Mutagenetix > Incidental Mutation

Incidental Mutation 'R7768:Xdh'

598425

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

045824-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.483) question?

Stock #

R7768 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73939836 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 78 (T78A)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably benign
Transcript: ENSMUST00000024866
AA Change: T78A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: T78A

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

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn2	A	G	13: 12,282,594 (GRCm38)	V479A	possibly damaging	Het
Acy1	G	A	9: 106,433,618 (GRCm38)	T317M	possibly damaging	Het
Adgrg6	A	T	10: 14,431,666 (GRCm38)	D797E	probably benign	Het
Ank1	C	T	8: 23,097,997 (GRCm38)	A552V	probably benign	Het
Ankrd13c	A	G	3: 157,988,647 (GRCm38)	T262A	probably benign	Het
Ap4e1	A	T	2: 127,046,934 (GRCm38)	N468Y	probably damaging	Het
Apbb1	T	C	7: 105,567,088 (GRCm38)	I367V	probably benign	Het
Arl6	A	G	16: 59,632,336 (GRCm38)	I33T	probably damaging	Het
Asgr2	T	C	11: 70,105,416 (GRCm38)	I228T	probably damaging	Het
Aspn	A	G	13: 49,557,395 (GRCm38)	H172R	probably damaging	Het
Bclaf1	T	A	10: 20,339,771 (GRCm38)	F868L	probably benign	Het
Cacna1i	G	A	15: 80,381,188 (GRCm38)	R1547H	probably damaging	Het
Celsr1	G	T	15: 85,932,409 (GRCm38)	Q1778K	probably benign	Het
Cep250	T	C	2: 155,986,009 (GRCm38)	L42S		Het
Clnk	C	A	5: 38,768,158 (GRCm38)	R100L	probably damaging	Het
Cpvl	A	G	6: 53,896,491 (GRCm38)	V420A	possibly damaging	Het
Dicer1	C	A	12: 104,706,697 (GRCm38)	G825V	probably damaging	Het
Dmxl2	T	C	9: 54,380,939 (GRCm38)	Y2628C	probably damaging	Het
Dnah7b	T	A	1: 46,137,474 (GRCm38)	H751Q	probably benign	Het
Dnhd1	C	A	7: 105,721,095 (GRCm38)	R4576S	possibly damaging	Het
Dzip1	A	T	14: 118,879,498 (GRCm38)	D775E	probably benign	Het
Erich3	T	A	3: 154,748,331 (GRCm38)	M381K	probably benign	Het
Fam193a	A	G	5: 34,465,791 (GRCm38)	D1241G	possibly damaging	Het
Gbx2	A	G	1: 89,928,984 (GRCm38)	L228P	probably benign	Het
Ggt7	A	T	2: 155,506,501 (GRCm38)	M77K	possibly damaging	Het
Gpr26	T	A	7: 131,974,348 (GRCm38)	I247K	probably damaging	Het
Grip1	A	G	10: 120,038,397 (GRCm38)	T745A	probably damaging	Het
Gusb	A	T	5: 130,000,405 (GRCm38)	H178Q	probably benign	Het
Hacl1	T	C	14: 31,616,480 (GRCm38)	Y380C	probably damaging	Het
Hdac9	T	C	12: 34,390,240 (GRCm38)	H380R	possibly damaging	Het
Icam4	T	A	9: 21,029,994 (GRCm38)	L143Q	probably damaging	Het
Ikbkb	T	A	8: 22,695,236 (GRCm38)	I43F	probably damaging	Het
Ints11	G	T	4: 155,886,939 (GRCm38)	K303N	probably damaging	Het
Itpa	A	T	2: 130,667,916 (GRCm38)	N16I	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,411,205 (GRCm38)		probably null	Het
Kat6a	T	A	8: 22,903,212 (GRCm38)	N235K	probably damaging	Het
Kmt2a	C	T	9: 44,820,603 (GRCm38)	V2806I	unknown	Het
Loxhd1	T	A	18: 77,384,941 (GRCm38)	F1051L	probably damaging	Het
Map2	A	G	1: 66,414,483 (GRCm38)	E844G	possibly damaging	Het
