Mutagenetix > Incidental Mutations

Incidental Mutation 'R4614:Fezf1'

344930

Institutional Source

Beutler Lab

Gene Symbol

Fezf1

Ensembl Gene

ENSMUSG00000029697

Gene Name

Fez family zinc finger 1

Synonyms

Zfp312-like, 3110069A13Rik, Fez

MMRRC Submission

041825-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4614 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23245044-23248362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23247858 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 73 (C73S)

Ref Sequence

ENSEMBL: ENSMUSP00000031709 (fasta)

Gene Model

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

AlphaFold

Q0VDQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031709
AA Change: C73S

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: C73S

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

0.8082

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (95/97)

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
2210408I21Rik	T	G	13: 77,254,256		probably null	Het
4932414N04Rik	C	A	2: 68,745,460	T701K	probably benign	Het
6030419C18Rik	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	9: 58,499,432		probably benign	Het
Abcb11	A	T	2: 69,284,681	H640Q	possibly damaging	Het
Ago2	C	T	15: 73,130,967	V139M	probably damaging	Het
Apol11a	A	T	15: 77,516,572	K86N	probably benign	Het
Ass1	T	C	2: 31,514,783	Y359H	probably damaging	Het
Bpifa3	A	T	2: 154,136,280	N34I	probably damaging	Het
Brwd1	A	T	16: 96,047,359	L540H	probably damaging	Het
C3ar1	G	A	6: 122,850,721	S179F	probably benign	Het
Ccnb1ip1	T	C	14: 50,792,195	T137A	probably benign	Het
Cd5l	A	G	3: 87,368,619	T299A	probably benign	Het
Cdk12	T	A	11: 98,249,777		probably benign	Het
Cep290	T	C	10: 100,508,740	M480T	probably benign	Het
Cep290	G	A	10: 100,559,687	R2112K	possibly damaging	Het
Chn2	G	A	6: 54,290,403	M292I	probably damaging	Het
Cic	TCCCCC	TCCCCCCC	7: 25,291,670		probably null	Het
Cpeb1	A	T	7: 81,436,270	D41E	possibly damaging	Het
Csf2rb2	C	G	15: 78,291,702	C184S	probably damaging	Het
Ctsc	G	A	7: 88,278,375		probably null	Het
Cyp2c40	G	A	19: 39,803,856	S191L	probably damaging	Het
Dagla	T	C	19: 10,248,277	E841G	probably damaging	Het
Dld	A	T	12: 31,333,945	Y386*	probably null	Het
Dpp8	G	A	9: 65,066,396	S634N	probably benign	Het
Duox2	A	T	2: 122,289,557	V824E	probably damaging	Het
Dync2h1	A	C	9: 7,011,290	S3634R	probably benign	Het
Eef1d	T	C	15: 75,903,576	N78S	probably benign	Het
Fcrl5	T	A	3: 87,448,426	I482N	probably damaging	Het
Fgfr1	A	G	8: 25,557,797	D53G	probably benign	Het
Fmn1	T	C	2: 113,365,149	L398S	unknown	Het
Gm17175	T	C	14: 51,571,585	Q108R	probably benign	Het
Gm28042	G	A	2: 120,041,158	G669D	probably damaging	Het
Gm6185	A	G	1: 161,223,099		noncoding transcript	Het
Gucy2g	A	T	19: 55,202,147	C1018*	probably null	Het
H2-Q10	A	T	17: 35,474,020		probably benign	Het
H2-T22	T	G	17: 36,040,537	Q267P	probably benign	Het
Hibadh	A	G	6: 52,546,930	Y328H	possibly damaging	Het
Hsd3b3	T	A	3: 98,742,080	Y309F	probably benign	Het
Ighv1-37	C	T	12: 114,896,243	A116T	probably benign	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Igkv8-21	A	T	6: 70,315,157	S34T	probably benign	Het
Iqch	A	G	9: 63,482,581	M733T	probably benign	Het
Jakmip2	T	A	18: 43,562,592	D539V	probably damaging	Het
Lgi2	A	G	5: 52,538,433	S395P	probably damaging	Het
Lrrc40	A	T	3: 158,054,634	N344I	probably damaging	Het
Ltbp1	G	A	17: 75,289,994		probably benign	Het
Metap1d	C	T	2: 71,524,948	P332L	probably benign	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mis18bp1	T	A	12: 65,153,529		probably benign	Het
Mta2	T	C	19: 8,948,128		probably null	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Muc4	A	G	16: 32,757,058	K241E	probably benign	Het
Mup18	T	A	4: 61,671,917	I125F	possibly damaging	Het
Nfs1	A	G	2: 156,144,050	S31P	probably benign	Het
Olfr38	G	T	6: 42,762,418	R122L	probably benign	Het
Olfr419	A	G	1: 174,250,622	F102L	possibly damaging	Het
Olfr981	T	A	9: 40,022,959	C189S	probably damaging	Het
Otogl	A	T	10: 107,892,124	C245*	probably null	Het
Pcdhb16	G	A	18: 37,480,345	G786D	probably benign	Het
Pdcd5	C	T	7: 35,647,047		probably benign	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Piezo1	A	T	8: 122,486,411	I1871N	probably benign	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Plxnd1	T	C	6: 115,972,525	T767A	possibly damaging	Het
Polr3c	T	G	3: 96,716,471	I322L	probably benign	Het
Ppp1r26	C	A	2: 28,450,848	H163Q	probably benign	Het
Prox1	T	G	1: 190,162,008	Y80S	probably damaging	Het
Pygl	T	C	12: 70,210,979		probably null	Het
Rab23	T	C	1: 33,739,385	V236A	probably benign	Het
Setd2	T	C	9: 110,569,813		probably null	Het
Slc5a7	A	G	17: 54,276,559	S568P	probably benign	Het
Smpd3	A	G	8: 106,259,739	L477P	probably damaging	Het
Spg21	A	G	9: 65,480,389		probably null	Het
Spta1	A	T	1: 174,192,977	I551F	probably damaging	Het
Supt5	A	T	7: 28,325,972	I135N	possibly damaging	Het
Tacstd2	A	G	6: 67,535,186	F174S	probably damaging	Het
Tas1r2	A	T	4: 139,659,787	T186S	probably damaging	Het
Tie1	A	G	4: 118,479,051	Y673H	probably damaging	Het
Tom1l1	A	T	11: 90,671,126	N190K	probably damaging	Het
Tox2	T	C	2: 163,320,647	L479P	probably damaging	Het
Tox4	C	T	14: 52,287,467	T249I	probably damaging	Het
Trmt1l	C	T	1: 151,454,048	Q581*	probably null	Het
Vmn1r49	A	G	6: 90,072,552	V156A	probably benign	Het
Vmn2r13	A	T	5: 109,175,199	F75I	probably benign	Het
Washc2	T	A	6: 116,238,174	S502T	possibly damaging	Het
Wnk4	A	T	11: 101,274,111	E755D	probably benign	Het
Zfp207	T	A	11: 80,395,190		probably benign	Het
Zfp352	A	G	4: 90,225,081	K486R	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
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
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'- CCAGGTCGCCCTTAAGACTTAG -3'
(R):5'- CTCAGTCATGGACAGTAGCTG -3'

Sequencing Primer
(F):5'- CCTTAAGACTTAGCGCGCAGTTG -3'
(R):5'- ATGGACAGTAGCTGCCTCAACG -3'

Posted On

2015-09-25