Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02838:Ugt1a8'

361725

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt1a8

Ensembl Gene

ENSMUSG00000089675

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A8

Synonyms

A116, OTTMUSG00000020811

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

IGL02838

Quality Score

Status

Chromosome

Chromosomal Location

88015550-88146720 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88016399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 271 (Y271N)

Ref Sequence

ENSEMBL: ENSMUSP00000108764 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073772] [ENSMUST00000113139] [ENSMUST00000113142] [ENSMUST00000138182] [ENSMUST00000173325]

AlphaFold

D3Z748

Predicted Effect

probably benign
Transcript: ENSMUST00000073772

SMART Domains

Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	519	2.3e-232	PFAM
Pfam:Glyco_tran_28_C	358	447	4.5e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113139
AA Change: Y271N

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108764
Gene: ENSMUSG00000089675
AA Change: Y271N

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	521	3.6e-237	PFAM
Pfam:Glyco_tran_28_C	360	449	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113142

SMART Domains

Protein: ENSMUSP00000108767
Gene: ENSMUSG00000090165

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl4a	T	C	12: 40,086,303 (GRCm39)	E148G	probably benign	Het
AW551984	A	T	9: 39,505,939 (GRCm39)	F419L	probably damaging	Het
Brpf3	G	A	17: 29,054,758 (GRCm39)	R1100Q	probably benign	Het
Cacna1e	A	G	1: 154,321,394 (GRCm39)	C1222R	probably damaging	Het
Cacna2d3	T	A	14: 29,022,785 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,502,567 (GRCm39)	M775L	probably benign	Het
Ccdc60	A	G	5: 116,272,169 (GRCm39)	S422P	probably damaging	Het
Cdh10	A	T	15: 18,899,849 (GRCm39)	N59Y	probably damaging	Het
Cfap61	T	A	2: 145,789,084 (GRCm39)	C29*	probably null	Het
Fgd5	T	A	6: 91,964,655 (GRCm39)	M138K	probably benign	Het
Gpr107	G	A	2: 31,104,329 (GRCm39)	G545S	probably benign	Het
Greb1l	G	A	18: 10,560,430 (GRCm39)	A1897T	probably damaging	Het
Hcls1	A	G	16: 36,782,781 (GRCm39)	D439G	probably damaging	Het
Iars1	T	A	13: 49,843,965 (GRCm39)	N146K	possibly damaging	Het
Itga5	C	T	15: 103,260,036 (GRCm39)	A619T	probably damaging	Het
Maml3	A	G	3: 51,597,511 (GRCm39)	F412L	probably damaging	Het
Mis18bp1	T	C	12: 65,183,600 (GRCm39)	Y924C	probably damaging	Het
Mtss1	T	C	15: 58,953,364 (GRCm39)	I5V	probably benign	Het
Ninl	A	T	2: 150,797,631 (GRCm39)		probably null	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nts	C	T	10: 102,318,290 (GRCm39)	V138M	probably damaging	Het
Or4q3	A	G	14: 50,583,312 (GRCm39)	S165P	probably damaging	Het
Or5b116	T	A	19: 13,423,299 (GRCm39)	S308T	probably benign	Het
Pard3	A	G	8: 128,153,128 (GRCm39)	R900G	probably damaging	Het
Rbfa	T	C	18: 80,236,050 (GRCm39)	H233R	probably benign	Het
Rundc3a	T	A	11: 102,288,521 (GRCm39)		probably benign	Het
Setdb1	G	T	3: 95,244,579 (GRCm39)		probably null	Het
Synpo	T	A	18: 60,736,872 (GRCm39)	N358I	probably damaging	Het
Tnxb	A	T	17: 34,908,606 (GRCm39)	T1543S	possibly damaging	Het
Vmn2r105	A	C	17: 20,447,847 (GRCm39)	F326V	probably damaging	Het
Vps13c	G	A	9: 67,883,133 (GRCm39)	R3560H	probably damaging	Het
Vps13d	C	T	4: 144,801,595 (GRCm39)	R3510Q	probably benign	Het
Zcchc8	A	T	5: 123,857,546 (GRCm39)		probably benign	Het

Other mutations in Ugt1a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01402:Ugt1a8	APN	1	88,015,617 (GRCm39)	missense	probably benign	0.01
IGL01404:Ugt1a8	APN	1	88,015,617 (GRCm39)	missense	probably benign	0.01
R0220:Ugt1a8	UTSW	1	88,016,057 (GRCm39)	missense	probably benign
R0504:Ugt1a8	UTSW	1	88,016,079 (GRCm39)	missense	probably damaging	1.00
R2087:Ugt1a8	UTSW	1	88,015,995 (GRCm39)	missense	probably damaging	1.00
R3910:Ugt1a8	UTSW	1	88,015,770 (GRCm39)	missense	possibly damaging	0.89
R4297:Ugt1a8	UTSW	1	88,015,826 (GRCm39)	missense	probably benign	0.00
R5213:Ugt1a8	UTSW	1	88,015,845 (GRCm39)	nonsense	probably null
R7048:Ugt1a8	UTSW	1	88,016,024 (GRCm39)	missense	probably benign	0.17
R7592:Ugt1a8	UTSW	1	88,015,904 (GRCm39)	missense	probably benign	0.03
R8698:Ugt1a8	UTSW	1	88,015,952 (GRCm39)	missense	probably damaging	1.00
R9252:Ugt1a8	UTSW	1	88,015,706 (GRCm39)	missense	probably benign	0.20

Posted On

2015-12-18