Mutagenetix > Incidental Mutation

Incidental Mutation 'R3875:Dhodh'

276794

Institutional Source

Beutler Lab

Gene Symbol

Dhodh

Ensembl Gene

ENSMUSG00000031730

Gene Name

dihydroorotate dehydrogenase

Synonyms

2810417D19Rik

MMRRC Submission

068967-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110319876-110335330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110321592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 310 (D310G)

Ref Sequence

ENSEMBL: ENSMUSP00000115934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123605] [ENSMUST00000143900] [ENSMUST00000150804]

AlphaFold

O35435

Predicted Effect

probably null
Transcript: ENSMUST00000069058
AA Change: D310G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000070303
Gene: ENSMUSG00000031730
AA Change: D310G

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DHO_dh	77	377	1.1e-116	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123605
AA Change: D310G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000115934
Gene: ENSMUSG00000031730
AA Change: D310G

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DHO_dh	77	377	2e-117	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125779

Predicted Effect

probably benign
Transcript: ENSMUST00000133353

SMART Domains

Protein: ENSMUSP00000114190
Gene: ENSMUSG00000031730

Domain	Start	End	E-Value	Type
Pfam:DHO_dh	8	85	2.6e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142106

Predicted Effect

probably null
Transcript: ENSMUST00000143900

SMART Domains

Protein: ENSMUSP00000117980
Gene: ENSMUSG00000031730

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
Pfam:DHO_dh	77	277	1.8e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150804

SMART Domains

Protein: ENSMUSP00000115549
Gene: ENSMUSG00000031730

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
Pfam:DHO_dh	75	162	7.2e-32	PFAM

Meta Mutation Damage Score

0.2749

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,276,000 (GRCm39)	S72P	probably benign	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Adgrg2	A	G	X: 159,261,992 (GRCm39)	S337G	probably benign	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Cacna1g	G	A	11: 94,328,749 (GRCm39)	T1033I	probably damaging	Het
Car12	C	A	9: 66,624,834 (GRCm39)		probably benign	Het
Cpne1	G	A	2: 155,918,202 (GRCm39)	H352Y	probably damaging	Het
D630039A03Rik	T	A	4: 57,910,606 (GRCm39)	T69S	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Drd5	T	G	5: 38,477,157 (GRCm39)	V50G	possibly damaging	Het
Dst	C	A	1: 34,210,328 (GRCm39)	H934Q	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Far2	G	A	6: 148,052,089 (GRCm39)	E123K	probably benign	Het
Fbxo43	A	T	15: 36,162,249 (GRCm39)	F319L	probably benign	Het
Flii	T	C	11: 60,611,318 (GRCm39)	S418G	probably benign	Het
Glyctk	T	A	9: 106,034,820 (GRCm39)	Y82F	probably damaging	Het
Gm11353	G	T	13: 26,676,651 (GRCm39)		noncoding transcript	Het
Gm6505	T	A	3: 28,819,286 (GRCm39)		noncoding transcript	Het
Gpr151	A	G	18: 42,711,661 (GRCm39)	V339A	probably benign	Het
H2-T22	T	C	17: 36,351,195 (GRCm39)	I296V	probably benign	Het
Igfn1	T	C	1: 135,882,352 (GRCm39)	N2831S	probably damaging	Het
Igkv13-85	A	G	6: 68,907,484 (GRCm39)	V39A	probably damaging	Het
Irx5	A	G	8: 93,086,793 (GRCm39)	T242A	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Mcoln1	A	G	8: 3,558,355 (GRCm39)	D203G	probably benign	Het
Mlph	T	C	1: 90,855,844 (GRCm39)	C57R	probably damaging	Het
Myh13	C	A	11: 67,249,020 (GRCm39)	H1275Q	probably benign	Het
Nbeal1	T	A	1: 60,233,758 (GRCm39)		probably benign	Het
Orc5	T	A	5: 22,742,564 (GRCm39)	M115L	probably benign	Het
Pcdha6	T	A	18: 37,101,119 (GRCm39)	I104N	probably damaging	Het
Plcb4	T	C	2: 135,844,552 (GRCm39)	S157P	probably damaging	Het
Polq	A	G	16: 36,894,389 (GRCm39)	D1787G	probably damaging	Het
Prkar2b	T	G	12: 32,015,122 (GRCm39)	I142L	probably benign	Het
Ptprq	A	G	10: 107,520,965 (GRCm39)	S736P	possibly damaging	Het
Qrich2	A	T	11: 116,336,477 (GRCm39)	V2046D	probably damaging	Het
Rad21	A	T	15: 51,833,361 (GRCm39)	F373I	probably damaging	Het
Rcvrn	A	G	11: 67,590,880 (GRCm39)	I155V	probably benign	Het
Rsrc2	C	T	5: 123,874,691 (GRCm39)		probably benign	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Ssc5d	A	T	7: 4,930,261 (GRCm39)	D114V	probably damaging	Het
St6gal2	C	A	17: 55,789,698 (GRCm39)	P244Q	probably benign	Het
Tarbp1	A	G	8: 127,165,538 (GRCm39)		probably benign	Het
Tmem221	T	C	8: 72,008,399 (GRCm39)		probably null	Het
Trh	A	T	6: 92,220,679 (GRCm39)	V61E	possibly damaging	Het
Trim32	A	T	4: 65,531,703 (GRCm39)	I87F	possibly damaging	Het
Tti2	A	G	8: 31,641,175 (GRCm39)	K100E	probably benign	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vps13d	A	G	4: 144,917,114 (GRCm39)	Y17H	probably damaging	Het
Zfp106	T	C	2: 120,365,094 (GRCm39)	K438E	probably benign	Het
Zfp60	T	C	7: 27,449,006 (GRCm39)	I558T	probably damaging	Het
Zzef1	A	C	11: 72,779,866 (GRCm39)	I1880L	probably benign	Het

