Mutagenetix > Incidental Mutation

Incidental Mutation 'R6809:Ugt1a10'

533682

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a10

Ensembl Gene

ENSMUSG00000090165

Gene Name

UDP glycosyltransferase 1 family, polypeptide A10

Synonyms

A13

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R6809 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88055388-88219004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88055925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 148 (D148E)

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: D148E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: D148E

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

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,874,282	N61S	probably damaging	Het
A130010J15Rik	T	A	1: 193,174,781	V147E	possibly damaging	Het
Adgrv1	A	T	13: 81,472,953	M3893K	probably benign	Het
Aox3	T	C	1: 58,118,681	S66P	probably damaging	Het
Apeh	G	A	9: 108,092,679	H186Y	probably damaging	Het
Bloc1s5	A	G	13: 38,603,985	V141A	probably benign	Het
Btbd11	A	G	10: 85,631,376	T732A	probably benign	Het
Col28a1	T	C	6: 7,999,468	Y1083C	probably damaging	Het
Crb1	A	G	1: 139,243,126	V842A	probably benign	Het
Dapk1	A	G	13: 60,751,289	S858G	probably benign	Het
Dlgap2	G	T	8: 14,179,619		probably benign	Het
Dpysl4	A	G	7: 139,093,660	D199G	probably benign	Het
Eml6	C	T	11: 29,803,161	V917I	probably benign	Het
Fut9	T	A	4: 25,620,647	T56S	probably benign	Het
Gm6205	C	A	5: 94,683,418	Q95K	probably benign	Het
Gtdc1	G	C	2: 44,575,551	S214*	probably null	Het
Gtdc1	A	G	2: 44,825,384	F49S	probably damaging	Het
Hoxd9	A	G	2: 74,699,246	Y282C	probably damaging	Het
Hrc	A	G	7: 45,336,379	E318G	probably benign	Het
Ikzf2	T	C	1: 69,570,502	T195A	probably damaging	Het
Krt36	A	T	11: 100,105,509	S30T	probably benign	Het
Lrp1	A	G	10: 127,555,056	F2991L	probably benign	Het
Lrrc34	T	A	3: 30,634,600	Q184L	possibly damaging	Het
Mapk1	A	T	16: 17,035,462	M49L	probably benign	Het
Mroh2a	G	T	1: 88,235,216	Q360H	probably benign	Het
Mrpl48	A	G	7: 100,546,367		probably benign	Het
Ncln	A	G	10: 81,487,678		probably null	Het
Nol4	T	A	18: 22,920,825	Q96L	probably damaging	Het
Olfr1002	G	A	2: 85,647,973	A116V	probably damaging	Het
Olfr1391	G	T	11: 49,327,860	V150L	probably benign	Het
Padi2	A	G	4: 140,946,766		probably null	Het
Pak7	T	G	2: 136,097,581	I545L	possibly damaging	Het
Paqr5	T	A	9: 61,968,782	R157W	probably null	Het
Pard3b	G	A	1: 62,161,181	R293H	probably damaging	Het
Phf11d	C	A	14: 59,356,395	C110F	probably damaging	Het
Pkn2	G	A	3: 142,799,004	P804S	probably damaging	Het
Pnpla6	G	A	8: 3,534,611	C743Y	possibly damaging	Het
Pramef17	A	G	4: 143,993,081	V238A	probably benign	Het
Psip1	A	G	4: 83,468,642	M164T	probably benign	Het
Rgs22	C	G	15: 36,048,764	S914T	probably damaging	Het
Rufy4	G	A	1: 74,133,047	V310I	probably benign	Het
Ryr2	G	A	13: 11,726,930	L2122F	probably damaging	Het
Sgcb	T	G	5: 73,640,693	N142T	probably benign	Het
Slc27a6	A	G	18: 58,605,054	E394G	probably benign	Het
Slc29a2	T	C	19: 5,029,243	V298A	probably damaging	Het
Slf2	C	A	19: 44,943,468	T654N	probably damaging	Het
Spata4	A	C	8: 54,602,333	K123Q	possibly damaging	Het
Taar7b	T	C	10: 24,000,858	V307A	probably benign	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Ttn	T	C	2: 76,863,639	E295G	possibly damaging	Het
Ubqln4	A	T	3: 88,555,372	Q48L	possibly damaging	Het
Vmn2r85	T	A	10: 130,425,926	N181Y	probably benign	Het
Wdfy3	C	T	5: 101,923,947	V1026I	possibly 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
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
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'- GTCATCCCAGAGGTGAGTTG -3'
(R):5'- CTCCTTGAAAGTCATGGTGTCTG -3'

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

Posted On

2018-09-12