Mutagenetix > Incidental Mutation

Incidental Mutation 'R6541:Ugt1a9'

520730

Institutional Source

Beutler Lab

Gene Symbol

Ugt1a9

Ensembl Gene

ENSMUSG00000090175

Gene Name

UDP glucuronosyltransferase 1 family, polypeptide A9

Synonyms

mUGTBr/P, A12

MMRRC Submission

044667-MU

Accession Numbers

Essential gene?

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

Stock #

R6541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87998522-88146719 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87999318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 256 (V256E)

Ref Sequence

ENSEMBL: ENSMUSP00000073444 (fasta)

Gene Model

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

AlphaFold

Q62452

Predicted Effect

probably damaging
Transcript: ENSMUST00000073772
AA Change: V256E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073444
Gene: ENSMUSG00000090175
AA Change: V256E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ass1	T	C	2: 31,400,245 (GRCm39)	V321A	probably damaging	Het
BC028528	T	A	3: 95,795,530 (GRCm39)	M91L	probably benign	Het
Bicra	T	C	7: 15,713,054 (GRCm39)	T998A	probably benign	Het
Cdkl3	T	G	11: 51,913,571 (GRCm39)	L220R	probably damaging	Het
Cluh	A	G	11: 74,548,040 (GRCm39)	D117G	probably damaging	Het
Cplane1	T	C	15: 8,248,779 (GRCm39)	V1776A	possibly damaging	Het
Crygf	T	C	1: 65,967,224 (GRCm39)	F116S	probably damaging	Het
Ergic2	T	A	6: 148,084,648 (GRCm39)	Y20F	probably damaging	Het
Esf1	A	G	2: 140,009,799 (GRCm39)	V179A	probably benign	Het
Gm28360	T	C	1: 117,758,047 (GRCm39)		probably benign	Het
Hhatl	C	T	9: 121,614,210 (GRCm39)	V385I	probably damaging	Het
Iba57	A	T	11: 59,049,689 (GRCm39)	D219E	possibly damaging	Het
Il36b	T	A	2: 24,049,827 (GRCm39)	V146D	probably damaging	Het
Itgal	T	A	7: 126,910,734 (GRCm39)	V176E	probably damaging	Het
Kdm3a	T	C	6: 71,571,517 (GRCm39)	M1060V	possibly damaging	Het
Kif18b	T	C	11: 102,805,092 (GRCm39)	K351R	probably damaging	Het
Mroh9	A	G	1: 162,885,607 (GRCm39)	F342L	possibly damaging	Het
Ndufa11	T	A	17: 57,024,867 (GRCm39)	S10T	probably benign	Het
Or2bd2	A	T	7: 6,443,492 (GRCm39)	N198Y	probably benign	Het
Or5w19	T	C	2: 87,698,638 (GRCm39)	F101S	probably benign	Het
Or6b6	A	T	7: 106,571,410 (GRCm39)	F47Y	probably benign	Het
Or7h8	T	A	9: 20,123,695 (GRCm39)	F17I	probably benign	Het
Pacsin3	A	G	2: 91,093,129 (GRCm39)	E207G	probably damaging	Het
Pcsk1	T	A	13: 75,274,103 (GRCm39)	L136Q	probably damaging	Het
Prr18	G	T	17: 8,560,168 (GRCm39)	R108L	possibly damaging	Het
Rdh5	A	G	10: 128,753,977 (GRCm39)	V44A	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sh2d4b	T	C	14: 40,542,748 (GRCm39)	T343A	probably benign	Het
Slc16a10	T	C	10: 39,913,268 (GRCm39)	N480S	probably benign	Het
Spaca7b	T	A	8: 11,712,613 (GRCm39)	Q79L	probably benign	Het
Sval3	A	T	6: 41,949,380 (GRCm39)	N73Y	probably damaging	Het
Taar7d	T	C	10: 23,904,129 (GRCm39)	I337T	probably benign	Het
Ttn	T	A	2: 76,577,039 (GRCm39)	Q24618L	possibly damaging	Het
Vmn2r108	T	A	17: 20,701,480 (GRCm39)	I7F	probably benign	Het
Vmn2r55	A	G	7: 12,404,939 (GRCm39)	S155P	probably damaging	Het
Vwa3b	T	A	1: 37,090,842 (GRCm39)	V169E	probably damaging	Het

Other mutations in Ugt1a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02198:Ugt1a9	APN	1	87,999,165 (GRCm39)	missense	possibly damaging	0.95
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
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

Predicted Primers

PCR Primer
(F):5'- TGACTTTCAAGGAGAGAGTGTG -3'
(R):5'- TATGCCACAGCTGTACATACTC -3'

Sequencing Primer
(F):5'- GAGAGTGTGGAACCATCTTATCTAC -3'
(R):5'- TGCCACAGCTGTACATACTCATATC -3'

Posted On

2018-06-06