Mutagenetix > Incidental Mutations

Incidental Mutation 'R5168:Ugt1a10'

397375

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a10

Ensembl Gene

ENSMUSG00000090165

Gene Name

UDP glycosyltransferase 1 family, polypeptide A10

Synonyms

A13

MMRRC Submission

042748-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88055388-88219004 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88055809 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 110 (T110A)

Ref Sequence

ENSEMBL: ENSMUSP00000108767 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113142
AA Change: T110A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165
AA Change: T110A

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,086,070	N478D	probably benign	Het
Acsl1	T	A	8: 46,513,266		probably benign	Het
Aox1	T	A	1: 58,049,402	C116S	probably damaging	Het
Bag6	T	C	17: 35,144,695	L785P	probably damaging	Het
Calcr	T	C	6: 3,708,610	N192S	probably benign	Het
Cntrl	T	A	2: 35,157,655	L1414H	probably damaging	Het
Cntrob	T	A	11: 69,299,990	I849F	possibly damaging	Het
Col6a3	C	T	1: 90,773,639	W2518*	probably null	Het
Cxcl15	T	A	5: 90,795,283	I48K	probably damaging	Het
Dab2	T	C	15: 6,336,443		probably benign	Het
Ddx54	A	G	5: 120,617,032	E82G	probably benign	Het
Dock1	T	C	7: 135,118,908	W1249R	probably damaging	Het
Fam205a1	C	T	4: 42,851,488	V223I	probably damaging	Het
Fras1	A	C	5: 96,708,757	M2000L	probably benign	Het
Gm13103	T	C	4: 143,853,198	V451A	probably benign	Het
Gm1966	T	C	7: 106,596,847		noncoding transcript	Het
Gpr31b	A	T	17: 13,051,439	I281N	probably damaging	Het
Haus5	T	C	7: 30,657,711	T432A	possibly damaging	Het
Hecw2	A	G	1: 53,913,300	S925P	probably damaging	Het
Katnal1	A	G	5: 148,921,322	M26T	possibly damaging	Het
Mccc1	C	T	3: 35,990,780	W71*	probably null	Het
Muc6	G	A	7: 141,639,559		probably benign	Het
Nrbp1	T	A	5: 31,250,137	V397D	probably damaging	Het
Nt5dc1	T	A	10: 34,397,240	E187D	probably benign	Het
Olfr378	T	A	11: 73,425,843	I47F	probably benign	Het
Olfr564	C	T	7: 102,804,321	A281V	probably benign	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Ralgapa1	A	G	12: 55,758,032	V493A	probably benign	Het
Ryr2	T	C	13: 11,752,321	T1228A	probably benign	Het
Slc26a3	G	A	12: 31,468,554	V674I	possibly damaging	Het
Srp68	C	A	11: 116,265,474	E147D	probably damaging	Het
Tacr3	T	C	3: 134,829,559	I96T	probably damaging	Het
Tmem236	T	C	2: 14,192,328		probably null	Het
Tmem62	T	A	2: 120,993,607	N254K	probably benign	Het
Tmem79	A	T	3: 88,333,344	L99Q	probably damaging	Het
Trav6-5	A	T	14: 53,491,516	N78Y	probably benign	Het
Trim33	C	T	3: 103,341,681	Q807*	probably null	Het
Vcl	C	T	14: 21,010,102	T603I	probably damaging	Het
Vps8	A	T	16: 21,457,445	T243S	probably damaging	Het
Vps8	A	C	16: 21,533,099	I323L	probably benign	Het
Zfp746	G	C	6: 48,064,395	Q465E	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGTTCGACATGCAGATGG -3'
(R):5'- TCTTGCAAAGATCACTGATGGG -3'

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

Posted On

2016-07-06