Mutagenetix > Incidental Mutation

Incidental Mutation 'R7503:Xdh'

581645

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

045576-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R7503 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74190890-74257191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74233205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 207 (D207E)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

probably damaging
Transcript: ENSMUST00000024866
AA Change: D207E

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

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: D207E

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

0.2757

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (63/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	G	A	8: 12,329,554 (GRCm39)	G3D	unknown	Het
Aif1	A	T	17: 35,390,549 (GRCm39)	I67N	probably damaging	Het
Akap11	T	C	14: 78,749,441 (GRCm39)	D982G		Het
Anpep	A	G	7: 79,476,385 (GRCm39)	L827P	probably damaging	Het
Arhgef5	A	T	6: 43,250,933 (GRCm39)	K561N	probably benign	Het
Arsj	T	C	3: 126,158,493 (GRCm39)	F24S	probably benign	Het
Bard1	T	C	1: 71,069,995 (GRCm39)	D661G	probably damaging	Het
Cc2d2b	A	G	19: 40,783,056 (GRCm39)	I618V	unknown	Het
Cfap251	G	T	5: 123,435,521 (GRCm39)	E994*	probably null	Het
Cfap54	T	A	10: 92,723,298 (GRCm39)		probably null	Het
Cfhr2	T	A	1: 139,758,952 (GRCm39)	I33F	probably damaging	Het
Dsc1	G	A	18: 20,218,922 (GRCm39)	H827Y	probably damaging	Het
Eif3i	C	T	4: 129,494,207 (GRCm39)	D31N	probably damaging	Het
Eno1b	A	T	18: 48,179,878 (GRCm39)	T19S	probably damaging	Het
Eva1a	G	A	6: 82,048,210 (GRCm39)	W29*	probably null	Het
Evc	T	C	5: 37,458,111 (GRCm39)	K803R	unknown	Het
F5	T	A	1: 164,019,779 (GRCm39)	N751K	probably damaging	Het
Fam120a	A	T	13: 49,102,723 (GRCm39)	N177K	probably benign	Het
Farp2	T	G	1: 93,495,219 (GRCm39)	I164R	probably benign	Het
Gm20379	C	T	13: 92,442,565 (GRCm39)	P26L		Het
Hmgcs2	T	C	3: 98,209,940 (GRCm39)	S433P	probably damaging	Het
Inava	T	C	1: 136,143,675 (GRCm39)	D587G	possibly damaging	Het
Ints2	T	C	11: 86,122,881 (GRCm39)	T633A	probably benign	Het
Invs	C	T	4: 48,396,347 (GRCm39)	T340M	probably damaging	Het
Mef2c	A	C	13: 83,810,623 (GRCm39)	D391A	possibly damaging	Het
