Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02541:Fzr1'

298232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fzr1

Ensembl Gene

ENSMUSG00000020235

Gene Name

fizzy and cell division cycle 20 related 1

Synonyms

Fyr, Cdh1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02541

Quality Score

Status

Chromosome

Chromosomal Location

81202713-81214204 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81205867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 220 (T220A)

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: T220A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020457
Gene: ENSMUSG00000020235
AA Change: T220A

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

possibly damaging
Transcript: ENSMUST00000118812
AA Change: T131A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112868
Gene: ENSMUSG00000020235
AA Change: T131A

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

probably benign
Transcript: ENSMUST00000140901
AA Change: T220A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114203
Gene: ENSMUSG00000020235
AA Change: T220A

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,113,881 (GRCm39)	L917F	possibly damaging	Het
Abca6	A	T	11: 110,103,093 (GRCm39)	W833R	probably damaging	Het
Asb15	T	A	6: 24,566,265 (GRCm39)	V406D	probably damaging	Het
Bcl9l	T	C	9: 44,419,066 (GRCm39)	V968A	probably benign	Het
Bend7	T	C	2: 4,768,116 (GRCm39)		probably null	Het
Cadm2	C	A	16: 66,679,770 (GRCm39)	G21V	possibly damaging	Het
Cadm2	C	A	16: 66,679,771 (GRCm39)		probably null	Het
Camta1	G	A	4: 151,169,112 (GRCm39)	T1191I	probably benign	Het
Cep152	C	T	2: 125,447,274 (GRCm39)	A425T	probably damaging	Het
Cep95	C	A	11: 106,706,407 (GRCm39)	Q554K	probably damaging	Het
Cgref1	A	G	5: 31,091,502 (GRCm39)		probably null	Het
Clock	T	A	5: 76,410,519 (GRCm39)		probably null	Het
Cmc2	A	G	8: 117,620,883 (GRCm39)	F33L	probably benign	Het
Cnksr3	A	G	10: 7,085,073 (GRCm39)	V258A	probably damaging	Het
Col6a6	G	T	9: 105,609,415 (GRCm39)	N1624K	probably benign	Het
Cped1	T	C	6: 22,120,988 (GRCm39)	I356T	probably benign	Het
Dpy19l2	C	T	9: 24,569,943 (GRCm39)	V337I	probably benign	Het
E2f3	A	T	13: 30,100,827 (GRCm39)		probably null	Het
Eif1ad	A	G	19: 5,418,445 (GRCm39)		probably benign	Het
Fam114a2	A	T	11: 57,390,627 (GRCm39)	D302E	probably benign	Het
Fign	T	C	2: 63,809,881 (GRCm39)	N463S	probably benign	Het
Gm14496	G	A	2: 181,642,186 (GRCm39)	R619Q	probably benign	Het
Gm9966	T	C	7: 95,607,991 (GRCm39)	I104T	unknown	Het
Itgb7	G	T	15: 102,131,892 (GRCm39)	H230Q	probably benign	Het
Kif7	T	C	7: 79,360,628 (GRCm39)	H249R	possibly damaging	Het
Krtap4-2	T	G	11: 99,525,792 (GRCm39)	Q20P	unknown	Het
Mis18bp1	T	C	12: 65,208,234 (GRCm39)	T160A	probably damaging	Het
Mrps9	T	C	1: 42,901,814 (GRCm39)		probably null	Het
Mynn	T	A	3: 30,665,752 (GRCm39)	H461Q	probably damaging	Het
Naa25	A	G	5: 121,562,594 (GRCm39)	T459A	possibly damaging	Het
Niban3	A	T	8: 72,055,426 (GRCm39)	T279S	probably benign	Het
Notch1	C	T	2: 26,358,515 (GRCm39)	D1439N	probably benign	Het
Or2ag2b	A	G	7: 106,417,809 (GRCm39)	E173G	probably benign	Het
Pals2	A	G	6: 50,160,707 (GRCm39)	I323V	probably benign	Het
Pcdhb3	A	T	18: 37,435,198 (GRCm39)	D388V	probably damaging	Het
Pold3	C	T	7: 99,732,879 (GRCm39)	G417S	probably damaging	Het
Pwwp3a	G	A	10: 80,064,273 (GRCm39)		probably null	Het
Rad17	A	G	13: 100,769,951 (GRCm39)		probably benign	Het
Sh3glb1	T	C	3: 144,425,801 (GRCm39)	D5G	probably damaging	Het
Shank3	T	A	15: 89,385,613 (GRCm39)	Y167N	probably damaging	Het
Slc3a2	A	T	19: 8,685,123 (GRCm39)	Y292*	probably null	Het
Slc7a13	T	A	4: 19,839,212 (GRCm39)		probably benign	Het
Snx18	A	T	13: 113,731,302 (GRCm39)	I564N	probably damaging	Het
Supt6	G	A	11: 78,117,744 (GRCm39)	R491C	probably damaging	Het
Tanc1	G	T	2: 59,663,602 (GRCm39)	G1120C	probably damaging	Het
Tnrc6b	C	A	15: 80,764,032 (GRCm39)	D511E	probably benign	Het
Trio	A	G	15: 27,845,016 (GRCm39)		probably benign	Het
Trmt12	T	A	15: 58,745,651 (GRCm39)	W350R	probably benign	Het
Ttc1	T	C	11: 43,629,648 (GRCm39)	T173A	probably benign	Het
Ttc39d	C	A	17: 80,523,875 (GRCm39)	T178K	probably damaging	Het
Ufl1	T	A	4: 25,250,534 (GRCm39)	E693V	possibly damaging	Het
Vamp2	G	T	11: 68,979,977 (GRCm39)	E16D	unknown	Het
Vmn2r-ps158	T	A	7: 42,673,092 (GRCm39)		probably benign	Het
Wdr70	C	T	15: 7,913,783 (GRCm39)	W622*	probably null	Het
Zfp28	C	T	7: 6,396,479 (GRCm39)	Q305*	probably null	Het
Zfp653	C	A	9: 21,967,079 (GRCm39)	R602L	probably damaging	Het
Zzef1	T	A	11: 72,763,475 (GRCm39)	V1374E	probably damaging	Het

