Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:Dhtkd1'

571771

Institutional Source

Beutler Lab

Gene Symbol

Dhtkd1

Ensembl Gene

ENSMUSG00000025815

Gene Name

dehydrogenase E1 and transketolase domain containing 1

Synonyms

C330018I04Rik

MMRRC Submission

045450-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5901030-5947648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5922717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 481 (I481L)

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: I481L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: I481L

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: I481L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: I481L

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

Meta Mutation Damage Score

0.1082

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 73,203,303 (GRCm39)	P244S	possibly damaging	Het
4930562C15Rik	A	G	16: 4,653,633 (GRCm39)	I61V	unknown	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Acbd3	A	G	1: 180,562,064 (GRCm39)	E181G	probably benign	Het
Ano3	T	C	2: 110,587,412 (GRCm39)	Y43C	probably damaging	Het
Aspa	T	A	11: 73,210,716 (GRCm39)		probably null	Het
AU018091	A	T	7: 3,206,170 (GRCm39)	N620K	probably damaging	Het
Bicc1	G	T	10: 70,779,216 (GRCm39)	T724K	probably benign	Het
Bmper	T	C	9: 23,395,300 (GRCm39)	I677T	probably damaging	Het
C3	T	A	17: 57,528,162 (GRCm39)	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,887,332 (GRCm39)	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,339,541 (GRCm39)	E462*	probably null	Het
Ccdc88c	C	A	12: 100,911,209 (GRCm39)	R875L	possibly damaging	Het
Cd177	C	T	7: 24,456,147 (GRCm39)	G207D	probably damaging	Het
Cdh23	A	T	10: 60,151,471 (GRCm39)	Y2471*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cmbl	A	T	15: 31,590,002 (GRCm39)	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919 (GRCm39)	V448A	probably damaging	Het
Ddr2	A	G	1: 169,825,533 (GRCm39)	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,228,849 (GRCm39)	I534V	probably benign	Het
Dlst	A	T	12: 85,175,089 (GRCm39)	I260L	probably benign	Het
Dnajc13	T	G	9: 104,061,905 (GRCm39)	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,184,943 (GRCm39)	Y520C	probably damaging	Het
Dr1	C	A	5: 108,423,594 (GRCm39)	A127E	unknown	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770 (GRCm39)	C628R	probably damaging	Het
Edem3	T	A	1: 151,688,365 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,098,944 (GRCm39)		probably null	Het
Fam20a	T	A	11: 109,564,168 (GRCm39)	Q528H	possibly damaging	Het
Fanca	T	C	8: 124,007,952 (GRCm39)	E981G	probably benign	Het
Fbp2	A	G	13: 62,985,012 (GRCm39)	V303A	possibly damaging	Het
Flii	C	T	11: 60,611,945 (GRCm39)	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,676,584 (GRCm39)	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525 (GRCm38)	H72L	probably benign	Het
Gm5114	T	G	7: 39,058,768 (GRCm39)	T284P	possibly damaging	Het
Gm7168	T	C	17: 14,170,147 (GRCm39)	S505P	probably damaging	Het
Gnal	T	C	18: 67,344,142 (GRCm39)	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,294,603 (GRCm39)	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Il3	T	A	11: 54,156,709 (GRCm39)	R93S	probably benign	Het
Itsn1	A	G	16: 91,705,338 (GRCm39)	E1573G	unknown	Het
Kif26a	G	A	12: 112,129,976 (GRCm39)		probably null	Het
Klb	T	C	5: 65,529,774 (GRCm39)	M434T	probably damaging	Het
Lrp2	T	A	2: 69,314,150 (GRCm39)	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mak16	A	G	8: 31,656,127 (GRCm39)	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,745,192 (GRCm39)	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,164,580 (GRCm39)	I1186V	probably benign	Het
Mboat1	T	A	13: 30,386,345 (GRCm39)	C120S	possibly damaging	Het
Mctp2	T	A	7: 71,908,962 (GRCm39)	D117V	probably benign	Het
Mocos	C	A	18: 24,809,673 (GRCm39)	N425K	probably damaging	Het
Nav2	A	G	7: 49,203,951 (GRCm39)		probably null	Het
Ngfr	A	T	11: 95,465,255 (GRCm39)	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,479,608 (GRCm39)	S596G	probably damaging	Het
Or2ag1	G	T	7: 106,472,603 (GRCm39)	P283Q	probably damaging	Het
Or51g1	A	T	7: 102,633,723 (GRCm39)	I216K	probably damaging	Het
Or52e3	T	G	7: 102,869,740 (GRCm39)	Y272D	probably benign	Het
Or5v1b	T	A	17: 37,841,708 (GRCm39)	V280D	probably damaging	Het
Or6b3	A	G	1: 92,439,400 (GRCm39)	S117P	possibly damaging	Het
Pithd1	T	C	4: 135,714,361 (GRCm39)	Y29C	probably benign	Het
Plcb3	T	C	19: 6,939,389 (GRCm39)	T530A	probably benign	Het
Prss40	A	T	1: 34,598,952 (GRCm39)	Y70*	probably null	Het
Ralgps1	T	C	2: 33,214,700 (GRCm39)	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,113,410 (GRCm39)	R36H	possibly damaging	Het
Rnf125	A	G	18: 21,107,490 (GRCm39)	N7S	not run	Het
Rpe65	G	A	3: 159,330,366 (GRCm39)	S511N	probably benign	Het
Rspo4	A	T	2: 151,709,793 (GRCm39)	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,071,573 (GRCm39)	S437P	probably benign	Het
Sele	C	A	1: 163,876,288 (GRCm39)	R12S	probably benign	Het
Sgo2b	T	A	8: 64,391,451 (GRCm39)	K139*	probably null	Het
Shroom3	C	A	5: 93,112,465 (GRCm39)	S1942*	probably null	Het
Slc12a9	G	A	5: 137,326,885 (GRCm39)	R191*	probably null	Het
Spag9	G	T	11: 93,999,347 (GRCm39)	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,650,968 (GRCm39)	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,360,823 (GRCm39)		probably null	Het
Sult2a8	A	T	7: 14,150,254 (GRCm39)		probably null	Het
Synpo2	A	G	3: 122,907,690 (GRCm39)	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,881,914 (GRCm39)		probably null	Het
Tektip1	T	C	10: 81,200,025 (GRCm39)	D165G	possibly damaging	Het
Tenm2	T	C	11: 35,960,241 (GRCm39)	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,478,897 (GRCm39)	N62K	probably damaging	Het
Tollip	A	G	7: 141,443,334 (GRCm39)	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,313,027 (GRCm39)	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,258,713 (GRCm39)	S58P	probably benign	Het
Ttc9b	T	C	7: 27,354,384 (GRCm39)	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,199,871 (GRCm39)	Y185C	probably damaging	Het
Ubr2	C	T	17: 47,266,771 (GRCm39)	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Yipf3	T	A	17: 46,559,855 (GRCm39)	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,289,606 (GRCm39)	C19G	probably damaging	Het
Zfp735	A	T	11: 73,602,979 (GRCm39)	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,389,571 (GRCm39)	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,184,671 (GRCm39)		probably null	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
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

PCR Primer
(F):5'- CATCTTTAGAAGGTGGCTGTGC -3'
(R):5'- GATGATGACCTCCTGCAGTG -3'

Sequencing Primer
(F):5'- TGGAACCTCCACGGACTTC -3'
(R):5'- GACCTCCTGCAGTGCTCTTGG -3'

Posted On

2019-09-13