Mutagenetix > Incidental Mutation

Incidental Mutation 'R6156:Ugt3a1'

489613

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

MMRRC Submission

044303-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R6156 (G1)

Quality Score

157.009

Status

Validated

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9310676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 348 (I348T)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022861
AA Change: I348T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: I348T

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,817,639		probably null	Het
Ank2	T	C	3: 126,944,237	D2579G	probably damaging	Het
Atp6v1b1	G	C	6: 83,758,133	G423R	probably damaging	Het
B4galnt3	T	C	6: 120,214,840	N644S	probably benign	Het
Capsl	T	G	15: 9,465,834	M132R	probably damaging	Het
Cep120	A	G	18: 53,703,223	Y797H	probably benign	Het
Clec2e	T	A	6: 129,095,098	D106V	possibly damaging	Het
Col6a2	C	T	10: 76,604,170	V634I	possibly damaging	Het
Dis3	T	C	14: 99,098,779	E97G	probably benign	Het
Dlec1	T	C	9: 119,110,213		probably null	Het
Dock2	C	A	11: 34,247,789	V1484F	possibly damaging	Het
Ephb2	T	A	4: 136,661,505	M593L	probably benign	Het
Fcgrt	T	C	7: 45,102,060	T125A	probably benign	Het
Gabbr1	T	C	17: 37,048,427	I98T	probably benign	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gfod1	T	C	13: 43,201,038	S154G	possibly damaging	Het
Ggt5	C	T	10: 75,609,326	T389I	probably damaging	Het
Gm5096	C	A	18: 87,757,107	Y251*	probably null	Het
Got2	A	G	8: 95,872,268	F169L	probably benign	Het
Gse1	A	G	8: 120,489,127	K5E	possibly damaging	Het
Hyal5	T	C	6: 24,891,438	I417T	possibly damaging	Het
Igkv4-91	G	T	6: 68,768,623	T97K	probably damaging	Het
Il4i1	T	C	7: 44,840,184	Y458H	possibly damaging	Het
Impg1	A	T	9: 80,322,824	C740S	probably damaging	Het
Itgb1	C	G	8: 128,732,054	T788R	possibly damaging	Het
Lman2l	A	G	1: 36,438,826	V143A	probably damaging	Het
Ltbp4	G	T	7: 27,330,162	T136K	unknown	Het
Macf1	A	G	4: 123,472,280	I1331T	probably benign	Het
Mmp11	G	A	10: 75,926,491	A336V	probably damaging	Het
Myh2	A	T	11: 67,181,053	I536F	probably damaging	Het
Myh4	A	G	11: 67,250,792	M826V	probably benign	Het
Naca	T	C	10: 128,039,291		probably benign	Het
Nr4a2	A	G	2: 57,112,352	Y30H	probably damaging	Het
Olfr1200	T	A	2: 88,767,590	I242L	probably benign	Het
Olfr1290	A	T	2: 111,489,750	M136K	probably damaging	Het
Olfr1316	A	T	2: 112,130,100	L237Q	probably damaging	Het
Olfr136	T	A	17: 38,335,173	N5K	probably damaging	Het
Olfr1427	A	G	19: 12,099,120	V173A	possibly damaging	Het
Olfr395	A	T	11: 73,906,621	Y290*	probably null	Het
Olfr533	A	G	7: 140,466,845	T215A	probably benign	Het
Olfr936	T	A	9: 39,047,375	M15L	possibly damaging	Het
Paqr3	A	C	5: 97,108,269	L82R	probably damaging	Het
Pex6	C	T	17: 46,720,641	P456S	probably benign	Het
Pih1d2	A	T	9: 50,621,152	K186I	possibly damaging	Het
Plekhh3	A	G	11: 101,170,187		probably benign	Het
Ptpn23	C	A	9: 110,387,781		probably benign	Het
Rcor3	T	A	1: 192,127,842		probably benign	Het
Rgs11	T	A	17: 26,210,465	Y403*	probably null	Het
Scn10a	T	C	9: 119,635,583	N984D	probably benign	Het
Snx14	C	T	9: 88,407,339	A287T	possibly damaging	Het
Stx3	T	C	19: 11,803,510	D33G	probably damaging	Het
Tacc2	A	G	7: 130,625,764	K1393R	probably damaging	Het
Tas2r129	T	C	6: 132,951,492	S131P	probably benign	Het
Tbx15	G	T	3: 99,313,115		probably null	Het
Tex33	T	C	15: 78,378,813	T214A	probably damaging	Het
Thada	A	G	17: 84,393,367	V1237A	probably damaging	Het
Tnc	A	G	4: 63,970,352	Y1735H	probably damaging	Het
Ttc22	A	G	4: 106,638,583	K378R	probably benign	Het
Tubg2	A	G	11: 101,160,809	K287E	possibly damaging	Het
Unc79	A	G	12: 103,061,458	N436S	probably damaging	Het
Unc80	A	T	1: 66,612,250	I1585F	probably benign	Het
Vmn2r104	T	C	17: 20,041,647	Y407C	probably damaging	Het
Vmn2r108	T	A	17: 20,472,185	L136F	probably benign	Het
Vmn2r38	A	G	7: 9,094,612	S161P	probably damaging	Het
Vmn2r90	T	C	17: 17,733,344	I590T	probably benign	Het
Washc5	T	C	15: 59,345,399	E323G	probably damaging	Het
Wdhd1	C	T	14: 47,268,196	G273D	probably damaging	Het
Xpo6	G	T	7: 126,108,844	Q851K	probably damaging	Het
Zfp386	T	C	12: 116,059,906	S380P	probably damaging	Het
Zfp536	A	G	7: 37,473,856	C274R	unknown	Het
Zfp64	A	G	2: 168,926,168	I508T	probably benign	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
R1395:Ugt3a1	UTSW	15	9306292	missense	possibly damaging	0.92
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
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'- ATCTCTCAGTTTGGAGACTCAGG -3'
(R):5'- ACAGACAGTCTAGAGTGCAACC -3'

Sequencing Primer
(F):5'- CAGTTTGGAGACTCAGGTTTTGTCC -3'
(R):5'- GACAGTCTAGAGTGCAACCTGATTC -3'

Posted On

2017-10-10