Other mutations in Dhodh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02386:Dhodh	APN	8	110,321,396 (GRCm39)	missense	probably damaging	1.00
IGL02514:Dhodh	APN	8	110,332,896 (GRCm39)	nonsense	probably null
R2268:Dhodh	UTSW	8	110,321,306 (GRCm39)	missense	possibly damaging	0.94
R3405:Dhodh	UTSW	8	110,330,107 (GRCm39)	nonsense	probably null
R3406:Dhodh	UTSW	8	110,330,107 (GRCm39)	nonsense	probably null
R4694:Dhodh	UTSW	8	110,333,048 (GRCm39)	missense	probably damaging	1.00
R4709:Dhodh	UTSW	8	110,328,170 (GRCm39)	splice site	probably null
R5130:Dhodh	UTSW	8	110,322,388 (GRCm39)	missense	possibly damaging	0.75
R5215:Dhodh	UTSW	8	110,332,975 (GRCm39)	unclassified	probably benign
R5880:Dhodh	UTSW	8	110,321,409 (GRCm39)	missense	probably benign
R8120:Dhodh	UTSW	8	110,328,057 (GRCm39)	missense	probably benign	0.05
R8359:Dhodh	UTSW	8	110,333,038 (GRCm39)	missense	probably benign	0.04
R8827:Dhodh	UTSW	8	110,334,928 (GRCm39)	intron	probably benign
R9040:Dhodh	UTSW	8	110,328,781 (GRCm39)	critical splice donor site	probably benign
R9082:Dhodh	UTSW	8	110,322,734 (GRCm39)	missense	probably damaging	1.00
R9531:Dhodh	UTSW	8	110,321,623 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGATGGGAATCGTGCCTGC -3'
(R):5'- TCCGGTCAAGATGTAGGTGAGG -3'

Sequencing Primer
(F):5'- AATCGTGCCTGCAGAGAGC -3'
(R):5'- CCTGTGAGAGTCTTGGTTTCC -3'

Posted On

2015-04-06