Other mutations in Fzr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Fzr1	APN	10	81,206,359 (GRCm39)	nonsense	probably null
IGL03327:Fzr1	APN	10	81,205,018 (GRCm39)	missense	probably benign	0.05
IGL03346:Fzr1	APN	10	81,205,018 (GRCm39)	missense	probably benign	0.05
PIT4445001:Fzr1	UTSW	10	81,205,228 (GRCm39)	nonsense	probably null
R0179:Fzr1	UTSW	10	81,204,904 (GRCm39)	splice site	probably benign
R0403:Fzr1	UTSW	10	81,205,202 (GRCm39)	missense	possibly damaging	0.95
R1591:Fzr1	UTSW	10	81,206,201 (GRCm39)	missense	possibly damaging	0.75
R1987:Fzr1	UTSW	10	81,206,153 (GRCm39)	missense	probably damaging	0.98
R2358:Fzr1	UTSW	10	81,203,474 (GRCm39)	critical splice donor site	probably null
R2844:Fzr1	UTSW	10	81,205,252 (GRCm39)	missense	probably damaging	1.00
R4657:Fzr1	UTSW	10	81,203,386 (GRCm39)	critical splice acceptor site	probably null
R5054:Fzr1	UTSW	10	81,207,253 (GRCm39)	utr 5 prime	probably benign
R5108:Fzr1	UTSW	10	81,205,284 (GRCm39)	splice site	probably benign
R5201:Fzr1	UTSW	10	81,203,362 (GRCm39)	missense	probably damaging	1.00
R5494:Fzr1	UTSW	10	81,207,178 (GRCm39)	critical splice donor site	probably null
R5663:Fzr1	UTSW	10	81,206,360 (GRCm39)	missense	probably benign	0.00
R5733:Fzr1	UTSW	10	81,206,160 (GRCm39)	missense	possibly damaging	0.95
R5997:Fzr1	UTSW	10	81,206,660 (GRCm39)	critical splice acceptor site	probably null
R6777:Fzr1	UTSW	10	81,206,327 (GRCm39)	missense	probably damaging	1.00
R7055:Fzr1	UTSW	10	81,206,057 (GRCm39)	missense	probably damaging	1.00
R7078:Fzr1	UTSW	10	81,204,463 (GRCm39)	missense	probably damaging	1.00
R7883:Fzr1	UTSW	10	81,204,469 (GRCm39)	missense	probably damaging	1.00
R8374:Fzr1	UTSW	10	81,203,368 (GRCm39)	missense	probably damaging	1.00
R8428:Fzr1	UTSW	10	81,206,942 (GRCm39)	missense	probably damaging	0.99
R9149:Fzr1	UTSW	10	81,205,249 (GRCm39)	missense	probably benign	0.14

Posted On

2015-04-16