Mutagenetix > Incidental Mutation

Incidental Mutation 'R7731:Dhtkd1'

595803

Institutional Source

Beutler Lab

Gene Symbol

Dhtkd1

Ensembl Gene

ENSMUSG00000025815

Gene Name

dehydrogenase E1 and transketolase domain containing 1

Synonyms

C330018I04Rik

MMRRC Submission

045787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5901030-5947648 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5928923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 249 (L249F)

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: L249F

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000026924
Gene: ENSMUSG00000025815
AA Change: L249F

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: L249F

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092769
Gene: ENSMUSG00000025815
AA Change: L249F

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: 99.9%
10x: 99.7%
20x: 99.3%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,470 (GRCm39)	E210G	possibly damaging	Het
Accsl	T	C	2: 93,691,363 (GRCm39)	T372A	probably benign	Het
Adgrf5	T	A	17: 43,761,451 (GRCm39)	S1049T	probably damaging	Het
Agmo	G	A	12: 37,464,939 (GRCm39)	R405K	probably benign	Het
Akap3	A	G	6: 126,842,031 (GRCm39)	T217A	probably benign	Het
Ankfy1	T	A	11: 72,603,107 (GRCm39)	N45K	probably benign	Het
Ankrd11	G	A	8: 123,622,172 (GRCm39)	T560I	probably benign	Het
Aqp1	T	C	6: 55,322,804 (GRCm39)	Y186H	possibly damaging	Het
Arhgef18	G	A	8: 3,434,936 (GRCm39)	V194M	probably damaging	Het
Arnt	T	C	3: 95,391,086 (GRCm39)	V320A	probably benign	Het
B230217C12Rik	T	C	11: 97,732,226 (GRCm39)	L2P	unknown	Het
Bco1	C	A	8: 117,857,807 (GRCm39)	S477R	possibly damaging	Het
Brd4	A	G	17: 32,430,198 (GRCm39)	S703P	possibly damaging	Het
Ceacam3	T	A	7: 16,892,275 (GRCm39)	N339K		Het
Cebpb	A	G	2: 167,531,126 (GRCm39)	D62G	probably damaging	Het
Clca4a	T	C	3: 144,658,546 (GRCm39)	I890V	probably benign	Het
Cyp2d9	A	G	15: 82,339,633 (GRCm39)		probably null	Het
Cyth1	T	C	11: 118,059,879 (GRCm39)	T374A	possibly damaging	Het
Dennd3	A	T	15: 73,434,216 (GRCm39)	H962L	probably damaging	Het
Dnah7b	T	A	1: 46,178,905 (GRCm39)	H859Q	probably benign	Het
E2f4	A	G	8: 106,025,265 (GRCm39)	D115G	probably damaging	Het
Eif4a3l1	A	G	6: 136,305,871 (GRCm39)	I111V	probably benign	Het
Exoc3l4	G	C	12: 111,397,182 (GRCm39)	D688H	possibly damaging	Het
Fan1	C	T	7: 64,022,444 (GRCm39)	V270I	probably benign	Het
Fat2	A	T	11: 55,201,532 (GRCm39)	I514N	probably damaging	Het
Fndc1	G	A	17: 7,992,271 (GRCm39)	T475I	unknown	Het
Fstl5	T	A	3: 76,569,069 (GRCm39)	I574N	probably damaging	Het
Fzd4	T	C	7: 89,057,258 (GRCm39)	V435A	possibly damaging	Het
Fzd6	T	C	15: 38,897,327 (GRCm39)	F492S	probably damaging	Het
Gm4924	T	A	10: 82,213,361 (GRCm39)	N386K	unknown	Het
Hbp1	A	T	12: 31,983,367 (GRCm39)	D362E	possibly damaging	Het
Hectd4	A	C	5: 121,445,077 (GRCm39)	M105L	probably benign	Het
Hivep2	C	T	10: 14,025,458 (GRCm39)	P2424L	probably benign	Het
