Mutagenetix > Incidental Mutation

Incidental Mutation 'R5110:Ugt1a10'

393780

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a10

Ensembl Gene

ENSMUSG00000090165

Gene Name

UDP glycosyltransferase 1 family, polypeptide A10

Synonyms

A13

MMRRC Submission

042698-MU

Accession Numbers

Essential gene?

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

Stock #

R5110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88055388-88219004 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 88056252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134443 (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: F257L

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

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: F257L

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 null
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

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,295,357		probably null	Het
2310016G11Rik	G	A	7: 44,677,862		noncoding transcript	Het
Abi2	G	A	1: 60,450,121	V98I	probably benign	Het
Adam21	T	C	12: 81,560,215	T258A	probably benign	Het
Adam33	A	T	2: 131,053,770	C542S	probably damaging	Het
Adamts15	A	G	9: 30,921,444	V265A	probably benign	Het
Ahnak	A	T	19: 9,014,759	D4469V	probably damaging	Het
Aicda	A	G	6: 122,561,185	N101D	probably benign	Het
Als2	A	T	1: 59,185,441	D1040E	probably damaging	Het
Car15	T	C	16: 17,835,347	R319G	possibly damaging	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Col1a1	T	C	11: 94,941,593		probably null	Het
Col25a1	A	G	3: 130,584,725	*594W	probably null	Het
Cwf19l2	A	G	9: 3,450,012		probably null	Het
Dctn4	C	T	18: 60,546,315	P236S	probably damaging	Het
Ehmt1	C	A	2: 24,852,790	C459F	probably benign	Het
Enox1	T	C	14: 77,707,687		probably null	Het
Fam136b-ps	A	G	15: 31,276,710		probably benign	Het
Fzd1	T	C	5: 4,756,448	D378G	probably benign	Het
Golga5	G	A	12: 102,472,077	R17Q	probably benign	Het
Hk1	A	T	10: 62,286,651	Y422N	probably damaging	Het
Hsf4	A	G	8: 105,272,795	D255G	probably benign	Het
Ift81	A	G	5: 122,551,058	V665A	probably benign	Het
Igkv13-84	T	C	6: 68,939,608	F3L	probably benign	Het
Kcnh1	T	A	1: 192,337,747	S433R	possibly damaging	Het
Ktn1	A	G	14: 47,704,287		probably benign	Het
Lrp4	A	T	2: 91,497,072	D1471V	possibly damaging	Het
Macf1	A	T	4: 123,368,008	D6990E	probably damaging	Het
Map3k6	G	A	4: 133,247,548		probably benign	Het
Miox	T	A	15: 89,335,556	D82E	probably benign	Het
Olfr722	T	G	14: 49,895,575	I76L	possibly damaging	Het
Ovgp1	G	C	3: 105,977,783	R133P	probably damaging	Het
Per2	G	A	1: 91,429,515	T642I	possibly damaging	Het
Pparg	T	C	6: 115,473,003	V321A	probably damaging	Het
Pptc7	T	A	5: 122,308,249	N17K	probably benign	Het
Prpf19	T	C	19: 10,899,287		probably benign	Het
Rai14	T	C	15: 10,690,410		probably benign	Het
Sardh	T	C	2: 27,189,547	D911G	probably benign	Het
Sbf2	T	A	7: 110,364,657	T994S	probably benign	Het
Slc1a1	G	A	19: 28,911,808	E494K	probably benign	Het
Smarcc1	A	G	9: 110,197,784	K771E	possibly damaging	Het
St5	A	G	7: 109,542,490	S556P	probably benign	Het
Stim1	T	C	7: 102,268,422	V3A	unknown	Het
Syne3	G	A	12: 104,943,370	R736C	probably benign	Het
Synj2	T	C	17: 6,037,715	V986A	probably benign	Het
Tinag	A	G	9: 76,952,007	S440P	probably damaging	Het
Tshz2	A	G	2: 169,884,197	T238A	possibly damaging	Het
Ttc8	T	C	12: 98,942,303	M17T	probably benign	Het
Tubgcp5	G	A	7: 55,808,637	R432Q	probably damaging	Het
Usp4	T	A	9: 108,362,678	I202N	probably damaging	Het
Vmn1r194	T	G	13: 22,245,000	S262R	probably benign	Het
Vmn2r101	T	C	17: 19,611,635	F631S	possibly damaging	Het
Vps13b	T	A	15: 35,770,809	S2133T	probably damaging	Het
Zfp13	C	A	17: 23,580,860	V77F	probably benign	Het
Zscan10	T	A	17: 23,609,632	C306S	probably damaging	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
R4915:Ugt1a10	UTSW	1	88055924	missense	probably damaging	1.00
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'- CATGACTTTCAAGGAGAGAGTGTGG -3'
(R):5'- AGTCACCTATATGGAATTCTTCTCC -3'

Sequencing Primer
(F):5'- GAGAGTGTGGAACCATTATATGTAC -3'
(R):5'- AGCTCTCCTCATGTGCTA -3'

Posted On

2016-06-15