Incidental Mutation 'R0323:Dhtkd1'
ID 64991
Institutional Source Beutler Lab
Gene Symbol Dhtkd1
Ensembl Gene ENSMUSG00000025815
Gene Name dehydrogenase E1 and transketolase domain containing 1
Synonyms C330018I04Rik
MMRRC Submission 038533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0323 (G1)
Quality Score 168
Status Not validated
Chromosome 2
Chromosomal Location 5901030-5947648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5919699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 561 (M561L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026924] [ENSMUST00000095147]
AlphaFold A2ATU0
Predicted Effect probably benign
Transcript: ENSMUST00000026924
AA Change: M561L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: M561L

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 probably benign
Transcript: ENSMUST00000095147
AA Change: M561L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: M561L

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 noncoding transcript
Transcript: ENSMUST00000155977
Predicted Effect probably benign
Transcript: ENSMUST00000169865
AA Change: M561L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129194
Gene: ENSMUSG00000025815
AA Change: M561L

DomainStartEndE-ValueType
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 0.0586 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 94.2%
  • 20x: 86.1%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,446,674 (GRCm39) T816S possibly damaging Het
4930527J03Rik ACCC ACC 1: 178,276,503 (GRCm38) noncoding transcript Het
4931429P17Rik A C 13: 48,114,493 (GRCm39) noncoding transcript Het
Abca13 A C 11: 9,244,701 (GRCm39) D2188A probably benign Het
Accsl T A 2: 93,691,425 (GRCm39) Q351L probably benign Het
Acot6 A C 12: 84,155,953 (GRCm39) E300D probably benign Het
Adgre1 T A 17: 57,751,060 (GRCm39) I578N probably benign Het
Agbl4 T C 4: 111,474,419 (GRCm39) S403P probably damaging Het
Agps T A 2: 75,724,505 (GRCm39) Y506* probably null Het
Appl1 A T 14: 26,664,695 (GRCm39) V446D possibly damaging Het
Arcn1 A T 9: 44,670,356 (GRCm39) I90N probably damaging Het
Aspscr1 G A 11: 120,569,246 (GRCm39) V15I probably damaging Het
Asxl2 A G 12: 3,492,487 (GRCm39) Y24C probably damaging Het
Atp8b1 A G 18: 64,701,323 (GRCm39) F345S possibly damaging Het
Barx1 A G 13: 48,819,430 (GRCm39) T243A probably benign Het
Bltp1 T A 3: 36,997,331 (GRCm39) C1129* probably null Het
Bmp2k A G 5: 97,235,682 (GRCm39) probably benign Het
Cacul1 A G 19: 60,531,498 (GRCm39) I257T probably benign Het
Chml A T 1: 175,514,650 (GRCm39) F424I probably benign Het
Clcn1 A T 6: 42,287,074 (GRCm39) E710D probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cylc2 T A 4: 51,228,477 (GRCm39) S183T unknown Het
Dnajc13 A G 9: 104,034,091 (GRCm39) S2188P probably damaging Het
Dyrk1b C A 7: 27,884,781 (GRCm39) Q399K probably benign Het
Erc1 T C 6: 119,597,289 (GRCm39) K1003E probably damaging Het
Ezr G A 17: 7,022,164 (GRCm39) Q105* probably null Het
Fam83d T A 2: 158,627,467 (GRCm39) D385E probably benign Het
Fbn2 A G 18: 58,178,389 (GRCm39) C1950R probably damaging Het
Fbxo32 A T 15: 58,047,605 (GRCm39) I236N probably damaging Het
Fcgr1 T C 3: 96,193,145 (GRCm39) E284G possibly damaging Het
Foxe3 T C 4: 114,782,805 (GRCm39) N136D probably damaging Het
Fscn2 A T 11: 120,258,837 (GRCm39) I461F probably damaging Het
Fsip2 T C 2: 82,816,240 (GRCm39) I3991T probably benign Het
Galnt15 A T 14: 31,770,042 (GRCm39) H249L probably damaging Het
Gm10803 T A 2: 93,394,415 (GRCm39) Y62* probably null Het
Gm20730 G A 6: 43,058,449 (GRCm39) probably null Het