Msh4	A	C	3: 153,573,387 (GRCm39)	S756A	probably damaging	Het
Mylk3	T	C	8: 86,080,218 (GRCm39)	T490A	probably benign	Het
Myo1b	A	T	1: 51,815,761 (GRCm39)		probably null	Het
Nsmce1	A	G	7: 125,071,106 (GRCm39)	S107P	probably benign	Het
Or52a24	T	A	7: 103,381,474 (GRCm39)	S114T	probably damaging	Het
Or5d43	T	C	2: 88,105,039 (GRCm39)	Y118C	probably damaging	Het
Pcdhb21	G	A	18: 37,648,028 (GRCm39)	D386N	probably benign	Het
Pcdhb22	T	G	18: 37,652,155 (GRCm39)	L208V	probably benign	Het
Pigu	C	T	2: 155,173,064 (GRCm39)		probably null	Het
Plcz1	T	A	6: 139,936,474 (GRCm39)	E585V	probably damaging	Het
Pnpla7	C	A	2: 24,873,544 (GRCm39)	C183*	probably null	Het
Pomgnt1	T	C	4: 116,009,949 (GRCm39)	V133A	possibly damaging	Het
Prl3d3	A	G	13: 27,345,096 (GRCm39)	Y156C	probably benign	Het
Prpf39	A	G	12: 65,100,167 (GRCm39)	D280G	probably benign	Het
Recql5	C	A	11: 115,785,881 (GRCm39)	A631S	probably benign	Het
Runx3	C	A	4: 134,882,679 (GRCm39)	N138K	probably damaging	Het
Scaper	T	C	9: 55,715,038 (GRCm39)	D750G	probably damaging	Het
Slc16a3	T	C	11: 120,847,853 (GRCm39)	L347P	probably damaging	Het
Slc25a1	G	T	16: 17,744,303 (GRCm39)	Y209*	probably null	Het
Smad2	A	G	18: 76,419,956 (GRCm39)	S88G	probably benign	Het
Sorcs1	A	G	19: 50,141,490 (GRCm39)	C1125R	probably benign	Het
Spata21	T	A	4: 140,822,614 (GRCm39)	I140N	probably benign	Het
Speer3	A	T	5: 13,843,348 (GRCm39)	D85V	probably benign	Het
Spopfm1	A	T	3: 94,173,780 (GRCm39)	M259L	probably benign	Het
Stra6	A	G	9: 58,058,528 (GRCm39)	N463S	possibly damaging	Het
Tmem14a	T	G	1: 21,299,623 (GRCm39)		probably null	Het
Tsc1	T	A	2: 28,577,088 (GRCm39)	L1130Q	possibly damaging	Het
Ttn	T	C	2: 76,611,401 (GRCm39)	D17377G	possibly damaging	Het
Utf1	A	G	7: 139,524,046 (GRCm39)	D87G	probably damaging	Het
Vmn2r6	G	A	3: 64,447,372 (GRCm39)	Q565*	probably null	Het
Vmn2r63	A	T	7: 42,583,014 (GRCm39)	M67K	probably benign	Het
Vmn2r90	T	C	17: 17,933,510 (GRCm39)	Y357H	not run	Het
Vmn2r97	A	G	17: 19,148,470 (GRCm39)	T122A	probably benign	Het
Wdhd1	T	C	14: 47,488,248 (GRCm39)	E753G	probably benign	Het
Wdr11	A	G	7: 129,204,834 (GRCm39)	N213S	probably benign	Het
Zfp281	T	A	1: 136,554,678 (GRCm39)	I552N	possibly damaging	Het
Zzef1	T	A	11: 72,716,893 (GRCm39)	I361K	probably damaging	Het

