Mutagenetix > Incidental Mutation

Incidental Mutation 'R2374:Ugt2a3'

248227

Institutional Source

Beutler Lab

Gene Symbol

Ugt2a3

Ensembl Gene

ENSMUSG00000035780

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide A3

Synonyms

2010321J07Rik

MMRRC Submission

040353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87472831-87485054 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87475050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 398 (D398G)

Ref Sequence

ENSEMBL: ENSMUSP00000031195 (fasta)

Gene Model

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

AlphaFold

Q8BWQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000031195
AA Change: D398G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: D398G

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

0.8815

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 92.7%

Validation Efficiency

97% (33/34)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp2	C	T	18: 80,174,202 (GRCm39)	R69Q	probably damaging	Het
Bltp1	A	G	3: 36,939,545 (GRCm39)	D133G	probably benign	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Clec4b1	T	G	6: 123,027,597 (GRCm39)	L18R	probably damaging	Het
Cntrl	G	A	2: 35,043,288 (GRCm39)	V706I	possibly damaging	Het
Dhx30	A	G	9: 109,920,632 (GRCm39)	L294P	probably damaging	Het
Dnaaf9	A	G	2: 130,662,494 (GRCm39)	Y60H	probably damaging	Het
Dysf	T	C	6: 84,074,711 (GRCm39)	L504P	probably damaging	Het
Gm10754	A	G	10: 97,518,013 (GRCm39)		probably benign	Het
Grid1	G	A	14: 35,043,764 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,291,780 (GRCm39)	N3424S	probably damaging	Het
Itgb2	G	A	10: 77,395,515 (GRCm39)	V539I	probably benign	Het
Itgb5	T	A	16: 33,740,168 (GRCm39)	V426E	probably damaging	Het
Ly6e	A	G	15: 74,830,470 (GRCm39)	S107G	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Myo15a	T	G	11: 60,369,669 (GRCm39)	S810A	possibly damaging	Het
Neb	A	G	2: 52,153,669 (GRCm39)	W2419R	probably damaging	Het
Nkpd1	A	T	7: 19,257,900 (GRCm39)	T560S	possibly damaging	Het
Or2n1c	T	C	17: 38,519,958 (GRCm39)	M274T	probably damaging	Het
Or4b1b	A	T	2: 90,112,795 (GRCm39)	S41R	possibly damaging	Het
Rasa3	A	G	8: 13,627,411 (GRCm39)	L697P	probably damaging	Het
Sptbn4	A	G	7: 27,059,517 (GRCm39)	Y2443H	probably damaging	Het
Steap2	A	G	5: 5,725,845 (GRCm39)	I393T	probably damaging	Het
Tbc1d12	T	A	19: 38,825,614 (GRCm39)	L155Q	possibly damaging	Het
Tnni3k	A	T	3: 154,492,422 (GRCm39)	M816K	probably benign	Het
Vmn1r25	A	T	6: 57,955,543 (GRCm39)	S249T	probably benign	Het
Vmn2r17	C	A	5: 109,575,104 (GRCm39)	P137Q	probably benign	Het
Zbtb26	A	G	2: 37,326,497 (GRCm39)	S180P	probably benign	Het
Zfy1	A	T	Y: 726,391 (GRCm39)	L458Q	probably damaging	Het
Zfy1	G	C	Y: 726,392 (GRCm39)	L458V	possibly damaging	Het
Zmpste24	T	C	4: 120,931,734 (GRCm39)	E297G	probably benign	Het

