Mutagenetix > Incidental Mutation

Incidental Mutation 'R4915:Ugt1a10'

379882

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a10

Ensembl Gene

ENSMUSG00000090165

Gene Name

UDP glycosyltransferase 1 family, polypeptide A10

Synonyms

A13

MMRRC Submission

042517-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R4915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88055388-88219004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88055924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 148 (D148V)

Ref Sequence

ENSEMBL: ENSMUSP00000108767 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113142] [ENSMUST00000138182] [ENSMUST00000173325]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113142
AA Change: D148V

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

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: D148V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	7.3e-231	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138182

SMART Domains

Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	62	7e-11	PFAM
Pfam:UDPGT	58	207	1.9e-90	PFAM
Pfam:Glyco_tran_28_C	137	207	4.8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173165

Predicted Effect

probably benign
Transcript: ENSMUST00000173325

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	61	3.4e-10	PFAM
Pfam:UDPGT	59	210	8.9e-92	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

98% (162/166)

Allele List at MGI

Other mutations in this stock

Total: 135 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	C	9: 103,251,855	Y235*	probably null	Het
1700011H14Rik	A	T	14: 49,232,894	N189K	probably benign	Het
2700049A03Rik	C	T	12: 71,189,646	A1257V	possibly damaging	Het
Aldh8a1	T	C	10: 21,395,763	S463P	probably damaging	Het
Angptl1	T	G	1: 156,844,818	D71E	probably benign	Het
Ank2	T	A	3: 126,942,671		probably benign	Het
Ano1	A	G	7: 144,611,375	S649P	possibly damaging	Het
Arhgef40	A	G	14: 51,990,099	E434G	probably damaging	Het
Asb15	A	T	6: 24,566,293	D415V	probably damaging	Het
Baz2b	T	A	2: 59,914,043	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,378,886	D324G	probably damaging	Het
Bfsp1	C	T	2: 143,827,471	R396Q	probably benign	Het
Bmi1	G	A	2: 18,682,332		probably benign	Het
Bpifb9b	T	A	2: 154,314,106		probably null	Het
Brd9	A	G	13: 73,938,455	E25G	probably damaging	Het
Btbd7	A	T	12: 102,837,787	C331*	probably null	Het
Cdh26	T	C	2: 178,449,821	S58P	probably benign	Het
Cenpj	T	C	14: 56,553,718	D328G	probably damaging	Het
Cherp	T	C	8: 72,468,397	D255G	probably damaging	Het
Clec5a	T	A	6: 40,585,231		probably benign	Het
Cntnap2	T	C	6: 46,530,035		probably benign	Het
Col7a1	G	A	9: 108,966,464	G1529E	unknown	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Cyp2a22	C	A	7: 26,937,770	E196D	probably benign	Het