Other mutations in Xdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Xdh	APN	17	74,230,101 (GRCm39)	missense	possibly damaging	0.58
IGL00556:Xdh	APN	17	74,191,430 (GRCm39)	makesense	probably null
IGL01524:Xdh	APN	17	74,230,132 (GRCm39)	critical splice acceptor site	probably null
IGL01604:Xdh	APN	17	74,216,332 (GRCm39)	missense	probably benign	0.02
IGL01625:Xdh	APN	17	74,223,781 (GRCm39)	critical splice donor site	probably null
IGL01778:Xdh	APN	17	74,207,275 (GRCm39)	missense	probably benign	0.00
IGL01804:Xdh	APN	17	74,199,754 (GRCm39)	missense	probably damaging	1.00
IGL01825:Xdh	APN	17	74,198,240 (GRCm39)	missense	probably damaging	1.00
IGL01929:Xdh	APN	17	74,241,850 (GRCm39)	missense	probably damaging	1.00
IGL02068:Xdh	APN	17	74,220,945 (GRCm39)	missense	probably damaging	1.00
IGL02079:Xdh	APN	17	74,198,272 (GRCm39)	missense	probably damaging	1.00
IGL02210:Xdh	APN	17	74,250,890 (GRCm39)	missense	probably benign	0.00
IGL02261:Xdh	APN	17	74,220,960 (GRCm39)	missense	possibly damaging	0.81
IGL02365:Xdh	APN	17	74,250,885 (GRCm39)	missense	probably benign	0.14
IGL02424:Xdh	APN	17	74,233,565 (GRCm39)	missense	probably benign	0.00
IGL02491:Xdh	APN	17	74,193,459 (GRCm39)	missense	probably damaging	0.99
IGL02525:Xdh	APN	17	74,231,990 (GRCm39)	missense	possibly damaging	0.91
IGL02578:Xdh	APN	17	74,213,241 (GRCm39)	missense	probably damaging	1.00
IGL02793:Xdh	APN	17	74,207,576 (GRCm39)	missense	probably damaging	1.00
IGL02939:Xdh	APN	17	74,250,840 (GRCm39)	critical splice donor site	probably null
IGL03327:Xdh	APN	17	74,223,787 (GRCm39)	missense	probably benign
IGL03345:Xdh	APN	17	74,213,027 (GRCm39)	missense	probably damaging	0.98
IGL03353:Xdh	APN	17	74,202,781 (GRCm39)	missense	possibly damaging	0.65
inky	UTSW	17	74,228,346 (GRCm39)	missense	probably damaging	1.00
nucleus	UTSW	17	74,206,007 (GRCm39)	nonsense	probably null
squidgame	UTSW	17	74,246,831 (GRCm39)	missense	probably benign
R0018:Xdh	UTSW	17	74,232,020 (GRCm39)	missense	probably benign	0.00
R0018:Xdh	UTSW	17	74,232,020 (GRCm39)	missense	probably benign	0.00
R0033:Xdh	UTSW	17	74,214,627 (GRCm39)	missense	probably benign	0.06
R0079:Xdh	UTSW	17	74,198,213 (GRCm39)	missense	probably damaging	1.00
R0086:Xdh	UTSW	17	74,191,433 (GRCm39)	missense	probably benign
R0319:Xdh	UTSW	17	74,213,096 (GRCm39)	splice site	probably benign
R0336:Xdh	UTSW	17	74,229,458 (GRCm39)	missense	possibly damaging	0.91
R0389:Xdh	UTSW	17	74,205,357 (GRCm39)	missense	probably damaging	1.00
R0684:Xdh	UTSW	17	74,250,886 (GRCm39)	missense	probably damaging	0.97
R0930:Xdh	UTSW	17	74,230,077 (GRCm39)	missense	probably benign	0.00
R1073:Xdh	UTSW	17	74,246,831 (GRCm39)	missense	probably benign
R1114:Xdh	UTSW	17	74,248,144 (GRCm39)	splice site	probably benign
R1201:Xdh	UTSW	17	74,225,413 (GRCm39)	missense	probably benign	0.05
R1230:Xdh	UTSW	17	74,198,251 (GRCm39)	missense	probably damaging	1.00
R1351:Xdh	UTSW	17	74,230,073 (GRCm39)	missense	probably benign	0.02
