Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02438:Ugt3a1'

293355

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: 0.124) question?

Stock #

IGL02438

Quality Score

Status

Chromosome

Chromosomal Location

9276888-9315032 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9291976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 27 (D27G)

Ref Sequence

ENSEMBL: ENSMUSP00000135760 (fasta)

Gene Model

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

AlphaFold

Q3UP75

Predicted Effect

probably benign
Transcript: ENSMUST00000022861
AA Change: D65G

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

SMART Domains

Protein: ENSMUSP00000022861
Gene: ENSMUSG00000072664
AA Change: D65G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176878
AA Change: D27G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	T	C	5: 121,501,038	N648S	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dna2	A	G	10: 62,957,062	I285M	possibly damaging	Het
Fbxw8	A	G	5: 118,095,693	F291S	probably benign	Het
Gm6619	T	C	6: 131,490,435	S88P	possibly damaging	Het
Ist1	A	G	8: 109,675,370		probably benign	Het
Muc13	T	A	16: 33,807,980	S367T	possibly damaging	Het
Necab3	T	A	2: 154,546,044	D284V	probably damaging	Het
Nit2	G	A	16: 57,161,148	Q83*	probably null	Het
Ppcs	A	G	4: 119,421,692		probably benign	Het
Slc26a2	G	T	18: 61,202,217	H55N	possibly damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Trmt2b	C	A	X: 134,243,083	V219L	probably benign	Het
Vmn2r74	A	G	7: 85,952,616	F605L	probably damaging	Het
Vmn2r79	T	C	7: 87,002,536	L381P	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
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

2015-04-16