Cyp4f18	T	A	8: 72,009,054	H63L	probably damaging	Het
Dclk2	A	T	3: 86,824,742		probably null	Het
Ddx6	T	A	9: 44,612,873	D82E	probably damaging	Het
Defb42	A	G	14: 63,048,341	I57V	probably benign	Het
Dennd5a	A	G	7: 109,901,089	F943S	probably damaging	Het
Dip2c	T	A	13: 9,621,869		probably null	Het
Disp2	A	T	2: 118,790,454	S556C	probably damaging	Het
Dnah12	A	T	14: 26,734,570	D816V	probably damaging	Het
Dpy19l3	T	C	7: 35,752,742		probably benign	Het
Efcab11	T	C	12: 99,719,062	D151G	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Evl	G	T	12: 108,686,106	R359L	probably damaging	Het
Fasn	T	G	11: 120,816,646	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966	N388K	probably damaging	Het
Fbxw14	A	T	9: 109,274,524	F40Y	possibly damaging	Het
Fbxw22	A	G	9: 109,383,941	F313L	probably damaging	Het
Fer1l4	T	C	2: 156,031,300	K1287E	probably benign	Het
Fn1	A	T	1: 71,595,809		probably null	Het
Fry	A	T	5: 150,478,863	T790S	probably benign	Het
Fut8	G	T	12: 77,475,044	A486S	probably damaging	Het
Gfra1	A	T	19: 58,267,090	S308R	probably damaging	Het
Gm13030	T	A	4: 138,873,928		probably benign	Het
Gm37150	C	T	9: 72,385,490		noncoding transcript	Het
Gm4450	C	T	3: 98,450,529	V56M	probably damaging	Het
Gm6788	C	T	19: 28,763,264		noncoding transcript	Het
Gm8122	T	C	14: 43,234,116	N65S	unknown	Het
Gnb4	C	T	3: 32,585,087		probably benign	Het
Gprin1	G	T	13: 54,738,073	P796Q	probably damaging	Het
Grin1	A	G	2: 25,298,553		probably benign	Het
Helz2	T	C	2: 181,232,438	R2088G	possibly damaging	Het
Ighv6-6	C	A	12: 114,434,975	R57L	probably damaging	Het
Inpp5f	A	T	7: 128,685,116	D573V	probably damaging	Het
Iqgap3	T	A	3: 88,101,527	I643K	possibly damaging	Het
Itga11	C	A	9: 62,752,248	Y427*	probably null	Het
Kbtbd8	T	G	6: 95,126,534	M388R	possibly damaging	Het
Kif1a	T	A	1: 93,074,978	E233V	probably benign	Het
Krt10	T	C	11: 99,387,508	N275S	probably damaging	Het
Lrrc3	T	C	10: 77,901,419	D61G	probably benign	Het
Mapk8ip3	A	G	17: 24,909,153	S377P	possibly damaging	Het
Mccc1	A	G	3: 35,997,554	L32S	probably benign	Het
Meis1	T	C	11: 19,009,222		probably benign	Het
Mmp11	C	T	10: 75,925,585	A31T	probably damaging	Het
Mthfsl	A	C	9: 88,715,497	L67V	probably damaging	Het
Myo1c	T	G	11: 75,656,309	M1R	probably null	Het
N4bp2	T	A	5: 65,803,504	M506K	probably damaging	Het
Nfix	T	C	8: 84,771,829	I172V	probably benign	Het
Nid1	A	G	13: 13,499,586	E850G	possibly damaging	Het
Nlrp9c	T	C	7: 26,384,460	T565A	probably benign	Het
Nomo1	T	C	7: 46,044,232	F163L	probably benign	Het
Nsd1	T	C	13: 55,247,868	V1197A	possibly damaging	Het
Nsd1	A	G	13: 55,276,528	T1463A	probably benign	Het
Nsf	G	A	11: 103,910,359		probably benign	Het
Olfr1010	T	C	2: 85,754,121		probably benign	Het
Olfr1080	A	G	2: 86,554,055	L23P	probably damaging	Het
