Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01627:Ugt3a2'

92791

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt3a2

Ensembl Gene

ENSMUSG00000049152

Gene Name

UDP glycosyltransferases 3 family, polypeptide A2

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL01627

Quality Score

Status

Chromosome

Chromosomal Location

9335550-9370955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9335720 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 9 (L9P)

Ref Sequence

ENSEMBL: ENSMUSP00000072236 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072403]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072403
AA Change: L9P

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

SMART Domains

Protein: ENSMUSP00000072236
Gene: ENSMUSG00000049152
AA Change: L9P

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:UDPGT	23	521	1.1e-99	PFAM
Pfam:Glyco_tran_28_C	307	450	1.5e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144755

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,347,811	I23F	probably damaging	Het
Adgra2	G	A	8: 27,118,733	A540T	possibly damaging	Het
Casp9	T	C	4: 141,805,542		probably benign	Het
Ccdc186	G	A	19: 56,792,020	T864I	probably damaging	Het
Chek1	T	A	9: 36,723,895	H64L	probably damaging	Het
Chsy3	T	C	18: 59,176,295	S207P	probably damaging	Het
Clec4n	A	G	6: 123,244,474		probably benign	Het
Col9a1	G	A	1: 24,179,608		probably null	Het
Dgkd	A	G	1: 87,880,428	R73G	probably damaging	Het
Dmbt1	A	T	7: 131,081,185	T562S	probably benign	Het
Epb42	T	C	2: 121,025,843	T407A	probably benign	Het
Eps8l3	A	G	3: 107,881,171	D58G	probably damaging	Het
Fuca1	A	T	4: 135,925,551	N162I	possibly damaging	Het
Gramd1a	T	C	7: 31,139,796	D229G	probably damaging	Het
Grin1	A	G	2: 25,318,697	S64P	probably damaging	Het
Hgd	T	G	16: 37,621,925	V243G	probably damaging	Het
Il23r	A	T	6: 67,423,428	N639K	probably benign	Het
Il33	A	G	19: 29,951,990	T38A	possibly damaging	Het
Mb21d1	A	T	9: 78,442,714	V57E	possibly damaging	Het
Mycbpap	T	C	11: 94,514,604	E33G	probably damaging	Het
Npas1	C	T	7: 16,465,186	G148D	probably damaging	Het
Ntan1	C	T	16: 13,834,739	T233M	probably benign	Het
Olfr774	A	T	10: 129,238,269	N40I	probably damaging	Het
Pou2f1	A	T	1: 165,880,433		probably benign	Het
Rims4	T	C	2: 163,864,102	Y204C	probably damaging	Het
Selp	A	G	1: 164,143,892		probably null	Het
Senp7	A	G	16: 56,171,856	E725G	probably damaging	Het
Snx31	A	T	15: 36,517,672	F366Y	probably damaging	Het
Spats2l	A	G	1: 57,902,082		probably benign	Het
Tssk4	T	C	14: 55,650,553	F69L	probably damaging	Het
Vmn2r76	A	T	7: 86,225,663	I702N	probably damaging	Het
Vps18	C	A	2: 119,297,191	R832S	probably benign	Het
Xpo6	A	G	7: 126,149,334	L375P	probably damaging	Het
Zfp462	C	A	4: 55,008,912	P293T	possibly damaging	Het
Zyg11b	T	C	4: 108,250,788	I474V	probably benign	Het

Other mutations in Ugt3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Ugt3a2	APN	15	9367268	missense	probably damaging	0.99
IGL01131:Ugt3a2	APN	15	9365162	missense	probably damaging	1.00
IGL01746:Ugt3a2	APN	15	9361668	missense	probably damaging	1.00
IGL01949:Ugt3a2	APN	15	9335729	missense	probably damaging	1.00
IGL02213:Ugt3a2	APN	15	9370224	missense	probably benign	0.00
IGL02407:Ugt3a2	APN	15	9365230	nonsense	probably null
IGL02588:Ugt3a2	APN	15	9361456	missense	probably benign
IGL02894:Ugt3a2	APN	15	9367401	missense	probably damaging	1.00
IGL02966:Ugt3a2	APN	15	9370068	missense	probably damaging	1.00
IGL03385:Ugt3a2	APN	15	9338738	missense	probably damaging	0.99
IGL03493:Ugt3a2	APN	15	9361483	missense	probably damaging	0.96
R0554:Ugt3a2	UTSW	15	9351120	missense	probably benign	0.14
R0833:Ugt3a2	UTSW	15	9370150	missense	probably damaging	0.96
R1071:Ugt3a2	UTSW	15	9367368	missense	possibly damaging	0.82
R1513:Ugt3a2	UTSW	15	9361524	missense	probably benign	0.07
R1844:Ugt3a2	UTSW	15	9351168	missense	probably benign	0.07
R1874:Ugt3a2	UTSW	15	9365351	missense	probably damaging	1.00
R2305:Ugt3a2	UTSW	15	9351117	missense	probably benign
R3052:Ugt3a2	UTSW	15	9365288	missense	probably damaging	1.00
R3755:Ugt3a2	UTSW	15	9367412	missense	probably benign	0.21
R3945:Ugt3a2	UTSW	15	9370098	missense	possibly damaging	0.91
R4135:Ugt3a2	UTSW	15	9338724	missense	probably damaging	0.98
R4261:Ugt3a2	UTSW	15	9335793	splice site	probably null
R4438:Ugt3a2	UTSW	15	9351197	missense	probably benign	0.01
R4570:Ugt3a2	UTSW	15	9338721	missense	probably benign	0.12
R4791:Ugt3a2	UTSW	15	9361579	missense	probably damaging	1.00
R4957:Ugt3a2	UTSW	15	9365188	missense	probably benign	0.27
R5011:Ugt3a2	UTSW	15	9365287	missense	probably damaging	1.00
R5035:Ugt3a2	UTSW	15	9361618	missense	probably benign	0.01
R5554:Ugt3a2	UTSW	15	9370201	missense	probably damaging	1.00
R5573:Ugt3a2	UTSW	15	9361683	missense	probably damaging	1.00
R5631:Ugt3a2	UTSW	15	9361885	missense	probably damaging	0.98
R5696:Ugt3a2	UTSW	15	9361448	splice site	silent
R6265:Ugt3a2	UTSW	15	9361579	missense	probably damaging	1.00
R6302:Ugt3a2	UTSW	15	9365311	missense	probably damaging	1.00
R6311:Ugt3a2	UTSW	15	9361518	nonsense	probably null
R6680:Ugt3a2	UTSW	15	9370068	missense	probably damaging	1.00
R8229:Ugt3a2	UTSW	15	9367377	missense	probably damaging	0.99
R8296:Ugt3a2	UTSW	15	9361938	missense	probably benign	0.18
Z1177:Ugt3a2	UTSW	15	9367257	missense	probably benign	0.02

Posted On

2013-12-09