42F probably damaging Het
Pdzd7 T C 19: 45,018,490 (GRCm39) D621G probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pias4 G A 10: 80,990,342 (GRCm39) R398C probably benign Het
Plekha6 A T 1: 133,219,893 (GRCm39) probably null Het
Prkag3 A G 1: 74,784,854 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,606 (GRCm39) T23A probably benign Het
Ptprd T C 4: 75,873,526 (GRCm39) D1069G probably damaging Het
Ptprr A G 10: 116,087,030 (GRCm39) Y503C probably damaging Het
Slc26a8 T C 17: 28,866,899 (GRCm39) D610G probably benign Het
Smyd4 A G 11: 75,292,984 (GRCm39) N638S probably benign Het
Tenm3 A G 8: 48,740,883 (GRCm39) F1200S probably damaging Het
Tox3 A G 8: 90,984,595 (GRCm39) S195P probably benign Het
Trim44 T C 2: 102,230,518 (GRCm39) E171G probably damaging Het
Vars1 T A 17: 35,229,490 (GRCm39) M369K probably damaging Het
Vmn2r77 C A 7: 86,450,947 (GRCm39) Q278K probably benign Het
Zfp345 T C 2: 150,314,740 (GRCm39) T266A probably damaging Het
Other mutations in Dhtkd1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R8378:Dhtkd1 UTSW 2 5,922,699 (GRCm39) missense probably benign
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'- GGAACTTAGCACCATCACCTTC -3'
(R):5'- ACTTGACTGTCTTCCGGCAG -3'

Sequencing Primer
(F):5'- TGGAGTCTCATCAACATGGC -3'
(R):5'- GGCAGCTCATATGTCTGTTCCATAG -3'
Posted On 2020-09-02