Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02361:Fzd10'

290497

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fzd10

Ensembl Gene

ENSMUSG00000081683

Gene Name

frizzled class receptor 10

Synonyms

Fz-10

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02361

Quality Score

Status

Chromosome

Chromosomal Location

128600844-128604093 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128601868 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 217 (D217E)

Ref Sequence

ENSEMBL: ENSMUSP00000114114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117102]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091324

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117102
AA Change: D217E

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114114
Gene: ENSMUSG00000081683
AA Change: D217E

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FRI	34	153	7.83e-68	SMART
Frizzled	218	542	2.62e-207	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199981

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not appear to result in a phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp1	A	C	6: 55,345,513	L164F	possibly damaging	Het
Bfsp1	T	C	2: 143,831,987	E261G	probably damaging	Het
Brinp2	A	G	1: 158,247,178	C458R	probably damaging	Het
Cacng3	T	G	7: 122,671,946	M58R	possibly damaging	Het
Cfap43	A	T	19: 47,897,413	C254*	probably null	Het
Cnga1	T	C	5: 72,616,718		probably null	Het
Dis3	A	T	14: 99,079,712	Y765*	probably null	Het
Dpep1	T	A	8: 123,200,218	S260R	probably benign	Het
Elmod1	A	G	9: 53,931,558	L106P	probably damaging	Het
Fut10	A	G	8: 31,201,370	Y81C	probably damaging	Het
Gap43	T	C	16: 42,340,508		probably benign	Het
Gigyf1	T	C	5: 137,519,727		probably benign	Het
Gm1840	T	C	8: 5,640,896		noncoding transcript	Het
Gpc5	C	T	14: 115,133,287	R175*	probably null	Het
Kcna1	C	A	6: 126,642,906	Q150H	probably damaging	Het
Lama5	A	T	2: 180,193,884	C1225*	probably null	Het
Lrrc25	A	T	8: 70,617,827	D86V	probably benign	Het
Madd	A	T	2: 91,162,198	V1043E	probably benign	Het
Mov10	A	T	3: 104,804,121		probably benign	Het
Mzb1	T	A	18: 35,649,197	H46L	possibly damaging	Het
Nek10	A	T	14: 14,843,856	Q193L	probably damaging	Het
Nos3	A	T	5: 24,367,623	I187F	probably damaging	Het
Olfr1231	T	A	2: 89,303,182	M137L	probably benign	Het
Olfr473	T	A	7: 107,934,277	Y252*	probably null	Het
Olfr822	A	G	10: 130,075,274	Y288C	probably damaging	Het
Pgap1	T	C	1: 54,512,816	T486A	probably benign	Het
Prdm9	C	T	17: 15,562,847	V58M	probably damaging	Het
Prkd2	A	G	7: 16,847,658	Y146C	probably damaging	Het
Psmd9	G	T	5: 123,248,316	R175I	probably damaging	Het
Pxdn	A	G	12: 29,999,189	D618G	probably damaging	Het
Rgs6	A	T	12: 82,618,619		probably benign	Het
Rrm2	G	T	12: 24,711,439		probably benign	Het
Shank3	T	C	15: 89,504,333	V376A	probably damaging	Het
Slc5a10	A	G	11: 61,719,840		probably null	Het
Slfn3	A	T	11: 83,213,242	Q313L	possibly damaging	Het
Sptbn1	A	T	11: 30,110,783	F2062L	probably damaging	Het
Tbc1d10a	T	C	11: 4,215,047	V500A	probably benign	Het
Tcea1	T	C	1: 4,896,347		probably benign	Het
Thsd7a	T	C	6: 12,348,193		probably benign	Het
Tm9sf4	C	T	2: 153,187,650	T173M	probably benign	Het
Tmtc2	T	C	10: 105,271,526	T709A	probably benign	Het
Zfp385b	T	C	2: 77,450,303	E97G	probably damaging	Het
Zim1	A	T	7: 6,682,874		probably null	Het

Other mutations in Fzd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Fzd10	APN	5	128601528	missense	probably damaging	1.00
IGL02354:Fzd10	APN	5	128601868	missense	possibly damaging	0.89
IGL03088:Fzd10	APN	5	128602605	missense	possibly damaging	0.81
R0530:Fzd10	UTSW	5	128602013	missense	probably damaging	1.00
R0645:Fzd10	UTSW	5	128602598	missense	possibly damaging	0.94
R1515:Fzd10	UTSW	5	128602559	missense	probably damaging	1.00
R3930:Fzd10	UTSW	5	128602412	missense	probably damaging	1.00
R4467:Fzd10	UTSW	5	128601276	missense	probably benign	0.01
R4976:Fzd10	UTSW	5	128602114	nonsense	probably null
R5156:Fzd10	UTSW	5	128601302	missense	possibly damaging	0.68
R5202:Fzd10	UTSW	5	128602116	missense	possibly damaging	0.78
R5874:Fzd10	UTSW	5	128601300	missense	probably benign	0.41
R6238:Fzd10	UTSW	5	128602931	missense	probably damaging	0.99
R6921:Fzd10	UTSW	5	128601582	missense	probably damaging	0.99
R7684:Fzd10	UTSW	5	128601416	missense	possibly damaging	0.73
Z1088:Fzd10	UTSW	5	128601246	missense	probably damaging	0.98

Posted On

2015-04-16