Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03372:Fezf1'

420343

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fezf1

Ensembl Gene

ENSMUSG00000029697

Gene Name

Fez family zinc finger 1

Synonyms

3110069A13Rik, Zfp312-like, Fez

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03372

Quality Score

Status

Chromosome

Chromosomal Location

23245043-23248361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23246909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 308 (I308V)

Ref Sequence

ENSEMBL: ENSMUSP00000031709 (fasta)

Gene Model

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

AlphaFold

Q0VDQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031709
AA Change: I308V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: I308V

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

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	C	T	4: 129,911,362 (GRCm39)	A1161V	probably benign	Het
Alpi	A	G	1: 87,028,350 (GRCm39)		probably benign	Het
Asxl1	A	T	2: 153,242,333 (GRCm39)	N961I	probably damaging	Het
Bcl2l10	A	G	9: 75,255,329 (GRCm39)	I49V	probably benign	Het
Bod1l	T	C	5: 41,962,578 (GRCm39)		probably benign	Het
Ccl20	A	G	1: 83,095,597 (GRCm39)	M54V	probably benign	Het
Cep72	A	C	13: 74,191,637 (GRCm39)	L200V	possibly damaging	Het
Clic4	T	C	4: 134,945,925 (GRCm39)	D164G	probably damaging	Het
Col5a3	G	A	9: 20,686,624 (GRCm39)	P1334S	unknown	Het
Dab2	T	C	15: 6,459,030 (GRCm39)	L293P	probably damaging	Het
Ddx50	A	T	10: 62,479,109 (GRCm39)	S140T	probably benign	Het
Dnah6	A	T	6: 73,052,833 (GRCm39)	M2897K	probably benign	Het
Dnmt3a	A	G	12: 3,952,666 (GRCm39)	E721G	probably damaging	Het
Esyt3	A	T	9: 99,218,109 (GRCm39)		probably benign	Het
Fat4	G	T	3: 38,943,283 (GRCm39)	K725N	possibly damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gapdhs	T	C	7: 30,432,674 (GRCm39)		probably benign	Het
Gm10109	A	T	7: 43,871,126 (GRCm39)		probably benign	Het
Gpd2	G	A	2: 57,245,519 (GRCm39)	V405I	probably damaging	Het
Gtf2e1	T	C	16: 37,356,077 (GRCm39)		probably benign	Het
Iqca1	A	G	1: 90,072,691 (GRCm39)	I63T	possibly damaging	Het
Kcmf1	A	C	6: 72,826,546 (GRCm39)	L161R	probably damaging	Het
Kif19a	G	T	11: 114,670,044 (GRCm39)	V80L	probably damaging	Het
Kif21a	A	T	15: 90,840,579 (GRCm39)	M1179K	probably benign	Het
Krtap19-2	A	G	16: 88,670,774 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,840,783 (GRCm39)	I575N	possibly damaging	Het
L3mbtl1	A	T	2: 162,813,077 (GRCm39)		probably benign	Het
Larp1b	A	T	3: 40,978,962 (GRCm39)	H6L	possibly damaging	Het
Map4k2	T	A	19: 6,392,279 (GRCm39)		probably benign	Het
Mdh1b	T	C	1: 63,759,154 (GRCm39)	H146R	possibly damaging	Het
Morc2a	T	C	11: 3,631,813 (GRCm39)		probably benign	Het
Mvd	A	G	8: 123,170,113 (GRCm39)		probably benign	Het
Myo7b	C	T	18: 32,131,654 (GRCm39)	S514N	probably damaging	Het
Nav1	A	T	1: 135,378,641 (GRCm39)	I1610K	probably damaging	Het
Nbas	T	C	12: 13,584,473 (GRCm39)	L2095P	probably damaging	Het
Nrros	T	C	16: 31,963,588 (GRCm39)	N115S	probably damaging	Het
Or5p52	T	C	7: 107,502,577 (GRCm39)	Y218H	probably damaging	Het
Otud6b	A	C	4: 14,812,519 (GRCm39)	I276R	possibly damaging	Het
P2rx6	G	A	16: 17,385,356 (GRCm39)	E150K	probably damaging	Het
Pan2	T	A	10: 128,150,996 (GRCm39)	L771Q	probably benign	Het
Pbrm1	T	A	14: 30,806,976 (GRCm39)	N1087K	probably benign	Het
Pcdhb5	G	T	18: 37,453,713 (GRCm39)	R31L	probably benign	Het
Proser3	A	C	7: 30,242,993 (GRCm39)	S195A	probably damaging	Het
Rad50	T	C	11: 53,586,121 (GRCm39)	K292E	probably benign	Het
Rbm27	G	A	18: 42,438,781 (GRCm39)	R394H	probably damaging	Het
Samd9l	A	G	6: 3,375,314 (GRCm39)	I649T	probably damaging	Het
Skint3	G	A	4: 112,113,103 (GRCm39)		probably benign	Het
Slc4a4	T	A	5: 89,304,285 (GRCm39)	L576Q	probably damaging	Het
Snx2	A	G	18: 53,349,463 (GRCm39)	D408G	probably damaging	Het
Taar2	T	C	10: 23,817,069 (GRCm39)	V203A	probably benign	Het
Tdrd6	C	T	17: 43,936,459 (GRCm39)	V1530M	probably damaging	Het
Tsc2	A	C	17: 24,838,444 (GRCm39)	L515R	probably damaging	Het
Unc13a	A	T	8: 72,108,353 (GRCm39)	M500K	probably damaging	Het
Vmn1r75	A	G	7: 11,614,496 (GRCm39)	D76G	probably benign	Het
Whrn	T	C	4: 63,336,855 (GRCm39)	D127G	probably damaging	Het

