Mutagenetix > Incidental Mutation

Incidental Mutation 'R9040:Dhodh'

713513

Institutional Source

Beutler Lab

Gene Symbol

Dhodh

Ensembl Gene

ENSMUSG00000031730

Gene Name

dihydroorotate dehydrogenase

Synonyms

2810417D19Rik

MMRRC Submission

068867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9040 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110319876-110335330 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to T at 110328781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000123605] [ENSMUST00000128350] [ENSMUST00000143900] [ENSMUST00000150804]

AlphaFold

O35435

Predicted Effect

probably benign
Transcript: ENSMUST00000123605

SMART Domains

Protein: ENSMUSP00000115934
Gene: ENSMUSG00000031730

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128350

SMART Domains

Protein: ENSMUSP00000118612
Gene: ENSMUSG00000031730

Domain	Start	End	E-Value	Type
Pfam:DHO_dh	36	103	2.2e-30	PFAM

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

probably benign
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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	C	8: 44,103,363 (GRCm39)		probably benign	Het
Agap1	T	C	1: 89,671,466 (GRCm39)	V391A	probably damaging	Het
Apba2	C	T	7: 64,393,072 (GRCm39)	A531V	possibly damaging	Het
Apcdd1	T	A	18: 63,070,414 (GRCm39)	V227E	probably damaging	Het
Bbs7	A	G	3: 36,629,987 (GRCm39)	V564A	probably benign	Het
Ccdc154	T	A	17: 25,382,793 (GRCm39)	M141K	possibly damaging	Het
Cd200l1	C	A	16: 45,264,509 (GRCm39)	K16N	possibly damaging	Het
Cdk9	C	A	2: 32,597,999 (GRCm39)	Q352H	probably benign	Het
Chsy3	T	C	18: 59,542,760 (GRCm39)	Y633H	probably damaging	Het
Cpz	T	A	5: 35,672,835 (GRCm39)	Y195F	possibly damaging	Het
Cyp3a16	T	C	5: 145,392,922 (GRCm39)	R128G	possibly damaging	Het
Dlec1	G	A	9: 118,950,985 (GRCm39)	S517N	probably benign	Het
Dock7	A	T	4: 98,889,364 (GRCm39)	L175*	probably null	Het
Duxf1	A	G	10: 58,059,608 (GRCm39)	I382T	unknown	Het
Ect2l	A	T	10: 18,077,098 (GRCm39)	S2T	possibly damaging	Het
Epn3	G	A	11: 94,382,749 (GRCm39)	S445F	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 141,794,171 (GRCm39)		probably benign	Het
Gm7298	T	C	6: 121,764,438 (GRCm39)	F1439S	probably benign	Het
Hormad1	A	T	3: 95,487,470 (GRCm39)	E289D	possibly damaging	Het
Idua	T	C	5: 108,828,929 (GRCm39)	L391P	probably damaging	Het
Kank2	G	T	9: 21,706,115 (GRCm39)	A301E	probably damaging	Het
Kcnk10	C	T	12: 98,401,098 (GRCm39)	E526K	probably benign	Het
Kif16b	T	C	2: 142,691,798 (GRCm39)	I229V	probably benign	Het
Krt25	T	C	11: 99,207,379 (GRCm39)	Y400C	probably benign	Het
Krt26	C	T	11: 99,222,093 (GRCm39)	G405S	probably benign	Het
Krt42	G	A	11: 100,157,859 (GRCm39)	R202W	probably damaging	Het
Lbr	A	G	1: 181,644,910 (GRCm39)	V547A	probably damaging	Het
Lrrc8b	T	C	5: 105,628,161 (GRCm39)	L169P	probably benign	Het
Midn	T	A	10: 79,989,918 (GRCm39)	V262D	probably damaging	Het
Mroh9	T	A	1: 162,890,069 (GRCm39)	I223F	probably benign	Het
Mtor	C	A	4: 148,548,205 (GRCm39)	A490E	probably benign	Het
Muc16	G	A	9: 18,556,082 (GRCm39)	Q3404*	probably null	Het
Myo5a	A	T	9: 75,081,341 (GRCm39)	E975D	probably benign	Het
Ncoa7	T	C	10: 30,530,389 (GRCm39)	Y764C	probably benign	Het
Nedd4l	T	C	18: 65,342,734 (GRCm39)	L769P	probably damaging	Het
Or11g25	G	T	14: 50,722,995 (GRCm39)	G27W	probably benign	Het
Pank4	C	G	4: 155,064,559 (GRCm39)	T706R	probably benign	Het
Plxnc1	G	T	10: 94,779,379 (GRCm39)	C354*	probably null	Het
Prkca	A	G	11: 107,905,186 (GRCm39)	I184T	possibly damaging	Het
Prune2	T	C	19: 17,097,991 (GRCm39)	V1165A	probably damaging	Het
Psmc6	T	A	14: 45,581,111 (GRCm39)	D302E	probably benign	Het
Rab11fip5	A	G	6: 85,324,915 (GRCm39)	L464P	probably damaging	Het
Reg1	A	T	6: 78,403,268 (GRCm39)		probably benign	Het
Rhbdf1	T	C	11: 32,163,063 (GRCm39)	T438A	probably benign	Het
Ryr2	T	C	13: 11,609,672 (GRCm39)	R4385G	probably damaging	Het
Ryr3	A	G	2: 112,784,731 (GRCm39)	Y237H	probably damaging	Het
Scai	G	T	2: 38,965,164 (GRCm39)	T560K	probably benign	Het
Scn1a	A	G	2: 66,148,245 (GRCm39)	L80P	probably damaging	Het
Sez6	T	C	11: 77,864,762 (GRCm39)	L574P	probably benign	Het
Slc41a1	T	G	1: 131,768,623 (GRCm39)	S194A	probably damaging	Het
Slc6a7	T	C	18: 61,134,360 (GRCm39)		probably benign	Het
Slit3	A	G	11: 35,594,136 (GRCm39)	H1442R	probably damaging	Het
Sra1	A	T	18: 36,808,790 (GRCm39)	L281Q	probably damaging	Het
Steap2	A	T	5: 5,732,722 (GRCm39)	W101R	probably benign	Het
Tfap2b	C	T	1: 19,304,314 (GRCm39)	R375W	probably damaging	Het
Tfr2	A	T	5: 137,572,967 (GRCm39)	T233S	probably benign	Het
Traf3ip1	T	A	1: 91,429,092 (GRCm39)	H286Q	probably damaging	Het
Ubash3a	A	G	17: 31,457,960 (GRCm39)		probably benign	Het
Vmn2r85	A	G	10: 130,254,311 (GRCm39)	I791T	probably damaging	Het
Zkscan4	T	C	13: 21,668,229 (GRCm39)	C256R	probably benign	Het
Zscan4-ps3	A	T	7: 11,346,638 (GRCm39)	N225Y	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
R3875:Dhodh	UTSW	8	110,321,592 (GRCm39)	missense	probably null	0.01
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
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'- TGGTGTGAAGATCTGCTGAC -3'
(R):5'- TGTGCACTCAGTAAAAGCACAG -3'

Sequencing Primer
(F):5'- CGTAGTAAATACTCACCCATCCCCTC -3'
(R):5'- AGGAAGGCCTTTCTACCCTTTG -3'

Posted On

2022-06-06