Mmp7	T	A	9: 7,697,748 (GRCm38)	Y261*	probably null	Het
Muc4	A	C	16: 32,756,194 (GRCm38)	M2023L	unknown	Het
Mybpc1	C	A	10: 88,542,372 (GRCm38)	G688V	probably damaging	Het
Myo3a	A	G	2: 22,241,143 (GRCm38)	T34A	probably damaging	Het
Nrxn2	A	G	19: 6,481,379 (GRCm38)	T683A	possibly damaging	Het
Nup160	A	G	2: 90,700,116 (GRCm38)	I444V	probably damaging	Het
Olfr329-ps	A	T	11: 58,542,640 (GRCm38)	S292T	probably damaging	Het
Olfr329-ps	A	T	11: 58,542,867 (GRCm38)	M216K	possibly damaging	Het
Or4f4-ps1	A	C	2: 111,499,853 (GRCm38)	K200N	possibly damaging	Het
Or8w1	T	C	2: 87,635,313 (GRCm38)	M145V	probably benign	Het
Pcdha1	A	G	18: 36,932,167 (GRCm38)	E628G	probably damaging	Het
Pcdha12	T	C	18: 37,022,351 (GRCm38)	S708P	probably damaging	Het
Pira2	A	T	7: 3,841,697 (GRCm38)	F445Y	probably benign	Het
Pkd1l2	A	G	8: 117,054,860 (GRCm38)		probably null	Het
Pla2g6	T	C	15: 79,297,314 (GRCm38)	D577G	probably damaging	Het
Pla2r1	G	T	2: 60,448,946 (GRCm38)	D763E	probably benign	Het
Pramel18	A	C	4: 101,911,813 (GRCm38)	I454L	probably benign	Het
Psg18	A	T	7: 18,346,028 (GRCm38)	I416N	probably damaging	Het
Rapgef6	G	T	11: 54,626,588 (GRCm38)	V369F	probably damaging	Het
Rasal3	T	C	17: 32,396,793 (GRCm38)	E357G	probably damaging	Het
Rhbdl3	G	A	11: 80,330,621 (GRCm38)	R195Q	probably benign	Het
Rnf216	A	T	5: 143,098,444 (GRCm38)	M1K	probably null	Het
Rspry1	C	A	8: 94,629,841 (GRCm38)	D165E	probably damaging	Het
Rwdd2b	G	A	16: 87,436,745 (GRCm38)	L156F	probably benign	Het
Scn11a	T	A	9: 119,815,272 (GRCm38)	I141F	probably benign	Het
Sirt2	A	T	7: 28,782,859 (GRCm38)	T198S	probably benign	Het
Slc2a1	A	G	4: 119,132,447 (GRCm38)	N94D	probably damaging	Het
Slc33a1	A	G	3: 63,947,618 (GRCm38)	F407S	possibly damaging	Het
Slc38a4	A	C	15: 97,008,664 (GRCm38)	L356R	probably damaging	Het
Slc43a1	T	A	2: 84,856,871 (GRCm38)	L372Q	probably damaging	Het
Slc6a6	T	A	6: 91,739,965 (GRCm38)	I274N	probably damaging	Het
Smchd1	C	T	17: 71,411,911 (GRCm38)	G821D	probably damaging	Het
Spata33	T	C	8: 123,214,407 (GRCm38)	F65S	unknown	Het
Spmip5	A	T	19: 58,792,742 (GRCm38)	Y25N	probably damaging	Het
Stx19	A	G	16: 62,822,204 (GRCm38)	T128A	probably benign	Het
Tas2r103	T	C	6: 133,036,849 (GRCm38)	M85V	probably benign	Het
Tas2r117	C	T	6: 132,803,522 (GRCm38)	L208F	probably damaging	Het
Tcirg1	A	T	19: 3,902,900 (GRCm38)	I233N	possibly damaging	Het
Uba6	C	A	5: 86,152,920 (GRCm38)	W192L	probably benign	Het
Ube3a	T	C	7: 59,288,777 (GRCm38)	I761T	probably damaging	Het
Unc80	T	C	1: 66,510,595 (GRCm38)	S671P	possibly damaging	Het
Usp8	A	G	2: 126,751,123 (GRCm38)	Q766R	probably damaging	Het
Vmn2r103	A	G	17: 19,812,052 (GRCm38)	N696S	probably damaging	Het
Vmn2r14	G	A	5: 109,220,220 (GRCm38)	T302I	probably benign	Het
Vmn2r50	G	A	7: 10,037,371 (GRCm38)	A801V	probably damaging	Het
Vmn2r85	T	G	10: 130,418,693 (GRCm38)	Q707H	probably damaging	Het
Wsb2	G	A	5: 117,363,722 (GRCm38)	V51M	probably benign	Het
Zfp442	T	C	2: 150,408,321 (GRCm38)	K554E	possibly damaging	Het