Other mutations in Fezf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Fezf1	APN	6	23,247,842 (GRCm39)	missense	possibly damaging	0.76
IGL02538:Fezf1	APN	6	23,246,557 (GRCm39)	missense	probably damaging	1.00
IGL02983:Fezf1	APN	6	23,247,871 (GRCm39)	missense	probably damaging	0.99
R0494:Fezf1	UTSW	6	23,246,054 (GRCm39)	missense	probably damaging	1.00
R0612:Fezf1	UTSW	6	23,247,028 (GRCm39)	missense	probably damaging	1.00
R0836:Fezf1	UTSW	6	23,246,998 (GRCm39)	missense	probably benign	0.01
R1930:Fezf1	UTSW	6	23,246,906 (GRCm39)	missense	probably damaging	1.00
R1931:Fezf1	UTSW	6	23,246,906 (GRCm39)	missense	probably damaging	1.00
R2103:Fezf1	UTSW	6	23,247,331 (GRCm39)	missense	possibly damaging	0.55
R2104:Fezf1	UTSW	6	23,247,331 (GRCm39)	missense	possibly damaging	0.55
R2233:Fezf1	UTSW	6	23,246,002 (GRCm39)	missense	probably damaging	1.00
R3404:Fezf1	UTSW	6	23,247,283 (GRCm39)	missense	probably benign	0.13
R3950:Fezf1	UTSW	6	23,247,419 (GRCm39)	nonsense	probably null
R4209:Fezf1	UTSW	6	23,246,616 (GRCm39)	missense	probably damaging	0.99
R4400:Fezf1	UTSW	6	23,247,709 (GRCm39)	missense	probably benign	0.22
R4614:Fezf1	UTSW	6	23,247,857 (GRCm39)	missense	possibly damaging	0.71
R5287:Fezf1	UTSW	6	23,248,010 (GRCm39)	missense	probably benign
R5878:Fezf1	UTSW	6	23,247,580 (GRCm39)	missense	possibly damaging	0.71
R5943:Fezf1	UTSW	6	23,246,948 (GRCm39)	nonsense	probably null
R5952:Fezf1	UTSW	6	23,247,427 (GRCm39)	missense	probably benign	0.08
R6663:Fezf1	UTSW	6	23,247,527 (GRCm39)	missense	probably damaging	1.00
R7158:Fezf1	UTSW	6	23,245,789 (GRCm39)	missense	probably benign
R7184:Fezf1	UTSW	6	23,247,835 (GRCm39)	missense	probably benign	0.31
R8679:Fezf1	UTSW	6	23,247,769 (GRCm39)	missense	probably benign
R9137:Fezf1	UTSW	6	23,246,511 (GRCm39)	splice site	probably benign
R9294:Fezf1	UTSW	6	23,245,797 (GRCm39)	missense	possibly damaging	0.96
R9510:Fezf1	UTSW	6	23,247,845 (GRCm39)	missense	probably benign	0.01
R9668:Fezf1	UTSW	6	23,247,574 (GRCm39)	missense	probably benign	0.00
X0025:Fezf1	UTSW	6	23,247,908 (GRCm39)	missense	probably benign

Posted On

2016-08-02