Mutagenetix > Incidental Mutation

Incidental Mutation 'R5110:Fzd1'

393792

Institutional Source

Beutler Lab

Gene Symbol

Fzd1

Ensembl Gene

ENSMUSG00000044674

Gene Name

frizzled class receptor 1

Synonyms

Fz1, FZ-1

MMRRC Submission

042698-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5110 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4803839-4808035 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4806448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 378 (D378G)

Ref Sequence

ENSEMBL: ENSMUSP00000058629 (fasta)

Gene Model

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

AlphaFold

O70421

Predicted Effect

probably benign
Transcript: ENSMUST00000054294
AA Change: D378G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000058629
Gene: ENSMUSG00000044674
AA Change: D378G

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

Meta Mutation Damage Score

0.0827

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

100% (61/61)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	C	A	9: 124,057,987 (GRCm39)		probably null	Het
2310016G11Rik	G	A	7: 44,327,286 (GRCm39)		noncoding transcript	Het
Abi2	G	A	1: 60,489,280 (GRCm39)	V98I	probably benign	Het
Adam21	T	C	12: 81,606,989 (GRCm39)	T258A	probably benign	Het
Adam33	A	T	2: 130,895,690 (GRCm39)	C542S	probably damaging	Het
Adamts15	A	G	9: 30,832,740 (GRCm39)	V265A	probably benign	Het
Ahnak	A	T	19: 8,992,123 (GRCm39)	D4469V	probably damaging	Het
Aicda	A	G	6: 122,538,144 (GRCm39)	N101D	probably benign	Het
Als2	A	T	1: 59,224,600 (GRCm39)	D1040E	probably damaging	Het
Car15	T	C	16: 17,653,211 (GRCm39)	R319G	possibly damaging	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Col1a1	T	C	11: 94,832,419 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,378,374 (GRCm39)	*594W	probably null	Het
Cwf19l2	A	G	9: 3,450,012 (GRCm39)		probably null	Het
Dctn4	C	T	18: 60,679,387 (GRCm39)	P236S	probably damaging	Het
Dennd2b	A	G	7: 109,141,697 (GRCm39)	S556P	probably benign	Het
Ehmt1	C	A	2: 24,742,802 (GRCm39)	C459F	probably benign	Het
Enox1	T	C	14: 77,945,127 (GRCm39)		probably null	Het
Fam136b-ps	A	G	15: 31,276,856 (GRCm39)		probably benign	Het
Golga5	G	A	12: 102,438,336 (GRCm39)	R17Q	probably benign	Het
Hk1	A	T	10: 62,122,430 (GRCm39)	Y422N	probably damaging	Het
Hsf4	A	G	8: 105,999,427 (GRCm39)	D255G	probably benign	Het
Ift81	A	G	5: 122,689,121 (GRCm39)	V665A	probably benign	Het
Igkv13-84	T	C	6: 68,916,592 (GRCm39)	F3L	probably benign	Het
Kcnh1	T	A	1: 192,020,055 (GRCm39)	S433R	possibly damaging	Het
Ktn1	A	G	14: 47,941,744 (GRCm39)		probably benign	Het
Lrp4	A	T	2: 91,327,417 (GRCm39)	D1471V	possibly damaging	Het
Macf1	A	T	4: 123,261,801 (GRCm39)	D6990E	probably damaging	Het
Map3k6	G	A	4: 132,974,859 (GRCm39)		probably benign	Het
Miox	T	A	15: 89,219,759 (GRCm39)	D82E	probably benign	Het
Or4n5	T	G	14: 50,133,032 (GRCm39)	I76L	possibly damaging	Het
Ovgp1	G	C	3: 105,885,099 (GRCm39)	R133P	probably damaging	Het
Per2	G	A	1: 91,357,237 (GRCm39)	T642I	possibly damaging	Het
Pparg	T	C	6: 115,449,964 (GRCm39)	V321A	probably damaging	Het
Pptc7	T	A	5: 122,446,312 (GRCm39)	N17K	probably benign	Het
Prpf19	T	C	19: 10,876,651 (GRCm39)		probably benign	Het
Rai14	T	C	15: 10,690,496 (GRCm39)		probably benign	Het
Sardh	T	C	2: 27,079,559 (GRCm39)	D911G	probably benign	Het
Sbf2	T	A	7: 109,963,864 (GRCm39)	T994S	probably benign	Het
Slc1a1	G	A	19: 28,889,208 (GRCm39)	E494K	probably benign	Het
Smarcc1	A	G	9: 110,026,852 (GRCm39)	K771E	possibly damaging	Het
Stim1	T	C	7: 101,917,629 (GRCm39)	V3A	unknown	Het
Syne3	G	A	12: 104,909,629 (GRCm39)	R736C	probably benign	Het
Synj2	T	C	17: 6,087,990 (GRCm39)	V986A	probably benign	Het
Tinag	A	G	9: 76,859,289 (GRCm39)	S440P	probably damaging	Het
Tshz2	A	G	2: 169,726,117 (GRCm39)	T238A	possibly damaging	Het
Ttc8	T	C	12: 98,908,562 (GRCm39)	M17T	probably benign	Het
Tubgcp5	G	A	7: 55,458,385 (GRCm39)	R432Q	probably damaging	Het
Ugt1a10	T	A	1: 87,983,974 (GRCm39)		probably null	Het
Usp4	T	A	9: 108,239,877 (GRCm39)	I202N	probably damaging	Het
Vmn1r194	T	G	13: 22,429,170 (GRCm39)	S262R	probably benign	Het
Vmn2r101	T	C	17: 19,831,897 (GRCm39)	F631S	possibly damaging	Het
Vps13b	T	A	15: 35,770,955 (GRCm39)	S2133T	probably damaging	Het
Zfp13	C	A	17: 23,799,834 (GRCm39)	V77F	probably benign	Het
Zscan10	T	A	17: 23,828,606 (GRCm39)	C306S	probably damaging	Het

