Mutagenetix > Incidental Mutation

Incidental Mutation 'R1987:Fzr1'

222686

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

039999-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1987 (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 81370319 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 178 (V178A)

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 damaging
Transcript: ENSMUST00000020457
AA Change: V178A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235
AA Change: V178A

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: ENSMUST00000130762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138343

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140901
AA Change: V178A

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235
AA Change: V178A

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: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	T	11: 78,268,167 (GRCm38)	Q433L	probably damaging	Het
4932438A13Rik	T	A	3: 36,953,985 (GRCm38)		probably null	Het
Ahnak	A	T	19: 9,015,251 (GRCm38)	D4633V	probably damaging	Het
Akap6	T	C	12: 53,140,795 (GRCm38)	F1664S	possibly damaging	Het
Arhgef28	T	C	13: 97,967,096 (GRCm38)	M803V	probably benign	Het
BC117090	C	A	16: 36,321,832 (GRCm38)	G61C	probably damaging	Het
Ccdc73	T	A	2: 104,931,045 (GRCm38)	L130*	probably null	Het
Ccdc73	A	G	2: 104,999,159 (GRCm38)	E1059G	probably damaging	Het
Ccer2	A	C	7: 28,757,283 (GRCm38)	S151R	possibly damaging	Het
Cep128	T	A	12: 91,230,829 (GRCm38)	H406L	probably benign	Het
Cep135	A	G	5: 76,597,428 (GRCm38)	D229G	probably benign	Het
Cpvl	T	A	6: 53,954,611 (GRCm38)	D103V	probably benign	Het
Disp3	G	A	4: 148,258,753 (GRCm38)	A567V	probably damaging	Het
Dnah5	T	C	15: 28,343,591 (GRCm38)	I2379T	probably damaging	Het
Dnah6	T	C	6: 73,095,044 (GRCm38)	Y2433C	probably damaging	Het
Dock3	A	G	9: 107,108,421 (GRCm38)	I85T	probably benign	Het
Dock9	A	C	14: 121,591,830 (GRCm38)	S1380A	probably benign	Het
Erbin	T	C	13: 103,886,203 (GRCm38)	T43A	probably benign	Het
Fastkd3	T	C	13: 68,585,241 (GRCm38)	V502A	possibly damaging	Het
Fn1	T	C	1: 71,651,625 (GRCm38)	H59R	probably damaging	Het
Fsd2	A	G	7: 81,559,659 (GRCm38)	V145A	possibly damaging	Het
Gnpnat1	T	C	14: 45,380,998 (GRCm38)	R116G	probably damaging	Het
Grm7	T	A	6: 110,914,511 (GRCm38)	V235E	probably damaging	Het
Hdac4	A	C	1: 91,934,645 (GRCm38)	N1002K	probably damaging	Het
Hey1	C	T	3: 8,664,897 (GRCm38)	A167T	probably benign	Het
Hrnr	A	G	3: 93,332,604 (GRCm38)	N3383S	unknown	Het
Ints2	A	T	11: 86,217,800 (GRCm38)	V907D	probably benign	Het
Ispd	T	A	12: 36,521,996 (GRCm38)	L301Q	probably damaging	Het
Jchain	T	A	5: 88,521,467 (GRCm38)	Q109L	probably damaging	Het
Klhdc7a	A	T	4: 139,966,024 (GRCm38)	Y537*	probably null	Het
Klra1	C	T	6: 130,377,779 (GRCm38)	S92N	probably benign	Het
Krt31	C	T	11: 100,049,580 (GRCm38)	G150S	probably benign	Het
Lrrc71	G	A	3: 87,742,643 (GRCm38)	T326M	probably benign	Het
Lrrn4	T	C	2: 132,870,443 (GRCm38)	T487A	probably benign	Het
Map4k5	T	G	12: 69,842,912 (GRCm38)	R198S	probably damaging	Het
Men1	G	A	19: 6,338,837 (GRCm38)	C354Y	probably damaging	Het
Ms4a18	A	T	19: 11,013,655 (GRCm38)	V25E	probably damaging	Het
Mutyh	T	A	4: 116,819,368 (GRCm38)	S512R	possibly damaging	Het
Myh10	G	T	11: 68,814,496 (GRCm38)	A1947S	possibly damaging	Het
Nfasc	T	C	1: 132,610,886 (GRCm38)	D427G	probably damaging	Het
Nlrp9c	A	G	7: 26,378,056 (GRCm38)	M767T	probably benign	Het
Nrbp1	T	C	5: 31,245,391 (GRCm38)	L185P	probably damaging	Het
Pcdh9	G	A	14: 93,888,305 (GRCm38)	P143L	probably damaging	Het
Pcsk6	A	T	7: 65,927,287 (GRCm38)	M158L	possibly damaging	Het
Pkd1	G	T	17: 24,576,592 (GRCm38)		probably null	Het
Plk4	A	T	3: 40,805,817 (GRCm38)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,643,989 (GRCm38)	L77P	probably damaging	Het
Pnpla6	A	T	8: 3,542,370 (GRCm38)	T1209S	probably benign	Het
Prdm2	A	G	4: 143,132,509 (GRCm38)	S1404P	possibly damaging	Het
Preb	T	C	5: 30,958,813 (GRCm38)	D150G	probably damaging	Het
Prrt2	A	G	7: 127,018,730 (GRCm38)	V59A	probably benign	Het
Prss40	T	C	1: 34,558,014 (GRCm38)	N151S	possibly damaging	Het
Ptprt	A	G	2: 161,766,321 (GRCm38)	V685A	possibly damaging	Het
Ptprt	G	T	2: 161,558,898 (GRCm38)	A1053D	probably damaging	Het
Rfx4	C	T	10: 84,896,088 (GRCm38)	S549F	possibly damaging	Het
Rnaset2b	T	A	17: 6,996,477 (GRCm38)	V87E	probably benign	Het
Rnf213	G	A	11: 119,441,107 (GRCm38)	E2381K	probably damaging	Het
Sectm1a	A	T	11: 121,069,680 (GRCm38)	I103N	probably damaging	Het
Selp	T	A	1: 164,142,758 (GRCm38)	L597Q	probably damaging	Het
Sema6a	T	C	18: 47,300,142 (GRCm38)	D74G	probably damaging	Het
Serpinb9b	T	C	13: 33,029,559 (GRCm38)	V33A	probably benign	Het
Setd1b	A	T	5: 123,147,706 (GRCm38)	T272S	unknown	Het
Sgf29	G	C	7: 126,649,477 (GRCm38)		probably null	Het
Slc4a10	C	A	2: 62,268,204 (GRCm38)	Q561K	probably damaging	Het
Slc4a5	T	C	6: 83,273,232 (GRCm38)	I649T	possibly damaging	Het
Slc5a7	A	G	17: 54,293,835 (GRCm38)	Y91H	probably damaging	Het
Styxl1	T	C	5: 135,757,122 (GRCm38)	Y23C	probably damaging	Het
Tbc1d24	A	G	17: 24,206,872 (GRCm38)	V490A	possibly damaging	Het
Tbpl2	A	T	2: 24,094,732 (GRCm38)	F133L	probably benign	Het
Tcrg-C3	C	A	13: 19,260,994 (GRCm38)	F37L	probably damaging	Het
Tnfrsf22	T	C	7: 143,638,389 (GRCm38)		probably benign	Het
Top2b	A	G	14: 16,398,916 (GRCm38)	E512G	probably damaging	Het
Ttc17	T	A	2: 94,364,345 (GRCm38)	H561L	probably benign	Het
Ttll4	G	T	1: 74,685,368 (GRCm38)	V566L	possibly damaging	Het
Ubqlnl	A	G	7: 104,148,485 (GRCm38)	Y602H	probably benign	Het
Vmn1r231	T	A	17: 20,889,950 (GRCm38)	E234D	probably damaging	Het
Wbp11	A	G	6: 136,820,585 (GRCm38)	S279P	probably damaging	Het
Wdr6	A	G	9: 108,576,534 (GRCm38)	L50P	probably damaging	Het
Zfp715	A	C	7: 43,298,649 (GRCm38)	I629S	possibly damaging	Het