Other mutations in Xdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Xdh	APN	17	73,923,106 (GRCm38)	missense	possibly damaging	0.58
IGL00556:Xdh	APN	17	73,884,435 (GRCm38)	makesense	probably null
IGL01524:Xdh	APN	17	73,923,137 (GRCm38)	critical splice acceptor site	probably null
IGL01604:Xdh	APN	17	73,909,337 (GRCm38)	missense	probably benign	0.02
IGL01625:Xdh	APN	17	73,916,786 (GRCm38)	critical splice donor site	probably null
IGL01778:Xdh	APN	17	73,900,280 (GRCm38)	missense	probably benign	0.00
IGL01804:Xdh	APN	17	73,892,759 (GRCm38)	missense	probably damaging	1.00
IGL01825:Xdh	APN	17	73,891,245 (GRCm38)	missense	probably damaging	1.00
IGL01929:Xdh	APN	17	73,934,855 (GRCm38)	missense	probably damaging	1.00
IGL02068:Xdh	APN	17	73,913,950 (GRCm38)	missense	probably damaging	1.00
IGL02079:Xdh	APN	17	73,891,277 (GRCm38)	missense	probably damaging	1.00
IGL02210:Xdh	APN	17	73,943,895 (GRCm38)	missense	probably benign	0.00
IGL02261:Xdh	APN	17	73,913,965 (GRCm38)	missense	possibly damaging	0.81
IGL02365:Xdh	APN	17	73,943,890 (GRCm38)	missense	probably benign	0.14
IGL02424:Xdh	APN	17	73,926,570 (GRCm38)	missense	probably benign	0.00
IGL02491:Xdh	APN	17	73,886,464 (GRCm38)	missense	probably damaging	0.99
IGL02525:Xdh	APN	17	73,924,995 (GRCm38)	missense	possibly damaging	0.91
IGL02578:Xdh	APN	17	73,906,246 (GRCm38)	missense	probably damaging	1.00
IGL02793:Xdh	APN	17	73,900,581 (GRCm38)	missense	probably damaging	1.00
IGL02939:Xdh	APN	17	73,943,845 (GRCm38)	critical splice donor site	probably null
IGL03327:Xdh	APN	17	73,916,792 (GRCm38)	missense	probably benign
IGL03345:Xdh	APN	17	73,906,032 (GRCm38)	missense	probably damaging	0.98
IGL03353:Xdh	APN	17	73,895,786 (GRCm38)	missense	possibly damaging	0.65
inky	UTSW	17	73,921,351 (GRCm38)	missense	probably damaging	1.00
nucleus	UTSW	17	73,899,012 (GRCm38)	nonsense	probably null
squidgame	UTSW	17	73,939,836 (GRCm38)	missense	probably benign
R0018:Xdh	UTSW	17	73,925,025 (GRCm38)	missense	probably benign	0.00
R0018:Xdh	UTSW	17	73,925,025 (GRCm38)	missense	probably benign	0.00
R0033:Xdh	UTSW	17	73,907,632 (GRCm38)	missense	probably benign	0.06
R0079:Xdh	UTSW	17	73,891,218 (GRCm38)	missense	probably damaging	1.00
R0086:Xdh	UTSW	17	73,884,438 (GRCm38)	missense	probably benign
R0319:Xdh	UTSW	17	73,906,101 (GRCm38)	splice site	probably benign
R0336:Xdh	UTSW	17	73,922,463 (GRCm38)	missense	possibly damaging	0.91
R0389:Xdh	UTSW	17	73,898,362 (GRCm38)	missense	probably damaging	1.00
R0684:Xdh	UTSW	17	73,943,891 (GRCm38)	missense	probably damaging	0.97
R0930:Xdh	UTSW	17	73,923,082 (GRCm38)	missense	probably benign	0.00
R1073:Xdh	UTSW	17	73,939,836 (GRCm38)	missense	probably benign
R1114:Xdh	UTSW	17	73,941,149 (GRCm38)	splice site	probably benign
R1201:Xdh	UTSW	17	73,918,418 (GRCm38)	missense	probably benign	0.05
R1230:Xdh	UTSW	17	73,891,256 (GRCm38)	missense	probably damaging	1.00
R1351:Xdh	UTSW	17	73,923,078 (GRCm38)	missense	probably benign	0.02
