Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01090:Ugt2b34'

51083

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt2b34

Ensembl Gene

ENSMUSG00000029260

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B34

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

IGL01090

Quality Score

Status

Chromosome

Chromosomal Location

87037626-87054796 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87041679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 338 (V338F)

Ref Sequence

ENSEMBL: ENSMUSP00000108959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031181] [ENSMUST00000113333]

AlphaFold

Q8K154

Predicted Effect

probably damaging
Transcript: ENSMUST00000031181
AA Change: V338F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: V338F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	529	2.4e-253	PFAM
Pfam:Glyco_tran_28_C	331	456	3.2e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113333
AA Change: V338F

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

SMART Domains

Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: V338F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:UDPGT	26	440	5.7e-190	PFAM
Pfam:Glyco_tran_28_C	344	440	1.1e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,896,099 (GRCm39)	S316P	possibly damaging	Het
Actn1	A	T	12: 80,245,846 (GRCm39)		probably null	Het
Agbl3	T	C	6: 34,776,822 (GRCm39)	Y443H	probably benign	Het
Akap13	T	A	7: 75,316,279 (GRCm39)	D578E	probably benign	Het
Aldoa	A	T	7: 126,395,207 (GRCm39)	H292Q	probably benign	Het
Als2	T	C	1: 59,254,775 (GRCm39)	K194R	possibly damaging	Het
Bivm	C	A	1: 44,168,451 (GRCm39)	H244N	probably damaging	Het
Cabp5	G	A	7: 13,139,412 (GRCm39)	E146K	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cfap251	A	C	5: 123,418,052 (GRCm39)		probably benign	Het
Clcn4	A	G	7: 7,297,035 (GRCm39)	V129A	probably benign	Het
Clec4g	A	G	8: 3,769,482 (GRCm39)	S54P	probably damaging	Het
Crim1	G	T	17: 78,654,658 (GRCm39)	V645L	probably damaging	Het
Csta1	T	C	16: 35,945,421 (GRCm39)	T31A	probably damaging	Het
D930048N14Rik	T	C	11: 51,544,610 (GRCm39)		probably benign	Het
Dhx34	G	T	7: 15,950,181 (GRCm39)	P329Q	probably damaging	Het
Dusp16	T	C	6: 134,702,912 (GRCm39)	N193S	probably benign	Het
Fbn1	A	G	2: 125,236,696 (GRCm39)		probably benign	Het
Fbxo46	A	G	7: 18,870,728 (GRCm39)	Y449C	probably damaging	Het
Fmo4	C	A	1: 162,637,354 (GRCm39)		probably null	Het
Foxi3	C	A	6: 70,937,729 (GRCm39)	N320K	probably damaging	Het
Gm9964	A	G	11: 79,187,210 (GRCm39)	L79P	unknown	Het
Gpr161	T	C	1: 165,134,149 (GRCm39)	I137T	probably damaging	Het
Herc1	C	T	9: 66,376,457 (GRCm39)	Q3426*	probably null	Het
Hps5	C	T	7: 46,437,751 (GRCm39)	R108H	probably benign	Het
Itch	T	A	2: 155,048,256 (GRCm39)	V540E	probably damaging	Het
L3mbtl1	C	A	2: 162,807,925 (GRCm39)	P520H	probably damaging	Het
Mvp	A	G	7: 126,588,859 (GRCm39)	V636A	probably benign	Het
Odf4	A	G	11: 68,812,778 (GRCm39)		probably benign	Het
Or7g18	A	G	9: 18,787,538 (GRCm39)	K305R	probably benign	Het
Pld1	T	C	3: 28,142,816 (GRCm39)	S675P	probably benign	Het
Plod3	A	G	5: 137,019,090 (GRCm39)	D325G	probably benign	Het
Prss12	T	C	3: 123,276,388 (GRCm39)	V339A	possibly damaging	Het
Ptpn13	T	A	5: 103,689,180 (GRCm39)	L991Q	probably null	Het
Ptpn3	T	A	4: 57,240,833 (GRCm39)	I261F	probably damaging	Het
Rab3gap1	T	C	1: 127,858,124 (GRCm39)		probably benign	Het
Rasa4	A	G	5: 136,130,847 (GRCm39)	R373G	possibly damaging	Het
Rmi1	T	C	13: 58,557,208 (GRCm39)	S486P	probably damaging	Het
Slc25a23	A	G	17: 57,354,233 (GRCm39)	I139T	probably benign	Het
Sspo	T	A	6: 48,467,059 (GRCm39)	S4017T	probably benign	Het
Tcaf1	C	A	6: 42,663,556 (GRCm39)	C108F	probably benign	Het
Tnc	T	C	4: 63,918,317 (GRCm39)	Q1198R	probably damaging	Het
Tnni3k	G	T	3: 154,645,320 (GRCm39)	Q522K	possibly damaging	Het
Trio	T	A	15: 27,773,093 (GRCm39)	E713V	probably damaging	Het
Usp40	T	A	1: 87,890,187 (GRCm39)	M892L	probably benign	Het
Usp54	A	T	14: 20,636,225 (GRCm39)		probably benign	Het
Vmn2r53	T	C	7: 12,334,835 (GRCm39)	E275G	possibly damaging	Het
Vmn2r87	A	G	10: 130,333,247 (GRCm39)	M1T	probably null	Het
Wdr83os	A	T	8: 85,808,476 (GRCm39)	D76V	probably damaging	Het

