Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:Ugt2a3'

507145

Institutional Source

Beutler Lab

Gene Symbol

Ugt2a3

Ensembl Gene

ENSMUSG00000035780

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide A3

Synonyms

2010321J07Rik

MMRRC Submission

Accession Numbers

Genbank: NM_028094; MGI: 1919344

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87324972-87337195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87329613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 309 (L309R)

Ref Sequence

ENSEMBL: ENSMUSP00000031195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031195]

AlphaFold

Q8BWQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031195
AA Change: L309R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: L309R

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:UDPGT	24	526	1.2e-233	PFAM
Pfam:Glyco_tran_28_C	318	454	1.5e-10	PFAM

Meta Mutation Damage Score

0.7942

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,540,408	I78T	probably benign	Het
Afg3l1	A	T	8: 123,492,926	I398F	probably damaging	Het
Ahctf1	T	C	1: 179,763,483	H1244R	probably benign	Het
Ank1	A	T	8: 23,109,671	K797N	probably damaging	Het
Anxa6	G	T	11: 54,987,077		probably null	Het
Ap1b1	T	A	11: 5,019,493	V310E	probably damaging	Het
C2cd2l	T	C	9: 44,317,666	I123V	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,529,599		probably null	Het
Cfap54	T	A	10: 93,038,909	I542F	probably damaging	Het
Cfap57	G	T	4: 118,569,451	Y1100*	probably null	Het
Coq9	A	G	8: 94,850,234	E158G	probably benign	Het
Cox15	A	T	19: 43,739,926	W303R	possibly damaging	Het
Cpa5	A	G	6: 30,615,173	Y103C	probably damaging	Het
Crygn	A	T	5: 24,756,191	V39E	probably damaging	Het
Csf1	G	T	3: 107,747,157	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,761,766	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,692,580	V47L	probably damaging	Het
Dock5	C	A	14: 67,790,275	E1057*	probably null	Het
Doxl2	T	A	6: 48,977,682	Y585N	probably benign	Het
Dsg1b	C	A	18: 20,388,163	Q26K	probably benign	Het
Fam181a	T	C	12: 103,316,544	V236A	possibly damaging	Het
Fam78b	C	A	1: 167,078,553	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,654,650	T165P	probably damaging	Het
Flg	C	A	3: 93,288,175		probably benign	Het
Frrs1	G	T	3: 116,903,099	V573F	probably damaging	Het
Gm7298	A	G	6: 121,779,073	T964A	possibly damaging	Het
Hoxd9	G	T	2: 74,698,089	V12L	probably damaging	Het
Ikbkap	T	C	4: 56,762,305	Y1098C	probably damaging	Het
Kcnt1	A	G	2: 25,903,597		probably null	Het
Klhl3	G	T	13: 58,013,842	R480S	probably damaging	Het
Klhl36	A	G	8: 119,870,667	D369G	probably damaging	Het
Lama3	T	A	18: 12,524,737	N303K	probably damaging	Het
Lhcgr	T	C	17: 88,742,704	T465A	probably damaging	Het
Llgl1	T	C	11: 60,712,163	V888A	probably benign	Het
Lrp1b	T	A	2: 40,821,717	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,435,155	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,496,707		probably null	Het
Mtch2	T	C	2: 90,863,648	C279R	probably benign	Het
Muc4	A	T	16: 32,768,767	D2836V	probably damaging	Het
Myh7	T	C	14: 54,989,284	E370G	probably benign	Het
Naa11	A	G	5: 97,392,210	Y30H	probably damaging	Het
Ntng1	T	C	3: 109,935,035	T141A	probably damaging	Het
Olfr1499	A	T	19: 13,815,307	Y94*	probably null	Het
Olfr196	A	C	16: 59,167,293		probably null	Het
Olfr251	T	C	9: 38,378,088	I69T	probably benign	Het
Pcdha12	G	A	18: 37,022,424	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,632,341	Q392*	probably null	Het
Prr22	G	A	17: 56,771,587	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,649,247	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 29,143,068	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,643,260	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Homo
Scgb2b20	A	T	7: 33,364,548	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,946,217	R324*	probably null	Het
Slc23a1	T	C	18: 35,619,571	Y551C	probably damaging	Het
Slc5a5	A	T	8: 70,888,620	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,790,166	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,540,201	K428*	probably null	Het
Tmem63c	T	A	12: 87,081,953	I584N	probably damaging	Het
Traf3ip3	C	T	1: 193,198,036		probably benign	Het
Trgv2	G	A	13: 19,336,831	T31I	probably benign	Het
Ttll3	C	T	6: 113,392,563	R23C	probably benign	Het
Urb1	A	G	16: 90,753,919	M2015T	probably benign	Het
Vmn2r14	A	C	5: 109,221,417	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,951,449	T2727K	probably benign	Het
Xrn1	T	A	9: 95,964,014	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,624,557	V604A	probably benign	Het
Zfp410	G	A	12: 84,331,838	R259H	probably benign	Het
Zfp748	A	G	13: 67,542,586	V185A	possibly damaging	Het

