Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:Ugt1a10'

695954

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a10

Ensembl Gene

ENSMUSG00000090165

Gene Name

UDP glycosyltransferase 1 family, polypeptide A10

Synonyms

A13

MMRRC Submission

068945-MU

Accession Numbers

Essential gene?

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

Stock #

R9165 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88055388-88219004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88055787 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 102 (E102D)

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 benign
Transcript: ENSMUST00000113142
AA Change: E102D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: E102D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,615,244	I248V	probably benign	Het
1700122O11Rik	T	C	17: 48,037,548	I27V	probably benign	Het
A2ml1	T	A	6: 128,560,669	H693L	probably benign	Het
Acacb	A	G	5: 114,216,683	E1206G	probably benign	Het
Acoxl	A	G	2: 127,884,512	T269A	probably benign	Het
Ak9	A	G	10: 41,433,239	K1879R	unknown	Het
Amot	A	T	X: 145,461,749	L435H		Het
Bnc2	A	T	4: 84,411,494	L95Q		Het
Bpifa2	G	T	2: 154,009,821	W59L	probably benign	Het
Cd209a	T	A	8: 3,745,602	Q156H	probably damaging	Het
Cep104	T	A	4: 153,994,514		probably null	Het
Cpt1c	A	G	7: 44,959,501	*799R	probably null	Het
Csn2	A	T	5: 87,694,559	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,538,369	A872P	probably damaging	Het
Dlg5	C	A	14: 24,146,241	L1629F	probably damaging	Het
Dmxl1	A	G	18: 49,878,925	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,144,941	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,276,706	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883	V2425D	probably damaging	Het
Eif2a	G	A	3: 58,545,274	R199Q	probably damaging	Het
F10	T	C	8: 13,039,564	F60L	probably benign	Het
Faf2	A	G	13: 54,652,138	I253V	probably benign	Het
Fam71a	A	G	1: 191,163,061	S462P	probably benign	Het
Flt1	T	A	5: 147,615,237	S715C	probably damaging	Het
Gm2056	A	G	12: 88,027,307	S102G	possibly damaging	Het
Gm5150	G	T	3: 15,990,896	T55K	probably damaging	Het
Gria1	T	C	11: 57,185,933	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,454,064	Q505R	probably benign	Het
Gzma	A	T	13: 113,100,921	S11T	probably benign	Het
Hoxa6	G	A	6: 52,208,555	Q24*	probably null	Het
Kcnj14	T	A	7: 45,819,644	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,920,771	R149H	probably damaging	Het
Lama2	A	G	10: 27,053,026		probably null	Het
Lama5	C	A	2: 180,179,493	R3092L	probably damaging	Het
Lca5l	T	A	16: 96,176,018	N196I	probably damaging	Het
Lig4	A	G	8: 9,972,394	L462S	probably damaging	Het
Nbea	A	T	3: 56,004,868	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,181,603	F401Y	probably benign	Het
Olfr1335	T	A	4: 118,808,998	R289*	probably null	Het
Olfr1431	A	T	19: 12,209,922	M119L	probably damaging	Het
Olfr1507	A	G	14: 52,490,373	I197T	possibly damaging	Het
Olfr299	A	T	7: 86,465,617	M69L	probably benign	Het
Otop3	A	C	11: 115,344,598	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,272,637	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,816,087	V497F	possibly damaging	Het
Pnma2	G	A	14: 66,917,123	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,331,564	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659	R277P	unknown	Het
Prdm2	A	G	4: 143,132,104	S1539P	possibly damaging	Het
Ptger2	A	G	14: 44,989,778	T272A	probably damaging	Het
Qser1	T	C	2: 104,788,470	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,281,804		probably benign	Het
Sacm1l	G	T	9: 123,568,956	V238L	probably damaging	Het
Sec16a	C	T	2: 26,423,633	G454D		Het
Sil1	A	G	18: 35,317,846	S259P	possibly damaging	Het
Sirpb1b	A	G	3: 15,574,904	L16P	probably damaging	Het
Slc22a20	A	T	19: 5,982,851	V262D	probably damaging	Het
Slc4a9	G	T	18: 36,533,623	R580L	probably benign	Het
Ssr3	A	G	3: 65,383,100	V128A	probably damaging	Het
Stpg2	G	T	3: 139,309,232	S386I	possibly damaging	Het
Taar8c	C	A	10: 24,101,602	C104F	probably damaging	Het
Tex2	T	C	11: 106,567,269	E445G	unknown	Het
Tmem253	A	C	14: 52,018,642	D126A	probably benign	Het
Tox4	A	G	14: 52,285,790	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,811,538	S254C	probably benign	Het
Trmt12	T	G	15: 58,873,745	S331A	probably benign	Het
Ttn	A	G	2: 76,713,006	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,080,734	E431K	unknown	Het
Unc80	A	T	1: 66,549,841	E1055V	probably null	Het
Vav1	C	A	17: 57,311,895	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,432,261	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,732,070	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,679,024		probably benign	Het
Vps33b	G	A	7: 80,274,686		probably null	Het
Vrtn	T	A	12: 84,650,477	L667Q	probably benign	Het
Xirp1	G	A	9: 120,018,236	T527M	probably benign	Het
Ylpm1	T	A	12: 85,030,568	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,701,454	Y251F	possibly damaging	Het
Zmym2	A	T	14: 56,948,007	Y1032F	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
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
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'- TCGACATGCAGATGGTTGTG -3'
(R):5'- GAAAGTCTTGCAAAGATCACTGATG -3'

Sequencing Primer
(F):5'- CAGATGGTTGTGGAGAAACTCATTC -3'
(R):5'- TCACTGATGGGAGTGACAGATACTTG -3'

Posted On

2022-02-07