Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Dhtkd1'

30575

Institutional Source

Beutler Lab

Gene Symbol

Dhtkd1

Ensembl Gene

ENSMUSG00000025815

Gene Name

dehydrogenase E1 and transketolase domain containing 1

Synonyms

C330018I04Rik

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5896115-5942792 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5911870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 665 (Q665P)

Ref Sequence

ENSEMBL: ENSMUSP00000092769 (fasta)

Gene Model

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

AlphaFold

A2ATU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000026924
AA Change: Q665P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: Q665P

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: Q665P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: Q665P

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: ENSMUST00000155977

Predicted Effect

probably damaging
Transcript: ENSMUST00000169865
AA Change: Q665P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129194
Gene: ENSMUSG00000025815
AA Change: Q665P

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	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

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426		probably benign	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myh15	A	G	16: 49,182,959	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	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
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
R5437:Dhtkd1	UTSW	2	5924119	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'- ACGATACTCTTCTTCCCAGAAGCCC -3'
(R):5'- TGAAGGCAAATTGCCGACCTGAC -3'

Sequencing Primer
(F):5'- TTCAACGGCCTGACAGC -3'
(R):5'- CCCAGAGGTTTATATCCCTGC -3'

Posted On

2013-04-24