Other mutations in Ugt2b34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00488:Ugt2b34	APN	5	87,040,818 (GRCm39)	missense	probably damaging	1.00
IGL00498:Ugt2b34	APN	5	87,049,084 (GRCm39)	missense	probably damaging	1.00
IGL00710:Ugt2b34	APN	5	87,054,448 (GRCm39)	missense	probably damaging	1.00
IGL01089:Ugt2b34	APN	5	87,054,185 (GRCm39)	missense	probably benign	0.02
IGL01152:Ugt2b34	APN	5	87,049,062 (GRCm39)	missense	probably damaging	0.99
IGL01343:Ugt2b34	APN	5	87,052,247 (GRCm39)	missense	possibly damaging	0.93
IGL01410:Ugt2b34	APN	5	87,040,689 (GRCm39)	missense	possibly damaging	0.77
IGL01419:Ugt2b34	APN	5	87,039,264 (GRCm39)	missense	probably damaging	1.00
IGL01986:Ugt2b34	APN	5	87,049,111 (GRCm39)	missense	probably benign	0.01
IGL02702:Ugt2b34	APN	5	87,040,750 (GRCm39)	missense	probably benign	0.21
IGL02725:Ugt2b34	APN	5	87,054,284 (GRCm39)	missense	probably benign
IGL02810:Ugt2b34	APN	5	87,054,383 (GRCm39)	missense	probably benign	0.01
IGL03199:Ugt2b34	APN	5	87,054,739 (GRCm39)	missense	unknown
IGL03335:Ugt2b34	APN	5	87,054,499 (GRCm39)	missense	probably benign	0.29
IGL03355:Ugt2b34	APN	5	87,054,544 (GRCm39)	missense	probably benign	0.01
R0624:Ugt2b34	UTSW	5	87,041,591 (GRCm39)	critical splice donor site	probably null
R0707:Ugt2b34	UTSW	5	87,040,758 (GRCm39)	missense	possibly damaging	0.60
R0825:Ugt2b34	UTSW	5	87,054,560 (GRCm39)	missense	possibly damaging	0.64
R1029:Ugt2b34	UTSW	5	87,052,246 (GRCm39)	nonsense	probably null
R1857:Ugt2b34	UTSW	5	87,052,241 (GRCm39)	missense	possibly damaging	0.90
R1982:Ugt2b34	UTSW	5	87,054,172 (GRCm39)	missense	probably damaging	1.00
R2032:Ugt2b34	UTSW	5	87,039,131 (GRCm39)	missense	probably damaging	1.00
R2133:Ugt2b34	UTSW	5	87,054,416 (GRCm39)	missense	probably benign	0.39
R4439:Ugt2b34	UTSW	5	87,040,726 (GRCm39)	missense	probably damaging	1.00
R4783:Ugt2b34	UTSW	5	87,039,332 (GRCm39)	missense	probably damaging	1.00
R5046:Ugt2b34	UTSW	5	87,052,246 (GRCm39)	missense	probably benign	0.00
R5304:Ugt2b34	UTSW	5	87,040,724 (GRCm39)	missense	probably damaging	1.00
R5543:Ugt2b34	UTSW	5	87,054,560 (GRCm39)	missense	probably damaging	0.99
R6235:Ugt2b34	UTSW	5	87,054,223 (GRCm39)	missense	probably benign	0.09
R6841:Ugt2b34	UTSW	5	87,040,675 (GRCm39)	missense	probably benign	0.01
R7459:Ugt2b34	UTSW	5	87,049,134 (GRCm39)	missense	possibly damaging	0.56
R7624:Ugt2b34	UTSW	5	87,039,141 (GRCm39)	missense	possibly damaging	0.95
R8316:Ugt2b34	UTSW	5	87,039,249 (GRCm39)	missense	probably damaging	1.00
R8939:Ugt2b34	UTSW	5	87,039,158 (GRCm39)	missense	probably damaging	1.00
R9602:Ugt2b34	UTSW	5	87,054,163 (GRCm39)	missense	probably damaging	1.00
V8831:Ugt2b34	UTSW	5	87,054,533 (GRCm39)	missense	probably benign	0.39
Z1177:Ugt2b34	UTSW	5	87,054,578 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-06-21