Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02365:Xdh'

290673

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

Accession Numbers

Essential gene?

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

Stock #

IGL02365

Quality Score

Status

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73943890 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 22 (N22K)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably benign
Transcript: ENSMUST00000024866
AA Change: N22K

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: N22K

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

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933400A11Rik	T	C	X: 169,776,530	N272D	probably benign	Het
Acyp2	A	T	11: 30,649,318	V21E	probably damaging	Het
Adgrl3	A	G	5: 81,512,581	D331G	probably damaging	Het
Arfgef1	A	T	1: 10,199,883	I347N	probably benign	Het
Bfsp1	T	G	2: 143,826,736	E647A	probably damaging	Het
Bhmt	A	T	13: 93,617,638	N354K	probably benign	Het
Brinp3	A	T	1: 146,901,122	T436S	probably benign	Het
Cog7	C	A	7: 121,977,736	M66I	possibly damaging	Het
Csf2rb2	A	T	15: 78,287,060	M333K	possibly damaging	Het
Cyp2u1	A	G	3: 131,298,229	V214A	probably damaging	Het
Dcaf5	A	T	12: 80,398,773	H177Q	probably benign	Het
Dchs1	T	C	7: 105,755,188	T2716A	probably benign	Het
Dsc1	T	C	18: 20,108,816	Q156R	probably damaging	Het
Dspp	G	T	5: 104,176,061	G357W	probably damaging	Het
Efr3b	C	T	12: 3,983,391	V139I	probably benign	Het
Fto	T	G	8: 91,468,375	S265R	probably damaging	Het
Gphb5	A	G	12: 75,415,817		probably benign	Het
Iars	T	C	13: 49,691,499	V162A	probably benign	Het
Klk13	A	C	7: 43,723,866	K107T	possibly damaging	Het
Kpna7	T	A	5: 144,985,733	D507V	possibly damaging	Het
Lamb1	A	T	12: 31,318,345	E1158V	probably damaging	Het
Lonp2	A	T	8: 86,716,365	D818V	possibly damaging	Het
Med15	A	G	16: 17,671,606		probably benign	Het
Olfr470	T	A	7: 107,844,912	N274Y	probably damaging	Het
Olfr810	T	C	10: 129,791,535	D18G	possibly damaging	Het
Olfr965	A	T	9: 39,719,674	Y149F	possibly damaging	Het
Olfr965	G	A	9: 39,720,100	S291N	probably damaging	Het
Plpbp	A	G	8: 27,045,924	I82V	probably benign	Het
Ptprcap	A	G	19: 4,156,268	I117V	probably benign	Het
Rhox12	T	A	X: 38,107,881	D88V	possibly damaging	Het
Rnpc3	A	G	3: 113,608,399	S500P	probably damaging	Het
Sdhd	A	T	9: 50,598,825	Y84N	possibly damaging	Het
Sema6d	G	A	2: 124,656,868	V233I	probably benign	Het
Vegfb	A	T	19: 6,985,487	I140N	probably benign	Het
Vldlr	A	G	19: 27,245,625	Y732C	probably damaging	Het
Vmn2r17	T	A	5: 109,453,309	F824L	probably damaging	Het
Zc3h11a	A	C	1: 133,637,413	N249K	probably benign	Het
Zwilch	T	A	9: 64,160,924	D203V	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
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
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

Posted On

2015-04-16