Mutagenetix > Incidental Mutations

Incidental Mutation 'R4209:Fezf1'

319063

Institutional Source

Beutler Lab

Gene Symbol

Fezf1

Ensembl Gene

ENSMUSG00000029697

Gene Name

Fez family zinc finger 1

Synonyms

Zfp312-like, 3110069A13Rik, Fez

MMRRC Submission

041038-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4209 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23245044-23248362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23246617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 323 (K323E)

Ref Sequence

ENSEMBL: ENSMUSP00000031709 (fasta)

Gene Model

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

AlphaFold

Q0VDQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031709
AA Change: K323E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: K323E

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

0.4753

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

98% (45/46)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 9,002,600	G416D	probably damaging	Het
Ap3b2	C	A	7: 81,477,136	A289S	probably benign	Het
Arhgap23	C	A	11: 97,454,496	T657K	probably damaging	Het
Bcl9	A	G	3: 97,209,953	L475P	probably damaging	Het
Bean1	T	A	8: 104,213,934	M1K	probably null	Het
Cand1	T	A	10: 119,211,558	I676F	probably benign	Het
Casp3	G	T	8: 46,635,388	D107Y	probably damaging	Het
Cops4	T	A	5: 100,547,486		probably benign	Het
Dchs1	A	T	7: 105,766,190	D626E	probably damaging	Het
Dpysl2	T	C	14: 66,815,477	S308G	probably damaging	Het
Gm10272	T	C	10: 77,706,831	V69A	possibly damaging	Het
Gm8298	A	T	3: 59,877,156	Y350F	probably damaging	Het
Gtf2f1	A	G	17: 57,011,003	V11A	probably benign	Het
Hnf4a	T	C	2: 163,568,889	S378P	probably benign	Het
Inpp5j	T	G	11: 3,501,107	H514P	probably damaging	Het
Irf8	T	A	8: 120,753,469	Y149N	probably damaging	Het
Kel	C	T	6: 41,698,425	W297*	probably null	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mcpt8	G	A	14: 56,083,918	H30Y	probably damaging	Het
Mycl	G	T	4: 122,999,922	V172L	possibly damaging	Het
Pcgf5	C	A	19: 36,437,340	N26K	possibly damaging	Het
Ppp2r2a	A	G	14: 67,028,879	L111S	probably damaging	Het
Prdm2	T	C	4: 143,134,437	D761G	probably damaging	Het
Sec11a	A	T	7: 80,935,042	I49N	probably damaging	Het
Sesn3	T	C	9: 14,306,209	I30T	probably benign	Het
Slc22a21	A	G	11: 53,956,055	S331P	probably benign	Het
Slc38a3	T	G	9: 107,655,348	S358R	possibly damaging	Het
Slc9a5	A	G	8: 105,358,471	N535D	possibly damaging	Het
Spns2	T	C	11: 72,454,186	D492G	probably benign	Het
Tcn2	T	C	11: 3,922,114	K338E	possibly damaging	Het
Tdp1	C	A	12: 99,898,329	A243E	probably damaging	Het
Tex16	T	A	X: 112,120,943	D1046E	probably benign	Het
Tmem120a	T	C	5: 135,735,705	N340S	probably benign	Het
Tnik	A	T	3: 28,359,065		probably benign	Het
Trim36	A	G	18: 46,196,124	L71P	probably benign	Het
Tube1	A	G	10: 39,144,934		probably null	Het
Urgcp	C	A	11: 5,715,878	G820V	probably damaging	Het
Veph1	A	T	3: 66,244,546	L154Q	probably damaging	Het
Vmn1r113	T	C	7: 20,787,610	V109A	probably benign	Het
Vmn1r152	A	T	7: 22,523,579	T205S	possibly damaging	Het
Wdsub1	G	A	2: 59,876,805	P28S	probably damaging	Het
Ybx2	G	T	11: 69,935,941		probably benign	Het
Zfyve1	A	T	12: 83,575,135	V162E	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
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'- GCTCAGGTAAGCAGGTACAC -3'
(R):5'- TCTTTAGCATAAGACCTTCTGGGC -3'

Sequencing Primer
(F):5'- CTCAGGTAAGCAGGTACACTTTAG -3'
(R):5'- ACCTTCTGGGCTGTGGAG -3'

Posted On

2015-06-10