R1470:Xdh	UTSW	17	74,198,107 (GRCm39)	missense	probably damaging	1.00
R1470:Xdh	UTSW	17	74,198,107 (GRCm39)	missense	probably damaging	1.00
R1485:Xdh	UTSW	17	74,221,014 (GRCm39)	nonsense	probably null
R1548:Xdh	UTSW	17	74,220,896 (GRCm39)	missense	probably damaging	0.98
R1637:Xdh	UTSW	17	74,207,573 (GRCm39)	missense	probably benign
R1641:Xdh	UTSW	17	74,233,547 (GRCm39)	missense	probably benign
R1758:Xdh	UTSW	17	74,217,204 (GRCm39)	missense	probably damaging	1.00
R1951:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R1969:Xdh	UTSW	17	74,199,746 (GRCm39)	missense	possibly damaging	0.55
R2024:Xdh	UTSW	17	74,228,300 (GRCm39)	missense	possibly damaging	0.92
R2080:Xdh	UTSW	17	74,216,320 (GRCm39)	missense	probably damaging	1.00
R2157:Xdh	UTSW	17	74,229,532 (GRCm39)	missense	probably damaging	1.00
R2300:Xdh	UTSW	17	74,198,260 (GRCm39)	missense	probably damaging	1.00
R3783:Xdh	UTSW	17	74,200,590 (GRCm39)	splice site	probably benign
R3796:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3797:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3798:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3799:Xdh	UTSW	17	74,214,653 (GRCm39)	missense	probably damaging	1.00
R3819:Xdh	UTSW	17	74,213,720 (GRCm39)	missense	probably benign	0.35
R4085:Xdh	UTSW	17	74,223,874 (GRCm39)	missense	probably benign	0.35
R4240:Xdh	UTSW	17	74,202,790 (GRCm39)	missense	possibly damaging	0.72
R4356:Xdh	UTSW	17	74,222,685 (GRCm39)	missense	probably benign	0.01
R4522:Xdh	UTSW	17	74,205,339 (GRCm39)	missense	probably damaging	1.00
R4523:Xdh	UTSW	17	74,205,339 (GRCm39)	missense	probably damaging	1.00
R4524:Xdh	UTSW	17	74,205,339 (GRCm39)	missense	probably damaging	1.00
R4600:Xdh	UTSW	17	74,217,195 (GRCm39)	missense	probably benign	0.19
R4617:Xdh	UTSW	17	74,225,389 (GRCm39)	missense	probably damaging	0.99
R4756:Xdh	UTSW	17	74,193,381 (GRCm39)	missense	probably benign	0.24
R4761:Xdh	UTSW	17	74,217,262 (GRCm39)	missense	possibly damaging	0.91
R4815:Xdh	UTSW	17	74,213,210 (GRCm39)	missense	probably damaging	1.00
R4850:Xdh	UTSW	17	74,205,330 (GRCm39)	missense	probably damaging	1.00
R4896:Xdh	UTSW	17	74,217,238 (GRCm39)	missense	probably damaging	0.96
R4897:Xdh	UTSW	17	74,207,703 (GRCm39)	missense	probably benign
R4923:Xdh	UTSW	17	74,231,931 (GRCm39)	missense	possibly damaging	0.72
R4977:Xdh	UTSW	17	74,205,965 (GRCm39)	missense	probably benign	0.05
R5030:Xdh	UTSW	17	74,198,288 (GRCm39)	missense	probably damaging	1.00
R5185:Xdh	UTSW	17	74,232,006 (GRCm39)	missense	probably damaging	1.00
R5347:Xdh	UTSW	17	74,232,027 (GRCm39)	missense	probably benign
R5556:Xdh	UTSW	17	74,204,759 (GRCm39)	missense	probably benign	0.21
R5566:Xdh	UTSW	17	74,200,617 (GRCm39)	missense	probably damaging	1.00
R5568:Xdh	UTSW	17	74,250,880 (GRCm39)	missense	possibly damaging	0.90
R5635:Xdh	UTSW	17	74,220,870 (GRCm39)	missense	possibly damaging	0.92
R5662:Xdh	UTSW	17	74,248,110 (GRCm39)	missense	probably damaging	0.99
