Mutagenetix > Incidental Mutation

Incidental Mutation 'R9609:Xdh'

724123

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: 0.483) question?

Stock #

R9609 (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 A at 73924995 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 240 (Q240L)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024866
AA Change: Q240L

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: Q240L

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

1x: 100.0%
3x: 99.9%
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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,258,549 (GRCm38)	S241P	probably damaging	Het
Adam23	A	T	1: 63,536,943 (GRCm38)	M295L	probably benign	Het
Ano8	T	A	8: 71,481,082 (GRCm38)	D522V	unknown	Het
Asgr2	T	C	11: 70,097,841 (GRCm38)	L120P	probably damaging	Het
Atp5mc2	A	G	15: 102,665,145 (GRCm38)	F79L	probably damaging	Het
Baiap2	C	T	11: 119,957,132 (GRCm38)	R29C	probably damaging	Het
Bicdl2	A	G	17: 23,665,539 (GRCm38)	E145G		Het
Cad	T	C	5: 31,070,674 (GRCm38)		probably null	Het
Dhrs7b	A	G	11: 60,844,295 (GRCm38)	R51G	possibly damaging	Het
Dnah3	A	T	7: 120,071,013 (GRCm38)	Y694N	probably damaging	Het
Dnaja4	G	A	9: 54,709,360 (GRCm38)	G216S	probably null	Het
Dync1h1	T	C	12: 110,640,928 (GRCm38)	V2651A	probably benign	Het
Fbxw28	T	C	9: 109,338,447 (GRCm38)	T81A	probably benign	Het
Fga	A	T	3: 83,032,757 (GRCm38)	I573F	probably damaging	Het
Fgd6	T	A	10: 94,043,812 (GRCm38)	I176N	probably damaging	Het
Fhl5	A	T	4: 25,214,653 (GRCm38)	C41*	probably null	Het
Fibcd1	A	G	2: 31,838,641 (GRCm38)	V68A	probably benign	Het
Fign	T	C	2: 63,979,942 (GRCm38)	D328G	probably benign	Het
Gtpbp10	A	C	5: 5,557,396 (GRCm38)	F15C	probably damaging	Het
Hmcn1	A	T	1: 150,679,595 (GRCm38)	V2475D	probably damaging	Het
Iglv3	A	G	16: 19,241,471 (GRCm38)	S36P	probably damaging	Het
Igsf10	G	T	3: 59,319,448 (GRCm38)	T2268N	probably damaging	Het
Krt75	A	G	15: 101,566,242 (GRCm38)	I473T	probably benign	Het
Lcn3	A	G	2: 25,767,584 (GRCm38)	E162G	possibly damaging	Het
Lnpk	A	G	2: 74,570,954 (GRCm38)	V17A	probably damaging	Het
Malrd1	A	G	2: 15,695,270 (GRCm38)	S643G	unknown	Het
Mcm5	C	T	8: 75,117,540 (GRCm38)	S313F	probably benign	Het
Mlip	T	A	9: 77,138,515 (GRCm38)	L894F	possibly damaging	Het
Muc4	A	T	16: 32,756,860 (GRCm38)	T175S		Het
Nkpd1	A	C	7: 19,523,537 (GRCm38)	I414L	possibly damaging	Het
Nrxn2	C	A	19: 6,490,173 (GRCm38)	N834K	probably damaging	Het
Oacyl	A	G	18: 65,710,528 (GRCm38)	T99A	probably benign	Het
Patj	T	G	4: 98,688,236 (GRCm38)	F570L	probably benign	Het
Piwil4	T	C	9: 14,703,147 (GRCm38)	T107A		Het
Ppp1r12b	G	A	1: 134,896,346 (GRCm38)	Q180*	probably null	Het
Prpf4b	A	G	13: 34,884,049 (GRCm38)	D287G	unknown	Het
Rab17	T	C	1: 90,964,185 (GRCm38)	Y39C	probably damaging	Het
Rbsn	T	A	6: 92,202,584 (GRCm38)	I125F	probably damaging	Het
Rnf207	C	A	4: 152,317,765 (GRCm38)	G74C	probably damaging	Het
Rrs1	T	C	1: 9,546,293 (GRCm38)	L257P	probably benign	Het
Ryr2	T	C	13: 11,668,962 (GRCm38)	E3072G	probably damaging	Het
Scn8a	A	C	15: 100,936,526 (GRCm38)	I68L	possibly damaging	Het
Slc14a1	C	A	18: 78,109,592 (GRCm38)	A367S	probably damaging	Het
Slc26a7	T	A	4: 14,532,636 (GRCm38)	I413F	probably damaging	Het
Slc4a11	T	A	2: 130,688,115 (GRCm38)	T248S	possibly damaging	Het
Spen	A	G	4: 141,488,108 (GRCm38)	I471T	unknown	Het
Tbpl2	C	T	2: 24,087,185 (GRCm38)	D274N	probably damaging	Het
Timm23	A	G	14: 32,180,586 (GRCm38)	M200T	probably benign	Het
Tlr3	T	C	8: 45,397,080 (GRCm38)	I851V	probably benign	Het
Tnfrsf18	T	A	4: 156,028,751 (GRCm38)	V298E	possibly damaging	Het
Trav6-3	A	G	14: 53,430,161 (GRCm38)	N41S	possibly damaging	Het
Trim17	C	A	11: 58,965,138 (GRCm38)	A7D	probably damaging	Het
Ttbk1	T	C	17: 46,447,222 (GRCm38)	T829A	probably damaging	Het
Ugt3a2	A	C	15: 9,361,819 (GRCm38)	E227A	probably damaging	Het
Vmn1r218	C	T	13: 23,136,669 (GRCm38)	T62I	probably benign	Het
Vmn2r100	T	C	17: 19,523,470 (GRCm38)	L465P	probably damaging	Het
Vps13c	A	T	9: 67,934,549 (GRCm38)	Q1951L	probably damaging	Het
Wdcp	A	G	12: 4,850,258 (GRCm38)	D38G	probably damaging	Het
Zc3h4	T	A	7: 16,416,826 (GRCm38)	V23D	unknown	Het
Zkscan8	C	A	13: 21,525,264 (GRCm38)	V155F	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
R7768:Xdh	UTSW	17	73,939,836 (GRCm38)	missense	probably benign
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
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'- GTGCACTGAGATCATTGTGTTCC -3'
(R):5'- GTGCAGCTCTTCCTTCTGAG -3'

Sequencing Primer
(F):5'- ACTGAGATCATTGTGTTCCTCTTAG -3'
(R):5'- CCTTCTGAGTTCAGTTTTACACAAG -3'

Posted On

2022-09-12