Mutagenetix > Incidental Mutation

Incidental Mutation 'R2119:Ugt2a3'

231278

Institutional Source

Beutler Lab

Gene Symbol

Ugt2a3

Ensembl Gene

ENSMUSG00000035780

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide A3

Synonyms

2010321J07Rik

MMRRC Submission

040123-MU

Accession Numbers

Genbank: NM_028094; MGI: 1919344

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R2119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87324972-87337195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87336571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 198 (M198K)

Ref Sequence

ENSEMBL: ENSMUSP00000031195 (fasta)

Gene Model

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

AlphaFold

Q8BWQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031195
AA Change: M198K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: M198K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,538,872	L143M	possibly damaging	Het
Actbl2	G	A	13: 111,255,160	V10I	probably benign	Het
Adamts12	C	T	15: 11,310,579	T974I	probably damaging	Het
Aifm2	G	A	10: 61,735,604	V306M	possibly damaging	Het
Arhgef38	T	C	3: 133,160,753	K208E	probably benign	Het
Atxn7l3	C	A	11: 102,291,981	R278L	possibly damaging	Het
Bcl9	A	G	3: 97,208,915	L821P	probably benign	Het
Cdh19	C	T	1: 110,919,590	V430I	probably benign	Het
Clns1a	T	A	7: 97,713,904		probably null	Het
Col3a1	T	A	1: 45,346,121	C133S	probably damaging	Het
Csmd1	G	A	8: 17,216,733	T59I	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Cyp2j8	A	T	4: 96,507,201	D62E	probably benign	Het
Dcbld1	A	T	10: 52,319,979	M428L	probably benign	Het
Dhx32	A	T	7: 133,722,247	Y523*	probably null	Het
Dlgap2	C	T	8: 14,778,206	A538V	possibly damaging	Het
Dlgap3	T	C	4: 127,236,189	S919P	probably benign	Het
Dmd	G	C	X: 84,312,483	A2257P	probably benign	Het
Dsc1	A	T	18: 20,110,152	H81Q	probably benign	Het
Dusp8	A	T	7: 142,082,561	S431T	possibly damaging	Het
Dync1i1	A	T	6: 5,767,096	T59S	probably damaging	Het
Ecel1	A	G	1: 87,148,275	S727P	probably damaging	Het
Ednrb	T	A	14: 103,821,768	D274V	probably benign	Het
Eef1d	G	T	15: 75,903,213	A199E	probably benign	Het
Eml3	T	A	19: 8,934,354		probably null	Het
Enah	G	T	1: 181,921,753	A138E	probably damaging	Het
Fgf18	A	C	11: 33,118,003	F129C	probably damaging	Het
Gba	A	T	3: 89,205,561	E170V	probably benign	Het
Hdac1	C	T	4: 129,522,364	R212Q	probably benign	Het
Heatr1	T	A	13: 12,432,646	L1740Q	probably null	Het
Inhbb	T	A	1: 119,420,701	H129L	probably benign	Het
Inpp5b	T	A	4: 124,797,869	H862Q	probably benign	Het
Itsn2	C	A	12: 4,707,025	R1372S	probably benign	Het
Jaml	T	A	9: 45,101,064	I283N	probably damaging	Het
Klk1b21	A	T	7: 44,105,769	T163S	probably benign	Het
Lmo3	A	T	6: 138,416,494	C43S	probably damaging	Het
Metrn	C	T	17: 25,795,223	V210I	probably benign	Het
Ndufaf7	A	T	17: 78,945,013	I284F	possibly damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr713	A	G	7: 107,036,731	D192G	probably damaging	Het
Osbpl7	T	C	11: 97,056,079	S403P	probably benign	Het
Pabpc4l	T	C	3: 46,446,841	T123A	probably benign	Het
Pde6d	A	G	1: 86,545,802	F91L	probably benign	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Psmd1	T	A	1: 86,078,700	S263T	possibly damaging	Het
Pum1	C	A	4: 130,669,270	T112K	possibly damaging	Het
Rasgrp2	T	A	19: 6,404,395	M156K	probably benign	Het
Reln	T	A	5: 22,019,000	E917V	probably damaging	Het
Rfc4	A	T	16: 23,124,564	V61E	probably damaging	Het
Rnf112	C	T	11: 61,451,028	V317I	possibly damaging	Het
Rpe	T	C	1: 66,715,228	M153T	probably damaging	Het
Rtn4ip1	A	G	10: 43,935,997		probably null	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Scamp5	C	A	9: 57,447,225	V49F	possibly damaging	Het
Serhl	A	G	15: 83,115,575	Q252R	probably benign	Het
Sestd1	T	C	2: 77,212,523	D229G	probably benign	Het
Slc35g1	T	C	19: 38,403,287	V339A	probably benign	Het
Slc9b2	T	A	3: 135,328,982		probably null	Het
Stk40	C	T	4: 126,128,847	T138I	probably benign	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tep1	T	G	14: 50,838,986	K1664Q	probably benign	Het
Tmod2	T	C	9: 75,586,095	K193E	possibly damaging	Het
Trak1	T	A	9: 121,472,997	*940R	probably null	Het
Ttc5	A	T	14: 50,775,365	Y189N	probably damaging	Het
Uox	A	G	3: 146,612,542	H66R	probably benign	Het
Usp9y	A	T	Y: 1,303,451	D2487E	probably benign	Het
Vnn3	G	A	10: 23,864,413	G205R	probably damaging	Het
Vps11	T	C	9: 44,348,997	D856G	probably benign	Het
Zdhhc17	T	C	10: 110,982,048	N90D	possibly damaging	Het
Zfp105	T	A	9: 122,929,678	L138*	probably null	Het
Zfp28	A	G	7: 6,394,876	Y770C	probably benign	Het
Zfp655	T	A	5: 145,244,784	L484Q	probably damaging	Het
Zfp868	C	A	8: 69,611,995	E230*	probably null	Het
Zfpm2	A	G	15: 41,103,023	Y836C	probably 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
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
R6268:Ugt2a3	UTSW	5	87329613	missense	probably damaging	1.00
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'- CAAAAGGACTTCATTTTGCCTCTC -3'
(R):5'- CTACGGGATGCACAATATGATG -3'

Sequencing Primer
(F):5'- ACTTTCACATGTAGAGTTTTACACG -3'
(R):5'- TACGGGATGCACAATATGATGTAGTG -3'

Posted On

2014-09-18