Other mutations in Ugt2a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Ugt2a3	APN	5	87,473,514 (GRCm39)	missense	probably damaging	0.99
IGL00542:Ugt2a3	APN	5	87,484,682 (GRCm39)	missense	possibly damaging	0.61
IGL01335:Ugt2a3	APN	5	87,484,644 (GRCm39)	missense	probably damaging	1.00
IGL01369:Ugt2a3	APN	5	87,474,979 (GRCm39)	missense	probably damaging	1.00
IGL01808:Ugt2a3	APN	5	87,473,414 (GRCm39)	missense	probably benign	0.09
IGL02380:Ugt2a3	APN	5	87,484,658 (GRCm39)	missense	probably benign	0.09
IGL03245:Ugt2a3	APN	5	87,484,439 (GRCm39)	missense	probably damaging	1.00
IGL03260:Ugt2a3	APN	5	87,484,439 (GRCm39)	missense	probably damaging	1.00
IGL03261:Ugt2a3	APN	5	87,484,439 (GRCm39)	missense	probably damaging	1.00
IGL03280:Ugt2a3	APN	5	87,484,439 (GRCm39)	missense	probably damaging	1.00
IGL03302:Ugt2a3	APN	5	87,484,439 (GRCm39)	missense	probably damaging	1.00
D4186:Ugt2a3	UTSW	5	87,329,613 (GRCm38)	missense	probably damaging	1.00
R0051:Ugt2a3	UTSW	5	87,484,865 (GRCm39)	missense	probably damaging	1.00
R0103:Ugt2a3	UTSW	5	87,484,577 (GRCm39)	missense	possibly damaging	0.89
R0103:Ugt2a3	UTSW	5	87,484,577 (GRCm39)	missense	possibly damaging	0.89
R0324:Ugt2a3	UTSW	5	87,474,932 (GRCm39)	critical splice donor site	probably null
R0401:Ugt2a3	UTSW	5	87,484,349 (GRCm39)	missense	probably benign	0.03
R0506:Ugt2a3	UTSW	5	87,484,508 (GRCm39)	missense	possibly damaging	0.78
R0903:Ugt2a3	UTSW	5	87,475,570 (GRCm39)	missense	probably benign	0.00
R0940:Ugt2a3	UTSW	5	87,475,065 (GRCm39)	missense	possibly damaging	0.95
R1121:Ugt2a3	UTSW	5	87,475,548 (GRCm39)	missense	probably damaging	0.99
R1296:Ugt2a3	UTSW	5	87,475,005 (GRCm39)	missense	probably damaging	0.96
R1527:Ugt2a3	UTSW	5	87,473,457 (GRCm39)	missense	probably damaging	1.00
R2104:Ugt2a3	UTSW	5	87,477,541 (GRCm39)	splice site	probably null
R2119:Ugt2a3	UTSW	5	87,484,430 (GRCm39)	missense	probably damaging	0.98
R3082:Ugt2a3	UTSW	5	87,473,534 (GRCm39)	missense	probably benign	0.05
R3853:Ugt2a3	UTSW	5	87,485,018 (GRCm39)	missense
R3894:Ugt2a3	UTSW	5	87,477,449 (GRCm39)	missense	probably benign	0.09
R4063:Ugt2a3	UTSW	5	87,484,725 (GRCm39)	missense	probably benign	0.04
R4274:Ugt2a3	UTSW	5	87,475,548 (GRCm39)	missense	probably damaging	0.99
R4739:Ugt2a3	UTSW	5	87,475,054 (GRCm39)	missense	probably damaging	0.97
R4879:Ugt2a3	UTSW	5	87,479,144 (GRCm39)	missense	probably benign	0.06
R5327:Ugt2a3	UTSW	5	87,479,174 (GRCm39)	missense	probably damaging	1.00
R5508:Ugt2a3	UTSW	5	87,475,059 (GRCm39)	missense	probably damaging	0.98
R5866:Ugt2a3	UTSW	5	87,484,406 (GRCm39)	missense	probably damaging	1.00
R6026:Ugt2a3	UTSW	5	87,484,336 (GRCm39)	missense	probably benign	0.00
R6268:Ugt2a3	UTSW	5	87,477,472 (GRCm39)	missense	probably damaging	1.00
R6807:Ugt2a3	UTSW	5	87,484,617 (GRCm39)	missense	probably benign	0.00
R6980:Ugt2a3	UTSW	5	87,473,491 (GRCm39)	missense	probably damaging	1.00
R7056:Ugt2a3	UTSW	5	87,484,953 (GRCm39)	missense	probably damaging	0.98
R7133:Ugt2a3	UTSW	5	87,473,393 (GRCm39)	missense	possibly damaging	0.61
R7477:Ugt2a3	UTSW	5	87,484,479 (GRCm39)	missense	possibly damaging	0.90
R7485:Ugt2a3	UTSW	5	87,475,539 (GRCm39)	critical splice donor site	probably null
R7798:Ugt2a3	UTSW	5	87,475,582 (GRCm39)	missense	probably damaging	1.00
R7957:Ugt2a3	UTSW	5	87,475,050 (GRCm39)	missense	probably damaging	1.00
R8803:Ugt2a3	UTSW	5	87,484,389 (GRCm39)	missense	probably damaging	0.98
R8886:Ugt2a3	UTSW	5	87,484,358 (GRCm39)	missense	probably damaging	1.00
R8944:Ugt2a3	UTSW	5	87,473,417 (GRCm39)	missense	possibly damaging	0.81
R9387:Ugt2a3	UTSW	5	87,484,832 (GRCm39)	missense	probably benign	0.38
R9447:Ugt2a3	UTSW	5	87,473,330 (GRCm39)	missense	probably benign	0.39
R9524:Ugt2a3	UTSW	5	87,485,018 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ATGTCCAGAACGATGGCAAG -3'
(R):5'- TCTTCATCAGATATCATCACCCCAG -3'

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

Posted On

2014-11-11