Mutagenetix > Incidental Mutations

Incidental Mutation 'R5108:Fzr1'

393682

Institutional Source

Beutler Lab

Gene Symbol

Fzr1

Ensembl Gene

ENSMUSG00000020235

Gene Name

fizzy and cell division cycle 20 related 1

Synonyms

Cdh1, Fyr

MMRRC Submission

042696-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81366222-81378516 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 81369450 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114203 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020456] [ENSMUST00000020457] [ENSMUST00000044844] [ENSMUST00000118812] [ENSMUST00000140901]

Predicted Effect

probably benign
Transcript: ENSMUST00000020456

SMART Domains

Protein: ENSMUSP00000020456
Gene: ENSMUSG00000020234

Domain	Start	End	E-Value	Type
Pfam:DUF4531	23	204	1.3e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020457

SMART Domains

Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235

Domain	Start	End	E-Value	Type
Blast:WD40	172	213	8e-21	BLAST
WD40	218	257	1.2e-2	SMART
WD40	260	297	6.79e-2	SMART
WD40	302	341	3.55e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000044844

SMART Domains

Protein: ENSMUSP00000036116
Gene: ENSMUSG00000034854

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:MFS_2	20	423	5.2e-43	PFAM
Pfam:MFS_1	154	416	6.8e-12	PFAM
transmembrane domain	441	463	N/A	INTRINSIC
low complexity region	464	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118812

SMART Domains

Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235

Domain	Start	End	E-Value	Type
WD40	129	168	5.6e-3	SMART
WD40	171	208	6.79e-2	SMART
WD40	213	252	3.99e-8	SMART
WD40	255	297	2.84e-4	SMART
WD40	300	340	1.98e1	SMART
WD40	343	382	1.11e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130762

Predicted Effect

probably benign
Transcript: ENSMUST00000131736

SMART Domains

Protein: ENSMUSP00000123068
Gene: ENSMUSG00000020234

Domain	Start	End	E-Value	Type
Pfam:DUF4531	1	128	2.6e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138343

Predicted Effect

probably benign
Transcript: ENSMUST00000140901

SMART Domains

Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235

Domain	Start	End	E-Value	Type
Blast:WD40	172	213	1e-19	BLAST
WD40	218	257	1.2e-2	SMART
WD40	260	297	6.79e-2	SMART
WD40	302	341	3.99e-8	SMART
WD40	344	386	2.84e-4	SMART
WD40	389	429	1.98e1	SMART
WD40	432	471	1.11e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150824

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

99% (79/80)