Olfr1301	A	T	2: 111,754,380	I44F	probably benign	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Olfr262	A	G	19: 12,241,373	V96A	probably benign	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Pcdha6	T	A	18: 36,968,457	D234E	probably damaging	Het
Pcnx	C	A	12: 81,974,495	F1425L	probably benign	Het
Pdzd9	T	G	7: 120,670,168	N10T	possibly damaging	Het
Pex6	A	T	17: 46,714,056	H345L	probably damaging	Het
Pfkfb3	G	A	2: 11,490,298	Q100*	probably null	Het
Pgm1	G	A	5: 64,100,948	G92E	probably damaging	Het
Pip4k2c	T	C	10: 127,199,327	T391A	possibly damaging	Het
Plcxd2	C	T	16: 45,980,578	W94*	probably null	Het
Ppm1k	T	A	6: 57,510,777	N354Y	probably damaging	Het
Prkcg	T	G	7: 3,330,265	Y624*	probably null	Het
Rabep2	T	C	7: 126,444,922	S517P	probably damaging	Het
Rabgap1l	A	G	1: 160,441,842	I717T	probably benign	Het
Rasef	A	G	4: 73,731,459	C484R	probably damaging	Het
Rdh19	A	G	10: 127,850,244	D75G	probably benign	Het
Rpl21-ps10	T	C	3: 38,107,468		noncoding transcript	Het
Rsl1d1	A	T	16: 11,199,729		probably null	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Rwdd1	T	C	10: 34,009,078	D62G	possibly damaging	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455	N1649S	probably damaging	Het
Slc20a2	C	T	8: 22,561,004	S351L	probably damaging	Het
Slc24a1	A	T	9: 64,947,931	F565I	unknown	Het
Slc4a1	A	G	11: 102,352,453	V784A	probably damaging	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Sox6	T	C	7: 115,476,964	D814G	probably damaging	Het
Spata4	T	C	8: 54,602,436		probably null	Het
Spats2l	A	T	1: 57,902,188	K202M	probably damaging	Het
Speer4b	C	T	5: 27,500,136	E80K	probably benign	Het
Sqle	T	G	15: 59,321,369	Y198*	probably null	Het
Srek1	T	C	13: 103,752,563		probably benign	Het
Srek1	T	C	13: 103,752,686		probably benign	Het
St14	G	A	9: 31,108,664	R50*	probably null	Het
Tcaf1	A	G	6: 42,675,196	V784A	probably damaging	Het
Tfr2	C	T	5: 137,583,411	R587W	probably damaging	Het
Tmpo	A	G	10: 91,149,549	V357A	probably damaging	Het
Trrap	A	T	5: 144,805,735	I1101F	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ttpal	G	A	2: 163,607,477	R84H	probably damaging	Het
Tyk2	T	C	9: 21,111,137	T799A	probably benign	Het
Usp29	C	T	7: 6,961,505	P116S	probably benign	Het
Usp8	A	T	2: 126,720,140	K85*	probably null	Het
Usp9y	C	T	Y: 1,316,735	R1938H	probably damaging	Het
Vmn1r90	T	G	7: 14,562,025	R49S	possibly damaging	Het
Vmn2r71	C	A	7: 85,621,268	N547K	probably damaging	Het
Vps45	T	C	3: 96,019,631	T535A	probably damaging	Het
Yars	A	T	4: 129,210,591		probably benign	Het
Zfp114	T	C	7: 24,177,865	L44P	probably damaging	Het
Zfp36l2	A	G	17: 84,186,262		probably benign	Het
Zfp512	T	C	5: 31,476,865	S407P	probably damaging	Het
Zfp574	C	T	7: 25,080,726	P391L	probably damaging	Het
Zfp607a	T	G	7: 27,878,560	C352G	probably benign	Het
Zfp791	T	A	8: 85,110,951	I95L	probably benign	Het
Zfr	A	C	15: 12,162,112		probably null	Het

