Mutagenetix > Incidental Mutation

Incidental Mutation 'R5663:Fzr1'

444212

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

043306-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81366222-81378516 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81370526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 137 (S137P)

Ref Sequence

ENSEMBL: ENSMUSP00000020457 (fasta)

Gene Model

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

AlphaFold

Q9R1K5

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
AA Change: S137P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235
AA Change: S137P

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: ENSMUST00000127203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138343

Predicted Effect

probably benign
Transcript: ENSMUST00000140901
AA Change: S137P

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

SMART Domains

Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235
AA Change: S137P

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,221	K54E	probably damaging	Het
1700021F07Rik	C	T	2: 173,527,897	P68L	probably damaging	Het
5330417C22Rik	T	C	3: 108,492,083	T64A	probably benign	Het
Adgra3	T	C	5: 49,999,285	N368D	probably benign	Het
Agfg1	T	A	1: 82,893,452	S444R	probably damaging	Het
Arhgap44	A	T	11: 65,024,291	F384I	probably damaging	Het
Atp8b2	T	C	3: 89,941,794	N1078D	probably benign	Het
Bcan	G	A	3: 87,995,613	T286I	probably damaging	Het
Cacna1d	A	G	14: 30,123,340	L624P	probably damaging	Het
Dnah7c	C	A	1: 46,535,148	F994L	probably damaging	Het
Dpp6	A	G	5: 27,049,622	I12V	possibly damaging	Het
Edil3	A	G	13: 89,042,508	I101M	probably damaging	Het
Fam160a1	T	C	3: 85,672,433	T822A	probably benign	Het
Farp2	T	C	1: 93,570,013	V255A	probably damaging	Het
Gm884	A	G	11: 103,613,123	V497A	probably benign	Het
H2-Eb2	T	C	17: 34,333,408	F76L	possibly damaging	Het
Helb	A	G	10: 120,105,793	I330T	possibly damaging	Het
Il18rap	T	A	1: 40,531,557	C220S	probably damaging	Het
Kdm4c	T	C	4: 74,399,348	V966A	probably damaging	Het
Kdm5b	T	C	1: 134,630,635	V1460A	probably benign	Het
Kif15	T	A	9: 122,991,851		probably null	Het
Masp1	T	C	16: 23,452,938	E621G	possibly damaging	Het
Mier1	T	A	4: 103,150,542	S285T	probably damaging	Het
Mroh6	A	G	15: 75,888,588	S46P	probably benign	Het
Myo1h	A	T	5: 114,334,094	Q395L	probably damaging	Het
Ndufb5	T	C	3: 32,747,749	I86T	possibly damaging	Het
Nelfb	T	A	2: 25,203,489	E417V	probably benign	Het
Nfkb1	T	G	3: 135,603,851	D494A	possibly damaging	Het
Nid1	G	A	13: 13,472,834	C395Y	probably damaging	Het
Nr4a3	G	T	4: 48,055,931	R319I	probably damaging	Het
Olfr1508	A	T	14: 52,463,595	I138K	probably benign	Het
Olfr523	G	A	7: 140,176,321	C67Y	probably damaging	Het
Olfr695	T	A	7: 106,873,670	T192S	probably benign	Het
Paqr5	A	G	9: 61,968,862	V130A	probably benign	Het
Phlpp2	G	A	8: 109,904,344	V207I	probably benign	Het
Pik3ca	C	T	3: 32,462,779	T1052M	probably damaging	Het
Pikfyve	T	C	1: 65,216,028	Y347H	probably benign	Het
Ptprz1	A	G	6: 23,035,143	H1964R	probably damaging	Het
Rassf7	C	T	7: 141,217,090	T72I	probably damaging	Het
Rfx3	A	G	19: 27,793,617	F603S	probably damaging	Het
Slc27a4	T	A	2: 29,812,370	V477D	probably damaging	Het
Slc9a3	A	C	13: 74,163,712	D593A	probably damaging	Het
Smyd1	A	G	6: 71,239,721	I14T	probably benign	Het
Sox6	T	A	7: 115,550,054	I404L	probably benign	Het
Tas2r121	G	A	6: 132,700,557	H151Y	probably benign	Het
Tgfb1	C	T	7: 25,694,281	T192M	possibly damaging	Het
Ubr4	T	C	4: 139,428,583	Y2240H	possibly damaging	Het
Whrn	T	A	4: 63,418,448	N626Y	probably damaging	Het
Wisp2	G	A	2: 163,825,253	R58Q	probably damaging	Het
Xrra1	T	A	7: 99,886,043	I185N	probably damaging	Het
Zfp94	G	A	7: 24,302,827	R397W	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
R5108:Fzr1	UTSW	10	81369450	splice site	probably benign
R5201:Fzr1	UTSW	10	81367528	missense	probably damaging	1.00
R5494:Fzr1	UTSW	10	81371344	critical splice donor site	probably null
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
R7883:Fzr1	UTSW	10	81368635	missense	probably damaging	1.00
R8374:Fzr1	UTSW	10	81367534	missense	probably damaging	1.00
R8428:Fzr1	UTSW	10	81371108	missense	probably damaging	0.99
R9149:Fzr1	UTSW	10	81369415	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- ACCTTGAAGGGAATCTTAGAGATC -3'
(R):5'- AGAGCACAAGGGGCTCTTTAC -3'

Sequencing Primer
(F):5'- AGGGAATCTTAGAGATCTTGCG -3'
(R):5'- CTCTTTACGGTGAGCCAGG -3'

Posted On

2016-11-09