Mutagenetix > Incidental Mutation

Incidental Mutation 'R8359:Dhodh'

645920

Institutional Source

Beutler Lab

Gene Symbol

Dhodh

Ensembl Gene

ENSMUSG00000031730

Gene Name

dihydroorotate dehydrogenase

Synonyms

2810417D19Rik

MMRRC Submission

067872-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8359 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110319876-110335330 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 110333038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 12 (D12E)

Ref Sequence

ENSEMBL: ENSMUSP00000115934 (fasta)

Gene Model

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

AlphaFold

O35435

Predicted Effect

probably benign
Transcript: ENSMUST00000123605
AA Change: D12E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000115934
Gene: ENSMUSG00000031730
AA Change: D12E

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
AA Change: D12E

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117980
Gene: ENSMUSG00000031730
AA Change: D12E

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
AA Change: D10E

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115549
Gene: ENSMUSG00000031730
AA Change: D10E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,296,502 (GRCm39)	V315D	probably damaging	Het
Adgrf1	A	T	17: 43,621,286 (GRCm39)	I508F	probably damaging	Het
Atpaf2	T	C	11: 60,298,129 (GRCm39)	D147G	probably damaging	Het
Brwd1	T	C	16: 95,817,409 (GRCm39)	T1368A	probably damaging	Het
Cacna1s	A	T	1: 136,043,799 (GRCm39)	E1626V	probably benign	Het
Carm1	G	A	9: 21,480,765 (GRCm39)	V80I	possibly damaging	Het
Cenpw	T	A	10: 30,074,484 (GRCm39)	D71V	probably damaging	Het
Cit	T	A	5: 116,122,603 (GRCm39)		probably null	Het
Ckmt1	A	T	2: 121,193,531 (GRCm39)	T364S	probably benign	Het
Col6a4	T	C	9: 105,945,583 (GRCm39)	S844G	probably benign	Het
Crybg1	T	C	10: 43,868,538 (GRCm39)	E1380G	probably benign	Het
Cyp21a1	A	G	17: 35,021,105 (GRCm39)		probably null	Het
Dnali1	T	A	4: 124,957,460 (GRCm39)	T95S	probably damaging	Het
Dynlrb1	A	G	2: 155,091,870 (GRCm39)	N93D	probably benign	Het
Edem1	C	T	6: 108,823,774 (GRCm39)	A390V	probably benign	Het
Enthd1	T	C	15: 80,358,356 (GRCm39)	D388G	probably benign	Het
Fam170a	A	G	18: 50,414,677 (GRCm39)	T108A	probably damaging	Het
Fryl	A	G	5: 73,233,276 (GRCm39)	S1531P	probably benign	Het
Golm2	A	T	2: 121,697,632 (GRCm39)		probably benign	Het
Hspbap1	C	A	16: 35,645,366 (GRCm39)	N350K	probably benign	Het
Htr3b	A	C	9: 48,858,596 (GRCm39)	S94R	probably damaging	Het
Ide	A	T	19: 37,307,886 (GRCm39)	V42E		Het
Igf2r	A	G	17: 12,902,748 (GRCm39)	V2434A	probably benign	Het
Katnip	T	C	7: 125,468,023 (GRCm39)		probably null	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Mccc1	C	T	3: 36,018,493 (GRCm39)	V614I	probably benign	Het
Mos	A	G	4: 3,871,097 (GRCm39)	Y240H	probably damaging	Het
Myh11	C	T	16: 14,026,095 (GRCm39)		probably null	Het
Nexn	T	A	3: 151,953,998 (GRCm39)	D166V	probably damaging	Het
Or10h1b	G	A	17: 33,395,895 (GRCm39)	C173Y	probably damaging	Het
Or2t47	G	T	11: 58,443,029 (GRCm39)	T12N	probably benign	Het
Or4p4	A	T	2: 88,483,332 (GRCm39)	M279L	probably benign	Het
Or5p81	T	A	7: 108,267,518 (GRCm39)	N298K	probably benign	Het
Pkp4	A	G	2: 59,180,895 (GRCm39)	Y1061C	probably damaging	Het
Pla2g6	T	C	15: 79,171,370 (GRCm39)	D740G	probably damaging	Het
Pla2r1	T	A	2: 60,273,627 (GRCm39)	I920L	probably benign	Het
Plekha2	A	G	8: 25,578,407 (GRCm39)	I31T	probably damaging	Het
Ppp1r16b	G	T	2: 158,603,295 (GRCm39)	V407L	probably benign	Het
Prss50	A	G	9: 110,691,370 (GRCm39)	I225V	probably damaging	Het
Rmdn2	A	T	17: 79,935,580 (GRCm39)	E231V		Het
Sema3c	T	C	5: 17,858,726 (GRCm39)	S42P	possibly damaging	Het
Sh2d1b1	T	A	1: 170,110,693 (GRCm39)		probably null	Het
Slc22a20	T	C	19: 6,021,554 (GRCm39)	I483V	probably benign	Het
Slc30a2	T	C	4: 134,076,690 (GRCm39)	V275A	probably damaging	Het
Slc6a3	T	A	13: 73,693,002 (GRCm39)	F207L	probably benign	Het
Slc9a1	A	T	4: 133,147,927 (GRCm39)	Q648H	probably damaging	Het
Slpi	A	T	2: 164,197,975 (GRCm39)	M1K	probably null	Het
Smc5	A	C	19: 23,211,443 (GRCm39)	S564A	possibly damaging	Het
Smchd1	A	T	17: 71,738,238 (GRCm39)	F542L	probably damaging	Het
Sycp1	T	A	3: 102,727,909 (GRCm39)	K901N	probably damaging	Het
Synpo2l	T	A	14: 20,716,208 (GRCm39)	T126S	probably benign	Het
Upp2	A	G	2: 58,667,955 (GRCm39)	N216S	probably benign	Het
Wnk1	T	C	6: 119,969,408 (GRCm39)	D349G	probably damaging	Het
Zfp180	C	T	7: 23,804,337 (GRCm39)	A252V	probably benign	Het
Zfr2	C	T	10: 81,078,653 (GRCm39)	T295I	possibly damaging	Het
Zkscan16	C	T	4: 58,957,230 (GRCm39)	T504I	possibly damaging	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
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'- TCCTGAAACGTAGCTCGAGG -3'
(R):5'- GAAAATCCCCTGGCAGATCC -3'

Sequencing Primer
(F):5'- TCGAGGAAGGAGCCCCAG -3'
(R):5'- TACAGCCTCTACAAAGACTGGTGTG -3'

Posted On

2020-09-02