Other mutations in Fzd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01560:Fzd1	APN	5	4,806,037 (GRCm39)	missense	probably benign	0.11
R0055:Fzd1	UTSW	5	4,806,037 (GRCm39)	missense	possibly damaging	0.86
R0055:Fzd1	UTSW	5	4,806,037 (GRCm39)	missense	possibly damaging	0.86
R0402:Fzd1	UTSW	5	4,805,702 (GRCm39)	missense	possibly damaging	0.46
R1376:Fzd1	UTSW	5	4,807,174 (GRCm39)	missense	possibly damaging	0.84
R1376:Fzd1	UTSW	5	4,807,174 (GRCm39)	missense	possibly damaging	0.84
R1585:Fzd1	UTSW	5	4,806,278 (GRCm39)	missense	probably damaging	1.00
R1606:Fzd1	UTSW	5	4,807,514 (GRCm39)	nonsense	probably null
R1708:Fzd1	UTSW	5	4,805,791 (GRCm39)	missense	possibly damaging	0.82
R1767:Fzd1	UTSW	5	4,806,812 (GRCm39)	missense	probably benign
R1803:Fzd1	UTSW	5	4,806,385 (GRCm39)	missense	probably damaging	0.97
R1909:Fzd1	UTSW	5	4,807,481 (GRCm39)	missense	probably benign	0.01
R2990:Fzd1	UTSW	5	4,805,758 (GRCm39)	missense	probably damaging	0.98
R4446:Fzd1	UTSW	5	4,805,777 (GRCm39)	missense	probably damaging	1.00
R4631:Fzd1	UTSW	5	4,805,865 (GRCm39)	nonsense	probably null
R4632:Fzd1	UTSW	5	4,805,865 (GRCm39)	nonsense	probably null
R4633:Fzd1	UTSW	5	4,805,865 (GRCm39)	nonsense	probably null
R6406:Fzd1	UTSW	5	4,806,089 (GRCm39)	missense	probably damaging	1.00
R6489:Fzd1	UTSW	5	4,807,336 (GRCm39)	missense	probably benign	0.33
R6642:Fzd1	UTSW	5	4,805,696 (GRCm39)	missense	probably damaging	1.00
R7095:Fzd1	UTSW	5	4,805,824 (GRCm39)	small deletion	probably benign
R7150:Fzd1	UTSW	5	4,806,145 (GRCm39)	missense	probably benign	0.14
R7204:Fzd1	UTSW	5	4,805,980 (GRCm39)	missense	probably damaging	1.00
R8290:Fzd1	UTSW	5	4,807,060 (GRCm39)	missense	possibly damaging	0.90
R8354:Fzd1	UTSW	5	4,807,336 (GRCm39)	missense	probably benign	0.18
R8454:Fzd1	UTSW	5	4,807,336 (GRCm39)	missense	probably benign	0.18
R9000:Fzd1	UTSW	5	4,806,211 (GRCm39)	missense	probably damaging	1.00
R9265:Fzd1	UTSW	5	4,807,216 (GRCm39)	missense	probably damaging	0.99
X0028:Fzd1	UTSW	5	4,806,958 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAATACTGTGAGTTGGCCTCG -3'
(R):5'- TCATGTACTTCGGGCCAGAG -3'

Sequencing Primer
(F):5'- GCTGAAGAAGTAGAGCATC -3'
(R):5'- TTCTCGCGCACCTGGATAG -3'

Posted On

2016-06-15