Mutagenetix > Incidental Mutation

Incidental Mutation 'R1395:Ugt3a1'

162832

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

MMRRC Submission

039457-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R1395 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 9306292 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 176 (L176V)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022861]

AlphaFold

Q3UP75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022861
AA Change: L176V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: L176V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:UDPGT	23	521	1.4e-98	PFAM
Pfam:Glyco_tran_28_C	300	451	3.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175695

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176173

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,101,496	Y122H	probably damaging	Het
4932431P20Rik	T	A	7: 29,531,387		noncoding transcript	Het
A330070K13Rik	A	G	5: 130,379,141		probably benign	Het
Abcc2	A	G	19: 43,833,940	R1406G	probably benign	Het
Adgrv1	G	T	13: 81,386,788	T5786K	probably benign	Het
Ankrd27	T	C	7: 35,615,869	F481S	possibly damaging	Het
Arhgap11a	C	T	2: 113,833,122	V939I	probably benign	Het
Arhgap12	T	C	18: 6,037,058	N561S	probably benign	Het
Arhgef12	T	C	9: 43,005,870	H391R	probably damaging	Het
Asb3	T	C	11: 31,101,032		probably benign	Het
C2cd5	T	C	6: 143,061,738		probably benign	Het
Ccdc85a	T	C	11: 28,583,412	K44R	possibly damaging	Het
Cep128	C	T	12: 91,266,980	R438Q	probably benign	Het
Cep192	A	G	18: 67,858,921	T1957A	probably damaging	Het
Col20a1	T	A	2: 180,998,607	V519E	probably damaging	Het
Cylc2	A	G	4: 51,228,366	K146E	possibly damaging	Het
Dst	T	C	1: 34,165,155		probably null	Het
Eef1a1	C	T	9: 78,479,018	V402I	probably benign	Het
Esyt3	T	C	9: 99,316,782		probably benign	Het
Extl3	A	G	14: 65,077,496	V79A	possibly damaging	Het
Fat3	C	T	9: 16,246,916	V1133I	probably benign	Het
Fcgbp	A	G	7: 28,093,379	H936R	probably damaging	Het
Fdxacb1	TAGAC	T	9: 50,772,496		probably null	Het
Fryl	T	C	5: 73,072,912	H1634R	probably damaging	Het
Gm44511	G	A	6: 128,820,330	S32L	possibly damaging	Het
Gm597	T	C	1: 28,776,809	E714G	possibly damaging	Het
Gm8374	G	T	14: 7,364,174	N55K	probably benign	Het
Gria1	T	A	11: 57,283,566	I558N	probably damaging	Het
Gse1	G	T	8: 120,574,999		probably benign	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hectd4	T	C	5: 121,328,513		probably null	Het
Herc1	T	C	9: 66,439,181	I1943T	probably benign	Het
Ift172	T	C	5: 31,285,238		probably benign	Het
Ift81	G	T	5: 122,568,923	D485E	probably benign	Het
Lactb	T	C	9: 66,971,379		probably benign	Het
Map1a	C	T	2: 121,303,925	H1741Y	probably benign	Het
Map1lc3b	T	C	8: 121,596,720	Y110H	probably benign	Het
Mlh1	T	C	9: 111,247,377	D304G	probably damaging	Het
Myo1f	A	G	17: 33,583,740	D386G	probably damaging	Het
Ncoa4	T	A	14: 32,172,841		probably null	Het
Neto1	T	C	18: 86,398,019		probably benign	Het
Nf1	T	C	11: 79,535,983	V1741A	possibly damaging	Het
Nkain2	C	A	10: 32,890,189		probably benign	Het
Obsl1	T	C	1: 75,492,665	S109G	probably damaging	Het
Olfr12	T	A	1: 92,620,545	I213N	probably benign	Het
Olfr1347	T	A	7: 6,488,362	T171S	probably damaging	Het
Olfr564	G	A	7: 102,804,207	C243Y	possibly damaging	Het
Olfr615	T	C	7: 103,561,119	L214P	possibly damaging	Het
Phlpp1	T	C	1: 106,350,618	V920A	possibly damaging	Het
Prrxl1	C	T	14: 32,608,369	P148S	probably benign	Het
Psen1	G	A	12: 83,724,572	G209R	probably damaging	Het
Ralgapa2	T	G	2: 146,388,500	K963N	probably damaging	Het
Rdh12	A	G	12: 79,209,065	T9A	probably benign	Het
Rgma	G	T	7: 73,417,794	A360S	probably benign	Het
Sag	G	A	1: 87,828,441	V257I	probably benign	Het
Scaf1	T	C	7: 45,008,297	E386G	probably damaging	Het
Slc4a10	A	G	2: 62,313,286	E1055G	probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Spata46	A	G	1: 170,312,004	T191A	probably benign	Het
Tgm2	T	A	2: 158,124,252	H494L	probably benign	Het
Tub	C	T	7: 109,020,954	R102*	probably null	Het
Vmn2r15	T	A	5: 109,294,148	I140L	probably benign	Het
Wdr44	T	G	X: 23,796,059	C645G	probably damaging	Het
Zfp322a	C	T	13: 23,356,775	V266I	probably benign	Het
Zfp663	T	C	2: 165,352,572	R576G	probably damaging	Het