Other mutations in Ugt1a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Ugt1a10	APN	1	88055987	missense	possibly damaging	0.72
IGL02219:Ugt1a10	APN	1	88056058	missense	probably benign	0.00
IGL02511:Ugt1a10	APN	1	88055863	missense	probably damaging	1.00
IGL02990:Ugt1a10	APN	1	88055879	missense	probably damaging	1.00
PIT4142001:Ugt1a10	UTSW	1	88216158	small deletion	probably benign
R0201:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R0201:Ugt1a10	UTSW	1	88218249	missense	probably damaging	1.00
R0522:Ugt1a10	UTSW	1	88218249	missense	probably damaging	1.00
R0525:Ugt1a10	UTSW	1	88218249	missense	probably damaging	1.00
R0554:Ugt1a10	UTSW	1	88056095	missense	probably damaging	1.00
R0748:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R0811:Ugt1a10	UTSW	1	88056182	missense	probably benign	0.33
R0812:Ugt1a10	UTSW	1	88056182	missense	probably benign	0.33
R1129:Ugt1a10	UTSW	1	88055609	missense	probably benign
R1207:Ugt1a10	UTSW	1	88216254	missense	probably damaging	1.00
R1432:Ugt1a10	UTSW	1	88216260	missense	probably damaging	1.00
R1457:Ugt1a10	UTSW	1	88055711	missense	probably damaging	1.00
R1469:Ugt1a10	UTSW	1	88216254	missense	probably damaging	1.00
R1972:Ugt1a10	UTSW	1	88056047	missense	probably damaging	1.00
R1973:Ugt1a10	UTSW	1	88056047	missense	probably damaging	1.00
R2039:Ugt1a10	UTSW	1	88055981	missense	probably benign	0.32
R2307:Ugt1a10	UTSW	1	88055947	missense	probably benign	0.01
R3952:Ugt1a10	UTSW	1	88216140	missense	probably damaging	1.00
R3973:Ugt1a10	UTSW	1	88216140	missense	probably damaging	1.00
R4232:Ugt1a10	UTSW	1	88056210	missense	probably benign	0.39
R4392:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R4393:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R4402:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R4417:Ugt1a10	UTSW	1	88055995	missense	probably benign
R4474:Ugt1a10	UTSW	1	88215928	intron	probably benign
R4476:Ugt1a10	UTSW	1	88215928	intron	probably benign
R4515:Ugt1a10	UTSW	1	88056197	missense	probably damaging	1.00
R4579:Ugt1a10	UTSW	1	88056116	missense	probably benign
R4582:Ugt1a10	UTSW	1	88055741	missense	possibly damaging	0.90
R4609:Ugt1a10	UTSW	1	88055482	start codon destroyed	possibly damaging	0.92
R4627:Ugt1a10	UTSW	1	88218390	missense	probably damaging	1.00
R4790:Ugt1a10	UTSW	1	88056287	missense	probably damaging	0.98
R4799:Ugt1a10	UTSW	1	88215928	intron	probably benign
R4910:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R5110:Ugt1a10	UTSW	1	88056252	splice site	probably null
R5168:Ugt1a10	UTSW	1	88055809	missense	probably benign	0.01
R5329:Ugt1a10	UTSW	1	88216254	missense	probably damaging	1.00
R5373:Ugt1a10	UTSW	1	88055910	missense	probably damaging	0.98
R5374:Ugt1a10	UTSW	1	88055910	missense	probably damaging	0.98
R5615:Ugt1a10	UTSW	1	88216158	small deletion	probably benign
R6498:Ugt1a10	UTSW	1	88216140	missense	probably damaging	1.00
R6727:Ugt1a10	UTSW	1	88056257	splice site	probably null
R6809:Ugt1a10	UTSW	1	88055925	missense	probably damaging	0.98
R6924:Ugt1a10	UTSW	1	88055657	missense	probably damaging	0.99
R6967:Ugt1a10	UTSW	1	88215123	missense	probably damaging	1.00
R7913:Ugt1a10	UTSW	1	88055755	missense	probably benign	0.00
R9165:Ugt1a10	UTSW	1	88055787	missense	probably benign	0.00
R9264:Ugt1a10	UTSW	1	88055671	missense	possibly damaging	0.62
R9475:Ugt1a10	UTSW	1	88216260	missense	probably damaging	1.00
S24628:Ugt1a10	UTSW	1	88216158	small deletion	probably benign
X0013:Ugt1a10	UTSW	1	88216254	missense	probably damaging	1.00
Z1088:Ugt1a10	UTSW	1	88055842	missense	probably benign	0.20
Z1190:Ugt1a10	UTSW	1	88216158	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCATCCCAGAGGTGAGTTGG -3'
(R):5'- ACTCTCTCCTTGAAAGTCATGG -3'

Sequencing Primer
(F):5'- GGTTTCTCACACTCTGGAGGAC -3'
(R):5'- CTCTCCTTGAAAGTCATGGTGTCTG -3'

Posted On

2016-04-15