Mutagenetix > Incidental Mutation

Incidental Mutation 'R4522:Xdh'

334279

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

Xox-1, XO, Xor, Xox1, xanthine oxidase

MMRRC Submission

041765-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R4522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74190890-74257191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74205339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 1042 (G1042V)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024866]

AlphaFold

Q00519

Predicted Effect

probably damaging
Transcript: ENSMUST00000024866
AA Change: G1042V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: G1042V

Domain	Start	End	E-Value	Type
Pfam:Fer2	11	81	5e-12	PFAM
Pfam:Fer2_2	90	163	4.1e-31	PFAM
low complexity region	169	182	N/A	INTRINSIC
Pfam:FAD_binding_5	234	414	4.9e-47	PFAM
CO_deh_flav_C	421	525	1.16e-24	SMART
Ald_Xan_dh_C	590	696	1.23e-46	SMART
Pfam:Ald_Xan_dh_C2	704	1239	1e-200	PFAM

Meta Mutation Damage Score

0.9595

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the xanthine dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein exists as two distinct enzymatic forms, either as xanthine dehydrogenase, or as xanthine oxidase, and functions in purine degradation. Additional studies also suggest a role in adipogenesis, and a function as a structural protein in milk fat droplets in the lactating mammary gland. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,536,766 (GRCm39)	N700D	probably benign	Het
Babam2	G	A	5: 32,164,586 (GRCm39)	V287M	probably damaging	Het
Brip1	T	C	11: 86,080,627 (GRCm39)	I146M	possibly damaging	Het
Cacna1b	C	T	2: 24,544,442 (GRCm39)	R1248H	probably damaging	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Cfap47	A	T	X: 78,553,601 (GRCm39)	N291K	possibly damaging	Het
Chaf1b	G	A	16: 93,698,183 (GRCm39)	A485T	probably benign	Het
Dock7	T	C	4: 98,850,461 (GRCm39)	R1594G	probably damaging	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Gm3739	T	A	14: 18,505,267 (GRCm39)	K86*	probably null	Het
Mark2	A	T	19: 7,263,313 (GRCm39)	D151E	probably damaging	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Nwd1	A	T	8: 73,397,579 (GRCm39)	D606V	probably damaging	Het
Or8w1	T	A	2: 87,465,495 (GRCm39)	I199L	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcbp1	T	C	6: 86,502,032 (GRCm39)	N289S	probably benign	Het
Plce1	T	C	19: 38,512,763 (GRCm39)	S21P	possibly damaging	Het
Ptpn18	T	C	1: 34,512,041 (GRCm39)	L55P	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec23b	T	A	2: 144,420,286 (GRCm39)	I450N	possibly damaging	Het
Speg	A	G	1: 75,404,974 (GRCm39)	E2922G	probably damaging	Het
Spem1	C	A	11: 69,712,631 (GRCm39)		probably null	Het
Stxbp3-ps	A	T	19: 9,536,474 (GRCm39)		noncoding transcript	Het
Tmem38a	C	T	8: 73,326,005 (GRCm39)	P20S	possibly damaging	Het
Tmod2	T	C	9: 75,499,866 (GRCm39)	T129A	probably benign	Het
Ttc28	A	G	5: 111,428,038 (GRCm39)	T1845A	probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Ush2a	C	T	1: 188,596,822 (GRCm39)	T3854M	probably damaging	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Zfp105	T	A	9: 122,759,121 (GRCm39)	V264E	possibly damaging	Het

