Mutagenetix > Incidental Mutation

Incidental Mutation 'R7131:Dhtkd1'

552617

Institutional Source

Beutler Lab

Gene Symbol

Dhtkd1

Ensembl Gene

ENSMUSG00000025815

Gene Name

dehydrogenase E1 and transketolase domain containing 1

Synonyms

C330018I04Rik

MMRRC Submission

045216-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5896115-5942792 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 5904070 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 738 (V738L)

Ref Sequence

ENSEMBL: ENSMUSP00000026924 (fasta)

Gene Model

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

AlphaFold

A2ATU0

Predicted Effect

probably benign
Transcript: ENSMUST00000026924
AA Change: V738L

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: V738L

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 benign
Transcript: ENSMUST00000095147
AA Change: V738L

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: V738L

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,548,956 (GRCm38)	V435A	possibly damaging	Het
Abca13	A	G	11: 9,291,893 (GRCm38)	N1252S	probably benign	Het
Abcc3	A	T	11: 94,365,031 (GRCm38)	F543I	probably damaging	Het
Adam15	T	A	3: 89,346,980 (GRCm38)	Q170L	possibly damaging	Het
AF366264	A	T	8: 13,836,982 (GRCm38)	W370R	probably damaging	Het
Aldoc	A	G	11: 78,324,456 (GRCm38)	I19V	possibly damaging	Het
Atrip	T	C	9: 109,060,420 (GRCm38)	I711M	probably benign	Het
Brwd1	A	C	16: 96,066,498 (GRCm38)	L149R	probably damaging	Het
Capn9	A	T	8: 124,576,278 (GRCm38)	D45V	probably damaging	Het
Card9	G	A	2: 26,358,835 (GRCm38)	R101C	probably damaging	Het
Casc1	A	T	6: 145,177,406 (GRCm38)	L578Q	probably null	Het
Ccdc36	A	T	9: 108,417,420 (GRCm38)	D98E	probably benign	Het
Ccdc87	A	G	19: 4,841,757 (GRCm38)	E759G	probably damaging	Het
Cep250	T	C	2: 155,965,077 (GRCm38)	M193T	probably damaging	Het
Cfap54	T	C	10: 92,821,104 (GRCm38)	K3029E	probably benign	Het
Chrna9	G	A	5: 65,977,141 (GRCm38)	G445D	possibly damaging	Het
Cluap1	C	T	16: 3,940,775 (GRCm38)	S367L	probably benign	Het
Col5a1	A	G	2: 27,929,486 (GRCm38)	D200G	unknown	Het
Crhr2	T	C	6: 55,092,127 (GRCm38)	N388D		Het
Cyp2b23	A	G	7: 26,681,413 (GRCm38)	L129P	probably benign	Het
Cyr61	T	C	3: 145,648,781 (GRCm38)	D125G	probably damaging	Het
Dctd	A	G	8: 48,112,040 (GRCm38)	S67G	probably benign	Het
Dnah17	C	T	11: 118,079,658 (GRCm38)	D2173N	probably benign	Het
