Mutagenetix > Incidental Mutation

Incidental Mutation 'R6937:Ugt3a1'

540360

Institutional Source

Beutler Lab

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6937 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9292072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 97 (D97V)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022861] [ENSMUST00000176878]

AlphaFold

Q3UP75

Predicted Effect

probably benign
Transcript: ENSMUST00000022861
AA Change: D97V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: D97V

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

probably benign
Transcript: ENSMUST00000176878

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd52	T	C	10: 128,387,020	V613A	probably benign	Het
Cdh23	A	T	10: 60,487,114	L337Q	probably damaging	Het
Chrna6	A	G	8: 27,407,027	L274P	probably damaging	Het
Ciita	G	A	16: 10,512,491		probably null	Het
Csnka2ip	A	T	16: 64,478,695		probably benign	Het
Ddx60	G	A	8: 62,037,069	D1691N	probably damaging	Het
Dnah7b	T	C	1: 46,195,120	I1441T	probably damaging	Het
Dock4	T	C	12: 40,834,635	S1713P	probably benign	Het
Ep400	T	C	5: 110,711,152		probably benign	Het
Epn1	T	C	7: 5,089,944	I85T	probably damaging	Het
Eri2	T	C	7: 119,786,789	K228E	probably damaging	Het
Garem1	C	T	18: 21,147,770	A510T	probably benign	Het
Gfm2	T	A	13: 97,163,064		probably null	Het
Gm37596	T	C	3: 93,692,216	N282S	probably benign	Het
Gm4858	A	G	3: 93,074,110	H145R	probably benign	Het
Hnrnpd	T	C	5: 99,963,770	T321A	probably benign	Het
Htr2a	A	T	14: 74,645,164	I197F	probably damaging	Het
Krtap2-4	T	A	11: 99,614,473		probably benign	Het
Lcn3	C	A	2: 25,767,811	Y179*	probably null	Het
Mak	A	T	13: 41,048,102	M261K	probably damaging	Het
March7	A	G	2: 60,240,966	T605A	probably damaging	Het
Mcm4	A	C	16: 15,636,335	F83V	probably benign	Het
Myo18b	T	C	5: 112,802,392	N1546S	probably benign	Het
Nckap1	T	A	2: 80,508,716	K989N	probably damaging	Het
Ndufaf5	A	G	2: 140,181,602	D119G	probably damaging	Het
Olfr846	A	T	9: 19,360,689	V222D	probably damaging	Het
Pcdh1	T	C	18: 38,203,475	T36A	possibly damaging	Het
Pitpna	C	T	11: 75,603,731	T100I	possibly damaging	Het
Pmf1	A	T	3: 88,399,189	L102Q	probably damaging	Het
Rftn2	T	C	1: 55,194,349		probably null	Het
Robo3	A	G	9: 37,429,880	L10P	probably benign	Het
Serpinb6a	T	C	13: 33,918,818	I241V	possibly damaging	Het
St14	A	T	9: 31,129,660		probably null	Het
Stat6	T	C	10: 127,658,702		probably null	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tgfbrap1	A	T	1: 43,051,904	V687E	probably damaging	Het
Trim30d	A	T	7: 104,483,427	S68T	probably damaging	Het
Ttn	A	G	2: 76,832,909		probably benign	Het
Ugt8a	G	A	3: 125,915,601		probably benign	Het
Vmn1r184	A	T	7: 26,267,325	K165N	probably benign	Het
Vmn2r86	T	A	10: 130,448,654	I523F	probably damaging	Het
Wapl	G	A	14: 34,722,354	V588I	probably benign	Het
Wdr7	C	T	18: 63,791,867	P974S	probably benign	Het
Zfp975	T	C	7: 42,665,056	D31G	possibly 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
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
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
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'- GGTAGCTATGTCTTTACATGAAAGG -3'
(R):5'- AGGTATGAGTCAACTACCATGC -3'

Sequencing Primer
(F):5'- TTCCACAAAGAGGAGACATTAATTG -3'
(R):5'- GTATGAGTCAACTACCATGCACAATC -3'

Posted On

2018-11-06