Mutagenetix > Incidental Mutation

Incidental Mutation 'R2157:Xdh'

234952

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

040160-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R2157 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73922537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 307 (L307P)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably damaging
Transcript: ENSMUST00000024866
AA Change: L307P

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

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: L307P

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

0.9610

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 124,651,429		probably benign	Het
4930590J08Rik	A	G	6: 91,917,698		probably null	Het
4930590J08Rik	T	A	6: 91,942,487	M709K	possibly damaging	Het
A930011G23Rik	T	G	5: 99,232,097	I394L	probably damaging	Het
Abca13	A	C	11: 9,577,170	M4528L	probably damaging	Het
Abcb1b	G	A	5: 8,824,791	A484T	probably benign	Het
Actn1	A	T	12: 80,173,117	M660K	probably benign	Het
Adgra3	G	T	5: 50,001,941	N322K	possibly damaging	Het
Ahnak	A	G	19: 9,000,684	I56V	possibly damaging	Het
Amotl2	A	G	9: 102,730,589		probably benign	Het
Apoa1	T	C	9: 46,229,173	V34A	probably damaging	Het
Arrdc1	G	A	2: 24,926,975	A113V	probably damaging	Het
As3mt	A	G	19: 46,707,792	D13G	probably benign	Het
C77080	C	T	4: 129,224,124	R249H	possibly damaging	Het
Cald1	A	G	6: 34,686,041	Q13R	possibly damaging	Het
Ccdc28a	G	A	10: 18,230,455	T41I	probably benign	Het
Ccdc30	A	T	4: 119,333,724		probably benign	Het
Cct2	T	C	10: 117,062,809		probably benign	Het
Cdh12	T	C	15: 21,583,787	I571T	possibly damaging	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Ckm	T	C	7: 19,421,354	S372P	probably benign	Het
Comp	C	T	8: 70,379,570	Q554*	probably null	Het
Csf2ra	T	C	19: 61,227,071	T70A	probably benign	Het
Csmd3	T	C	15: 47,695,787	E2256G	probably damaging	Het
Dicer1	A	T	12: 104,702,949	V1158D	probably benign	Het
Dner	A	G	1: 84,383,938	F650S	possibly damaging	Het
Dnm3	T	C	1: 162,307,893	N437S	possibly damaging	Het
Dpy19l2	A	T	9: 24,584,632	C597S	probably benign	Het
Dpy19l2	T	C	9: 24,680,780	I176V	probably benign	Het
Edf1	T	C	2: 25,558,031		probably null	Het
Enpp3	A	G	10: 24,776,878	F727S	probably damaging	Het
Epb42	C	T	2: 121,021,762	M583I	probably benign	Het
Foxred1	A	G	9: 35,205,363	F117S	probably damaging	Het
Fstl5	T	A	3: 76,708,065	M811K	possibly damaging	Het
Gm5117	A	T	8: 31,738,194		noncoding transcript	Het
