Mutagenetix > Incidental Mutations

Incidental Mutation 'R5287:Fezf1'

424402

Institutional Source

Beutler Lab

Gene Symbol

Fezf1

Ensembl Gene

ENSMUSG00000029697

Gene Name

Fez family zinc finger 1

Synonyms

Zfp312-like, 3110069A13Rik, Fez

MMRRC Submission

042871-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23245044-23248362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23248011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 22 (V22M)

Ref Sequence

ENSEMBL: ENSMUSP00000031709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031709]

AlphaFold

Q0VDQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000031709
AA Change: V22M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: V22M

Domain	Start	End	E-Value	Type
low complexity region	102	114	N/A	INTRINSIC
ZnF_C2H2	260	282	1.58e-3	SMART
ZnF_C2H2	288	310	3.39e-3	SMART
ZnF_C2H2	316	338	1.38e-3	SMART
ZnF_C2H2	344	366	2.57e-3	SMART
ZnF_C2H2	372	394	2.53e-2	SMART
ZnF_C2H2	400	423	1.38e-3	SMART
low complexity region	441	467	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202489

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that belongs to the zinc finger double domain protein family. The encoded protein is thought to play a role in the embryonic migration of gonadotropin-releasing hormone neurons into the brain. Mutations in this gene are associated with hypogonadotropic hypogonadism-22 with anosmia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a null mutation of this gene display neonatal lethality, impaired olfactory bulb development and impaired olfactory bulb interneuron migration. [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
1700061G19Rik	G	T	17: 56,876,221		probably benign	Het
Accs	T	C	2: 93,835,953	D463G	probably damaging	Het
Adcy8	C	T	15: 64,716,152	V929I	probably benign	Het
Anp32a	A	T	9: 62,341,993	I16F	possibly damaging	Het
Arpin	T	C	7: 79,928,249	E144G	probably damaging	Het
Asb18	T	C	1: 90,014,388	T64A	probably benign	Het
Asxl2	A	G	12: 3,496,893	N559S	probably benign	Het
Brd7	G	T	8: 88,357,541	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,792,964	W336R	probably benign	Het
Btnl9	A	G	11: 49,169,607	V438A	probably benign	Het
Cat	T	C	2: 103,474,360	T107A	probably damaging	Het
Catsperg2	T	C	7: 29,697,838	Y1080C	possibly damaging	Het
Ccdc138	T	A	10: 58,575,705	F632I	possibly damaging	Het
Cd46	C	T	1: 195,062,411	V340I	possibly damaging	Het
Celf1	T	C	2: 91,009,207	S326P	possibly damaging	Het
Ces1e	T	G	8: 93,208,612	D404A	probably benign	Het
Chd3	A	T	11: 69,349,069		probably null	Het
Clhc1	A	G	11: 29,578,244		probably benign	Het
Cops8	C	T	1: 90,606,620		probably benign	Het
Cpox	G	A	16: 58,675,286	G322D	probably damaging	Het
Csmd2	C	T	4: 128,486,884	R2078C	probably benign	Het
Dnm1l	A	C	16: 16,333,868	V240G	probably damaging	Het
Fam109a	A	G	5: 121,852,731	E52G	possibly damaging	Het
Fam196b	A	T	11: 34,403,058	T367S	probably benign	Het
Fam208b	G	A	13: 3,575,744	S1402L	probably benign	Het
Gm6818	T	G	7: 38,400,487		noncoding transcript	Het
Hand2	C	T	8: 57,322,045	L47F	probably damaging	Het
Itga7	C	A	10: 128,943,158	R351S	probably benign	Het
Mmp8	G	T	9: 7,567,506	A456S	probably benign	Het
Mroh5	TGGAG	TG	15: 73,783,074		probably benign	Het
Olfr1416	A	T	1: 92,480,297	V108E	possibly damaging	Het
Opn4	T	C	14: 34,592,937	T460A	probably benign	Het
Otog	T	C	7: 46,269,329	F943S	probably damaging	Het
Pcnx	A	T	12: 81,982,051	Y1668F	probably damaging	Het
Phf24	A	T	4: 42,933,831		probably null	Het
Phkg2	GCTGCCGGACGAGTGGCCT	GCT	7: 127,582,757		probably null	Het
Ppargc1a	G	A	5: 51,462,825		probably benign	Het
Ptprd	G	A	4: 75,954,168	R1355*	probably null	Het
Ptprn2	A	T	12: 117,211,862	M721L	probably damaging	Het
Sec23ip	A	G	7: 128,766,136	E624G	probably benign	Het
Sfmbt1	G	A	14: 30,816,820	V799M	probably damaging	Het
Snrnp200	T	C	2: 127,231,687	V1335A	probably benign	Het
Sp140	G	A	1: 85,610,824		probably null	Het
Spdye4c	T	C	2: 128,592,640	S46P	possibly damaging	Het
Syde1	T	C	10: 78,590,037	R99G	probably benign	Het
T2	A	T	17: 8,418,003	M57L	probably benign	Het
Tfap2e	T	C	4: 126,734,646	I172M	probably benign	Het
Tk1	A	T	11: 117,816,541	V140E	probably damaging	Het
Tln2	G	A	9: 67,242,359	T1192M	probably damaging	Het
Tmed8	C	A	12: 87,174,183	A210S	probably damaging	Het
Tnip2	A	G	5: 34,513,764	L45P	probably damaging	Het
Ttc3	T	C	16: 94,459,844	V1396A	probably benign	Het
Ttn	G	T	2: 76,732,092	S28803Y	probably damaging	Het
Wdr90	A	T	17: 25,861,467		probably benign	Het
Zfp7	G	A	15: 76,891,222	R488Q	probably damaging	Het

