Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01417:Upk3b'

80429

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Upk3b

Ensembl Gene

ENSMUSG00000042985

Gene Name

uroplakin 3B

Synonyms

PMS2L14, UpIIIb, P35

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01417

Quality Score

Status

Chromosome

Chromosomal Location

136067350-136073847 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136067920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 37 (I37T)

Ref Sequence

ENSEMBL: ENSMUSP00000062312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062606]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062606
AA Change: I37T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062312
Gene: ENSMUSG00000042985
AA Change: I37T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal heart, urinary bladder and upper urogenital system development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa13	T	A	15: 58,228,043 (GRCm39)		noncoding transcript	Het
Ctdsp2	T	C	10: 126,829,743 (GRCm39)	I125T	probably benign	Het
Dnah7a	T	C	1: 53,623,759 (GRCm39)	K1044E	probably benign	Het
Edem2	T	C	2: 155,570,898 (GRCm39)	Y44C	probably damaging	Het
Elmo1	T	C	13: 20,435,345 (GRCm39)		probably null	Het
Flnb	T	C	14: 7,905,513 (GRCm38)	S1088P	probably damaging	Het
Fmnl1	A	G	11: 103,087,520 (GRCm39)		probably benign	Het
Fv1	T	A	4: 147,953,786 (GRCm39)	C117*	probably null	Het
Hmcn1	T	C	1: 150,734,990 (GRCm39)	D174G	probably damaging	Het
Htatip2	G	A	7: 49,420,573 (GRCm39)	V140I	possibly damaging	Het
Mill1	G	T	7: 17,998,708 (GRCm39)	R306L	probably benign	Het
Myoz2	G	A	3: 122,800,081 (GRCm39)	T249I	possibly damaging	Het
Nrdc	T	C	4: 108,858,027 (GRCm39)		probably benign	Het
Or2r3	T	A	6: 42,449,046 (GRCm39)	H22L	probably benign	Het
Pcbp1	T	C	6: 86,502,836 (GRCm39)	H21R	probably damaging	Het
Pdcd2l	A	C	7: 33,892,170 (GRCm39)	L221R	probably damaging	Het
Ppp1r3b	A	G	8: 35,851,566 (GRCm39)	E135G	probably damaging	Het
Rbsn	T	C	6: 92,184,100 (GRCm39)	E71G	possibly damaging	Het
Shc3	T	C	13: 51,585,200 (GRCm39)	R472G	probably benign	Het
Sox8	A	C	17: 25,786,502 (GRCm39)		probably null	Het
Tacr3	G	T	3: 134,535,242 (GRCm39)	W70L	possibly damaging	Het
Tacr3	A	T	3: 134,535,307 (GRCm39)	I92F	possibly damaging	Het
Ubr4	A	G	4: 139,138,111 (GRCm39)	N1156S	probably damaging	Het
Vmn1r35	T	A	6: 66,656,191 (GRCm39)	I160F	probably benign	Het
Vps50	T	C	6: 3,522,377 (GRCm39)		probably benign	Het

Other mutations in Upk3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02928:Upk3b	APN	5	136,067,995 (GRCm39)	missense	probably benign	0.00
PIT4468001:Upk3b	UTSW	5	136,071,861 (GRCm39)	missense	probably benign	0.04
R0634:Upk3b	UTSW	5	136,068,930 (GRCm39)	missense	possibly damaging	0.61
R5538:Upk3b	UTSW	5	136,072,890 (GRCm39)	missense	probably benign	0.28
R6878:Upk3b	UTSW	5	136,068,001 (GRCm39)	missense	probably benign	0.00
R7828:Upk3b	UTSW	5	136,068,993 (GRCm39)	missense	possibly damaging	0.93
R7875:Upk3b	UTSW	5	136,069,057 (GRCm39)	missense	probably benign	0.02
R8182:Upk3b	UTSW	5	136,067,982 (GRCm39)	missense	probably damaging	1.00
R9578:Upk3b	UTSW	5	136,067,736 (GRCm39)	missense	unknown

Posted On

2013-11-05