Mutagenetix > Incidental Mutations

Incidental Mutation 'R4400:Fezf1'

326583

Institutional Source

Beutler Lab

Gene Symbol

Fezf1

Ensembl Gene

ENSMUSG00000029697

Gene Name

Fez family zinc finger 1

Synonyms

Zfp312-like, 3110069A13Rik, Fez

MMRRC Submission

041131-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4400 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23245044-23248362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23247710 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 122 (N122S)

Ref Sequence

ENSEMBL: ENSMUSP00000031709 (fasta)

Gene Model

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

AlphaFold

Q0VDQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000031709
AA Change: N122S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: N122S

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.3%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp4b	A	G	8: 13,388,810	F189L	probably damaging	Het
Atp8a1	A	T	5: 67,764,878	Y372N	probably benign	Het
Bves	T	C	10: 45,369,293	V354A	probably benign	Het
Cd79b	A	T	11: 106,312,010	Y195*	probably null	Het
Cog6	A	C	3: 53,012,941	D131E	probably benign	Het
Elp3	C	T	14: 65,548,090	E421K	possibly damaging	Het
Fbxw28	A	T	9: 109,328,310	F237Y	probably damaging	Het
Galnt2	A	G	8: 124,324,303	K157E	probably damaging	Het
Git2	T	C	5: 114,733,909	E141G	possibly damaging	Het
Gm26888	T	C	11: 119,154,027		silent	Het
Gnrhr	T	C	5: 86,182,249		probably null	Het
Hoxd13	A	T	2: 74,670,015	D300V	probably damaging	Het
Hspg2	G	A	4: 137,548,122	A2748T	probably benign	Het
Hyal2	A	G	9: 107,570,853	N235S	probably damaging	Het
Itgam	T	G	7: 128,081,658	L253R	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Matr3	A	T	18: 35,583,916	K591N	possibly damaging	Het
Mep1a	T	A	17: 43,475,006	I731F	possibly damaging	Het
Mkl1	G	A	15: 81,020,923	Q103*	probably null	Het
Muc5b	A	G	7: 141,861,387	D2690G	possibly damaging	Het
Nlrc5	A	G	8: 94,494,353	Q1140R	probably benign	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr292	A	G	7: 86,694,590	I45V	probably benign	Het
Olfr711	A	G	7: 106,972,002	L114P	probably damaging	Het
Plcl1	T	C	1: 55,715,577	F1028L	probably damaging	Het
Plpp2	A	G	10: 79,527,493	V106A	possibly damaging	Het
Prpf8	A	G	11: 75,490,702	T255A	possibly damaging	Het
Shoc2	A	G	19: 54,031,229	I568V	probably benign	Het
Spopl	C	T	2: 23,517,945	V241M	probably damaging	Het
Ssrp1	A	T	2: 85,037,941	D9V	probably damaging	Het
Strn3	A	T	12: 51,648,100	D293E	possibly damaging	Het
Tbx3	G	T	5: 119,680,571	D404Y	probably damaging	Het
Tdrd7	T	C	4: 46,005,540	S416P	possibly damaging	Het
Trim60	G	T	8: 65,001,212	Y128*	probably null	Het
Tspoap1	T	C	11: 87,775,603	S947P	probably damaging	Het
Ttn	A	T	2: 76,782,395	S17113R	probably damaging	Het
Ubqln1	T	A	13: 58,193,388	N183I	probably damaging	Het
Ubr4	A	G	4: 139,461,856	N3917D	possibly damaging	Het
Ucp2	A	G	7: 100,499,350	*310W	probably null	Het
Wdr76	A	G	2: 121,528,833	M218V	probably damaging	Het
Zranb3	A	C	1: 127,956,655	L998R	possibly damaging	Het
Zxdc	G	A	6: 90,369,810	G51E	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
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'- CGGCTAAATACGTTTTGGGC -3'
(R):5'- GCATCTCAACTCGTCGATCC -3'

Sequencing Primer
(F):5'- CTGAGAAAGTAGGAGGCCACC -3'
(R):5'- AACTCGTCGATCCCCTGCATG -3'

Posted On

2015-07-07