Other mutations in Fezf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fezf1	APN	6	23247843	missense	possibly damaging	0.76
IGL02538:Fezf1	APN	6	23246558	missense	probably damaging	1.00
IGL02983:Fezf1	APN	6	23247872	missense	probably damaging	0.99
IGL03372:Fezf1	APN	6	23246910	missense	probably damaging	1.00
R0494:Fezf1	UTSW	6	23246055	missense	probably damaging	1.00
R0612:Fezf1	UTSW	6	23247029	missense	probably damaging	1.00
R0836:Fezf1	UTSW	6	23246999	missense	probably benign	0.01
R1930:Fezf1	UTSW	6	23246907	missense	probably damaging	1.00
R1931:Fezf1	UTSW	6	23246907	missense	probably damaging	1.00
R2103:Fezf1	UTSW	6	23247332	missense	possibly damaging	0.55
R2104:Fezf1	UTSW	6	23247332	missense	possibly damaging	0.55
R2233:Fezf1	UTSW	6	23246003	missense	probably damaging	1.00
R3404:Fezf1	UTSW	6	23247284	missense	probably benign	0.13
R3950:Fezf1	UTSW	6	23247420	nonsense	probably null
R4209:Fezf1	UTSW	6	23246617	missense	probably damaging	0.99
R4400:Fezf1	UTSW	6	23247710	missense	probably benign	0.22
R4614:Fezf1	UTSW	6	23247858	missense	possibly damaging	0.71
R5878:Fezf1	UTSW	6	23247581	missense	possibly damaging	0.71
R5943:Fezf1	UTSW	6	23246949	nonsense	probably null
R5952:Fezf1	UTSW	6	23247428	missense	probably benign	0.08
R6663:Fezf1	UTSW	6	23247528	missense	probably damaging	1.00
R7158:Fezf1	UTSW	6	23245790	missense	probably benign
R7184:Fezf1	UTSW	6	23247836	missense	probably benign	0.31
R8679:Fezf1	UTSW	6	23247770	missense	probably benign
R9294:Fezf1	UTSW	6	23245798	missense	possibly damaging	0.96
X0025:Fezf1	UTSW	6	23247909	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAACCTCCAAACTCGCCTTG -3'
(R):5'- GTGATTGTCCCCGAGTCATTGG -3'

Sequencing Primer
(F):5'- GAGCCATTCACTCCCGC -3'
(R):5'- CAAGAACTCTGCGATGGGCTG -3'

Posted On

2016-08-04