Dnah7c	G	T	1: 46,681,772 (GRCm38)	A2819S	probably benign	Het
Dot1l	A	G	10: 80,792,341 (GRCm38)	H1071R	unknown	Het
Doxl2	T	A	6: 48,976,372 (GRCm38)	Y410*	probably null	Het
Dync2h1	T	A	9: 7,075,786 (GRCm38)	D3027V	probably damaging	Het
Efl1	A	G	7: 82,658,064 (GRCm38)	Y56C	probably damaging	Het
Eif4e1b	A	T	13: 54,784,100 (GRCm38)	R29W	probably null	Het
Evc2	A	G	5: 37,410,258 (GRCm38)	R860G	probably damaging	Het
Fbxl12	G	A	9: 20,644,383 (GRCm38)		probably benign	Het
Fibp	T	A	19: 5,461,491 (GRCm38)	I129N	probably damaging	Het
Folh1	G	T	7: 86,726,112 (GRCm38)	H555Q	probably damaging	Het
Gcnt4	A	T	13: 96,946,519 (GRCm38)	T108S	probably damaging	Het
Gm436	A	G	4: 144,670,067 (GRCm38)	V365A	probably damaging	Het
H1fnt	T	A	15: 98,256,369 (GRCm38)	K300*	probably null	Het
Hecw2	A	T	1: 53,865,121 (GRCm38)	V1156E	probably damaging	Het
Herc3	C	G	6: 58,887,424 (GRCm38)	A681G	probably damaging	Het
Igkv13-84	T	A	6: 68,939,780 (GRCm38)	C20*	probably null	Het
Ivd	C	A	2: 118,869,774 (GRCm38)	T94K	probably damaging	Het
Kank2	C	T	9: 21,794,679 (GRCm38)	A348T	probably benign	Het
Kcnma1	T	C	14: 23,367,494 (GRCm38)	Y889C	probably damaging	Het
Kif13b	T	C	14: 64,773,068 (GRCm38)	V1272A	probably damaging	Het
Kmt2d	GCTGCTGCT	GCTGCTGCTCCTGCTGCT	15: 98,849,616 (GRCm38)		probably benign	Het
Kmt5b	T	A	19: 3,815,412 (GRCm38)	D825E	probably benign	Het
Krt39	C	T	11: 99,520,871 (GRCm38)	A130T	probably benign	Het
Krtap4-9	C	T	11: 99,785,457 (GRCm38)	T68I	unknown	Het
Lmbr1l	A	T	15: 98,906,323 (GRCm38)	V365E	probably benign	Het
Lonp1	C	T	17: 56,617,814 (GRCm38)	R531Q	probably damaging	Het
Mecom	T	A	3: 29,980,945 (GRCm38)	H194L	probably damaging	Het
Mlx	C	T	11: 101,089,242 (GRCm38)	H188Y	probably damaging	Het
Mrps10	T	C	17: 47,375,015 (GRCm38)	S77P	probably damaging	Het
Mst1	A	G	9: 108,084,931 (GRCm38)	E716G	probably null	Het
Mttp	C	T	3: 138,116,132 (GRCm38)	V210I	probably benign	Het
Mug2	T	C	6: 122,075,247 (GRCm38)	V988A	probably damaging	Het
Ndufb6	A	G	4: 40,279,336 (GRCm38)	M1T	probably null	Het
Neurog1	A	T	13: 56,251,750 (GRCm38)	N61K	probably benign	Het
Nlrp14	A	G	7: 107,184,814 (GRCm38)	D581G	possibly damaging	Het
Nlrp4a	C	A	7: 26,449,833 (GRCm38)	N288K	probably benign	Het
Notch3	T	A	17: 32,144,217 (GRCm38)	H1264L	probably benign	Het
Olfr384	A	T	11: 73,602,736 (GRCm38)	D52V	possibly damaging	Het
Olfr394	A	T	11: 73,887,954 (GRCm38)	C139*	probably null	Het