Other mutations in Ugt2a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Ugt2a3	APN	5	87325655	missense	probably damaging	0.99
IGL00542:Ugt2a3	APN	5	87336823	missense	possibly damaging	0.61
IGL01335:Ugt2a3	APN	5	87336785	missense	probably damaging	1.00
IGL01369:Ugt2a3	APN	5	87327120	missense	probably damaging	1.00
IGL01808:Ugt2a3	APN	5	87325555	missense	probably benign	0.09
IGL02380:Ugt2a3	APN	5	87336799	missense	probably benign	0.09
IGL03245:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
IGL03260:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
IGL03261:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
IGL03280:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
IGL03302:Ugt2a3	APN	5	87336580	missense	probably damaging	1.00
D4186:Ugt2a3	UTSW	5	87329613	missense	probably damaging	1.00
R0051:Ugt2a3	UTSW	5	87337006	missense	probably damaging	1.00
R0103:Ugt2a3	UTSW	5	87336718	missense	possibly damaging	0.89
R0103:Ugt2a3	UTSW	5	87336718	missense	possibly damaging	0.89
R0324:Ugt2a3	UTSW	5	87327073	critical splice donor site	probably null
R0401:Ugt2a3	UTSW	5	87336490	missense	probably benign	0.03
R0506:Ugt2a3	UTSW	5	87336649	missense	possibly damaging	0.78
R0903:Ugt2a3	UTSW	5	87327711	missense	probably benign	0.00
R0940:Ugt2a3	UTSW	5	87327206	missense	possibly damaging	0.95
R1121:Ugt2a3	UTSW	5	87327689	missense	probably damaging	0.99
R1296:Ugt2a3	UTSW	5	87327146	missense	probably damaging	0.96
R1527:Ugt2a3	UTSW	5	87325598	missense	probably damaging	1.00
R2104:Ugt2a3	UTSW	5	87329682	splice site	probably null
R2119:Ugt2a3	UTSW	5	87336571	missense	probably damaging	0.98
R2374:Ugt2a3	UTSW	5	87327191	missense	probably damaging	1.00
R3082:Ugt2a3	UTSW	5	87325675	missense	probably benign	0.05
R3853:Ugt2a3	UTSW	5	87337159	missense
R3894:Ugt2a3	UTSW	5	87329590	missense	probably benign	0.09
R4063:Ugt2a3	UTSW	5	87336866	missense	probably benign	0.04
R4274:Ugt2a3	UTSW	5	87327689	missense	probably damaging	0.99
R4739:Ugt2a3	UTSW	5	87327195	missense	probably damaging	0.97
R4879:Ugt2a3	UTSW	5	87331285	missense	probably benign	0.06
R5327:Ugt2a3	UTSW	5	87331315	missense	probably damaging	1.00
R5508:Ugt2a3	UTSW	5	87327200	missense	probably damaging	0.98
R5866:Ugt2a3	UTSW	5	87336547	missense	probably damaging	1.00
R6026:Ugt2a3	UTSW	5	87336477	missense	probably benign	0.00
R6807:Ugt2a3	UTSW	5	87336758	missense	probably benign	0.00
R6980:Ugt2a3	UTSW	5	87325632	missense	probably damaging	1.00
R7056:Ugt2a3	UTSW	5	87337094	missense	probably damaging	0.98
R7133:Ugt2a3	UTSW	5	87325534	missense	possibly damaging	0.61
R7477:Ugt2a3	UTSW	5	87336620	missense	possibly damaging	0.90
R7485:Ugt2a3	UTSW	5	87327680	critical splice donor site	probably null
R7798:Ugt2a3	UTSW	5	87327723	missense	probably damaging	1.00
R7957:Ugt2a3	UTSW	5	87327191	missense	probably damaging	1.00
R8803:Ugt2a3	UTSW	5	87336530	missense	probably damaging	0.98
R8886:Ugt2a3	UTSW	5	87336499	missense	probably damaging	1.00
R8944:Ugt2a3	UTSW	5	87325558	missense	possibly damaging	0.81
R9387:Ugt2a3	UTSW	5	87336973	missense	probably benign	0.38
R9447:Ugt2a3	UTSW	5	87325471	missense	probably benign	0.39
R9524:Ugt2a3	UTSW	5	87337159	missense

Predicted Primers

PCR Primer
(F):5'- CAGCTGCGCTCACAGATTTAAG -3'
(R):5'- GCAGACTATGGAAATAATGACACTCAC -3'

Sequencing Primer
(F):5'- TAAGCTTCCATCTGTAGAGAACCCTG -3'
(R):5'- TGTATCTCACTGTGTAAACCAGACC -3'

Posted On

2018-03-15