R1470:Xdh	UTSW	17	73,891,112 (GRCm38)	missense	probably damaging	1.00
R1470:Xdh	UTSW	17	73,891,112 (GRCm38)	missense	probably damaging	1.00
R1485:Xdh	UTSW	17	73,914,019 (GRCm38)	nonsense	probably null
R1548:Xdh	UTSW	17	73,913,901 (GRCm38)	missense	probably damaging	0.98
R1637:Xdh	UTSW	17	73,900,578 (GRCm38)	missense	probably benign
R1641:Xdh	UTSW	17	73,926,552 (GRCm38)	missense	probably benign
R1758:Xdh	UTSW	17	73,910,209 (GRCm38)	missense	probably damaging	1.00
R1951:Xdh	UTSW	17	73,907,658 (GRCm38)	missense	probably damaging	1.00
R1969:Xdh	UTSW	17	73,892,751 (GRCm38)	missense	possibly damaging	0.55
R2024:Xdh	UTSW	17	73,921,305 (GRCm38)	missense	possibly damaging	0.92
R2080:Xdh	UTSW	17	73,909,325 (GRCm38)	missense	probably damaging	1.00
R2157:Xdh	UTSW	17	73,922,537 (GRCm38)	missense	probably damaging	1.00
R2300:Xdh	UTSW	17	73,891,265 (GRCm38)	missense	probably damaging	1.00
R3783:Xdh	UTSW	17	73,893,595 (GRCm38)	splice site	probably benign
R3796:Xdh	UTSW	17	73,907,658 (GRCm38)	missense	probably damaging	1.00
R3797:Xdh	UTSW	17	73,907,658 (GRCm38)	missense	probably damaging	1.00
R3798:Xdh	UTSW	17	73,907,658 (GRCm38)	missense	probably damaging	1.00
R3799:Xdh	UTSW	17	73,907,658 (GRCm38)	missense	probably damaging	1.00
R3819:Xdh	UTSW	17	73,906,725 (GRCm38)	missense	probably benign	0.35
R4085:Xdh	UTSW	17	73,916,879 (GRCm38)	missense	probably benign	0.35
R4240:Xdh	UTSW	17	73,895,795 (GRCm38)	missense	possibly damaging	0.72
R4356:Xdh	UTSW	17	73,915,690 (GRCm38)	missense	probably benign	0.01
R4522:Xdh	UTSW	17	73,898,344 (GRCm38)	missense	probably damaging	1.00
R4523:Xdh	UTSW	17	73,898,344 (GRCm38)	missense	probably damaging	1.00
R4524:Xdh	UTSW	17	73,898,344 (GRCm38)	missense	probably damaging	1.00
R4600:Xdh	UTSW	17	73,910,200 (GRCm38)	missense	probably benign	0.19
R4617:Xdh	UTSW	17	73,918,394 (GRCm38)	missense	probably damaging	0.99
R4756:Xdh	UTSW	17	73,886,386 (GRCm38)	missense	probably benign	0.24
R4761:Xdh	UTSW	17	73,910,267 (GRCm38)	missense	possibly damaging	0.91
R4815:Xdh	UTSW	17	73,906,215 (GRCm38)	missense	probably damaging	1.00
R4850:Xdh	UTSW	17	73,898,335 (GRCm38)	missense	probably damaging	1.00
R4896:Xdh	UTSW	17	73,910,243 (GRCm38)	missense	probably damaging	0.96
R4897:Xdh	UTSW	17	73,900,708 (GRCm38)	missense	probably benign
R4923:Xdh	UTSW	17	73,924,936 (GRCm38)	missense	possibly damaging	0.72
R4977:Xdh	UTSW	17	73,898,970 (GRCm38)	missense	probably benign	0.05
R5030:Xdh	UTSW	17	73,891,293 (GRCm38)	missense	probably damaging	1.00
R5185:Xdh	UTSW	17	73,925,011 (GRCm38)	missense	probably damaging	1.00
R5347:Xdh	UTSW	17	73,925,032 (GRCm38)	missense	probably benign
R5556:Xdh	UTSW	17	73,897,764 (GRCm38)	missense	probably benign	0.21
R5566:Xdh	UTSW	17	73,893,622 (GRCm38)	missense	probably damaging	1.00
R5568:Xdh	UTSW	17	73,943,885 (GRCm38)	missense	possibly damaging	0.90
R5635:Xdh	UTSW	17	73,913,875 (GRCm38)	missense	possibly damaging	0.92
R5662:Xdh	UTSW	17	73,941,115 (GRCm38)	missense	probably damaging	0.99