Olfr402	A	G	11: 74,155,780 (GRCm38)	M209V	probably benign	Het
Patl2	A	T	2: 122,121,782 (GRCm38)		probably null	Het
Pfkfb4	A	G	9: 109,007,302 (GRCm38)	T133A	probably benign	Het
Pla2g4f	T	C	2: 120,304,554 (GRCm38)	E471G	probably null	Het
Postn	T	C	3: 54,362,635 (GRCm38)	V45A	probably damaging	Het
Ppan	T	A	9: 20,891,154 (GRCm38)	V257E	possibly damaging	Het
Ptcra	C	G	17: 46,763,596 (GRCm38)	A7P	probably damaging	Het
Ptprd	C	T	4: 76,066,340 (GRCm38)	R523H	probably damaging	Het
Pycrl	A	T	15: 75,918,695 (GRCm38)	I105N	possibly damaging	Het
Rfx1	C	A	8: 84,095,079 (GRCm38)	Q815K	probably damaging	Het
Rfx3	T	A	19: 27,768,628 (GRCm38)	K668*	probably null	Het
Ryr2	A	T	13: 11,640,327 (GRCm38)	D3661E	possibly damaging	Het
Ryr2	A	G	13: 11,668,811 (GRCm38)		probably null	Het
Sec23ip	T	A	7: 128,779,640 (GRCm38)	S974T	probably damaging	Het
Setbp1	A	G	18: 79,086,960 (GRCm38)	F19S	probably benign	Het
Setd1a	AAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAG	7: 127,796,418 (GRCm38)		probably benign	Het
Sh3pxd2b	A	G	11: 32,422,072 (GRCm38)	K413R	probably damaging	Het
Slc39a12	T	C	2: 14,449,803 (GRCm38)	V544A	probably damaging	Het
Slc6a7	T	C	18: 61,002,202 (GRCm38)	Y418C	probably damaging	Het
Snx19	T	G	9: 30,427,893 (GRCm38)	I109S	probably damaging	Het
Spg20	T	C	3: 55,121,799 (GRCm38)		probably null	Het
Sptbn2	A	T	19: 4,749,460 (GRCm38)	Q2097L	probably null	Het
Syne1	T	C	10: 5,228,221 (GRCm38)	K4751R	probably damaging	Het
Tigit	C	A	16: 43,662,252 (GRCm38)	G40C	probably damaging	Het
Tmem181a	T	A	17: 6,297,972 (GRCm38)	I264K	probably damaging	Het
Tom1	T	A	8: 75,057,249 (GRCm38)	I287N	possibly damaging	Het
Top2a	G	A	11: 99,004,182 (GRCm38)	P864L	possibly damaging	Het
Trmt44	A	T	5: 35,571,066 (GRCm38)	V290E	probably damaging	Het
Try4	T	C	6: 41,304,403 (GRCm38)	I93T	probably benign	Het
Usp24	T	A	4: 106,382,303 (GRCm38)	H1147Q	possibly damaging	Het
Uspl1	A	T	5: 149,193,935 (GRCm38)	R109S	probably benign	Het
Vav3	T	A	3: 109,664,346 (GRCm38)	F755I	probably damaging	Het
Vezt	A	T	10: 93,970,547 (GRCm38)	Y667*	probably null	Het
Vmn1r231	T	A	17: 20,889,878 (GRCm38)	L258F	possibly damaging	Het
Zfp207	T	C	11: 80,395,528 (GRCm38)	M489T	unknown	Het
Zfp462	A	G	4: 55,009,380 (GRCm38)	T449A	probably benign	Het
Zfp956	C	A	6: 47,955,847 (GRCm38)	Q19K	probably benign	Het
Zkscan8	A	T	13: 21,525,273 (GRCm38)	W152R	probably damaging	Het

