Mutagenetix > Incidental Mutation

Incidental Mutation 'R6924:Ugt1a10'

539766

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: 0.171) question?

Stock #

R6924 (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 88055657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 59 (I59N)

Ref Sequence

ENSEMBL: ENSMUSP00000119985 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113142
AA Change: I59N

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: I59N

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 damaging
Transcript: ENSMUST00000138182
AA Change: I59N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119985
Gene: ENSMUSG00000090165
AA Change: I59N

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

possibly damaging
Transcript: ENSMUST00000173325
AA Change: I59N

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134443
Gene: ENSMUSG00000090165
AA Change: I59N

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,884	H30P	probably damaging	Het
Abhd6	A	T	14: 8,049,850	H213L	possibly damaging	Het
Adam22	T	A	5: 8,367,322	N40I	possibly damaging	Het
Ankrd42	A	G	7: 92,582,016		probably benign	Het
Arhgap40	C	T	2: 158,527,146	R63C	probably benign	Het
Atf7ip	T	G	6: 136,559,757		probably null	Het
Atg7	T	C	6: 114,709,211		probably null	Het
Car6	A	C	4: 150,189,256		probably null	Het
Carmil1	A	T	13: 24,075,684	C302*	probably null	Het
Ccdc117	A	T	11: 5,534,255	M195K	probably benign	Het
Cep95	T	C	11: 106,811,197	M383T	probably damaging	Het
Col20a1	A	G	2: 180,996,850	E419G	probably damaging	Het
Cyp2d9	C	G	15: 82,455,212	R272G	probably damaging	Het
Dhx57	A	T	17: 80,238,815	M1380K	possibly damaging	Het
Dnah14	A	G	1: 181,627,952	S881G	probably benign	Het
Fam126a	T	C	5: 23,986,135		probably null	Het
Fcgbp	T	A	7: 28,093,823	I1084N	probably benign	Het
Fgf17	A	T	14: 70,641,541	C21*	probably null	Het
Gemin4	A	G	11: 76,212,336	L533P	probably damaging	Het
Gkn3	T	C	6: 87,388,802	R12G	probably benign	Het
Gpr161	G	T	1: 165,321,619	R519L	possibly damaging	Het
Grin2a	A	G	16: 9,663,228	V535A	possibly damaging	Het
Gys1	G	A	7: 45,443,635		probably null	Het
Hfm1	C	T	5: 106,850,410		probably null	Het
Hmcn2	T	A	2: 31,350,505		probably null	Het
Hnrnpul2	T	C	19: 8,831,509	Y738H	unknown	Het
Igsf23	A	G	7: 19,941,759	S141P	possibly damaging	Het
Lamc3	A	C	2: 31,938,069	M1423L	probably benign	Het
Lcmt2	T	C	2: 121,140,003	T200A	probably benign	Het
Lgr4	T	C	2: 110,012,439	V899A	probably damaging	Het
Macf1	T	A	4: 123,527,352	R36S	possibly damaging	Het
Mrgprb8	A	G	7: 48,389,123	K181E	possibly damaging	Het
Muc2	G	A	7: 141,697,834	V786M	possibly damaging	Het
Nacc2	T	C	2: 26,090,029	T132A	probably damaging	Het
Nsmce2	T	A	15: 59,378,925	I15K	probably damaging	Het
Olfr726	A	G	14: 50,083,850	I277T	possibly damaging	Het
Olfr9	T	G	10: 128,990,091	Y60D	probably damaging	Het
Otoa	A	T	7: 121,131,501		probably null	Het
Otogl	A	G	10: 107,808,641	I1248T	probably damaging	Het
Ppp1r17	T	A	6: 56,026,022	D32E	probably damaging	Het
Relt	A	C	7: 100,847,261	V427G	probably damaging	Het
Ric1	T	A	19: 29,569,388	V256D	probably damaging	Het
Samhd1	T	C	2: 157,109,483	T445A	probably benign	Het
Sepsecs	T	C	5: 52,664,304	I189V	probably benign	Het
Shroom3	T	A	5: 92,964,403	D1793E	probably damaging	Het
Sim1	C	T	10: 50,908,539	T137I	probably benign	Het
Stk17b	A	T	1: 53,761,059	D253E	possibly damaging	Het
Stmnd1	T	C	13: 46,299,493	V215A	probably benign	Het
Tcl1	A	G	12: 105,218,756	L65P	probably damaging	Het
Tiam2	A	C	17: 3,507,795	K1231N	probably damaging	Het
Tm9sf3	T	C	19: 41,218,278	Y476C	probably damaging	Het
Trim63	T	C	4: 134,321,261	S194P	probably damaging	Het
Vmn2r65	A	G	7: 84,963,990	F7S	probably benign	Het
Zfp775	T	A	6: 48,619,655	H154Q	probably damaging	Het
Zfp804b	C	T	5: 6,769,902	V1018I	probably benign	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
R6809:Ugt1a10	UTSW	1	88055925	missense	probably damaging	0.98
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'- TTACCATGGTTCCTGCAGCC -3'
(R):5'- AAAGATCTCTGCTTCAAGTACTCC -3'

Sequencing Primer
(F):5'- ATGGTTCCTGCAGCCTTTCC -3'
(R):5'- GTCATTAAACAAACCCCTAGAGTGTG -3'

Posted On

2018-11-06