MGI Phenotype

PHENOTYPE: Homozygous null mutants die embryonically at around E9.5-E12.5 with poorly developed placentae, no placental giant cells and/or erythroblast deficiency. Homozygous MEFs undergo premature senescence. Heterozygotes exhibit learning/memory defects and/or elevatedspontaneous epithelial tumor incidence. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,094,208	N94Y	probably damaging	Het
Ak2	A	G	4: 129,002,241	T104A	probably damaging	Het
Alox12b	G	T	11: 69,157,382	A46S	probably benign	Het
Ank1	G	T	8: 23,132,555	V1662F	probably benign	Het
Anxa3	T	C	5: 96,830,414	I219T	possibly damaging	Het
Arhgap40	G	A	2: 158,547,679	V588M	probably damaging	Het
Arhgef38	T	C	3: 133,137,268	T514A	probably benign	Het
Ascl4	C	A	10: 85,928,558	A23E	probably benign	Het
Bcl11b	T	C	12: 107,965,726	T196A	probably benign	Het
C1ra	A	T	6: 124,522,922	Y689F	probably damaging	Het
Ccr3	A	G	9: 124,028,931	N101S	probably benign	Het
Cep70	A	T	9: 99,263,812		probably null	Het
Ces1b	A	G	8: 93,071,913	V215A	probably damaging	Het
Cndp1	A	T	18: 84,632,061	I169N	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Fbxo2	A	G	4: 148,166,029	Q275R	probably damaging	Het
Fbxo44	T	C	4: 148,158,563	N133S	probably damaging	Het
Gm4778	C	T	3: 94,265,835	S50L	probably damaging	Het
Grn	T	C	11: 102,434,402	S213P	probably benign	Het
Ifi203	A	T	1: 173,924,014	C414S	probably damaging	Het
Igfn1	C	T	1: 135,982,441	R135H	probably benign	Het
Kcnk10	T	C	12: 98,435,301	M358V	probably benign	Het
Kcnn2	A	T	18: 45,592,055	Y471F	probably damaging	Het
Klhl20	A	T	1: 161,099,250	V391E	probably damaging	Het
Krt2	C	T	15: 101,813,286	G440D	possibly damaging	Het
Lpin1	A	T	12: 16,573,715	Y223N	probably benign	Het
Luzp2	G	A	7: 55,265,290	C321Y	probably damaging	Het
Mcm3ap	T	C	10: 76,502,702	V1388A	probably benign	Het
Mdga2	A	T	12: 66,486,741	H223Q	probably benign	Het
Mgat4e	G	T	1: 134,541,223	P361Q	probably benign	Het
Mylk3	A	T	8: 85,359,092	I208N	possibly damaging	Het
Myom2	T	A	8: 15,132,667	V1368E	probably damaging	Het
Mypn	C	T	10: 63,136,294	D656N	probably damaging	Het
Nat10	C	A	2: 103,732,203	R596L	probably damaging	Het
Nek8	T	C	11: 78,172,527	D137G	probably damaging	Het
Neurl1a	A	G	19: 47,257,635	K552E	probably damaging	Het
Npdc1	C	T	2: 25,408,655	H260Y	probably damaging	Het
Nuggc	A	T	14: 65,638,680	I581F	probably damaging	Het
Olfr930	T	A	9: 38,930,855	I228N	probably damaging	Het
P2rx6	T	C	16: 17,562,173	Y54H	probably damaging	Het
Pcmtd2	A	G	2: 181,844,423	E112G	probably damaging	Het
Pcnx4	G	A	12: 72,574,081	V892I	probably benign	Het
Pdss1	T	A	2: 22,906,883	V136E	possibly damaging	Het
Pias3	T	C	3: 96,704,937	L561P	possibly damaging	Het
Pomgnt1	G	A	4: 116,156,256		probably benign	Het
Scn2a	C	T	2: 65,688,630	T400I	probably damaging	Het
Sec24d	T	A	3: 123,305,785		probably null	Het
Sftpb	T	G	6: 72,304,656	L11R	probably damaging	Het
Slc22a19	A	G	19: 7,711,171	I8T	probably benign	Het
Slc22a30	A	G	19: 8,386,426	S266P	probably damaging	Het
Slc36a2	C	A	11: 55,159,388	G465W	probably damaging	Het
Slc4a2	G	A	5: 24,439,333	M976I	probably damaging	Het
Smcr8	C	T	11: 60,779,870	Q615*	probably null	Het
Sobp	T	C	10: 43,160,819	E41G	probably damaging	Het
Spz1	A	T	13: 92,575,046	C307*	probably null	Het
Sult1d1	C	T	5: 87,563,869		probably null	Het
Svs1	C	T	6: 48,988,570	T504I	probably damaging	Het
Tas2r110	T	C	6: 132,868,705	M233T	probably damaging	Het
Tmc3	C	A	7: 83,619,948	S781R	probably damaging	Het
Tmem234	G	T	4: 129,601,937		probably benign	Het
Trpm3	A	T	19: 22,904,714	Q645L	probably benign	Het
Ttn	C	A	2: 76,734,711	V28391F	probably damaging	Het
Txnrd3	G	T	6: 89,673,034	A425S	probably benign	Het
Ubr1	C	T	2: 120,963,422	G94R	probably benign	Het
Ufl1	A	G	4: 25,269,026		probably null	Het
Utp20	T	C	10: 88,768,873	D1720G	probably benign	Het
Vmn1r13	T	A	6: 57,209,916	M20K	probably benign	Het
Vmn1r61	A	G	7: 5,610,520	I265T	probably benign	Het
Zfp120	T	C	2: 150,119,942	T29A	probably damaging	Het

Other mutations in Fzr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Fzr1	APN	10	81370525	nonsense	probably null
IGL02541:Fzr1	APN	10	81370033	missense	probably damaging	0.98
IGL03327:Fzr1	APN	10	81369184	missense	probably benign	0.05
IGL03346:Fzr1	APN	10	81369184	missense	probably benign	0.05
PIT4445001:Fzr1	UTSW	10	81369394	nonsense	probably null
R0179:Fzr1	UTSW	10	81369070	splice site	probably benign
R0403:Fzr1	UTSW	10	81369368	missense	possibly damaging	0.95
R1591:Fzr1	UTSW	10	81370367	missense	possibly damaging	0.75
R1987:Fzr1	UTSW	10	81370319	missense	probably damaging	0.98
R2358:Fzr1	UTSW	10	81367640	critical splice donor site	probably null
R2844:Fzr1	UTSW	10	81369418	missense	probably damaging	1.00
R4657:Fzr1	UTSW	10	81367552	critical splice acceptor site	probably null
R5054:Fzr1	UTSW	10	81371419	utr 5 prime	probably benign
R5201:Fzr1	UTSW	10	81367528	missense	probably damaging	1.00
R5494:Fzr1	UTSW	10	81371344	critical splice donor site	probably null
R5663:Fzr1	UTSW	10	81370526	missense	probably benign	0.00
R5733:Fzr1	UTSW	10	81370326	missense	possibly damaging	0.95
R5997:Fzr1	UTSW	10	81370826	critical splice acceptor site	probably null
R6777:Fzr1	UTSW	10	81370493	missense	probably damaging	1.00
R7055:Fzr1	UTSW	10	81370223	missense	probably damaging	1.00
R7078:Fzr1	UTSW	10	81368629	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTACAGAGTGGCAGCAGGTTAG -3'
(R):5'- GGGTTTTAAGCAAAGCAGTTTGTAG -3'

Sequencing Primer
(F):5'- AGCAGGTTAGGACTGGCC -3'
(R):5'- GTTTGTAGAAGCAGCCTATAGCCC -3'

Posted On

2016-06-15