Mutagenetix > Incidental Mutation

Incidental Mutation 'R1930:Fezf1'

215267

Institutional Source

Beutler Lab

Gene Symbol

Fezf1

Ensembl Gene

ENSMUSG00000029697

Gene Name

Fez family zinc finger 1

Synonyms

Zfp312-like, 3110069A13Rik, Fez

MMRRC Submission

039948-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23245044-23248362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23246907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 309 (I309L)

Ref Sequence

ENSEMBL: ENSMUSP00000031709 (fasta)

Gene Model

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

AlphaFold

Q0VDQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031709
AA Change: I309L

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

SMART Domains

Protein: ENSMUSP00000031709
Gene: ENSMUSG00000029697
AA Change: I309L

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: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
2410002F23Rik	T	A	7: 44,251,116	D148E	probably damaging	Het
4930590J08Rik	T	C	6: 91,915,021	V88A	probably benign	Het
4933430I17Rik	A	T	4: 62,532,282	D31V	possibly damaging	Het
Acsl1	C	A	8: 46,530,986	A514E	probably benign	Het
Adam29	T	C	8: 55,873,089	Y110C	probably damaging	Het
Adamts20	T	A	15: 94,404,010	H27L	probably benign	Het
Ago2	A	T	15: 73,119,355	I578N	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AW011738	T	C	4: 156,203,540		probably benign	Het
Bid	C	T	6: 120,897,255	A110T	possibly damaging	Het
Cav1	A	T	6: 17,339,332	I139F	probably damaging	Het
Cep152	A	T	2: 125,618,371		probably null	Het
Chrnb1	A	G	11: 69,792,737	L261P	possibly damaging	Het
Cntn3	C	T	6: 102,242,053	W535*	probably null	Het
Col4a4	A	C	1: 82,466,600		probably null	Het
Daam2	A	T	17: 49,462,213		probably null	Het
Ddx23	G	A	15: 98,650,718	R370W	possibly damaging	Het
Dgkh	T	C	14: 78,616,505	I265V	probably damaging	Het
Diexf	T	A	1: 193,118,309	K401I	probably damaging	Het
Ece1	A	G	4: 137,938,763	K306R	probably benign	Het
Fat1	C	T	8: 45,044,228	T4250M	possibly damaging	Het
Gabra4	T	C	5: 71,638,237	K206E	probably damaging	Het
Glt8d2	G	T	10: 82,664,642	S91R	probably benign	Het
H2-Oa	A	T	17: 34,093,899	H50L	possibly damaging	Het
Hsd17b2	T	C	8: 117,758,904	Y369H	possibly damaging	Het
Hspg2	T	A	4: 137,540,230	S2050T	probably damaging	Het
Ice1	A	T	13: 70,605,083	S961R	probably benign	Het
Ift20	G	A	11: 78,540,004	V58I	possibly damaging	Het
Ippk	T	A	13: 49,450,018	F367I	probably damaging	Het
Klkb1	T	A	8: 45,275,477	Q415L	probably benign	Het
Krtcap2	T	A	3: 89,247,076	N35K	probably damaging	Het
Lgi3	T	C	14: 70,536,268	V294A	probably damaging	Het
Lrp5	C	T	19: 3,610,131	V978I	probably benign	Het
Magi3	A	T	3: 104,089,604	D208E	probably damaging	Het
Mc2r	T	A	18: 68,407,782	T147S	probably benign	Het
Mfsd4b1	C	A	10: 40,006,074	A72S	probably benign	Het
Msln	A	T	17: 25,751,922	N150K	probably damaging	Het
Naaa	A	G	5: 92,278,035	V33A	probably benign	Het
Nol10	A	G	12: 17,348,554	M1V	probably null	Het
Olfr1264	G	A	2: 90,021,161	R302C	probably benign	Het
Olfr784	T	A	10: 129,387,876	M81K	probably benign	Het
Osbpl1a	T	A	18: 12,905,194	Q269L	probably benign	Het
Pcnx2	C	A	8: 125,887,714	V333L	probably benign	Het
Peg10	A	G	6: 4,755,778	Y118C	probably damaging	Het
Pkhd1l1	A	G	15: 44,503,337	D737G	possibly damaging	Het
Ptgfr	T	A	3: 151,835,194	T226S	probably benign	Het
Ptprz1	T	A	6: 23,007,355	V1639E	probably damaging	Het
Scgb2b20	T	C	7: 33,366,196		probably null	Het
Sdr16c6	A	G	4: 4,058,809	V259A	probably benign	Het
Slc16a5	A	T	11: 115,469,368	I126F	probably damaging	Het
Slc51b	T	A	9: 65,415,196	E21V	probably damaging	Het
Slc8a3	G	T	12: 81,314,446	T533N	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spata3	A	C	1: 86,022,061		probably benign	Het
Specc1l	A	G	10: 75,309,824	D1101G	probably damaging	Het
Srf	C	A	17: 46,549,986	G401C	probably damaging	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Stradb	A	C	1: 58,991,105	N173H	probably benign	Het
Sugp1	T	A	8: 70,071,540	D598E	probably benign	Het
Tdg	T	A	10: 82,641,544	L35Q	probably damaging	Het
Tekt2	T	C	4: 126,322,817		probably null	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tmprss2	T	C	16: 97,569,062	S301G	probably benign	Het
Tnrc18	A	T	5: 142,776,324	N515K	unknown	Het
Togaram1	A	G	12: 64,966,935	Y320C	probably damaging	Het
Tspyl3	A	G	2: 153,224,797	F174L	probably damaging	Het
Ttn	C	T	2: 76,722,849	D31099N	probably damaging	Het
Ugt2b1	T	A	5: 86,917,841	L446F	probably damaging	Het
Wdfy3	A	G	5: 101,941,492	L612P	probably damaging	Het
Zfp109	G	A	7: 24,228,736	T424M	probably damaging	Het
Zfp60	T	A	7: 27,736,957	M1K	probably null	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
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
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
R9137:Fezf1	UTSW	6	23246512	splice site	probably benign
R9294:Fezf1	UTSW	6	23245798	missense	possibly damaging	0.96
R9510:Fezf1	UTSW	6	23247846	missense	probably benign	0.01
R9668:Fezf1	UTSW	6	23247575	missense	probably benign	0.00
X0025:Fezf1	UTSW	6	23247909	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGTTTCTCCTAAGCAGCAGAG -3'
(R):5'- AATCTGTGCTTCCGTTAACCTG -3'

Sequencing Primer
(F):5'- GTGATGCGGAATCCTATCATCAC -3'
(R):5'- GTGCTTCCGTTAACCTGTTTTC -3'

Posted On

2014-07-14