Other mutations in Xdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Xdh	APN	17	74,230,101 (GRCm39)	missense	possibly damaging	0.58
IGL00556:Xdh	APN	17	74,191,430 (GRCm39)	makesense	probably null
IGL01524:Xdh	APN	17	74,230,132 (GRCm39)	critical splice acceptor site	probably null
IGL01604:Xdh	APN	17	74,216,332 (GRCm39)	missense	probably benign	0.02
IGL01625:Xdh	APN	17	74,223,781 (GRCm39)	critical splice donor site	probably null
IGL01778:Xdh	APN	17	74,207,275 (GRCm39)	missense	probably benign	0.00
IGL01804:Xdh	APN	17	74,199,754 (GRCm39)	missense	probably damaging	1.00
IGL01825:Xdh	APN	17	74,198,240 (GRCm39)	missense	probably damaging	1.00
IGL01929:Xdh	APN	17	74,241,850 (GRCm39)	missense	probably damaging	1.00
IGL02068:Xdh	APN	17	74,220,945 (GRCm39)	missense	probably damaging	1.00
IGL02079:Xdh	APN	17	74,198,272 (GRCm39)	missense	probably damaging	1.00
IGL02210:Xdh	APN	17	74,250,890 (GRCm39)	missense	probably benign	0.00
IGL02261:Xdh	APN	17	74,220,960 (GRCm39)	missense	possibly damaging	0.81
IGL02365:Xdh	APN	17	74,250,885 (GRCm39)	missense	probably benign	0.14
IGL02424:Xdh	APN	17	74,233,565 (GRCm39)	missense	probably benign	0.00
IGL02491:Xdh	APN	17	74,193,459 (GRCm39)	missense	probably damaging	0.99
IGL02525:Xdh	APN	17	74,231,990 (GRCm39)	missense	possibly damaging	0.91
IGL02578:Xdh	APN	17	74,213,241 (GRCm39)	missense	probably damaging	1.00
IGL02793:Xdh	APN	17	74,207,576 (GRCm39)	missense	probably damaging	1.00
IGL02939:Xdh	APN	17	74,250,840 (GRCm39)	critical splice donor site	probably null
IGL03327:Xdh	APN	17	74,223,787 (GRCm39)	missense	probably benign
IGL03345:Xdh	APN	17	74,213,027 (GRCm39)	missense	probably damaging	0.98
IGL03353:Xdh	APN	17	74,202,781 (GRCm39)	missense	possibly damaging	0.65
inky	UTSW	17	74,228,346 (GRCm39)	missense	probably damaging	1.00
nucleus	UTSW	17	74,206,007 (GRCm39)	nonsense	probably null
squidgame	UTSW	17	74,246,831 (GRCm39)	missense	probably benign
R0018:Xdh	UTSW	17	74,232,020 (GRCm39)	missense	probably benign	0.00
R0018:Xdh	UTSW	17	74,232,020 (GRCm39)	missense	probably benign	0.00
R0033:Xdh	UTSW	17	74,214,627 (GRCm39)	missense	probably benign	0.06
R0079:Xdh	UTSW	17	74,198,213 (GRCm39)	missense	probably damaging	1.00
R0086:Xdh	UTSW	17	74,191,433 (GRCm39)	missense	probably benign
R0319:Xdh	UTSW	17	74,213,096 (GRCm39)	splice site	probably benign
R0336:Xdh	UTSW	17	74,229,458 (GRCm39)	missense	possibly damaging	0.91
R0389:Xdh	UTSW	17	74,205,357 (GRCm39)	missense	probably damaging	1.00
R0684:Xdh	UTSW	17	74,250,886 (GRCm39)	missense	probably damaging	0.97
R0930:Xdh	UTSW	17	74,230,077 (GRCm39)	missense	probably benign	0.00
R1073:Xdh	UTSW	17	74,246,831 (GRCm39)	missense	probably benign
R1114:Xdh	UTSW	17	74,248,144 (GRCm39)	splice site	probably benign
R1201:Xdh	UTSW	17	74,225,413 (GRCm39)	missense	probably benign	0.05
R1230:Xdh	UTSW	17	74,198,251 (GRCm39)	missense	probably damaging	1.00
R1351:Xdh	UTSW	17	74,230,073 (GRCm39)	missense	probably benign	0.02