Other mutations in Dhtkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Dhtkd1	APN	2	5,929,657 (GRCm38)	missense	probably damaging	1.00
IGL01544:Dhtkd1	APN	2	5,913,531 (GRCm38)	missense	probably benign	0.00
IGL01724:Dhtkd1	APN	2	5,914,840 (GRCm38)	missense	probably benign	0.00
IGL01726:Dhtkd1	APN	2	5,942,656 (GRCm38)	missense	unknown
IGL02069:Dhtkd1	APN	2	5,930,934 (GRCm38)	nonsense	probably null	0.00
IGL02476:Dhtkd1	APN	2	5,930,906 (GRCm38)	missense	possibly damaging	0.89
IGL02662:Dhtkd1	APN	2	5,899,972 (GRCm38)	missense	probably damaging	1.00
IGL02937:Dhtkd1	APN	2	5,917,905 (GRCm38)	missense	possibly damaging	0.49
PIT4486001:Dhtkd1	UTSW	2	5,899,995 (GRCm38)	missense	probably benign
R0277:Dhtkd1	UTSW	2	5,914,888 (GRCm38)	missense	probably benign	0.00
R0323:Dhtkd1	UTSW	2	5,914,888 (GRCm38)	missense	probably benign	0.00
R0373:Dhtkd1	UTSW	2	5,911,870 (GRCm38)	missense	probably damaging	1.00
R0512:Dhtkd1	UTSW	2	5,904,091 (GRCm38)	missense	probably damaging	1.00
R1497:Dhtkd1	UTSW	2	5,904,113 (GRCm38)	missense	probably damaging	1.00
R1924:Dhtkd1	UTSW	2	5,911,933 (GRCm38)	missense	probably damaging	1.00
R1943:Dhtkd1	UTSW	2	5,932,482 (GRCm38)	missense	probably benign	0.11
R1976:Dhtkd1	UTSW	2	5,902,391 (GRCm38)	missense	possibly damaging	0.95
R2057:Dhtkd1	UTSW	2	5,942,619 (GRCm38)	missense	unknown
R5050:Dhtkd1	UTSW	2	5,917,689 (GRCm38)	missense	probably benign	0.00
R5057:Dhtkd1	UTSW	2	5,919,513 (GRCm38)	missense	probably damaging	1.00
R5133:Dhtkd1	UTSW	2	5,904,002 (GRCm38)	missense	probably damaging	1.00
R5219:Dhtkd1	UTSW	2	5,914,816 (GRCm38)	missense	probably benign	0.01
R5437:Dhtkd1	UTSW	2	5,924,119 (GRCm38)	missense	probably benign	0.01
R5526:Dhtkd1	UTSW	2	5,911,851 (GRCm38)	missense	probably damaging	1.00
R5720:Dhtkd1	UTSW	2	5,903,014 (GRCm38)	missense	probably damaging	1.00
R6006:Dhtkd1	UTSW	2	5,904,025 (GRCm38)	nonsense	probably null
R6155:Dhtkd1	UTSW	2	5,910,359 (GRCm38)	missense	probably null	1.00
R6675:Dhtkd1	UTSW	2	5,904,078 (GRCm38)	missense	probably damaging	1.00
R6870:Dhtkd1	UTSW	2	5,919,437 (GRCm38)	splice site	probably null
R6899:Dhtkd1	UTSW	2	5,917,965 (GRCm38)	missense	possibly damaging	0.91
R7123:Dhtkd1	UTSW	2	5,917,780 (GRCm38)	missense	probably damaging	0.99
R7366:Dhtkd1	UTSW	2	5,917,906 (GRCm38)	missense	probably benign	0.01
R7568:Dhtkd1	UTSW	2	5,922,087 (GRCm38)	splice site	probably null
R7731:Dhtkd1	UTSW	2	5,924,112 (GRCm38)	missense	probably benign	0.07
R7874:Dhtkd1	UTSW	2	5,917,674 (GRCm38)	missense	possibly damaging	0.72
R8081:Dhtkd1	UTSW	2	5,924,108 (GRCm38)	missense	probably damaging	1.00
R8340:Dhtkd1	UTSW	2	5,919,597 (GRCm38)	missense	probably damaging	0.98
R8378:Dhtkd1	UTSW	2	5,917,888 (GRCm38)	missense	probably benign
R8387:Dhtkd1	UTSW	2	5,929,668 (GRCm38)	missense	possibly damaging	0.90
R8768:Dhtkd1	UTSW	2	5,898,722 (GRCm38)	missense	probably benign	0.02
R9697:Dhtkd1	UTSW	2	5,914,840 (GRCm38)	missense	probably benign	0.00
R9784:Dhtkd1	UTSW	2	5,930,811 (GRCm38)	missense	probably benign	0.13
Z1088:Dhtkd1	UTSW	2	5,911,874 (GRCm38)	missense	possibly damaging	0.84
Z1177:Dhtkd1	UTSW	2	5,942,628 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CATGCACATACACAGAGAGAAAG -3'
(R):5'- GGGAAATGCCTGTGAGTACTTT -3'

Sequencing Primer
(F):5'- CACATACACAGAGAGAAAGAGAGAG -3'
(R):5'- AATGCCTGTGAGTACTTTTCTGTTAC -3'

Posted On

2019-05-15