Other mutations in Fzr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Fzr1	APN	10	81,370,525 (GRCm38)	nonsense	probably null
IGL02541:Fzr1	APN	10	81,370,033 (GRCm38)	missense	probably damaging	0.98
IGL03327:Fzr1	APN	10	81,369,184 (GRCm38)	missense	probably benign	0.05
IGL03346:Fzr1	APN	10	81,369,184 (GRCm38)	missense	probably benign	0.05
PIT4445001:Fzr1	UTSW	10	81,369,394 (GRCm38)	nonsense	probably null
R0179:Fzr1	UTSW	10	81,369,070 (GRCm38)	splice site	probably benign
R0403:Fzr1	UTSW	10	81,369,368 (GRCm38)	missense	possibly damaging	0.95
R1591:Fzr1	UTSW	10	81,370,367 (GRCm38)	missense	possibly damaging	0.75
R2358:Fzr1	UTSW	10	81,367,640 (GRCm38)	critical splice donor site	probably null
R2844:Fzr1	UTSW	10	81,369,418 (GRCm38)	missense	probably damaging	1.00
R4657:Fzr1	UTSW	10	81,367,552 (GRCm38)	critical splice acceptor site	probably null
R5054:Fzr1	UTSW	10	81,371,419 (GRCm38)	utr 5 prime	probably benign
R5108:Fzr1	UTSW	10	81,369,450 (GRCm38)	splice site	probably benign
R5201:Fzr1	UTSW	10	81,367,528 (GRCm38)	missense	probably damaging	1.00
R5494:Fzr1	UTSW	10	81,371,344 (GRCm38)	critical splice donor site	probably null
R5663:Fzr1	UTSW	10	81,370,526 (GRCm38)	missense	probably benign	0.00
R5733:Fzr1	UTSW	10	81,370,326 (GRCm38)	missense	possibly damaging	0.95
R5997:Fzr1	UTSW	10	81,370,826 (GRCm38)	critical splice acceptor site	probably null
R6777:Fzr1	UTSW	10	81,370,493 (GRCm38)	missense	probably damaging	1.00
R7055:Fzr1	UTSW	10	81,370,223 (GRCm38)	missense	probably damaging	1.00
R7078:Fzr1	UTSW	10	81,368,629 (GRCm38)	missense	probably damaging	1.00
R7883:Fzr1	UTSW	10	81,368,635 (GRCm38)	missense	probably damaging	1.00
R8374:Fzr1	UTSW	10	81,367,534 (GRCm38)	missense	probably damaging	1.00
R8428:Fzr1	UTSW	10	81,371,108 (GRCm38)	missense	probably damaging	0.99
R9149:Fzr1	UTSW	10	81,369,415 (GRCm38)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GATCAGTCAGACTTCCCATGG -3'
(R):5'- CAGTATTCCCTCAGCAGCAAG -3'

Sequencing Primer
(F):5'- TCAGACTTCCCATGGAGGAACATG -3'
(R):5'- ATGATGGCAATGACGTGTCCC -3'

Posted On

2014-08-25