Mutagenetix > Incidental Mutations

Incidental Mutation 'R2104:Fezf1'

230782

Institutional Source

Beutler Lab

Gene Symbol

Fezf1

Ensembl Gene

ENSMUSG00000029697

Gene Name

Fez family zinc finger 1

Synonyms

Zfp312-like, 3110069A13Rik, Fez

MMRRC Submission

040108-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2104 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23245044-23248362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23247332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 248 (F248S)

Ref Sequence

ENSEMBL: ENSMUSP00000031709 (fasta)

Gene Model

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

AlphaFold

Q0VDQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031709
AA Change: F248S

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: F248S

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

0.0964

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,784,304	V563I	probably benign	Het
Amer3	T	C	1: 34,588,678	V666A	probably benign	Het
Ankrd16	A	G	2: 11,779,900		probably benign	Het
Ankub1	G	T	3: 57,672,875	C120*	probably null	Het
Arhgap31	T	C	16: 38,625,579	I135V	probably benign	Het
Atp2c2	G	A	8: 119,749,845	G633D	probably benign	Het
Camta1	T	A	4: 151,453,294	Q143L	probably damaging	Het
Casp8ap2	T	C	4: 32,644,727	S1267P	probably benign	Het
Ccdc109b	T	A	3: 129,918,688	R179S	probably benign	Het
Cdh1	T	A	8: 106,653,759		probably benign	Het
Cdhr4	C	A	9: 107,996,261	D397E	probably damaging	Het
Cdk6	T	G	5: 3,344,387	S7R	probably benign	Het
Cilp2	C	A	8: 69,882,792	E519*	probably null	Het
Clybl	A	G	14: 122,311,306	Y40C	probably damaging	Het
Col4a3bp	T	A	13: 96,634,886	N550K	probably damaging	Het
Ctnnal1	T	C	4: 56,812,329	*732W	probably null	Het
Ctns	A	T	11: 73,193,081	S38R	probably benign	Het
Cwh43	A	T	5: 73,421,530	K293N	possibly damaging	Het
Dcaf5	G	T	12: 80,338,861	D830E	probably benign	Het
Dmxl2	A	G	9: 54,415,564	V1512A	probably damaging	Het
Dnah9	A	T	11: 66,061,124	C1850S	probably damaging	Het
Dpp8	C	T	9: 65,074,567		probably null	Het
Enam	A	T	5: 88,501,787	Q385L	probably damaging	Het
Etv3	A	G	3: 87,536,062	T318A	possibly damaging	Het
Exd2	T	G	12: 80,496,801	I586S	probably benign	Het
Fat3	A	G	9: 15,998,517	V2063A	possibly damaging	Het
Flnc	T	C	6: 29,450,735		probably null	Het
Foxc2	A	G	8: 121,118,080	Y489C	probably damaging	Het
Gfm2	A	G	13: 97,171,520	E540G	probably damaging	Het
Hrg	T	C	16: 22,956,199	I193T	probably benign	Het
Ifih1	G	A	2: 62,610,545	Q426*	probably null	Het
Ifit1bl2	T	A	19: 34,619,520	D232V	probably benign	Het
Igf2bp1	A	G	11: 95,975,296	V122A	probably damaging	Het
Inpp1	T	G	1: 52,799,418	Q24P	probably damaging	Het
Kifc2	A	G	15: 76,661,254	D67G	probably damaging	Het
Lrrc43	G	A	5: 123,501,114	G402D	probably benign	Het
Lrrc8c	C	T	5: 105,607,358	T333M	possibly damaging	Het
Mab21l3	G	T	3: 101,823,428	A165D	probably benign	Het
Mdfi	G	C	17: 47,824,637	A56G	possibly damaging	Het
Mdn1	A	T	4: 32,743,843		probably null	Het
Meox2	A	G	12: 37,167,477	T226A	probably damaging	Het
Mipol1	A	G	12: 57,306,056		probably null	Het
Mms22l	T	G	4: 24,591,084	N1018K	probably benign	Het
Mn1	T	C	5: 111,454,751	I1285T	possibly damaging	Het
Muc20	T	G	16: 32,794,177	S277R	probably damaging	Het
Muc6	C	A	7: 141,634,078	V2845L	probably benign	Het
Mup5	C	A	4: 61,833,725	G96C	probably damaging	Het
Neb	C	A	2: 52,271,558	R2074L	probably damaging	Het
Neb	T	A	2: 52,256,814	M2813L	probably benign	Het
Oasl2	A	T	5: 114,911,002	K168*	probably null	Het
Olfr774	T	C	10: 129,238,499	S117P	probably damaging	Het
P2rx2	C	T	5: 110,341,141	D203N	probably damaging	Het
Ptprg	T	C	14: 11,952,897		probably null	Het
Rims4	C	T	2: 163,864,865		probably null	Het
Rtn4ip1	T	A	10: 43,932,406	W60R	probably benign	Het
Sccpdh	T	C	1: 179,670,597	S69P	probably benign	Het
Serpina3b	T	A	12: 104,138,810	I415N	probably benign	Het
Slc22a4	T	C	11: 53,983,610		probably benign	Het
Slc4a5	G	A	6: 83,297,378	A1076T	probably benign	Het
Slit1	T	C	19: 41,602,247	K1329E	possibly damaging	Het
Synj2bp	A	C	12: 81,502,052	F138V	probably benign	Het
Taar7a	T	C	10: 23,993,061	I141V	probably damaging	Het
Tas1r3	T	C	4: 155,862,131	E339G	probably benign	Het
Tep1	A	G	14: 50,850,580		probably benign	Het
Tgds	A	T	14: 118,121,737	Y146*	probably null	Het
Tgm3	G	A	2: 130,037,483	V332I	probably benign	Het
Tnnt2	A	G	1: 135,843,809		probably benign	Het
Top1	T	A	2: 160,704,819	Y340N	probably damaging	Het
Topbp1	T	C	9: 103,317,982		probably benign	Het
Tpst1	A	G	5: 130,102,361	N224S	probably benign	Het
Traf4	A	G	11: 78,160,014	F439L	probably damaging	Het
Trim58	A	G	11: 58,643,138		probably benign	Het
Tspan31	T	C	10: 127,068,135	N205S	probably damaging	Het
Ube3a	T	A	7: 59,276,477	N334K	possibly damaging	Het
Ugt2a3	A	T	5: 87,329,682		probably null	Het
Vwf	G	A	6: 125,646,330	V1797I	probably benign	Het
Wdr81	G	T	11: 75,452,983	P486Q	probably damaging	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Wisp1	A	G	15: 66,919,327	E326G	probably benign	Het
Yipf7	T	A	5: 69,521,119	N56I	possibly damaging	Het
Zfp523	A	T	17: 28,195,216	T75S	probably benign	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
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
R5287:Fezf1	UTSW	6	23248011	missense	probably benign
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'- CGGAAGCACAGATTGGATCC -3'
(R):5'- TCTTCGTTTCACGCCATGGG -3'

Sequencing Primer
(F):5'- GGGGGCAAAACAAGTTTATACTTCC -3'
(R):5'- TGCTACCTGAACCGAGGTGAC -3'

Posted On

2014-09-18