Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01895:Fezf2'

179365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fezf2

Ensembl Gene

ENSMUSG00000021743

Gene Name

Fez family zinc finger 2

Synonyms

Fezl, Zfp312, forebrain embryonic zinc finger, Fez

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

IGL01895

Quality Score

Status

Chromosome

Chromosomal Location

12342094-12348189 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 12342498 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 456 (*456R)

Ref Sequence

ENSEMBL: ENSMUSP00000153090 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022262] [ENSMUST00000224023] [ENSMUST00000224714]

AlphaFold

Q9ESP5

Predicted Effect

probably null
Transcript: ENSMUST00000022262
AA Change: *456R

SMART Domains

Protein: ENSMUSP00000022262
Gene: ENSMUSG00000021743
AA Change: *456R

Domain	Start	End	E-Value	Type
low complexity region	41	55	N/A	INTRINSIC
low complexity region	101	120	N/A	INTRINSIC
ZnF_C2H2	272	294	1.58e-3	SMART
ZnF_C2H2	300	322	3.39e-3	SMART
ZnF_C2H2	328	350	2.79e-4	SMART
ZnF_C2H2	356	378	2.57e-3	SMART
ZnF_C2H2	384	406	1.45e-2	SMART
ZnF_C2H2	412	435	1.92e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224023

Predicted Effect

probably null
Transcript: ENSMUST00000224714
AA Change: *456R

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a null allele show hyperactivity, altered feeding behavior leading to delayed growth and premature death, and impaired formation of subplate neurons and thalamocortical projections. Homozygotes for another allele lack a corpus callosum and show severe subcortical projection defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,229,107	V2279E	possibly damaging	Het
Abcc6	A	T	7: 46,029,058	I56N	possibly damaging	Het
Akr1c13	A	T	13: 4,205,373	E321V	possibly damaging	Het
Atp8b3	A	T	10: 80,521,828	V1119D	possibly damaging	Het
Cacna1e	G	T	1: 154,443,900	F1351L	probably damaging	Het
Cadps2	A	G	6: 23,427,275	W585R	probably damaging	Het
Ccdc113	C	T	8: 95,536,458		probably benign	Het
Ccer1	A	T	10: 97,694,050	I192F	unknown	Het
Chd8	T	C	14: 52,199,094	N90S	probably benign	Het
Clca3a1	A	T	3: 144,747,572	C463*	probably null	Het
Cyp2c65	T	A	19: 39,072,232	C179S	possibly damaging	Het
Dennd4b	A	G	3: 90,275,567	Q35R	probably benign	Het
Enpep	T	C	3: 129,270,334	E928G	possibly damaging	Het
Fem1c	T	C	18: 46,505,562	T458A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14085	A	C	2: 122,525,091	Y588S	possibly damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Iqcm	T	G	8: 75,888,560	L423R	probably damaging	Het
Kcnc4	C	A	3: 107,448,218	V305L	probably benign	Het
Kif1a	G	A	1: 93,025,733	T1337I	possibly damaging	Het
Lpxn	A	G	19: 12,833,086	D298G	probably damaging	Het
Lypd8	A	G	11: 58,390,220	T203A	possibly damaging	Het
Mrps28	C	T	3: 8,900,059	V107M	probably damaging	Het
Myo15b	A	G	11: 115,883,498	E586G	possibly damaging	Het
Pdzk1	C	T	3: 96,869,101	A459V	possibly damaging	Het
Rbpj	A	G	5: 53,651,386	D285G	probably damaging	Het
Rimbp3	T	C	16: 17,211,436	L908P	probably damaging	Het
Samd4b	T	C	7: 28,401,909		probably null	Het
Stau2	C	T	1: 16,345,937	G401S	probably damaging	Het
Trpa1	A	T	1: 14,887,643	I697K	possibly damaging	Het
Ttc17	A	C	2: 94,375,146	V285G	possibly damaging	Het
Unc5b	A	G	10: 60,767,085	F845S	probably damaging	Het
Vmn1r19	A	T	6: 57,405,260	Q266L	probably benign	Het
Vmn2r106	T	C	17: 20,278,965	N228S	probably benign	Het
Vps13d	A	G	4: 145,156,266	F919S	possibly damaging	Het
Zbtb38	C	T	9: 96,688,408	V208I	probably benign	Het
Zfp990	A	T	4: 145,536,857	T142S	probably damaging	Het
Zfp990	C	A	4: 145,536,858	T142N	probably damaging	Het

Other mutations in Fezf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:Fezf2	APN	14	12343705	missense	probably benign	0.01
IGL02238:Fezf2	APN	14	12344494	missense	probably damaging	0.98
IGL02428:Fezf2	APN	14	12344494	missense	probably damaging	0.98
IGL02588:Fezf2	APN	14	12343687	missense	probably damaging	1.00
K3955:Fezf2	UTSW	14	12345097	missense	probably damaging	1.00
R0266:Fezf2	UTSW	14	12342607	missense	probably damaging	1.00
R0281:Fezf2	UTSW	14	12343977	missense	probably damaging	1.00
R0849:Fezf2	UTSW	14	12342607	missense	probably damaging	1.00
R1061:Fezf2	UTSW	14	12342713	missense	probably damaging	1.00
R1107:Fezf2	UTSW	14	12342624	missense	probably damaging	1.00
R1326:Fezf2	UTSW	14	12342644	missense	probably benign	0.12
R1914:Fezf2	UTSW	14	12343988	missense	probably damaging	1.00
R1955:Fezf2	UTSW	14	12342644	missense	probably benign	0.12
R1980:Fezf2	UTSW	14	12344405	missense	probably benign	0.04
R1981:Fezf2	UTSW	14	12344405	missense	probably benign	0.04
R1982:Fezf2	UTSW	14	12344405	missense	probably benign	0.04
R1988:Fezf2	UTSW	14	12344350	missense	probably damaging	0.98
R4023:Fezf2	UTSW	14	12343986	missense	probably damaging	1.00
R4025:Fezf2	UTSW	14	12343986	missense	probably damaging	1.00
R4026:Fezf2	UTSW	14	12343986	missense	probably damaging	1.00
R5373:Fezf2	UTSW	14	12344803	missense	possibly damaging	0.67
R6982:Fezf2	UTSW	14	12343645	missense	probably damaging	1.00
R7650:Fezf2	UTSW	14	12342653	missense	probably damaging	0.97
R7677:Fezf2	UTSW	14	12344941	missense	probably benign	0.38
R7898:Fezf2	UTSW	14	12342701	missense	possibly damaging	0.82
R8842:Fezf2	UTSW	14	12345079	missense	probably damaging	1.00
Z1177:Fezf2	UTSW	14	12344765	missense	probably benign	0.19

Posted On

2014-05-07