Gm6803	A	T	12: 88,018,711	S21T	unknown	Het
Gpm6a	T	C	8: 55,058,798	S236P	probably damaging	Het
Grik1	G	A	16: 88,056,124	A57V	probably damaging	Het
Hdgfl2	G	A	17: 56,098,691	V476I	possibly damaging	Het
Il17b	G	T	18: 61,690,368	W91L	probably damaging	Het
Jph4	C	A	14: 55,113,527	R344L	probably benign	Het
Map3k21	A	G	8: 125,937,266	D522G	probably benign	Het
Mast2	A	G	4: 116,322,283	L398S	probably damaging	Het
Mbtd1	A	G	11: 93,910,388	T132A	probably benign	Het
Mbtps1	G	T	8: 119,542,727	T208K	probably benign	Het
Mr1	A	G	1: 155,146,630		probably null	Het
Mthfsd	G	A	8: 121,101,501	L140F	probably damaging	Het
Mybpc2	C	G	7: 44,509,845	D594H	possibly damaging	Het
Nalcn	T	C	14: 123,409,752	M570V	probably benign	Het
Ncam2	T	C	16: 81,490,389	I397T	probably damaging	Het
Ndufs4	C	T	13: 114,316,978	V75I	probably damaging	Het
Nek4	T	A	14: 30,979,968		probably null	Het
Nfatc1	G	T	18: 80,635,845	A762D	possibly damaging	Het
Npc1	A	G	18: 12,191,809	I1209T	probably damaging	Het
Olfr1206	A	T	2: 88,864,869	N88I	probably benign	Het
Olfr370	T	C	8: 83,541,621	I159T	probably benign	Het
Pak7	T	C	2: 136,100,957	D421G	probably damaging	Het
Pias1	A	G	9: 62,912,830	V285A	possibly damaging	Het
Pigg	T	A	5: 108,318,889	I212N	probably damaging	Het
Plcd3	A	T	11: 103,071,148	C711S	probably benign	Het
Plscr5	G	A	9: 92,198,497	R12K	probably benign	Het
Plxna4	T	C	6: 32,516,974	I236V	probably benign	Het
Ppp1r26	T	C	2: 28,452,358	F667L	probably benign	Het
Pqlc2	A	T	4: 139,301,855	V106D	probably damaging	Het
Prkx	A	G	X: 77,771,314	F247L	probably benign	Het
Qpct	G	A	17: 79,070,686	R95Q	probably benign	Het
Ralgapb	G	T	2: 158,437,472	M159I	probably benign	Het
Rnf145	T	C	11: 44,555,170	L277P	probably damaging	Het
Scn9a	A	G	2: 66,536,325	S705P	probably damaging	Het
Slc4a8	A	G	15: 100,806,373	T750A	probably damaging	Het
Syne2	A	G	12: 76,094,456	E6114G	probably damaging	Het
Tat	T	C	8: 109,997,604	M375T	probably damaging	Het
Tex10	C	T	4: 48,436,522		probably benign	Het
Tmprss11e	T	C	5: 86,713,728	K320E	probably benign	Het
Tnr	T	C	1: 159,858,270	I357T	probably damaging	Het
Vmn1r229	A	T	17: 20,815,376	R294S	possibly damaging	Het
Vmn2r116	G	A	17: 23,401,469	D726N	probably damaging	Het
Vpreb2	T	A	16: 17,981,070	L140*	probably null	Het
Wfs1	G	A	5: 36,967,942	P535L	probably damaging	Het
Zfp160	A	G	17: 21,020,828	S53G	probably benign	Het
Zfp319	A	G	8: 95,328,031	C515R	probably damaging	Het
Zfp747	A	G	7: 127,375,757	F24L	possibly damaging	Het
Zzef1	A	T	11: 72,848,634		probably benign	Het

