Mutagenetix > Incidental Mutation

Incidental Mutation 'R4896:Xdh'

377695

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

042500-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R4896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73910243 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 677 (T677A)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably damaging
Transcript: ENSMUST00000024866
AA Change: T677A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: T677A

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

0.6924

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

99% (101/102)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,221,937	S1898P	probably benign	Het
4932438A13Rik	T	G	3: 36,965,937	N2108K	probably damaging	Het
Abcb4	T	C	5: 8,907,267	V132A	possibly damaging	Het
Acpp	A	T	9: 104,306,975	V292E	probably damaging	Het
Adamts10	T	C	17: 33,528,896	V102A	possibly damaging	Het
Add2	A	G	6: 86,096,746	T206A	probably benign	Het
Alg12	A	T	15: 88,816,188	L15Q	probably damaging	Het
Ankrd27	T	A	7: 35,608,375	D346E	probably damaging	Het
Armc2	A	T	10: 41,923,794	N689K	probably damaging	Het
Best3	T	A	10: 117,024,555	D573E	probably benign	Het
Ccdc80	A	T	16: 45,095,898	Q339L	probably benign	Het
Cdh9	T	C	15: 16,778,156	V19A	probably benign	Het
Cnksr1	A	T	4: 134,229,675		probably null	Het
Col7a1	T	A	9: 108,957,277	V525E	unknown	Het
Crebrf	T	C	17: 26,742,420	S172P	possibly damaging	Het
Csmd1	T	C	8: 16,009,439	I2099V	probably benign	Het
Dcaf4	T	A	12: 83,539,459	M400K	possibly damaging	Het
Dnah11	A	T	12: 117,995,200	F2983I	probably damaging	Het
Dock6	A	G	9: 21,824,437	V1005A	possibly damaging	Het
Dyrk2	C	A	10: 118,868,248	G34C	probably damaging	Het
Eif4a1	A	T	11: 69,668,597		probably benign	Het
Eno4	G	T	19: 58,964,543	D330Y	probably damaging	Het
Faf1	G	A	4: 109,842,299	C347Y	probably benign	Het
Fam169a	A	G	13: 97,097,592	Y124C	probably damaging	Het
Fam227a	G	T	15: 79,637,054	F269L	probably benign	Het
Fam60a	A	G	6: 148,933,000		probably null	Het
Fancm	C	A	12: 65,075,831	D42E	probably damaging	Het
Fat1	T	A	8: 44,951,280	I356N	possibly damaging	Het
Fer1l6	A	T	15: 58,638,020	T1444S	probably damaging	Het
Galr1	A	G	18: 82,393,940	L267P	probably damaging	Het
Gbx1	T	C	5: 24,504,839	H336R	probably damaging	Het
Gimap8	A	T	6: 48,659,347	Q682L	possibly damaging	Het
Gm2396	T	G	9: 88,931,228		noncoding transcript	Het
Gm5798	T	C	14: 41,348,657	L8S	probably damaging	Het
Hmgcll1	C	T	9: 76,056,178	S39F	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Il3ra	A	T	14: 14,355,381	E289D	probably benign	Het
Isoc1	T	A	18: 58,673,278	L220Q	probably damaging	Het
Itga2	T	A	13: 114,853,766	K918*	probably null	Het
Kat6a	C	T	8: 22,938,313	T1228I	probably benign	Het
Klhl30	T	A	1: 91,359,324		probably null	Het
Krtap6-2	A	T	16: 89,419,918	C54S	unknown	Het
Lmf2	G	A	15: 89,351,800	P634S	probably benign	Het
Map3k4	A	G	17: 12,272,019	V175A	possibly damaging	Het
Mcm3	A	C	1: 20,820,256		probably benign	Het
