Mutagenetix > Incidental Mutations

Incidental Mutation 'R8454:Fzd1'

654919

Institutional Source

Beutler Lab

Gene Symbol

Fzd1

Ensembl Gene

ENSMUSG00000044674

Gene Name

frizzled class receptor 1

Synonyms

FZ-1, Fz1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4753839-4758035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4757336 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 82 (Q82R)

Ref Sequence

ENSEMBL: ENSMUSP00000058629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054294]

Predicted Effect

probably benign
Transcript: ENSMUST00000054294
AA Change: Q82R

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000058629
Gene: ENSMUSG00000044674
AA Change: Q82R

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC
low complexity region	71	96	N/A	INTRINSIC
FRI	110	227	7.77e-72	SMART
low complexity region	249	262	N/A	INTRINSIC
Frizzled	304	635	4.18e-224	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains, and a C-terminal PDZ domain-binding motif. The FZD1 transcript is expressed in various tissues. [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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,792,572	F493Y	probably benign	Het
Abcc10	C	A	17: 46,324,177	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,795,682		probably benign	Het
Agt	G	A	8: 124,564,103	T155M	probably benign	Het
Atp8b3	A	G	10: 80,525,799	V763A	probably benign	Het
Btn1a1	C	A	13: 23,464,250	V138L	probably benign	Het
Cd163	A	T	6: 124,328,965	N1109I	probably benign	Het
Cideb	T	A	14: 55,755,141	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,232,249	T126A	probably benign	Het
Dusp27	A	T	1: 166,108,133	N165K	probably damaging	Het
Elfn1	T	C	5: 139,971,471	Y77H	probably damaging	Het
Eml3	A	G	19: 8,934,994	H386R	probably damaging	Het
Fbxo21	A	G	5: 117,995,414	D413G	probably damaging	Het
Fkbp8	T	A	8: 70,531,763		probably null	Het
Gast	T	C	11: 100,336,568	L29P	probably benign	Het
Glb1l2	C	A	9: 26,806,417		probably benign	Het
Gm1110	C	G	9: 26,883,280	Q483H	probably benign	Het
Gm1110	T	A	9: 26,883,281	Q483L	probably benign	Het
Gm5737	T	A	7: 120,831,180	V420E	possibly damaging	Het
Gpc6	T	C	14: 116,925,979	L15P	probably damaging	Het
Hagh	C	A	17: 24,857,562	S161*	probably null	Het
Hrh1	A	G	6: 114,480,853	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,879,940	M100K	probably damaging	Het
Itgb8	A	T	12: 119,170,778	V518D	probably benign	Het
Krt82	T	C	15: 101,541,803	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Met	A	G	6: 17,491,769	S177G	probably damaging	Het
Myl9	T	A	2: 156,781,128	I162N	possibly damaging	Het
Npat	T	A	9: 53,566,951	N973K	possibly damaging	Het
Olfr493	A	T	7: 108,346,682	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,768,137	D674V	possibly damaging	Het
Phtf1	T	A	3: 104,004,449	N702K	probably damaging	Het
Plaa	A	T	4: 94,569,477	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,458,098	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 84,965,147	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,848,553	Q685L	probably benign	Het
Ryr1	C	A	7: 29,015,717	G4661C	unknown	Het
Samd13	T	A	3: 146,646,402	M65L	probably benign	Het
Sec22c	A	G	9: 121,695,655	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,107,022	T431K	probably benign	Het
Sin3b	A	G	8: 72,741,480	M277V	probably benign	Het
Sis	T	C	3: 72,947,501	T468A	possibly damaging	Het
Slitrk3	T	C	3: 73,049,180	N753S	probably benign	Het
Slitrk6	C	A	14: 110,752,046	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,724	A478T	probably damaging	Het
Sugp1	C	A	8: 70,071,597	Y617*	probably null	Het
Tinag	T	C	9: 77,031,695	D167G	probably damaging	Het
Tk2	A	G	8: 104,241,114		probably null	Het
Tmem209	A	T	6: 30,489,309	V514D	probably damaging	Het
Tmprss9	A	G	10: 80,887,486	H260R	probably benign	Het
Tnfrsf14	T	A	4: 154,926,655	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,287,983	D285E	probably benign	Het
Togaram2	C	G	17: 71,697,878	A310G	probably benign	Het
Trpv3	A	G	11: 73,291,622	Y544C	probably damaging	Het
Ttl	T	A	2: 129,066,184	V13D	probably damaging	Het
Usp40	A	T	1: 87,980,972	D602E	probably benign	Het
Vamp5	A	G	6: 72,370,393		probably benign	Het
Vmn2r65	T	A	7: 84,940,194	H838L	possibly damaging	Het
Wdr63	T	C	3: 146,097,227	K70E	probably damaging	Het
Zfp960	T	A	17: 17,088,199	Y392N	probably benign	Het

Other mutations in Fzd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01560:Fzd1	APN	5	4756037	missense	probably benign	0.11
R0055:Fzd1	UTSW	5	4756037	missense	possibly damaging	0.86
R0055:Fzd1	UTSW	5	4756037	missense	possibly damaging	0.86
R0402:Fzd1	UTSW	5	4755702	missense	possibly damaging	0.46
R1376:Fzd1	UTSW	5	4757174	missense	possibly damaging	0.84
R1376:Fzd1	UTSW	5	4757174	missense	possibly damaging	0.84
R1585:Fzd1	UTSW	5	4756278	missense	probably damaging	1.00
R1606:Fzd1	UTSW	5	4757514	nonsense	probably null
R1708:Fzd1	UTSW	5	4755791	missense	possibly damaging	0.82
R1767:Fzd1	UTSW	5	4756812	missense	probably benign
R1803:Fzd1	UTSW	5	4756385	missense	probably damaging	0.97
R1909:Fzd1	UTSW	5	4757481	missense	probably benign	0.01
R2990:Fzd1	UTSW	5	4755758	missense	probably damaging	0.98
R4446:Fzd1	UTSW	5	4755777	missense	probably damaging	1.00
R4631:Fzd1	UTSW	5	4755865	nonsense	probably null
R4632:Fzd1	UTSW	5	4755865	nonsense	probably null
R4633:Fzd1	UTSW	5	4755865	nonsense	probably null
R5110:Fzd1	UTSW	5	4756448	missense	probably benign	0.00
R6406:Fzd1	UTSW	5	4756089	missense	probably damaging	1.00
R6489:Fzd1	UTSW	5	4757336	missense	probably benign	0.33
R6642:Fzd1	UTSW	5	4755696	missense	probably damaging	1.00
R7095:Fzd1	UTSW	5	4755824	small deletion	probably benign
R7150:Fzd1	UTSW	5	4756145	missense	probably benign	0.14
R7204:Fzd1	UTSW	5	4755980	missense	probably damaging	1.00
R8290:Fzd1	UTSW	5	4757060	missense	possibly damaging	0.90
R8354:Fzd1	UTSW	5	4757336	missense	probably benign	0.18
X0028:Fzd1	UTSW	5	4756958	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGAAGAACTTGAGCTCGG -3'
(R):5'- CTTGGAACTTTGTGCCGAAGC -3'

Sequencing Primer
(F):5'- AGGGTAGAACTGGTGCACCTC -3'
(R):5'- TGCCGAAGCACTCCCGG -3'

Posted On

2020-10-20