Mutagenetix > Incidental Mutation

Incidental Mutation 'R8081:Dhtkd1'

629320

Institutional Source

Beutler Lab

Gene Symbol

Dhtkd1

Ensembl Gene

ENSMUSG00000025815

Gene Name

dehydrogenase E1 and transketolase domain containing 1

Synonyms

C330018I04Rik

MMRRC Submission

067514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8081 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5901030-5947648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5928919 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 251 (E251K)

Ref Sequence

ENSEMBL: ENSMUSP00000026924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026924] [ENSMUST00000095147]

AlphaFold

A2ATU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000026924
AA Change: E251K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: E251K

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 damaging
Transcript: ENSMUST00000095147
AA Change: E251K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: E251K

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: 99.9%
3x: 99.7%
10x: 98.9%
20x: 95.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,138,313 (GRCm39)	E119V	probably damaging	Het
Adamts2	A	T	11: 50,668,004 (GRCm39)	D522V	probably damaging	Het
Agtpbp1	A	T	13: 59,676,221 (GRCm39)	L183*	probably null	Het
Arhgap10	T	C	8: 78,109,375 (GRCm39)	I403V	possibly damaging	Het
Arhgef11	T	C	3: 87,632,949 (GRCm39)	S687P	probably damaging	Het
Cdhr1	C	T	14: 36,815,967 (GRCm39)	V144I	probably benign	Het
Cdk20	A	G	13: 64,586,766 (GRCm39)	I339V	probably benign	Het
Ceacam13	A	G	7: 17,747,113 (GRCm39)	K189E	probably damaging	Het
Cep290	C	T	10: 100,394,038 (GRCm39)	Q2082*	probably null	Het
Cgrrf1	A	G	14: 47,091,468 (GRCm39)	T331A	probably benign	Het
Cntn4	G	A	6: 106,651,568 (GRCm39)	V706I	possibly damaging	Het
Csrnp2	T	C	15: 100,387,462 (GRCm39)	D2G	probably damaging	Het
Cux2	A	G	5: 122,007,519 (GRCm39)	I714T	probably benign	Het
Cx3cr1	C	T	9: 119,880,878 (GRCm39)	E175K	possibly damaging	Het
Dennd1c	G	A	17: 57,381,139 (GRCm39)	P163L	possibly damaging	Het
Epas1	C	T	17: 87,136,797 (GRCm39)	P787S	probably benign	Het
Epha2	T	C	4: 141,049,605 (GRCm39)	V737A	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fcsk	T	A	8: 111,615,783 (GRCm39)	R515S	probably benign	Het
Fscb	A	T	12: 64,518,802 (GRCm39)	M888K	unknown	Het
Gldc	ACGACC	AC	19: 30,135,987 (GRCm39)		probably null	Het
Gm14443	A	T	2: 175,012,238 (GRCm39)	C69*	probably null	Het
Gm19668	G	A	10: 77,634,420 (GRCm39)	A183V	unknown	Het
Gm49368	A	G	7: 127,726,280 (GRCm39)	R1231G	unknown	Het
Grin2c	T	C	11: 115,140,719 (GRCm39)	Y1133C	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Hydin	T	C	8: 111,092,101 (GRCm39)	S425P	possibly damaging	Het
Ifnl3	T	C	7: 28,223,682 (GRCm39)	S173P	probably damaging	Het
Igkv4-63	A	T	6: 69,355,018 (GRCm39)	S88T	possibly damaging	Het
Klhl5	C	A	5: 65,320,268 (GRCm39)	N607K	possibly damaging	Het
Lag3	A	T	6: 124,882,410 (GRCm39)	L362*	probably null	Het
Lats2	C	A	14: 57,937,968 (GRCm39)	G174C	probably damaging	Het
Mcm6	T	C	1: 128,265,905 (GRCm39)	E622G	probably damaging	Het
Med13l	C	A	5: 118,866,333 (GRCm39)	H462Q	probably damaging	Het
Mrpl53	T	A	6: 83,086,159 (GRCm39)	F23I	probably damaging	Het
Muc5b	T	G	7: 141,417,743 (GRCm39)	I3563S	possibly damaging	Het
Myo16	A	C	8: 10,372,743 (GRCm39)	L147F	unknown	Het
Npc1l1	G	C	11: 6,167,768 (GRCm39)	Q1008E	probably benign	Het
Npy4r	A	G	14: 33,868,524 (GRCm39)	S255P	probably damaging	Het
Nup210	T	C	6: 91,053,657 (GRCm39)	N287D	probably benign	Het
Opn3	T	A	1: 175,493,135 (GRCm39)	H143L	probably damaging	Het
Or12e7	G	T	2: 87,287,513 (GRCm39)	M1I	probably null	Het
Or12j3	A	T	7: 139,952,972 (GRCm39)	L184M	probably damaging	Het
Or12j5	A	T	7: 140,084,369 (GRCm39)	M1K	probably null	Het
Or4k2	T	A	14: 50,423,825 (GRCm39)	N284I	probably damaging	Het
Or5ap2b-ps1	C	T	2: 85,693,839 (GRCm39)	P28L	probably damaging	Het
Pdcd7	C	T	9: 65,253,967 (GRCm39)	R182C	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Picalm	T	A	7: 89,840,451 (GRCm39)	L540*	probably null	Het
Ppp1r21	T	A	17: 88,866,272 (GRCm39)	I356N	probably damaging	Het
Rgs6	C	T	12: 83,094,347 (GRCm39)	Q67*	probably null	Het
Ripor2	C	A	13: 24,897,683 (GRCm39)	Q794K	probably benign	Het
Rnf216	A	T	5: 143,013,719 (GRCm39)	I702N	probably damaging	Het
Robo4	T	C	9: 37,316,936 (GRCm39)	L417P	probably damaging	Het
Samhd1	A	T	2: 156,943,358 (GRCm39)	C605*	probably null	Het
Scaper	C	T	9: 55,823,330 (GRCm39)	G22D	unknown	Het
Senp5	T	C	16: 31,784,577 (GRCm39)	T692A	probably damaging	Het
Six6	G	T	12: 72,986,875 (GRCm39)	G16W	probably damaging	Het
Slc38a8	A	T	8: 120,212,269 (GRCm39)	M358K	possibly damaging	Het
Snx2	T	C	18: 53,349,459 (GRCm39)	F407L	probably benign	Het
Srrm2	T	A	17: 24,039,219 (GRCm39)	N1954K	probably damaging	Het
Syk	A	T	13: 52,792,195 (GRCm39)	M429L	probably benign	Het
Tln2	T	A	9: 67,264,029 (GRCm39)	N537Y	probably damaging	Het
Usp29	T	A	7: 6,966,629 (GRCm39)	M824K	probably benign	Het
Utrn	A	G	10: 12,423,803 (GRCm39)		probably benign	Het
Wdr37	C	T	13: 8,885,406 (GRCm39)	D346N	probably damaging	Het
Zfpm2	T	A	15: 40,965,644 (GRCm39)	C710S	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
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
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'- CAGGCTGAGCAGAACCATTC -3'
(R):5'- GAGTGACCCAGCAGTTAGAG -3'

Sequencing Primer
(F):5'- AACCATTCGGGGAGTAGTCC -3'
(R):5'- TGACCCAGCAGTTAGAGGTCTG -3'

Posted On

2020-06-30