Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00912:Ugt3a1'

29045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt3a1

Ensembl Gene

ENSMUSG00000072664

Gene Name

UDP glycosyltransferases 3 family, polypeptide A1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL00912

Quality Score

Status

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9310612 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 327 (V327M)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably damaging
Transcript: ENSMUST00000022861
AA Change: V327M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: V327M

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,552,307	M957I	probably benign	Het
Cep83	C	T	10: 94,737,866	R206*	probably null	Het
H3f3b	A	T	11: 116,023,444	I125N	probably damaging	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Jag1	G	A	2: 137,115,573	T73M	probably damaging	Het
Mrps35	T	A	6: 147,055,921	I148N	possibly damaging	Het
Nostrin	G	A	2: 69,182,819		probably benign	Het
Rer1	A	G	4: 155,082,665		probably null	Het
Scaper	A	G	9: 55,685,955	L466S	probably damaging	Het
Tmem87a	T	C	2: 120,403,936	D42G	possibly damaging	Het
Ttn	G	T	2: 76,738,832	T27239K	probably damaging	Het
Vmn2r100	A	G	17: 19,531,392	T566A	possibly damaging	Het

Other mutations in Ugt3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17