R5955:Xdh	UTSW	17	74,205,315 (GRCm39)	missense	probably damaging	1.00
R6058:Xdh	UTSW	17	74,213,264 (GRCm39)	missense	probably damaging	1.00
R6061:Xdh	UTSW	17	74,228,342 (GRCm39)	missense	probably damaging	1.00
R6412:Xdh	UTSW	17	74,242,902 (GRCm39)	missense	probably benign	0.09
R6526:Xdh	UTSW	17	74,207,546 (GRCm39)	missense	probably damaging	0.97
R6558:Xdh	UTSW	17	74,200,708 (GRCm39)	missense	possibly damaging	0.95
R6843:Xdh	UTSW	17	74,230,125 (GRCm39)	missense	probably damaging	1.00
R6932:Xdh	UTSW	17	74,229,557 (GRCm39)	missense	probably damaging	0.99
R7028:Xdh	UTSW	17	74,250,868 (GRCm39)	missense	probably damaging	0.99
R7418:Xdh	UTSW	17	74,220,960 (GRCm39)	missense	possibly damaging	0.81
R7653:Xdh	UTSW	17	74,204,040 (GRCm39)	missense	probably benign	0.10
R7763:Xdh	UTSW	17	74,241,829 (GRCm39)	missense	possibly damaging	0.69
R7768:Xdh	UTSW	17	74,246,831 (GRCm39)	missense	probably benign
R7904:Xdh	UTSW	17	74,229,467 (GRCm39)	missense	probably benign	0.09
R8010:Xdh	UTSW	17	74,216,312 (GRCm39)	nonsense	probably null
R8067:Xdh	UTSW	17	74,207,652 (GRCm39)	missense	probably benign	0.01
R8238:Xdh	UTSW	17	74,193,412 (GRCm39)	missense	probably benign
R8253:Xdh	UTSW	17	74,225,377 (GRCm39)	missense	possibly damaging	0.94
R8346:Xdh	UTSW	17	74,220,938 (GRCm39)	missense	probably damaging	1.00
R8350:Xdh	UTSW	17	74,241,837 (GRCm39)	missense	probably damaging	1.00
R8381:Xdh	UTSW	17	74,219,456 (GRCm39)	missense	probably benign
R8427:Xdh	UTSW	17	74,242,926 (GRCm39)	missense	probably damaging	1.00
R8465:Xdh	UTSW	17	74,206,007 (GRCm39)	nonsense	probably null
R8478:Xdh	UTSW	17	74,213,053 (GRCm39)	missense	probably benign	0.00
R8680:Xdh	UTSW	17	74,229,500 (GRCm39)	missense	probably benign
R8802:Xdh	UTSW	17	74,225,405 (GRCm39)	missense	probably benign	0.00
R8984:Xdh	UTSW	17	74,228,346 (GRCm39)	missense	probably damaging	1.00
R8985:Xdh	UTSW	17	74,228,346 (GRCm39)	missense	probably damaging	1.00
R8995:Xdh	UTSW	17	74,205,369 (GRCm39)	missense	probably damaging	1.00
R9035:Xdh	UTSW	17	74,217,222 (GRCm39)	missense	probably benign
R9149:Xdh	UTSW	17	74,222,688 (GRCm39)	missense	probably benign
R9181:Xdh	UTSW	17	74,232,006 (GRCm39)	missense	probably damaging	1.00
R9357:Xdh	UTSW	17	74,233,541 (GRCm39)	critical splice donor site	probably null
R9357:Xdh	UTSW	17	74,214,711 (GRCm39)	missense	probably damaging	0.97
R9609:Xdh	UTSW	17	74,231,990 (GRCm39)	missense	possibly damaging	0.91
R9803:Xdh	UTSW	17	74,229,455 (GRCm39)	missense	probably benign
X0019:Xdh	UTSW	17	74,225,449 (GRCm39)	missense	probably damaging	1.00
Z1088:Xdh	UTSW	17	74,193,423 (GRCm39)	missense	probably benign
Z1176:Xdh	UTSW	17	74,230,037 (GRCm39)	critical splice donor site	probably null
Z1177:Xdh	UTSW	17	74,204,690 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTTACCTCCTAGGAATGG -3'
(R):5'- TGAAGATGCTCATCACCTCTGG -3'

Sequencing Primer
(F):5'- TACCTCCTAGGAATGGCAGGAAAAAG -3'
(R):5'- ATCACCTCTGGCTTCTCTGG -3'

Posted On

2019-10-17