R1470:Xdh	UTSW	17	74,198,107 (GRCm39)	missense	probably damaging	1.00
R1470:Xdh	UTSW	17	74,198,107 (GRCm39)	missense	probably damaging	1.00
R1485:Xdh	UTSW	17	74,221,014 (GRCm39)	nonsense	probably null
R1548:Xdh	UTSW	17	74,220,896 (GRCm39)	missense	probably damaging	0.98
R1637:Xdh	UTSW	17	74,207,573 (GRCm39)	missense	probably benign
R1641:Xdh	UTSW	17	74,233,547 (GRCm39)	missense	probably benign
R1758:Xdh	UTSW	17	74,217,204 (GRCm39)	missense	probably damaging	1.00
R1951:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R1969:Xdh	UTSW	17	74,199,746 (GRCm39)	missense	possibly damaging	0.55
R2024:Xdh	UTSW	17	74,228,300 (GRCm39)	missense	possibly damaging	0.92
R2080:Xdh	UTSW	17	74,216,320 (GRCm39)	missense	probably damaging	1.00
R2157:Xdh	UTSW	17	74,229,532 (GRCm39)	missense	probably damaging	1.00
R2300:Xdh	UTSW	17	74,198,260 (GRCm39)	missense	probably damaging	1.00
R3783:Xdh	UTSW	17	74,200,590 (GRCm39)	splice site	probably benign
R3796:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3797:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3798:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3799:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3819:Xdh	UTSW	17	74,213,720 (GRCm39)	missense	probably benign	0.35
R4085:Xdh	UTSW	17	74,223,874 (GRCm39)	missense	probably benign	0.35
R4240:Xdh	UTSW	17	74,202,790 (GRCm39)	missense	possibly damaging	0.72
R4356:Xdh	UTSW	17	74,222,685 (GRCm39)	missense	probably benign	0.01
R4523:Xdh	UTSW	17	74,205,339 (GRCm39)	missense	probably damaging	1.00
R4524:Xdh	UTSW	17	74,205,339 (GRCm39)	missense	probably damaging	1.00
R4600:Xdh	UTSW	17	74,217,195 (GRCm39)	missense	probably benign	0.19
R4617:Xdh	UTSW	17	74,225,389 (GRCm39)	missense	probably damaging	0.99
R4756:Xdh	UTSW	17	74,193,381 (GRCm39)	missense	probably benign	0.24
R4761:Xdh	UTSW	17	74,217,262 (GRCm39)	missense	possibly damaging	0.91
R4815:Xdh	UTSW	17	74,213,210 (GRCm39)	missense	probably damaging	1.00
R4850:Xdh	UTSW	17	74,205,330 (GRCm39)	missense	probably damaging	1.00
R4896:Xdh	UTSW	17	74,217,238 (GRCm39)	missense	probably damaging	0.96
R4897:Xdh	UTSW	17	74,207,703 (GRCm39)	missense	probably benign
R4923:Xdh	UTSW	17	74,231,931 (GRCm39)	missense	possibly damaging	0.72
R4977:Xdh	UTSW	17	74,205,965 (GRCm39)	missense	probably benign	0.05
R5030:Xdh	UTSW	17	74,198,288 (GRCm39)	missense	probably damaging	1.00
R5185:Xdh	UTSW	17	74,232,006 (GRCm39)	missense	probably damaging	1.00
R5347:Xdh	UTSW	17	74,232,027 (GRCm39)	missense	probably benign
R5556:Xdh	UTSW	17	74,204,759 (GRCm39)	missense	probably benign	0.21
R5566:Xdh	UTSW	17	74,200,617 (GRCm39)	missense	probably damaging	1.00
R5568:Xdh	UTSW	17	74,250,880 (GRCm39)	missense	possibly damaging	0.90
R5635:Xdh	UTSW	17	74,220,870 (GRCm39)	missense	possibly damaging	0.92
R5662:Xdh	UTSW	17	74,248,110 (GRCm39)	missense	probably damaging	0.99
R5955:Xdh	UTSW	17	74,205,315 (GRCm39)	missense	probably damaging	1.00
