Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01343:Ugt2b34'

74960

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 #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

87037626-87054796 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87052247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 250 (S250P)

Ref Sequence

ENSEMBL: ENSMUSP00000031181 (fasta)

Gene Model

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

AlphaFold

Q8K154

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031181
AA Change: S250P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: S250P

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

possibly damaging
Transcript: ENSMUST00000113333
AA Change: S250P

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: S250P

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	T	15: 91,033,416 (GRCm39)		probably benign	Het
Adgrf1	T	A	17: 43,624,086 (GRCm39)	F835L	probably null	Het
Akp3	G	T	1: 87,054,858 (GRCm39)		probably benign	Het
BC106179	G	T	16: 23,043,037 (GRCm39)		probably benign	Het
Bysl	C	A	17: 47,912,814 (GRCm39)	M325I	probably benign	Het
Cip2a	A	G	16: 48,833,551 (GRCm39)	I551V	probably damaging	Het
Crnn	A	G	3: 93,055,633 (GRCm39)	R140G	probably benign	Het
Cts8	T	C	13: 61,397,010 (GRCm39)		probably benign	Het
Cxcr4	T	C	1: 128,517,292 (GRCm39)	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,812,150 (GRCm39)	T691A	probably benign	Het
Dhx30	A	T	9: 109,915,313 (GRCm39)	F782I	probably benign	Het
Efcab5	C	T	11: 77,020,756 (GRCm39)	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,252,570 (GRCm39)	V381I	probably benign	Het
Enpp3	A	T	10: 24,681,820 (GRCm39)	Y295*	probably null	Het
Fbxo28	T	C	1: 182,144,577 (GRCm39)	E329G	probably damaging	Het
Fcgbpl1	A	G	7: 27,850,127 (GRCm39)	Q1191R	probably benign	Het
Fmnl2	T	A	2: 53,013,557 (GRCm39)	V972D	probably damaging	Het
Fmr1	A	G	X: 67,731,901 (GRCm39)	D22G	probably damaging	Het
Fsip2	A	G	2: 82,830,163 (GRCm39)	T6886A	possibly damaging	Het
Gadl1	A	G	9: 115,903,180 (GRCm39)	*503W	probably null	Het
Gpc6	A	T	14: 117,424,224 (GRCm39)	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,866,135 (GRCm39)	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,922,586 (GRCm39)	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,765,806 (GRCm39)	N412K	probably damaging	Het
Marco	C	T	1: 120,422,469 (GRCm39)		probably null	Het
Mdga2	T	C	12: 66,769,883 (GRCm39)	T206A	probably damaging	Het
Mogat2	C	A	7: 98,881,775 (GRCm39)	A54S	possibly damaging	Het
Myh15	T	A	16: 48,976,040 (GRCm39)	D1369E	probably benign	Het
Nckap1	A	T	2: 80,350,186 (GRCm39)	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,216,312 (GRCm39)		probably null	Het
Nfrkb	C	A	9: 31,300,250 (GRCm39)	L14I	probably damaging	Het
Notch1	C	A	2: 26,362,917 (GRCm39)	A950S	probably benign	Het
Notch3	T	C	17: 32,362,410 (GRCm39)	E1405G	probably benign	Het
Nsd2	C	A	5: 34,000,922 (GRCm39)	D146E	probably damaging	Het
Oc90	T	C	15: 65,761,440 (GRCm39)	T193A	probably benign	Het
Or7c70	A	T	10: 78,683,431 (GRCm39)	V106E	probably damaging	Het
Or8g50	C	A	9: 39,649,011 (GRCm39)	A300D	probably damaging	Het
Or8k40	T	A	2: 86,584,843 (GRCm39)	K80*	probably null	Het
Orc2	A	T	1: 58,532,014 (GRCm39)		probably null	Het
Pacsin2	T	C	15: 83,270,887 (GRCm39)	H254R	probably damaging	Het
Pif1	T	A	9: 65,496,844 (GRCm39)	M319K	probably damaging	Het
Prag1	G	A	8: 36,570,200 (GRCm39)	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,474,700 (GRCm39)	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,490,399 (GRCm39)	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 64,380,349 (GRCm39)	Q828*	probably null	Het
Skint6	A	G	4: 113,140,823 (GRCm39)	V6A	probably benign	Het
Slc16a13	A	G	11: 70,111,340 (GRCm39)	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,644,516 (GRCm39)	W490R	probably damaging	Het
Speer4b	G	T	5: 27,702,881 (GRCm39)	H208N	probably benign	Het
Tas2r124	T	C	6: 132,732,378 (GRCm39)	L229S	probably damaging	Het
Tlr4	T	C	4: 66,752,124 (GRCm39)		probably benign	Het
Tmed1	G	T	9: 21,421,369 (GRCm39)	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,445,779 (GRCm39)		probably benign	Het
Zfp516	A	G	18: 83,011,221 (GRCm39)	T1085A	probably damaging	Het
Znfx1	T	C	2: 166,879,283 (GRCm39)	I1698V	probably benign	Het
Zswim8	G	T	14: 20,763,409 (GRCm39)	W385C	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
IGL01090:Ugt2b34	APN	5	87,041,679 (GRCm39)	missense	probably damaging	1.00
IGL01152:Ugt2b34	APN	5	87,049,062 (GRCm39)	missense	probably damaging	0.99
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

2013-10-07