Hspa4	A	T	11: 53,157,791 (GRCm39)		probably null	Het
Igf2bp3	A	G	6: 49,111,665 (GRCm39)	V122A	probably damaging	Het
Ikzf2	A	T	1: 69,578,302 (GRCm39)	N402K	possibly damaging	Het
Ip6k1	T	C	9: 107,921,927 (GRCm39)	F207S	probably damaging	Het
Kbtbd8	C	A	6: 95,095,559 (GRCm39)	N24K	probably benign	Het
Krtap10-4	T	G	10: 77,662,654 (GRCm39)	T75P	unknown	Het
Macf1	C	A	4: 123,338,672 (GRCm39)	S4355I	probably benign	Het
Muc5b	A	T	7: 141,411,042 (GRCm39)		probably null	Het
Myo3a	G	A	2: 22,287,400 (GRCm39)	V179M	probably damaging	Het
Nup210	G	T	6: 91,048,870 (GRCm39)	T462K	possibly damaging	Het
Or11g27	T	A	14: 50,771,141 (GRCm39)	S91T	probably damaging	Het
Or1l4	A	G	2: 37,091,561 (GRCm39)	M103V	probably benign	Het
Or51f5	A	G	7: 102,424,141 (GRCm39)	I137V	probably benign	Het
Or5j1	T	C	2: 86,879,578 (GRCm39)	M1V	probably null	Het
Or8b53	A	G	9: 38,667,542 (GRCm39)	Q186R	possibly damaging	Het
Ostn	G	A	16: 27,165,668 (GRCm39)	R119Q	probably damaging	Het
Pcdhga11	A	T	18: 37,889,564 (GRCm39)	N191Y	probably benign	Het
Pcsk6	A	T	7: 65,683,641 (GRCm39)	Q752L	probably benign	Het
Pfas	T	C	11: 68,890,871 (GRCm39)	T347A	probably damaging	Het
Pkd1	A	T	17: 24,792,872 (GRCm39)	R1520W	probably damaging	Het
Pphln1-ps1	C	T	16: 13,495,623 (GRCm39)	R241C	probably damaging	Het
Prpf8	T	C	11: 75,399,732 (GRCm39)	S2264P	probably damaging	Het
Ptcd1	C	A	5: 145,088,174 (GRCm39)	R612S	probably benign	Het
Ptch2	T	A	4: 116,965,492 (GRCm39)	F359Y	probably benign	Het
Ptprr	A	C	10: 116,073,200 (GRCm39)	D474A	probably damaging	Het
Pum1	C	A	4: 130,490,274 (GRCm39)	Q846K	probably benign	Het
Slc22a14	C	T	9: 118,999,677 (GRCm39)	A505T	possibly damaging	Het
Smpdl3a	A	G	10: 57,678,650 (GRCm39)	Y151C	probably damaging	Het
Snrnp200	A	G	2: 127,071,022 (GRCm39)	N1101S	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Sptlc1	A	G	13: 53,487,993 (GRCm39)	V450A	probably benign	Het
Sqle	A	G	15: 59,187,821 (GRCm39)	Y43C	probably benign	Het
Srgap3	T	C	6: 112,743,858 (GRCm39)	H460R	probably benign	Het
Syt15	A	T	14: 33,945,024 (GRCm39)	E190D	possibly damaging	Het
Tbc1d10b	T	C	7: 126,797,993 (GRCm39)	K716R	probably benign	Het
Tbx20	T	C	9: 24,681,993 (GRCm39)	I120M	probably damaging	Het
Tgm1	T	G	14: 55,947,978 (GRCm39)	I274L	probably benign	Het
Tmem156	C	T	5: 65,232,905 (GRCm39)		probably null	Het
Tnk2	A	G	16: 32,488,952 (GRCm39)	D264G	possibly damaging	Het
Tsc22d4	A	G	5: 137,756,956 (GRCm39)	S306G	possibly damaging	Het
Tut1	T	A	19: 8,936,626 (GRCm39)	V150D	probably benign	Het
Uchl5	T	C	1: 143,670,275 (GRCm39)	F143L		Het
Vmn1r23	T	C	6: 57,903,319 (GRCm39)	K153R	probably benign	Het
Zfp236	A	T	18: 82,698,798 (GRCm39)	D94E	probably benign	Het
Zfp759	T	C	13: 67,287,690 (GRCm39)	Y414H	possibly 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
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'- CAGGCTGAGCAGAACCATTC -3'
(R):5'- TGAGTGACCCAGCAGTTAGAG -3'

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

Posted On

2019-11-12