Other mutations in Ugt3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00912:Ugt3a1	APN	15	9310612	missense	probably damaging	1.00
IGL01752:Ugt3a1	APN	15	9306146	missense	probably damaging	1.00
IGL02438:Ugt3a1	APN	15	9291976	missense	possibly damaging	0.90
PIT4354001:Ugt3a1	UTSW	15	9306360	nonsense	probably null
R0127:Ugt3a1	UTSW	15	9306256	missense	probably benign	0.01
R0647:Ugt3a1	UTSW	15	9310549	missense	probably benign	0.00
R0841:Ugt3a1	UTSW	15	9306128	missense	probably benign	0.07
R1616:Ugt3a1	UTSW	15	9306244	nonsense	probably null
R2338:Ugt3a1	UTSW	15	9291973	splice site	probably benign
R3797:Ugt3a1	UTSW	15	9310641	nonsense	probably null
R4305:Ugt3a1	UTSW	15	9306274	missense	possibly damaging	0.92
R4385:Ugt3a1	UTSW	15	9306479	missense	probably benign	0.15
R4572:Ugt3a1	UTSW	15	9306393	missense	probably benign	0.00
R4611:Ugt3a1	UTSW	15	9306400	nonsense	probably null
R4744:Ugt3a1	UTSW	15	9310553	missense	probably benign	0.36
R5715:Ugt3a1	UTSW	15	9306344	missense	probably damaging	0.96
R6036:Ugt3a1	UTSW	15	9306086	missense	probably benign	0.01
R6036:Ugt3a1	UTSW	15	9306086	missense	probably benign	0.01
R6156:Ugt3a1	UTSW	15	9310676	missense	possibly damaging	0.83
R6228:Ugt3a1	UTSW	15	9310640	missense	possibly damaging	0.81
R6344:Ugt3a1	UTSW	15	9306231	missense	probably damaging	0.98
R6380:Ugt3a1	UTSW	15	9306455	missense	probably benign	0.00
R6383:Ugt3a1	UTSW	15	9306455	missense	probably benign	0.00
R6737:Ugt3a1	UTSW	15	9311809	missense	probably benign	0.30
R6848:Ugt3a1	UTSW	15	9280052	splice site	probably null
R6937:Ugt3a1	UTSW	15	9292072	missense	probably benign	0.00
R7061:Ugt3a1	UTSW	15	9306154	missense	probably benign	0.12
R7672:Ugt3a1	UTSW	15	9310693	nonsense	probably null
R7840:Ugt3a1	UTSW	15	9311817	missense	probably damaging	1.00
R7945:Ugt3a1	UTSW	15	9284175	critical splice donor site	probably null
R8105:Ugt3a1	UTSW	15	9306390	missense	probably benign	0.00
R8414:Ugt3a1	UTSW	15	9310583	missense	possibly damaging	0.82
R8981:Ugt3a1	UTSW	15	9311928	missense	probably benign	0.20
R9111:Ugt3a1	UTSW	15	9306247	missense	possibly damaging	0.69
R9451:Ugt3a1	UTSW	15	9292072	missense	probably benign	0.00
R9567:Ugt3a1	UTSW	15	9306284	missense	possibly damaging	0.82
R9657:Ugt3a1	UTSW	15	9280047	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAATACTTTGCGGACTTATGCAGTCAC -3'
(R):5'- TGACAAACCACAGCTCAGCTTTCAG -3'

Sequencing Primer
(F):5'- CGGACTTATGCAGTCACTTATTAAGC -3'
(R):5'- CTCAGCTTTCAGTAGAAGGTCAGAC -3'

Posted On

2014-03-17