Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01586:Ugt2b35'

91793

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ugt2b35

Ensembl Gene

ENSMUSG00000035811

Gene Name

UDP glucuronosyltransferase 2 family, polypeptide B35

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL01586

Quality Score

Status

Chromosome

Chromosomal Location

87000860-87013275 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 87011391 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 481 (H481Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031186]

Predicted Effect

probably benign
Transcript: ENSMUST00000031186
AA Change: H481Q

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000031186
Gene: ENSMUSG00000035811
AA Change: H481Q

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:UDPGT	24	526	1e-253	PFAM
Pfam:Glyco_tran_28_C	338	449	1.9e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199020

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
9830107B12Rik	A	T	17: 48,128,515	Y144N	unknown	Het
Abca9	A	C	11: 110,154,417	C363W	probably damaging	Het
Acmsd	G	A	1: 127,759,710	R243H	probably damaging	Het
Adam33	T	C	2: 131,054,050	T490A	probably damaging	Het
Ank1	A	G	8: 23,120,912	D1411G	probably benign	Het
Arhgap39	T	C	15: 76,730,438	E842G	probably benign	Het
Asgr2	T	C	11: 70,105,367		probably benign	Het
Bbs9	T	C	9: 22,645,997	V14A	possibly damaging	Het
Cer1	A	G	4: 82,884,843	S81P	probably damaging	Het
Cln6	T	A	9: 62,844,618	H41Q	probably damaging	Het
Dock1	A	G	7: 134,753,377	D334G	probably damaging	Het
Dpy19l2	A	G	9: 24,666,975	I261T	probably benign	Het
Fhod3	T	G	18: 25,090,747	I1050S	probably damaging	Het
Gbgt1	T	C	2: 28,497,830	V22A	probably benign	Het
Izumo3	A	G	4: 92,146,295		probably null	Het
Kif11	T	C	19: 37,384,233		probably benign	Het
Krt2	C	A	15: 101,811,390	G615V	unknown	Het
Midn	A	G	10: 80,156,643		probably benign	Het
Mier1	C	T	4: 103,155,572	T342I	probably damaging	Het
Mycbp2	A	T	14: 103,140,869		probably null	Het
Nrp1	A	T	8: 128,432,032	S267C	possibly damaging	Het
Olfr145	A	G	9: 37,897,976	T191A	possibly damaging	Het
Pcdh20	A	T	14: 88,470,908	M28K	probably benign	Het
Prmt5	G	A	14: 54,509,951		probably benign	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Rps6ka5	T	C	12: 100,570,914	E519G	probably damaging	Het
Samm50	T	A	15: 84,195,838	I39N	probably benign	Het
Shc2	A	T	10: 79,622,304	M515K	probably damaging	Het
Sorbs2	T	A	8: 45,795,594	F608L	probably damaging	Het
Sos2	T	C	12: 69,607,398	K727E	probably damaging	Het
Sox13	A	T	1: 133,389,444	H150Q	possibly damaging	Het
Tmem132e	T	C	11: 82,434,669	V165A	probably damaging	Het
Trmt11	T	C	10: 30,597,751	T43A	probably benign	Het
Tyrp1	G	T	4: 80,844,898	V341L	probably benign	Het
Zzz3	T	A	3: 152,455,839	I290N	possibly damaging	Het

Other mutations in Ugt2b35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00703:Ugt2b35	APN	5	87008192	missense	probably benign	0.00
IGL01109:Ugt2b35	APN	5	87008306	missense	probably damaging	1.00
IGL02151:Ugt2b35	APN	5	87003282	missense	possibly damaging	0.65
IGL02225:Ugt2b35	APN	5	87007405	splice site	probably benign
IGL02483:Ugt2b35	APN	5	87001145	missense	possibly damaging	0.87
IGL02504:Ugt2b35	APN	5	87001541	missense	possibly damaging	0.50
IGL02690:Ugt2b35	APN	5	87001237	missense	probably benign	0.01
IGL02954:Ugt2b35	APN	5	87011321	missense	probably benign	0.00
IGL03242:Ugt2b35	APN	5	87007395	missense	probably damaging	1.00
R0329:Ugt2b35	UTSW	5	87003405	missense	probably null	0.38
R0513:Ugt2b35	UTSW	5	87003412	splice site	probably benign
R0571:Ugt2b35	UTSW	5	87000934	missense	possibly damaging	0.51
R0827:Ugt2b35	UTSW	5	87008130	splice site	probably benign
R1396:Ugt2b35	UTSW	5	87011530	missense	possibly damaging	0.56
R1437:Ugt2b35	UTSW	5	87001031	missense	probably benign	0.02
R1557:Ugt2b35	UTSW	5	87007297	splice site	probably null
R1869:Ugt2b35	UTSW	5	87001288	missense	probably damaging	1.00
R1937:Ugt2b35	UTSW	5	87001282	missense	probably damaging	1.00
R2067:Ugt2b35	UTSW	5	87001553	missense	probably damaging	1.00
R2219:Ugt2b35	UTSW	5	87003332	missense	possibly damaging	0.81
R3055:Ugt2b35	UTSW	5	87001598	missense	probably benign	0.05
R3793:Ugt2b35	UTSW	5	87001606	missense	probably benign	0.15
R4452:Ugt2b35	UTSW	5	87003378	missense	probably damaging	0.99
R4548:Ugt2b35	UTSW	5	87008275	nonsense	probably null
R4902:Ugt2b35	UTSW	5	87003300	missense	possibly damaging	0.89
R5311:Ugt2b35	UTSW	5	87011280	nonsense	probably null
R6187:Ugt2b35	UTSW	5	87007322	missense	probably damaging	0.98
R6332:Ugt2b35	UTSW	5	87001556	missense	probably damaging	1.00
R6719:Ugt2b35	UTSW	5	87007388	missense	probably damaging	1.00
R7211:Ugt2b35	UTSW	5	87001318	missense	probably benign	0.39
R7652:Ugt2b35	UTSW	5	87001510	missense	probably damaging	0.99
R7766:Ugt2b35	UTSW	5	87001202	missense	possibly damaging	0.94
R7825:Ugt2b35	UTSW	5	87001359	nonsense	probably null
R8188:Ugt2b35	UTSW	5	87001443	missense	probably damaging	0.98
R8189:Ugt2b35	UTSW	5	87001443	missense	probably damaging	0.98
R8191:Ugt2b35	UTSW	5	87001443	missense	probably damaging	0.98
R8192:Ugt2b35	UTSW	5	87001443	missense	probably damaging	0.98
R8193:Ugt2b35	UTSW	5	87001443	missense	probably damaging	0.98
R8220:Ugt2b35	UTSW	5	87001443	missense	probably damaging	0.98
R8288:Ugt2b35	UTSW	5	87001457	missense	probably damaging	1.00

Posted On

2013-12-09