Mon1b	T	C	8: 113,639,227	S396P	probably damaging	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Ncor2	A	G	5: 125,049,340		probably null	Het
Nlrc5	T	G	8: 94,521,216		probably benign	Het
Nlrp14	GT	GTT	7: 107,197,179		probably null	Het
Nwd2	T	G	5: 63,804,808	S578R	probably damaging	Het
Odf3	G	A	7: 140,848,485		probably benign	Het
Olfr1289	G	A	2: 111,483,660	V105I	possibly damaging	Het
Olfr360	A	G	2: 37,068,410	Y35C	probably damaging	Het
Otoa	C	A	7: 121,102,679	P194T	probably damaging	Het
Pde1b	A	C	15: 103,521,374	D98A	probably damaging	Het
Pi4ka	A	T	16: 17,377,169	C122S	probably damaging	Het
Pole2	C	T	12: 69,223,150	V67M	probably damaging	Het
Prickle2	A	T	6: 92,416,755	D312E	probably benign	Het
Prkd1	T	C	12: 50,389,962	D453G	probably damaging	Het
Prrc1	T	A	18: 57,374,554	V260E	probably damaging	Het
Reg3g	A	T	6: 78,467,810	Y62N	probably benign	Het
Reln	C	T	5: 21,955,238	G2111E	probably damaging	Het
Rsph6a	A	T	7: 19,057,740	E278V	possibly damaging	Het
Scpep1	T	A	11: 88,941,296	I203F	probably damaging	Het
Sec24d	T	C	3: 123,354,947	C747R	probably damaging	Het
Sec31a	A	T	5: 100,368,333	N967K	probably damaging	Het
Sell	T	C	1: 164,063,062	W5R	probably benign	Het
Siglec1	C	T	2: 131,069,869	V1697M	probably benign	Het
Slc22a26	T	A	19: 7,791,054	I213L	probably benign	Het
Slc2a13	G	A	15: 91,412,212	P300S	probably benign	Het
Slco1a4	A	G	6: 141,815,505	Y461H	possibly damaging	Het
Slco3a1	G	C	7: 74,320,556	C434W	probably null	Het
Sp3	A	T	2: 72,938,289	V666D	probably benign	Het
Spidr	A	T	16: 16,118,942	W100R	possibly damaging	Het
Stk33	T	A	7: 109,327,595	M286L	probably damaging	Het
Sult1c2	T	A	17: 53,832,135	I183F	probably benign	Het
Svep1	G	T	4: 58,087,751	T1776K	probably benign	Het
Tesk2	A	G	4: 116,802,993	H436R	probably benign	Het
Tex2	T	C	11: 106,568,404	T67A	probably damaging	Het
Timm10	T	C	2: 84,829,848	S44P	possibly damaging	Het
Tmed11	C	A	5: 108,795,182		probably null	Het
Trim12c	G	A	7: 104,340,948	R441C	probably damaging	Het
Trmt2a	A	G	16: 18,252,929	K509E	probably damaging	Het
Upk3a	A	G	15: 85,019,423	T108A	probably benign	Het
Usp29	A	G	7: 6,962,159	M334V	probably benign	Het
Vash1	A	G	12: 86,680,142	D52G	probably benign	Het
Vmn2r14	T	G	5: 109,220,380	T249P	probably benign	Het
Vmn2r43	A	T	7: 8,244,849	F772I	probably damaging	Het
Vmn2r75	G	T	7: 86,171,579	S49Y	probably benign	Het
Zan	A	G	5: 137,386,456	L5102P	unknown	Het
Zfp160	T	A	17: 21,020,081	S9T	probably benign	Het
Zfp273	A	T	13: 67,825,554	H267L	probably damaging	Het
Zfp97	T	A	17: 17,144,776	I179K	probably benign	Het
Zfp975	T	C	7: 42,662,292	Y299C	probably damaging	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
R2157:Xdh	UTSW	17	73922537	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
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'- TCAAGTTGGAGGGTCATTCTC -3'
(R):5'- TCCTGGCACACTGATGCTAAG -3'

Sequencing Primer
(F):5'- GGTCATTCTCCAGAGGATTCAAAG -3'
(R):5'- GCACACTGATGCTAAGTTCTTG -3'

Posted On

2016-03-17