Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02198:Ugt1a9'

284108

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt1a9

Ensembl Gene

ENSMUSG00000090175

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A9

Synonyms

mUGTBr/P, A12

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

IGL02198

Quality Score

Status

Chromosome

Chromosomal Location

87998522-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87999165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 205 (V205E)

Ref Sequence

ENSEMBL: ENSMUSP00000073444 (fasta)

Gene Model

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

AlphaFold

Q62452

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073772
AA Change: V205E

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175
AA Change: V205E

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: 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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	G	2: 131,388,412 (GRCm39)	I381T	probably damaging	Het
Armt1	T	A	10: 4,404,064 (GRCm39)	F383Y	possibly damaging	Het
Cdca2	A	G	14: 67,932,445 (GRCm39)	V486A	probably benign	Het
Cep78	A	G	19: 15,933,733 (GRCm39)	L615S	probably damaging	Het
Clec2h	C	A	6: 128,650,979 (GRCm39)	C86*	probably null	Het
Cntnap5a	C	T	1: 116,508,262 (GRCm39)	T1258I	probably benign	Het
Dhrs7c	T	A	11: 67,706,628 (GRCm39)	M262K	possibly damaging	Het
Dmpk	C	A	7: 18,822,117 (GRCm39)	F332L	probably damaging	Het
Dnaaf4	G	A	9: 72,876,348 (GRCm39)	V308I	probably benign	Het
Fap	A	G	2: 62,385,142 (GRCm39)	F73L	probably benign	Het
Igsf10	A	T	3: 59,233,399 (GRCm39)	I1778N	possibly damaging	Het
Il6ra	T	C	3: 89,797,655 (GRCm39)	T71A	probably benign	Het
Itpr2	C	A	6: 146,224,725 (GRCm39)	A1389S	probably damaging	Het
Mob3b	T	C	4: 35,083,983 (GRCm39)	N69D	probably damaging	Het
Nr1h3	A	G	2: 91,023,070 (GRCm39)	W21R	probably damaging	Het
Or4f56	A	T	2: 111,703,593 (GRCm39)	N202K	probably damaging	Het
Ovca2	A	G	11: 75,069,596 (GRCm39)	V9A	possibly damaging	Het
Ovch2	T	A	7: 107,394,041 (GRCm39)	K137N	probably damaging	Het
Pabpc1l	A	G	2: 163,869,536 (GRCm39)	N112S	probably damaging	Het
Plekho1	T	A	3: 95,899,496 (GRCm39)	N99I	probably damaging	Het
Recql5	A	C	11: 115,785,499 (GRCm39)	S666A	probably benign	Het
Scn3a	G	T	2: 65,338,833 (GRCm39)	H615Q	probably benign	Het
Sel1l3	A	G	5: 53,297,141 (GRCm39)		probably benign	Het
Slc38a2	A	T	15: 96,590,258 (GRCm39)	S328T	probably damaging	Het
Taok1	T	C	11: 77,466,503 (GRCm39)		probably benign	Het
Tsnax	T	A	8: 125,759,451 (GRCm39)	Y237*	probably null	Het
Ttn	T	A	2: 76,544,974 (GRCm39)	K24382N	probably damaging	Het
Unc80	C	A	1: 66,569,145 (GRCm39)	D933E	possibly damaging	Het
Vnn1	A	T	10: 23,779,323 (GRCm39)	T411S	probably benign	Het
Wdr27	C	A	17: 15,128,860 (GRCm39)	G531V	possibly damaging	Het
Zfp760	G	T	17: 21,941,193 (GRCm39)	V123L	probably benign	Het

Other mutations in Ugt1a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0522:Ugt1a9	UTSW	1	87,999,114 (GRCm39)	missense	probably damaging	0.96
R2137:Ugt1a9	UTSW	1	87,998,759 (GRCm39)	missense	probably benign	0.12
R3118:Ugt1a9	UTSW	1	87,998,562 (GRCm39)	missense	probably benign
R6541:Ugt1a9	UTSW	1	87,999,318 (GRCm39)	missense	probably damaging	0.97
R6745:Ugt1a9	UTSW	1	87,998,898 (GRCm39)	missense	probably benign	0.37
R7710:Ugt1a9	UTSW	1	87,998,831 (GRCm39)	missense	probably benign
R8278:Ugt1a9	UTSW	1	87,999,378 (GRCm39)	missense	possibly damaging	0.58

Posted On

2015-04-16