Gm4841 A G 18: 60,403,718 (GRCm39) L125S possibly damaging Het
Gmpr2 A G 14: 55,910,203 (GRCm39) D11G probably damaging Het
Gucy1b1 T A 3: 81,945,463 (GRCm39) probably null Het
Hhla1 C A 15: 65,820,352 (GRCm39) V133F probably benign Het
Hscb T C 5: 110,982,556 (GRCm39) E177G possibly damaging Het
Hyal4 A T 6: 24,756,193 (GRCm39) N137I probably benign Het
Lcp2 A G 11: 34,004,322 (GRCm39) D53G probably damaging Het
Ldb3 G A 14: 34,266,002 (GRCm39) T531I probably damaging Het
Llgl2 A G 11: 115,741,546 (GRCm39) K559E probably damaging Het
Loxhd1 A G 18: 77,456,833 (GRCm39) I499V probably benign Het
Lrp2 T C 2: 69,299,983 (GRCm39) Y3023C probably damaging Het
Lrrc59 A C 11: 94,534,248 (GRCm39) T269P probably damaging Het
Lrriq1 A T 10: 103,057,150 (GRCm39) C217S possibly damaging Het
Mmrn2 A T 14: 34,119,991 (GRCm39) Q287L probably damaging Het
Mplkip A G 13: 17,871,565 (GRCm39) I159V possibly damaging Het
Napg C T 18: 63,120,034 (GRCm39) R149C probably damaging Het
Nrxn1 A C 17: 91,008,170 (GRCm39) probably null Het
Or10ag60 G A 2: 87,437,841 (GRCm39) M36I probably benign Het
Or1e17 A T 11: 73,831,773 (GRCm39) I234F probably benign Het
Or6c70 T A 10: 129,709,936 (GRCm39) Q230L probably damaging Het
Or6d15 A T 6: 116,559,562 (GRCm39) V115E probably damaging Het
Or6n2 A G 1: 173,896,893 (GRCm39) T10A probably benign Het
Orc4 A T 2: 48,827,479 (GRCm39) V38E possibly damaging Het
Palm3 T A 8: 84,755,349 (GRCm39) V287D probably damaging Het
Pde11a C T 2: 75,877,118 (GRCm39) probably null Het
Pdss2 T A 10: 43,248,172 (GRCm39) H225Q probably benign Het
Pkhd1 A T 1: 20,345,762 (GRCm39) D2755E probably benign Het
Pla2g5 C T 4: 138,527,967 (GRCm39) D100N probably benign Het
Polrmt T C 10: 79,577,832 (GRCm39) T287A probably benign Het
Ppfia2 A G 10: 106,732,281 (GRCm39) I943V possibly damaging Het
Pth2r A C 1: 65,427,775 (GRCm39) I483L probably benign Het
Qrsl1 A G 10: 43,772,003 (GRCm39) probably null Het
Ralgapa1 A T 12: 55,724,023 (GRCm39) I1548N probably damaging Het
Scn9a T C 2: 66,398,475 (GRCm39) E45G probably damaging Het
Sf3b1 T C 1: 55,058,416 (GRCm39) I58V probably damaging Het
Sh3d19 T A 3: 86,033,978 (GRCm39) M777K probably benign Het
Shc1 T C 3: 89,331,020 (GRCm39) L106P probably damaging Het
Skint5 T C 4: 113,794,818 (GRCm39) H255R probably benign Het
Slc28a3 C A 13: 58,711,866 (GRCm39) G487* probably null Het
Slc49a4 ACC AC 16: 35,539,730 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,777 (GRCm39) R188S probably damaging Het
Slitrk5 A G 14: 111,919,055 (GRCm39) D893G probably damaging Het
Spta1 A G 1: 174,046,017 (GRCm39) T1594A probably damaging Het
Srarp G A 4: 141,160,690 (GRCm39) Q48* probably null Het
Srf T C 17: 46,860,415 (GRCm39) T456A possibly damaging Het
Stx2 C T 5: 129,065,967 (GRCm39) V230I probably benign Het
Tenm4 C A 7: 96,344,157 (GRCm39) P250Q possibly damaging Het
Tnrc6c A G 11: 117,630,707 (GRCm39) K1023E probably damaging Het
Trpc6 A T 9: 8,610,276 (GRCm39) H248L probably damaging Het
Trpc6 A G 9: 8,643,537 (GRCm39) K441E probably damaging Het
Uty T A Y: 1,169,979 (GRCm39) I326F probably damaging Het
Vmn1r63 A G 7: 5,806,335 (GRCm39) V99A probably benign Het
Wnt11 A G 7: 98,496,590 (GRCm39) K177E probably damaging Het
Wwc1 T A 11: 35,743,175 (GRCm39) E882V probably damaging Het
Zfhx2 C A 14: 55,303,436 (GRCm39) S1516I possibly damaging Het
Zmpste24 A G 4: 120,940,050 (GRCm39) Y199H 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
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
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
Posted On 2013-08-08