R5955:Xdh	UTSW	17	73,898,320 (GRCm38)	missense	probably damaging	1.00
R6058:Xdh	UTSW	17	73,906,269 (GRCm38)	missense	probably damaging	1.00
R6061:Xdh	UTSW	17	73,921,347 (GRCm38)	missense	probably damaging	1.00
R6412:Xdh	UTSW	17	73,935,907 (GRCm38)	missense	probably benign	0.09
R6526:Xdh	UTSW	17	73,900,551 (GRCm38)	missense	probably damaging	0.97
R6558:Xdh	UTSW	17	73,893,713 (GRCm38)	missense	possibly damaging	0.95
R6843:Xdh	UTSW	17	73,923,130 (GRCm38)	missense	probably damaging	1.00
R6932:Xdh	UTSW	17	73,922,562 (GRCm38)	missense	probably damaging	0.99
R7028:Xdh	UTSW	17	73,943,873 (GRCm38)	missense	probably damaging	0.99
R7418:Xdh	UTSW	17	73,913,965 (GRCm38)	missense	possibly damaging	0.81
R7503:Xdh	UTSW	17	73,926,210 (GRCm38)	missense	probably damaging	1.00
R7653:Xdh	UTSW	17	73,897,045 (GRCm38)	missense	probably benign	0.10
R7763:Xdh	UTSW	17	73,934,834 (GRCm38)	missense	possibly damaging	0.69
R7904:Xdh	UTSW	17	73,922,472 (GRCm38)	missense	probably benign	0.09
R8010:Xdh	UTSW	17	73,909,317 (GRCm38)	nonsense	probably null
R8067:Xdh	UTSW	17	73,900,657 (GRCm38)	missense	probably benign	0.01
R8238:Xdh	UTSW	17	73,886,417 (GRCm38)	missense	probably benign
R8253:Xdh	UTSW	17	73,918,382 (GRCm38)	missense	possibly damaging	0.94
R8346:Xdh	UTSW	17	73,913,943 (GRCm38)	missense	probably damaging	1.00
R8350:Xdh	UTSW	17	73,934,842 (GRCm38)	missense	probably damaging	1.00
R8381:Xdh	UTSW	17	73,912,461 (GRCm38)	missense	probably benign
R8427:Xdh	UTSW	17	73,935,931 (GRCm38)	missense	probably damaging	1.00
R8465:Xdh	UTSW	17	73,899,012 (GRCm38)	nonsense	probably null
R8478:Xdh	UTSW	17	73,906,058 (GRCm38)	missense	probably benign	0.00
R8680:Xdh	UTSW	17	73,922,505 (GRCm38)	missense	probably benign
R8802:Xdh	UTSW	17	73,918,410 (GRCm38)	missense	probably benign	0.00
R8984:Xdh	UTSW	17	73,921,351 (GRCm38)	missense	probably damaging	1.00
R8985:Xdh	UTSW	17	73,921,351 (GRCm38)	missense	probably damaging	1.00
R8995:Xdh	UTSW	17	73,898,374 (GRCm38)	missense	probably damaging	1.00
R9035:Xdh	UTSW	17	73,910,227 (GRCm38)	missense	probably benign
R9149:Xdh	UTSW	17	73,915,693 (GRCm38)	missense	probably benign
R9181:Xdh	UTSW	17	73,925,011 (GRCm38)	missense	probably damaging	1.00
R9357:Xdh	UTSW	17	73,926,546 (GRCm38)	critical splice donor site	probably null
R9357:Xdh	UTSW	17	73,907,716 (GRCm38)	missense	probably damaging	0.97
R9609:Xdh	UTSW	17	73,924,995 (GRCm38)	missense	possibly damaging	0.91
R9803:Xdh	UTSW	17	73,922,460 (GRCm38)	missense	probably benign
X0019:Xdh	UTSW	17	73,918,454 (GRCm38)	missense	probably damaging	1.00
Z1088:Xdh	UTSW	17	73,886,428 (GRCm38)	missense	probably benign
Z1176:Xdh	UTSW	17	73,923,042 (GRCm38)	critical splice donor site	probably null
Z1177:Xdh	UTSW	17	73,897,695 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAACAACTTCTTTTCCTTGGGC -3'
(R):5'- TCGCAGTTGGAATAGAACCCC -3'

Sequencing Primer
(F):5'- GGGCTGTGAAGTTTCTCCTAACAAAG -3'
(R):5'- CCTGGCTCAGAGTTTTATATGGAGAG -3'

Posted On

2019-11-26