Mutagenetix > Incidental Mutations

Incidental Mutation 'R2103:Fezf1'

230674

Institutional Source

Beutler Lab

Gene Symbol

Fezf1

Ensembl Gene

ENSMUSG00000029697

Gene Name

Fez family zinc finger 1

Synonyms

Zfp312-like, 3110069A13Rik, Fez

MMRRC Submission

040107-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2103 (G1)

Quality Score

225

Status

Not 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: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	A	3: 60,039,814	P311Q	probably damaging	Het
Acoxl	T	A	2: 127,972,606	M314K	probably damaging	Het
Agmat	A	T	4: 141,755,903	D216V	probably damaging	Het
Aida	A	T	1: 183,313,692	E107D	probably benign	Het
Ano5	A	G	7: 51,537,813	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,483,816	D95V	probably damaging	Het
Aspm	G	A	1: 139,491,665	V3023M	probably damaging	Het
Atg16l2	A	G	7: 101,290,361		probably null	Het
B3galt4	G	A	17: 33,950,839	R142C	probably damaging	Het
B3galt5	A	T	16: 96,316,025	K286M	probably damaging	Het
Best3	A	C	10: 117,002,594	I186L	probably benign	Het
Blm	G	T	7: 80,505,949		probably null	Het
Cat	A	T	2: 103,463,315	D389E	probably damaging	Het
Cluh	C	A	11: 74,659,529	C222*	probably null	Het
Cntnap2	G	A	6: 47,298,588	E1325K	probably damaging	Het
Col14a1	A	T	15: 55,449,940	D1320V	unknown	Het
Col4a3bp	T	A	13: 96,634,886	N550K	probably damaging	Het
Cpne7	A	G	8: 123,127,437	K288E	possibly damaging	Het
Cyp26b1	A	G	6: 84,575,050	S369P	possibly damaging	Het
Cyp2j9	T	A	4: 96,571,964	K434M	probably damaging	Het
Dpyd	G	C	3: 119,064,952	S605T	probably benign	Het
Dst	A	G	1: 34,190,258	T1986A	probably benign	Het
Ebf2	T	A	14: 67,387,942	V233D	probably damaging	Het
Ecm2	A	G	13: 49,530,256	D570G	probably benign	Het
Efhc1	T	A	1: 20,989,560	C611*	probably null	Het
Epop	T	C	11: 97,628,654	T210A	probably benign	Het
Fdxacb1	A	T	9: 50,771,646	N101I	probably benign	Het
Galnt16	A	G	12: 80,583,656	D262G	probably damaging	Het
Gm9507	T	A	10: 77,811,666		probably benign	Het
Grin2b	A	T	6: 135,780,140	I441N	probably benign	Het
H2-Eb2	A	G	17: 34,334,304	I155V	probably benign	Het
Hectd4	C	A	5: 121,355,629	D3811E	probably benign	Het
Herc4	T	C	10: 63,246,110	S71P	probably benign	Het
Hhipl1	A	G	12: 108,327,718	T628A	probably benign	Het
Hoga1	A	C	19: 42,060,020		probably null	Het
Igf2bp1	A	G	11: 95,975,296	V122A	probably damaging	Het
Il10ra	C	A	9: 45,255,811	A481S	probably benign	Het
Klk1b26	A	T	7: 44,016,900	T256S	probably damaging	Het
Kndc1	C	T	7: 139,921,234	T813I	probably benign	Het
Limch1	A	G	5: 66,998,729	K394R	probably benign	Het
Lrrc37a	T	C	11: 103,500,261	E1446G	probably benign	Het
Lrrc47	C	T	4: 154,015,893	R287W	probably damaging	Het
Mdn1	T	A	4: 32,738,712	L3555Q	possibly damaging	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Mei1	G	T	15: 82,107,036	V472F	probably damaging	Het
Mrps34	T	A	17: 24,895,490		probably null	Het
Myom3	A	G	4: 135,776,412	T391A	probably benign	Het
Nfib	G	A	4: 82,330,408	T314I	possibly damaging	Het
Olfr1451	T	C	19: 12,999,502	V172A	possibly damaging	Het
Olfr459	A	G	6: 41,772,005	I98T	probably benign	Het
Olfr498	A	G	7: 108,465,603	N93S	probably benign	Het
Olfr774	T	C	10: 129,238,499	S117P	probably damaging	Het
Pdia3	G	C	2: 121,433,993	G346A	probably damaging	Het
Plce1	T	C	19: 38,777,924	F2117S	probably damaging	Het
Plec	A	G	15: 76,173,543	F4055L	probably damaging	Het
Ppip5k1	A	T	2: 121,321,653		probably null	Het
Psma6	T	C	12: 55,408,057	I57T	probably benign	Het
Psme2	A	T	14: 55,590,840		probably null	Het
Reln	A	T	5: 21,969,360	D1948E	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Het
Sbno1	G	T	5: 124,393,937	S727R	probably damaging	Het
Serpina3m	C	A	12: 104,389,699	Y208*	probably null	Het
Serpind1	T	C	16: 17,342,944	V446A	probably benign	Het
Shc3	T	A	13: 51,442,836	M384L	probably benign	Het
Slc38a11	A	G	2: 65,330,339	F304L	probably benign	Het
Slc4a5	A	C	6: 83,224,681	D4A	probably benign	Het
Slc4a5	G	A	6: 83,297,378	A1076T	probably benign	Het
Slpi	C	T	2: 164,355,543	C28Y	probably damaging	Het
Sptan1	T	C	2: 30,030,471	S2320P	probably damaging	Het
Stim2	A	G	5: 54,105,249	T278A	possibly damaging	Het
Sympk	T	A	7: 19,054,116	S1186T	probably benign	Het
Tbrg1	T	C	9: 37,649,419	D387G	probably benign	Het
Tns2	A	T	15: 102,112,665		probably null	Het
Tnxb	A	G	17: 34,682,251	Y1013C	probably damaging	Het
Tpsg1	T	C	17: 25,373,293	S41P	possibly damaging	Het
Trim36	T	C	18: 46,196,082	N85S	probably benign	Het
Trpm6	A	T	19: 18,796,284	H380L	probably benign	Het
Tssk4	A	G	14: 55,651,540	I174M	probably damaging	Het
Ttn	C	T	2: 76,946,391		probably null	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r4	T	A	3: 64,415,283	N5I	possibly damaging	Het
Vps11	G	A	9: 44,359,227	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,467,468	T476A	possibly damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Vwf	G	A	6: 125,646,330	V1797I	probably benign	Het
Wasl	A	T	6: 24,618,378	S447T	unknown	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Zfp874a	T	A	13: 67,442,504	I354F	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
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
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