R6058:Xdh	UTSW	17	74,213,264 (GRCm39)	missense	probably damaging	1.00
R6061:Xdh	UTSW	17	74,228,342 (GRCm39)	missense	probably damaging	1.00
R6412:Xdh	UTSW	17	74,242,902 (GRCm39)	missense	probably benign	0.09
R6526:Xdh	UTSW	17	74,207,546 (GRCm39)	missense	probably damaging	0.97
R6558:Xdh	UTSW	17	74,200,708 (GRCm39)	missense	possibly damaging	0.95
R6843:Xdh	UTSW	17	74,230,125 (GRCm39)	missense	probably damaging	1.00
R6932:Xdh	UTSW	17	74,229,557 (GRCm39)	missense	probably damaging	0.99
R7028:Xdh	UTSW	17	74,250,868 (GRCm39)	missense	probably damaging	0.99
R7418:Xdh	UTSW	17	74,220,960 (GRCm39)	missense	possibly damaging	0.81
R7503:Xdh	UTSW	17	74,233,205 (GRCm39)	missense	probably damaging	1.00
R7653:Xdh	UTSW	17	74,204,040 (GRCm39)	missense	probably benign	0.10
R7763:Xdh	UTSW	17	74,241,829 (GRCm39)	missense	possibly damaging	0.69
R7768:Xdh	UTSW	17	74,246,831 (GRCm39)	missense	probably benign
R7904:Xdh	UTSW	17	74,229,467 (GRCm39)	missense	probably benign	0.09
R8010:Xdh	UTSW	17	74,216,312 (GRCm39)	nonsense	probably null
R8067:Xdh	UTSW	17	74,207,652 (GRCm39)	missense	probably benign	0.01
R8238:Xdh	UTSW	17	74,193,412 (GRCm39)	missense	probably benign
R8253:Xdh	UTSW	17	74,225,377 (GRCm39)	missense	possibly damaging	0.94
R8346:Xdh	UTSW	17	74,220,938 (GRCm39)	missense	probably damaging	1.00
R8350:Xdh	UTSW	17	74,241,837 (GRCm39)	missense	probably damaging	1.00
R8381:Xdh	UTSW	17	74,219,456 (GRCm39)	missense	probably benign
R8427:Xdh	UTSW	17	74,242,926 (GRCm39)	missense	probably damaging	1.00
R8465:Xdh	UTSW	17	74,206,007 (GRCm39)	nonsense	probably null
R8478:Xdh	UTSW	17	74,213,053 (GRCm39)	missense	probably benign	0.00
R8680:Xdh	UTSW	17	74,229,500 (GRCm39)	missense	probably benign
R8802:Xdh	UTSW	17	74,225,405 (GRCm39)	missense	probably benign	0.00
R8984:Xdh	UTSW	17	74,228,346 (GRCm39)	missense	probably damaging	1.00
R8985:Xdh	UTSW	17	74,228,346 (GRCm39)	missense	probably damaging	1.00
R8995:Xdh	UTSW	17	74,205,369 (GRCm39)	missense	probably damaging	1.00
R9035:Xdh	UTSW	17	74,217,222 (GRCm39)	missense	probably benign
R9149:Xdh	UTSW	17	74,222,688 (GRCm39)	missense	probably benign
R9181:Xdh	UTSW	17	74,232,006 (GRCm39)	missense	probably damaging	1.00
R9357:Xdh	UTSW	17	74,233,541 (GRCm39)	critical splice donor site	probably null
R9357:Xdh	UTSW	17	74,214,711 (GRCm39)	missense	probably damaging	0.97
R9609:Xdh	UTSW	17	74,231,990 (GRCm39)	missense	possibly damaging	0.91
R9803:Xdh	UTSW	17	74,229,455 (GRCm39)	missense	probably benign
X0019:Xdh	UTSW	17	74,225,449 (GRCm39)	missense	probably damaging	1.00
Z1088:Xdh	UTSW	17	74,193,423 (GRCm39)	missense	probably benign
Z1176:Xdh	UTSW	17	74,230,037 (GRCm39)	critical splice donor site	probably null
Z1177:Xdh	UTSW	17	74,204,690 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCCAGGATGCTGGTAATG -3'
(R):5'- ACACTGTTTAATTTTCGCTTGGGTC -3'

Sequencing Primer
(F):5'- ATGCTGGTAATGGACATACCCTG -3'
(R):5'- CAAATGTTGTGGTTGGCC -3'

Posted On

2015-08-18