Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01752:Ugt3a1'

153396

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: 0.087) question?

Stock #

IGL01752

Quality Score

Status

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9306146 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 127 (K127M)

Ref Sequence

ENSEMBL: ENSMUSP00000022861 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably damaging
Transcript: ENSMUST00000022861
AA Change: K127M

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

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: K127M

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,509,878		probably null	Het
Btbd11	C	A	10: 85,654,502	Q1011K	probably damaging	Het
Cdh4	A	T	2: 179,890,884	N713I	probably damaging	Het
Cdkl4	T	A	17: 80,543,614		probably benign	Het
Ddx21	A	G	10: 62,587,507	S639P	probably damaging	Het
Dock3	T	C	9: 107,025,313		probably benign	Het
Fan1	G	A	7: 64,372,794	T237M	probably benign	Het
Fbn2	T	A	18: 58,075,977		probably null	Het
Fhad1	T	C	4: 141,972,899	K347E	possibly damaging	Het
Gucy2c	C	A	6: 136,770,108	A118S	probably benign	Het
Itgb4	G	A	11: 115,988,926	V635I	probably damaging	Het
Lox	A	G	18: 52,520,854	V390A	possibly damaging	Het
Lyn	A	T	4: 3,743,286	M69L	probably benign	Het
Mrgprb5	A	G	7: 48,168,667	F107L	probably benign	Het
Neurod2	T	C	11: 98,327,375	E321G	possibly damaging	Het
Olfr912	C	T	9: 38,581,513	P79S	probably damaging	Het
Pcnx3	T	A	19: 5,665,337	K1962*	probably null	Het
Pde3a	T	C	6: 141,487,613		probably benign	Het
Phf10	A	G	17: 14,954,950		probably benign	Het
Prune2	A	G	19: 17,123,903	E2257G	possibly damaging	Het
Rock1	A	G	18: 10,079,113		probably null	Het
Slc4a11	T	G	2: 130,688,145	T238P	probably damaging	Het
Ssu2	T	A	6: 112,375,592	K279N	probably damaging	Het
Tead3	A	T	17: 28,333,594	I275N	probably damaging	Het
Ttn	T	C	2: 76,744,793	E25252G	probably damaging	Het
Twsg1	T	C	17: 65,929,784	T84A	probably benign	Het
Unc13c	A	T	9: 73,931,811	M586K	probably benign	Het
Vmn1r195	G	T	13: 22,279,251	C297F	probably benign	Het
Vps13c	T	A	9: 67,948,228	I2525N	probably damaging	Het
Zdhhc2	G	A	8: 40,473,001	A346T	probably benign	Het
Zfp52	T	G	17: 21,560,150	C87G	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
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

2014-02-04