Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Dhtkd1'

428404

Institutional Source

Beutler Lab

Gene Symbol

Dhtkd1

Ensembl Gene

ENSMUSG00000025815

Gene Name

dehydrogenase E1 and transketolase domain containing 1

Synonyms

C330018I04Rik

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5896115-5942792 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5924119 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 247 (R247Q)

Ref Sequence

ENSEMBL: ENSMUSP00000092769 (fasta)

Gene Model

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

AlphaFold

A2ATU0

Predicted Effect

probably benign
Transcript: ENSMUST00000026924
AA Change: R247Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: R247Q

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: R247Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: R247Q

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

noncoding transcript
Transcript: ENSMUST00000127609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151649

Meta Mutation Damage Score

0.0622

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Acsm3	C	A	7: 119,778,497		probably benign	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	probably benign	Het

Other mutations in Dhtkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:Dhtkd1	APN	2	5929657	missense	probably damaging	1.00
IGL01544:Dhtkd1	APN	2	5913531	missense	probably benign	0.00
IGL01724:Dhtkd1	APN	2	5914840	missense	probably benign	0.00
IGL01726:Dhtkd1	APN	2	5942656	missense	unknown
IGL02069:Dhtkd1	APN	2	5930934	nonsense	probably null	0.00
IGL02476:Dhtkd1	APN	2	5930906	missense	possibly damaging	0.89
IGL02662:Dhtkd1	APN	2	5899972	missense	probably damaging	1.00
IGL02937:Dhtkd1	APN	2	5917905	missense	possibly damaging	0.49
PIT4486001:Dhtkd1	UTSW	2	5899995	missense	probably benign
R0277:Dhtkd1	UTSW	2	5914888	missense	probably benign	0.00
R0323:Dhtkd1	UTSW	2	5914888	missense	probably benign	0.00
R0373:Dhtkd1	UTSW	2	5911870	missense	probably damaging	1.00
R0512:Dhtkd1	UTSW	2	5904091	missense	probably damaging	1.00
R1497:Dhtkd1	UTSW	2	5904113	missense	probably damaging	1.00
R1924:Dhtkd1	UTSW	2	5911933	missense	probably damaging	1.00
R1943:Dhtkd1	UTSW	2	5932482	missense	probably benign	0.11
R1976:Dhtkd1	UTSW	2	5902391	missense	possibly damaging	0.95
R2057:Dhtkd1	UTSW	2	5942619	missense	unknown
R5050:Dhtkd1	UTSW	2	5917689	missense	probably benign	0.00
R5057:Dhtkd1	UTSW	2	5919513	missense	probably damaging	1.00
R5133:Dhtkd1	UTSW	2	5904002	missense	probably damaging	1.00
R5219:Dhtkd1	UTSW	2	5914816	missense	probably benign	0.01
R5526:Dhtkd1	UTSW	2	5911851	missense	probably damaging	1.00
R5720:Dhtkd1	UTSW	2	5903014	missense	probably damaging	1.00
R6006:Dhtkd1	UTSW	2	5904025	nonsense	probably null
R6155:Dhtkd1	UTSW	2	5910359	missense	probably null	1.00
R6675:Dhtkd1	UTSW	2	5904078	missense	probably damaging	1.00
R6870:Dhtkd1	UTSW	2	5919437	splice site	probably null
R6899:Dhtkd1	UTSW	2	5917965	missense	possibly damaging	0.91
R7123:Dhtkd1	UTSW	2	5917780	missense	probably damaging	0.99
R7131:Dhtkd1	UTSW	2	5904070	missense	probably benign	0.23
R7366:Dhtkd1	UTSW	2	5917906	missense	probably benign	0.01
R7568:Dhtkd1	UTSW	2	5922087	splice site	probably null
R7731:Dhtkd1	UTSW	2	5924112	missense	probably benign	0.07
R7874:Dhtkd1	UTSW	2	5917674	missense	possibly damaging	0.72
R8081:Dhtkd1	UTSW	2	5924108	missense	probably damaging	1.00
R8340:Dhtkd1	UTSW	2	5919597	missense	probably damaging	0.98
R8378:Dhtkd1	UTSW	2	5917888	missense	probably benign
R8387:Dhtkd1	UTSW	2	5929668	missense	possibly damaging	0.90
R8768:Dhtkd1	UTSW	2	5898722	missense	probably benign	0.02
R9697:Dhtkd1	UTSW	2	5914840	missense	probably benign	0.00
R9784:Dhtkd1	UTSW	2	5930811	missense	probably benign	0.13
Z1088:Dhtkd1	UTSW	2	5911874	missense	possibly damaging	0.84
Z1177:Dhtkd1	UTSW	2	5942628	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGAACCATTCGGGGAGTAG -3'
(R):5'- ACTCCAATGCTGAGTGACCC -3'

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

Posted On

2016-09-01