Other mutations in Xdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Xdh	APN	17	73923106	missense	possibly damaging	0.58
IGL00556:Xdh	APN	17	73884435	makesense	probably null
IGL01524:Xdh	APN	17	73923137	critical splice acceptor site	probably null
IGL01604:Xdh	APN	17	73909337	missense	probably benign	0.02
IGL01625:Xdh	APN	17	73916786	critical splice donor site	probably null
IGL01778:Xdh	APN	17	73900280	missense	probably benign	0.00
IGL01804:Xdh	APN	17	73892759	missense	probably damaging	1.00
IGL01825:Xdh	APN	17	73891245	missense	probably damaging	1.00
IGL01929:Xdh	APN	17	73934855	missense	probably damaging	1.00
IGL02068:Xdh	APN	17	73913950	missense	probably damaging	1.00
IGL02079:Xdh	APN	17	73891277	missense	probably damaging	1.00
IGL02210:Xdh	APN	17	73943895	missense	probably benign	0.00
IGL02261:Xdh	APN	17	73913965	missense	possibly damaging	0.81
IGL02365:Xdh	APN	17	73943890	missense	probably benign	0.14
IGL02424:Xdh	APN	17	73926570	missense	probably benign	0.00
IGL02491:Xdh	APN	17	73886464	missense	probably damaging	0.99
IGL02525:Xdh	APN	17	73924995	missense	possibly damaging	0.91
IGL02578:Xdh	APN	17	73906246	missense	probably damaging	1.00
IGL02793:Xdh	APN	17	73900581	missense	probably damaging	1.00
IGL02939:Xdh	APN	17	73943845	critical splice donor site	probably null
IGL03327:Xdh	APN	17	73916792	missense	probably benign
IGL03345:Xdh	APN	17	73906032	missense	probably damaging	0.98
IGL03353:Xdh	APN	17	73895786	missense	possibly damaging	0.65
inky	UTSW	17	73921351	missense	probably damaging	1.00
nucleus	UTSW	17	73899012	nonsense	probably null
squidgame	UTSW	17	73939836	missense	probably benign
R0018:Xdh	UTSW	17	73925025	missense	probably benign	0.00
R0018:Xdh	UTSW	17	73925025	missense	probably benign	0.00
R0033:Xdh	UTSW	17	73907632	missense	probably benign	0.06
R0079:Xdh	UTSW	17	73891218	missense	probably damaging	1.00
R0086:Xdh	UTSW	17	73884438	missense	probably benign
R0319:Xdh	UTSW	17	73906101	splice site	probably benign
R0336:Xdh	UTSW	17	73922463	missense	possibly damaging	0.91
R0389:Xdh	UTSW	17	73898362	missense	probably damaging	1.00
R0684:Xdh	UTSW	17	73943891	missense	probably damaging	0.97
R0930:Xdh	UTSW	17	73923082	missense	probably benign	0.00
R1073:Xdh	UTSW	17	73939836	missense	probably benign
R1114:Xdh	UTSW	17	73941149	splice site	probably benign
R1201:Xdh	UTSW	17	73918418	missense	probably benign	0.05
R1230:Xdh	UTSW	17	73891256	missense	probably damaging	1.00
R1351:Xdh	UTSW	17	73923078	missense	probably benign	0.02
R1470:Xdh	UTSW	17	73891112	missense	probably damaging	1.00
R1470:Xdh	UTSW	17	73891112	missense	probably damaging	1.00
R1485:Xdh	UTSW	17	73914019	nonsense	probably null
R1548:Xdh	UTSW	17	73913901	missense	probably damaging	0.98
R1637:Xdh	UTSW	17	73900578	missense	probably benign
R1641:Xdh	UTSW	17	73926552	missense	probably benign
R1758:Xdh	UTSW	17	73910209	missense	probably damaging	1.00
R1951:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R1969:Xdh	UTSW	17	73892751	missense	possibly damaging	0.55
R2024:Xdh	UTSW	17	73921305	missense	possibly damaging	0.92
R2080:Xdh	UTSW	17	73909325	missense	probably damaging	1.00
R2300:Xdh	UTSW	17	73891265	missense	probably damaging	1.00
R3783:Xdh	UTSW	17	73893595	splice site	probably benign
R3796:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R3797:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R3798:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R3799:Xdh	UTSW	17	73907658	missense	probably damaging	1.00
R3819:Xdh	UTSW	17	73906725	missense	probably benign	0.35
R4085:Xdh	UTSW	17	73916879	missense	probably benign	0.35
R4240:Xdh	UTSW	17	73895795	missense	possibly damaging	0.72
R4356:Xdh	UTSW	17	73915690	missense	probably benign	0.01
R4522:Xdh	UTSW	17	73898344	missense	probably damaging	1.00
