Mutagenetix > Incidental Mutation

Incidental Mutation 'R7957:Ugt2a3'

649883

Institutional Source

Beutler Lab

Gene Symbol

Ugt2a3

Ensembl Gene

ENSMUSG00000035780

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide A3

Synonyms

2010321J07Rik

MMRRC Submission

046001-MU

Accession Numbers

Genbank: NM_028094; MGI: 1919344

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7957 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87324972-87337195 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87327191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 398 (D398V)

Ref Sequence

ENSEMBL: ENSMUSP00000031195 (fasta)

Gene Model

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

AlphaFold

Q8BWQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031195
AA Change: D398V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: D398V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 110,091,613	M1T	probably null	Het
Abhd2	T	A	7: 79,325,446	M128K	probably benign	Het
Adamts12	A	G	15: 11,317,212	T1333A	possibly damaging	Het
Alg8	A	G	7: 97,390,924	T438A	probably benign	Het
Cebpa	A	G	7: 35,120,442	I342V	possibly damaging	Het
Chd9	T	C	8: 91,051,698	M2779T	probably damaging	Het
Cnot3	C	A	7: 3,658,222	P577T	probably benign	Het
Col17a1	T	C	19: 47,661,117	D755G	probably damaging	Het
Col5a3	A	G	9: 20,774,051	V1443A	unknown	Het
Crygs	C	T	16: 22,805,332	R175H	probably damaging	Het
Fam193a	A	G	5: 34,462,086	D1031G	probably damaging	Het
Fam83b	T	A	9: 76,491,985	H612L	probably benign	Het
Gabrr2	A	G	4: 33,081,410	T149A	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm3667	T	C	14: 6,872,332	N156D	probably benign	Het
Hpcal1	T	A	12: 17,791,170	L183Q	probably damaging	Het
Ilf2	G	T	3: 90,487,470	E342*	probably null	Het
Ints13	A	G	6: 146,550,766	S652P	probably damaging	Het
Kansl2	C	A	15: 98,524,618	E356D	probably benign	Het
Klhl6	T	C	16: 19,949,451	E448G	probably null	Het
Mmp14	A	G	14: 54,436,250	I124V	probably benign	Het
Morc2b	A	T	17: 33,135,773	D1008E	probably benign	Het
Muc16	A	C	9: 18,643,471	V3842G	unknown	Het
Myo9b	A	T	8: 71,354,761	I1614F	probably benign	Het
Nipa1	A	T	7: 55,979,799	C189S	probably damaging	Het
Nov	G	T	15: 54,746,338	S78I	possibly damaging	Het
Ntn4	T	C	10: 93,644,473		probably benign	Het
Olfr1274-ps	A	T	2: 90,401,051	Y130F	probably damaging	Het
Olfr146	T	G	9: 39,019,053	I163L	probably benign	Het
Olfr329-ps	A	G	11: 58,542,798	L239P	probably damaging	Het
Olfr358	A	G	2: 37,004,960	I218T	probably benign	Het
Olfr399	A	C	11: 74,054,156	L201R	probably damaging	Het
Pank1	T	A	19: 34,813,696	H528L	probably damaging	Het
Pappa2	A	T	1: 158,761,561	L1698*	probably null	Het
Park7	A	G	4: 150,903,884	S85P	probably damaging	Het
Pik3r4	A	G	9: 105,687,209	D1334G	probably damaging	Het
Rapgef2	T	C	3: 79,214,969	E30G	probably benign	Het
Rhbdf1	A	G	11: 32,210,523	F676L	probably damaging	Het
Rsf1	GGC	GGCCACGGCAGC	7: 97,579,906		probably benign	Het
Scd4	G	T	19: 44,341,248	M219I	probably benign	Het
Slfn5	T	A	11: 82,956,787	I166N	probably benign	Het
Smim22	A	T	16: 5,008,225	D85V	probably damaging	Het
Socs2	T	C	10: 95,414,950	E7G	probably benign	Het
Thumpd2	T	C	17: 81,026,728	E477G	probably benign	Het
Tlr12	C	T	4: 128,616,690	G589D	probably benign	Het
Ttn	A	T	2: 76,764,855	I20317K	probably damaging	Het
Ttyh2	A	G	11: 114,708,864		probably null	Het
Vmn2r88	A	T	14: 51,413,132	M101L		Het
Vmn2r93	A	T	17: 18,325,692	R609*	probably null	Het
Zfp473	C	T	7: 44,732,492	E806K	probably damaging	Het
Zfp93	T	C	7: 24,275,574	L328P	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
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
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
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'- ATGTCCAGAACGATGGCAAG -3'
(R):5'- TTCATCAGATATCATCACCCCAGTG -3'

Sequencing Primer
(F):5'- AAGGCTGCCAGTTTTCCACG -3'
(R):5'- CCCAGTTCCCAAACTTTAGAGG -3'

Posted On

2020-09-15