Mutagenetix > Incidental Mutation

Incidental Mutation 'R8985:Xdh'

683998

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73883908-73950182 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73921351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 352 (G352R)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably damaging
Transcript: ENSMUST00000024866
AA Change: G352R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: G352R

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

0.9552

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,087,711		probably benign	Het
Agbl1	C	A	7: 76,320,156	S53R		Het
Ahr	T	C	12: 35,526,737	K65R	possibly damaging	Het
AI429214	A	T	8: 36,993,666		probably benign	Het
Ankrd52	T	C	10: 128,387,109	S643P	probably damaging	Het
Asz1	T	C	6: 18,051,337	T448A	probably benign	Het
Atp10a	A	G	7: 58,788,344	I425V	probably benign	Het
Casd1	T	A	6: 4,624,399	Y397*	probably null	Het
Ccdc162	A	G	10: 41,556,106	I1797T	probably damaging	Het
Cdc20b	A	T	13: 113,059,796	R152*	probably null	Het
Cdc25b	T	C	2: 131,193,260	C313R	probably damaging	Het
Cfap73	T	A	5: 120,630,058	T212S	probably benign	Het
Chd9	G	T	8: 90,994,473	R963L	unknown	Het
Clip4	G	T	17: 71,806,532	V226F	probably damaging	Het
Cmya5	A	G	13: 93,097,156	S475P	possibly damaging	Het
Cntn5	A	G	9: 10,171,955	Y75H	possibly damaging	Het
Crtc1	T	G	8: 70,402,442	H176P	probably damaging	Het
Cspg5	T	C	9: 110,256,434	W558R	unknown	Het
Cyp2c39	A	G	19: 39,563,975	T371A	probably benign	Het
Dcaf8	G	A	1: 172,172,632	R119H	probably benign	Het
Drosha	G	T	15: 12,924,101	A1190S	possibly damaging	Het
Dst	T	C	1: 34,249,805	V5655A	probably benign	Het
Etnk1	C	G	6: 143,195,227		probably benign	Het
Flnc	T	A	6: 29,440,500	V269D	probably benign	Het
Foxs1	T	A	2: 152,933,138		probably benign	Het
Ftsj3	T	C	11: 106,250,769	Y551C	possibly damaging	Het
Fzd6	A	T	15: 39,031,624	H395L	probably damaging	Het
Grm6	C	T	11: 50,855,710	A289V	possibly damaging	Het
Hook1	A	G	4: 96,022,231	D694G	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Igha	T	C	12: 113,258,991	E270G		Het
Itga2b	C	A	11: 102,465,462		probably benign	Het
Jade1	A	C	3: 41,613,713	S739R	probably benign	Het
Lpin3	T	C	2: 160,896,754	S209P	probably benign	Het
Ly6i	A	C	15: 74,979,957	L121R	probably damaging	Het
Ms4a1	C	T	19: 11,254,691	V107I	probably benign	Het
Mycbpap	T	A	11: 94,513,896	T74S	probably benign	Het
Nlrp14	A	G	7: 107,197,229	N921D	probably benign	Het
Nmur1	C	T	1: 86,386,381	E388K	probably benign	Het
Nol4	T	C	18: 22,952,237	Y40C	probably damaging	Het
Olfr376	T	C	11: 73,375,426	S229P	possibly damaging	Het
Olfr639	A	T	7: 104,012,160	C181S	probably damaging	Het
Olfr916	A	T	9: 38,658,325	Y22*	probably null	Het
Pawr	G	A	10: 108,412,000	V283M	possibly damaging	Het
Pde6b	T	C	5: 108,430,637	Y814H	probably benign	Het
Pds5b	T	A	5: 150,800,774	L1272H	probably benign	Het
Pkd1l2	T	C	8: 117,038,110	T1350A	probably benign	Het
Plcz1	T	A	6: 140,016,177	Q216L	possibly damaging	Het
Prodh	A	T	16: 18,072,498	C522S	probably null	Het
Rasef	G	T	4: 73,790,723	P91Q	possibly damaging	Het
Rgs14	G	A	13: 55,383,421		probably benign	Het
Rnase6	A	T	14: 51,130,175	Y8F	unknown	Het
Rnf216	T	A	5: 143,090,425	T235S	probably benign	Het
Slco2a1	G	A	9: 103,072,635		probably null	Het
Smoc1	A	G	12: 81,179,487	E362G	probably damaging	Het
Sncaip	T	C	18: 52,869,097	L230P	probably benign	Het
Tdrd3	A	G	14: 87,506,161	E515G	possibly damaging	Het
Tipin	T	A	9: 64,288,103		probably null	Het
Tmem9	T	A	1: 136,027,407	V93D	possibly damaging	Het
Tpm3-rs7	A	C	14: 113,315,324	I217L	probably benign	Het
Ttc41	A	T	10: 86,731,092	I541F	possibly damaging	Het
Uck2	T	C	1: 167,243,112	D16G	probably benign	Het
Vmn1r50	A	G	6: 90,108,035	D254G	probably benign	Het
Vmn2r50	A	C	7: 10,046,047	F469C	probably damaging	Het
Vmn2r57	A	G	7: 41,399,835	V830A	probably benign	Het
Wwc2	T	A	8: 47,878,884	R299S	probably benign	Het
Xkr9	A	T	1: 13,700,766	M169L	probably benign	Het
Zbtb10	A	G	3: 9,280,747	D767G	probably damaging	Het
Zfp106	T	C	2: 120,535,596	Y65C		Het
Zfp536	A	G	7: 37,568,803	L396P	probably damaging	Het
Znhit1	C	A	5: 136,982,554	C135F	probably damaging	Het
Zscan5b	A	G	7: 6,238,835	E351G	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
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
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'- GGGAATCACTGAATTTGGGGC -3'
(R):5'- GAGTTGACACATGCGTACTTTTC -3'

Sequencing Primer
(F):5'- GGCTCTGTTTCTCTAGAAAAGGACC -3'
(R):5'- CACATGCGTACTTTTCAGAGCTGAG -3'

Posted On

2021-10-11