R4523:Xdh	UTSW	17	73898344	missense	probably damaging	1.00
R4524:Xdh	UTSW	17	73898344	missense	probably damaging	1.00
R4600:Xdh	UTSW	17	73910200	missense	probably benign	0.19
R4617:Xdh	UTSW	17	73918394	missense	probably damaging	0.99
R4756:Xdh	UTSW	17	73886386	missense	probably benign	0.24
R4761:Xdh	UTSW	17	73910267	missense	possibly damaging	0.91
R4815:Xdh	UTSW	17	73906215	missense	probably damaging	1.00
R4850:Xdh	UTSW	17	73898335	missense	probably damaging	1.00
R4896:Xdh	UTSW	17	73910243	missense	probably damaging	0.96
R4897:Xdh	UTSW	17	73900708	missense	probably benign
R4923:Xdh	UTSW	17	73924936	missense	possibly damaging	0.72
R4977:Xdh	UTSW	17	73898970	missense	probably benign	0.05
R5030:Xdh	UTSW	17	73891293	missense	probably damaging	1.00
R5185:Xdh	UTSW	17	73925011	missense	probably damaging	1.00
R5347:Xdh	UTSW	17	73925032	missense	probably benign
R5556:Xdh	UTSW	17	73897764	missense	probably benign	0.21
R5566:Xdh	UTSW	17	73893622	missense	probably damaging	1.00
R5568:Xdh	UTSW	17	73943885	missense	possibly damaging	0.90
R5635:Xdh	UTSW	17	73913875	missense	possibly damaging	0.92
R5662:Xdh	UTSW	17	73941115	missense	probably damaging	0.99
R5955:Xdh	UTSW	17	73898320	missense	probably damaging	1.00
R6058:Xdh	UTSW	17	73906269	missense	probably damaging	1.00
R6061:Xdh	UTSW	17	73921347	missense	probably damaging	1.00
R6412:Xdh	UTSW	17	73935907	missense	probably benign	0.09
R6526:Xdh	UTSW	17	73900551	missense	probably damaging	0.97
R6558:Xdh	UTSW	17	73893713	missense	possibly damaging	0.95
R6843:Xdh	UTSW	17	73923130	missense	probably damaging	1.00
R6932:Xdh	UTSW	17	73922562	missense	probably damaging	0.99
R7028:Xdh	UTSW	17	73943873	missense	probably damaging	0.99
R7418:Xdh	UTSW	17	73913965	missense	possibly damaging	0.81
R7503:Xdh	UTSW	17	73926210	missense	probably damaging	1.00
R7653:Xdh	UTSW	17	73897045	missense	probably benign	0.10
R7763:Xdh	UTSW	17	73934834	missense	possibly damaging	0.69
R7768:Xdh	UTSW	17	73939836	missense	probably benign
R7904:Xdh	UTSW	17	73922472	missense	probably benign	0.09
R8010:Xdh	UTSW	17	73909317	nonsense	probably null
R8067:Xdh	UTSW	17	73900657	missense	probably benign	0.01
R8238:Xdh	UTSW	17	73886417	missense	probably benign
R8253:Xdh	UTSW	17	73918382	missense	possibly damaging	0.94
R8346:Xdh	UTSW	17	73913943	missense	probably damaging	1.00
R8350:Xdh	UTSW	17	73934842	missense	probably damaging	1.00
R8381:Xdh	UTSW	17	73912461	missense	probably benign
R8427:Xdh	UTSW	17	73935931	missense	probably damaging	1.00
R8465:Xdh	UTSW	17	73899012	nonsense	probably null
R8478:Xdh	UTSW	17	73906058	missense	probably benign	0.00
R8680:Xdh	UTSW	17	73922505	missense	probably benign
R8802:Xdh	UTSW	17	73918410	missense	probably benign	0.00
R8984:Xdh	UTSW	17	73921351	missense	probably damaging	1.00
R8985:Xdh	UTSW	17	73921351	missense	probably damaging	1.00
R8995:Xdh	UTSW	17	73898374	missense	probably damaging	1.00
R9035:Xdh	UTSW	17	73910227	missense	probably benign
R9149:Xdh	UTSW	17	73915693	missense	probably benign
R9181:Xdh	UTSW	17	73925011	missense	probably damaging	1.00
R9357:Xdh	UTSW	17	73907716	missense	probably damaging	0.97
R9357:Xdh	UTSW	17	73926546	critical splice donor site	probably null
R9609:Xdh	UTSW	17	73924995	missense	possibly damaging	0.91
R9803:Xdh	UTSW	17	73922460	missense	probably benign
X0019:Xdh	UTSW	17	73918454	missense	probably damaging	1.00
Z1088:Xdh	UTSW	17	73886428	missense	probably benign
Z1176:Xdh	UTSW	17	73923042	critical splice donor site	probably null
Z1177:Xdh	UTSW	17	73897695	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCATCTTCATGAAACTTCCC -3'
(R):5'- GGTATAGACATCGTCCCAGCTC -3'

Sequencing Primer
(F):5'- GACTTATCACGAACCTGGGTTTGC -3'
(R):5'- ATCGTCCCAGCTCATGTCGAG -3'

Posted On

2014-10-01