Mutagenetix > Incidental Mutation

Incidental Mutation 'R0336:Xdh'

34153

Institutional Source

Beutler Lab

Gene Symbol

Xdh

Ensembl Gene

ENSMUSG00000024066

Gene Name

xanthine dehydrogenase

Synonyms

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

MMRRC Submission

038545-MU

Accession Numbers

Essential gene?

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

Stock #

R0336 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74190890-74257191 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74229458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 332 (V332M)

Ref Sequence

ENSEMBL: ENSMUSP00000024866 (fasta)

Gene Model

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

AlphaFold

Q00519

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024866
AA Change: V332M

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

SMART Domains

Protein: ENSMUSP00000024866
Gene: ENSMUSG00000024066
AA Change: V332M

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

0.1795

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.1%
20x: 97.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,248,481 (GRCm39)	I2743V	probably benign	Het
Adamts16	A	G	13: 70,939,913 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,458,998 (GRCm39)	I427V	probably benign	Het
Arhgef1	T	A	7: 24,621,382 (GRCm39)	F510I	possibly damaging	Het
B3glct	A	G	5: 149,670,057 (GRCm39)	D342G	probably damaging	Het
Bcl2a1c	G	T	9: 114,159,353 (GRCm39)	V44F	probably damaging	Het
Brca1	A	G	11: 101,414,819 (GRCm39)	V1105A	probably benign	Het
Ccn5	C	A	2: 163,674,242 (GRCm39)	A214D	probably damaging	Het
Cep135	A	G	5: 76,749,349 (GRCm39)	H272R	probably benign	Het
Coa8	T	C	12: 111,700,092 (GRCm39)		probably benign	Het
Cog1	A	C	11: 113,553,076 (GRCm39)	H365P	probably benign	Het
Col12a1	A	T	9: 79,609,627 (GRCm39)	L293Q	probably damaging	Het
Col18a1	A	G	10: 76,894,570 (GRCm39)	L1493P	probably damaging	Het
Ctsh	A	G	9: 89,957,791 (GRCm39)	Y290C	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb39	G	T	8: 19,102,985 (GRCm39)	H37N	possibly damaging	Het
Epha3	A	G	16: 63,387,011 (GRCm39)	I875T	probably damaging	Het
Fbrsl1	A	G	5: 110,595,817 (GRCm39)	S73P	probably damaging	Het
Fga	T	C	3: 82,938,164 (GRCm39)	S180P	probably damaging	Het
Fndc1	C	T	17: 7,983,939 (GRCm39)	R1329Q	unknown	Het
Fyn	C	A	10: 39,402,897 (GRCm39)	T223K	possibly damaging	Het
Galnt6	A	T	15: 100,597,087 (GRCm39)	S360T	probably damaging	Het
Grsf1	C	A	5: 88,811,012 (GRCm39)	V336F	probably damaging	Het
Hip1	A	T	5: 135,457,467 (GRCm39)	Y720N	probably benign	Het
Hivep3	G	A	4: 119,961,044 (GRCm39)	E1700K	probably damaging	Het
Ifna6	T	C	4: 88,746,178 (GRCm39)	S176P	probably damaging	Het
Lilrb4b	T	A	10: 51,357,389 (GRCm39)	L75Q	probably benign	Het
Lrig3	C	T	10: 125,802,574 (GRCm39)	T77I	probably benign	Het
Mpped1	C	T	15: 83,720,483 (GRCm39)	P135L	probably damaging	Het
Mss51	T	A	14: 20,533,254 (GRCm39)	I406F	possibly damaging	Het
Mybpc2	T	C	7: 44,155,040 (GRCm39)	N956D	probably damaging	Het
Or4a27	T	C	2: 88,559,498 (GRCm39)	I148M	possibly damaging	Het
Podxl2	G	A	6: 88,826,577 (GRCm39)	T243I	probably benign	Het
Polr2a	C	T	11: 69,627,719 (GRCm39)	R1396Q	possibly damaging	Het
Pramel51	T	C	12: 88,144,961 (GRCm39)	I122V	probably benign	Het
Pygm	C	T	19: 6,438,788 (GRCm39)	R205W	probably damaging	Het
Rfx3	A	G	19: 27,783,662 (GRCm39)	M428T	probably benign	Het
Ric1	A	T	19: 29,565,193 (GRCm39)	T647S	probably damaging	Het
Rictor	G	A	15: 6,806,234 (GRCm39)		probably null	Het
Rnf38	A	T	4: 44,152,350 (GRCm39)		probably benign	Het
Slc6a21	T	A	7: 44,935,892 (GRCm39)	I41K	probably damaging	Het
St8sia4	T	A	1: 95,581,283 (GRCm39)	D153V	probably benign	Het
Stk33	T	C	7: 108,930,681 (GRCm39)	N226S	probably benign	Het
Strn3	A	G	12: 51,708,391 (GRCm39)		probably null	Het
Tlr6	G	T	5: 65,111,289 (GRCm39)	N539K	probably benign	Het
Tmem129	G	T	5: 33,812,946 (GRCm39)	P134Q	probably damaging	Het
Tmem94	A	G	11: 115,678,211 (GRCm39)	I145V	probably benign	Het
Trap1	A	C	16: 3,862,490 (GRCm39)	V596G	probably damaging	Het
Tspan2	A	G	3: 102,642,343 (GRCm39)	I11V	probably null	Het
Ttc23	A	T	7: 67,312,231 (GRCm39)	H46L	probably benign	Het
Txnip	T	A	3: 96,467,295 (GRCm39)	D292E	probably benign	Het
Vmn1r121	T	A	7: 20,832,387 (GRCm39)	I18F	possibly damaging	Het
Vmn1r61	G	A	7: 5,614,066 (GRCm39)	H83Y	probably benign	Het
Vmn1r82	T	C	7: 12,039,248 (GRCm39)	S174P	probably benign	Het
Vmn2r79	A	C	7: 86,651,287 (GRCm39)	T229P	probably benign	Het
Vps13b	T	G	15: 35,455,279 (GRCm39)	Y729*	probably null	Het
Xkr5	C	A	8: 18,990,652 (GRCm39)	R205L	possibly damaging	Het
Zc3h4	T	C	7: 16,169,103 (GRCm39)	S1071P	unknown	Het
Zc3h6	A	G	2: 128,857,332 (GRCm39)	H617R	possibly damaging	Het
Zfp597	A	G	16: 3,684,243 (GRCm39)	V171A	probably benign	Het
Zfp709	T	C	8: 72,644,449 (GRCm39)	F626S	probably damaging	Het
Zfp944	C	A	17: 22,558,009 (GRCm39)	D413Y	probably damaging	Het
Zfp979	A	C	4: 147,697,592 (GRCm39)	S372R	possibly 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
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
R7503:Xdh	UTSW	17	74,233,205 (GRCm39)	missense	probably damaging	1.00
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'- GTTTCTCGGTTGTCTACAGGCCATC -3'
(R):5'- ATAATGTTTGTGTGCCCCGCCC -3'

Sequencing Primer
(F):5'- ACGAACCTGGGTTTGCAT -3'
(R):5'- GAAAGAGTCTTGCTTCAGCC -3'

Posted On

2013-05-09