Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Fezf2'

183264

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fezf2

Ensembl Gene

ENSMUSG00000021743

Gene Name

Fez family zinc finger 2

Synonyms

Fez, forebrain embryonic zinc finger, Zfp312, Fezl

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

10121574-10127669 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12343705 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 347 (I347V)

Ref Sequence

ENSEMBL: ENSMUSP00000153090 (fasta)

Gene Model

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

AlphaFold

Q9ESP5

Predicted Effect

probably benign
Transcript: ENSMUST00000022262
AA Change: I347V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000022262
Gene: ENSMUSG00000021743
AA Change: I347V

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
AA Change: I347V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224714
AA Change: I347V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,969,750 (GRCm39)	T2252A	probably benign	Het
Abcc2	C	T	19: 43,810,189 (GRCm39)		probably benign	Het
Abcf1	T	C	17: 36,272,954 (GRCm39)	E231G	probably benign	Het
Astn2	T	C	4: 65,977,390 (GRCm39)	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,671,766 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,763,473 (GRCm39)		probably benign	Het
Bdp1	A	G	13: 100,160,335 (GRCm39)	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,402,886 (GRCm39)	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,692,885 (GRCm39)	S218G	probably null	Het
Cand2	T	C	6: 115,780,599 (GRCm39)	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,398,824 (GRCm39)	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,487,291 (GRCm39)	V161D	probably damaging	Het
Ctsh	A	G	9: 89,943,600 (GRCm39)	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,677,371 (GRCm39)	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,677,372 (GRCm39)	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,079,543 (GRCm39)	W212*	probably null	Het
Dnah5	T	A	15: 28,343,698 (GRCm39)	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,590,320 (GRCm39)	M794T	probably damaging	Het
F11	G	T	8: 45,703,132 (GRCm39)	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,690,165 (GRCm39)	F815I	possibly damaging	Het
Fip1l1	C	T	5: 74,706,084 (GRCm39)	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,252,211 (GRCm39)	D598A	probably benign	Het
Gm1110	T	A	9: 26,794,526 (GRCm39)	D500V	probably benign	Het
Gm3248	T	A	14: 5,943,928 (GRCm38)	M99L	probably benign	Het
Gpi-ps	A	T	8: 5,689,896 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,081,028 (GRCm39)	R218*	probably null	Het
Ikbip	G	A	10: 90,929,119 (GRCm39)		probably null	Het
Kcnb2	C	T	1: 15,781,033 (GRCm39)	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,869,105 (GRCm39)	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,791,219 (GRCm39)	T442A	probably benign	Het
Mgat1	T	A	11: 49,151,562 (GRCm39)	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,084,576 (GRCm39)	S334R	probably benign	Het
Notch2	A	T	3: 98,054,612 (GRCm39)	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,104,089 (GRCm39)	V520M	probably damaging	Het
Or10d1b	A	G	9: 39,613,549 (GRCm39)	V172A	probably damaging	Het
Or4p18	T	A	2: 88,232,421 (GRCm39)	T286S	possibly damaging	Het
Or5d39	A	T	2: 87,979,922 (GRCm39)	V147E	probably damaging	Het
Or6c3b	T	A	10: 129,527,887 (GRCm39)	T8S	probably benign	Het
Or8g55	A	T	9: 39,784,781 (GRCm39)	D70V	probably damaging	Het
Or8k39	A	C	2: 86,563,521 (GRCm39)	I145R	possibly damaging	Het
Osr2	A	G	15: 35,302,138 (GRCm39)	H246R	probably damaging	Het
Papolg	T	C	11: 23,829,898 (GRCm39)	R224G	probably damaging	Het
Pax6	T	A	2: 105,522,623 (GRCm39)		probably null	Het
Pcyox1	A	G	6: 86,369,250 (GRCm39)	V192A	probably benign	Het
Phf1	C	T	17: 27,154,260 (GRCm39)	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,260,129 (GRCm39)	R45W	probably damaging	Het
Psmb9	T	A	17: 34,402,653 (GRCm39)	K109M	probably damaging	Het
Ptprt	T	A	2: 161,769,593 (GRCm39)	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,580,592 (GRCm39)	I70V	probably benign	Het
Rnf213	G	A	11: 119,309,135 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,905,368 (GRCm39)	I271F	probably benign	Het
Satb2	T	A	1: 56,835,952 (GRCm39)	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,375,859 (GRCm39)	G159V	possibly damaging	Het
Slit1	T	C	19: 41,634,579 (GRCm39)	I393V	probably damaging	Het
Spata20	T	A	11: 94,374,289 (GRCm39)	D327V	probably damaging	Het
Spata31e3	G	A	13: 50,400,721 (GRCm39)	P535L	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Tbc1d32	G	T	10: 56,027,871 (GRCm39)	Q744K	possibly damaging	Het
Tmem108	G	T	9: 103,366,439 (GRCm39)	N517K	possibly damaging	Het
Trp63	T	A	16: 25,681,211 (GRCm39)	N160K	probably damaging	Het
Ttll5	T	C	12: 85,980,385 (GRCm39)	S119P	probably damaging	Het
Ubqln3	T	A	7: 103,791,523 (GRCm39)	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,649,072 (GRCm39)	R638H	probably benign	Het
Wdr3	A	G	3: 100,058,298 (GRCm39)	S436P	probably damaging	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfp976	A	T	7: 42,263,656 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,657,303 (GRCm39)	M860V	probably damaging	Het
Zscan4d	T	C	7: 10,896,296 (GRCm39)	E358G	probably benign	Het

Other mutations in Fezf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01895:Fezf2	APN	14	12,342,498 (GRCm38)	makesense	probably null
IGL02238:Fezf2	APN	14	12,344,494 (GRCm38)	missense	probably damaging	0.98
IGL02428:Fezf2	APN	14	12,344,494 (GRCm38)	missense	probably damaging	0.98
IGL02588:Fezf2	APN	14	12,343,687 (GRCm38)	missense	probably damaging	1.00
K3955:Fezf2	UTSW	14	12,345,097 (GRCm38)	missense	probably damaging	1.00
R0266:Fezf2	UTSW	14	12,342,607 (GRCm38)	missense	probably damaging	1.00
R0281:Fezf2	UTSW	14	12,343,977 (GRCm38)	missense	probably damaging	1.00
R0849:Fezf2	UTSW	14	12,342,607 (GRCm38)	missense	probably damaging	1.00
R1061:Fezf2	UTSW	14	12,342,713 (GRCm38)	missense	probably damaging	1.00
R1107:Fezf2	UTSW	14	12,342,624 (GRCm38)	missense	probably damaging	1.00
R1326:Fezf2	UTSW	14	12,342,644 (GRCm38)	missense	probably benign	0.12
R1914:Fezf2	UTSW	14	12,343,988 (GRCm38)	missense	probably damaging	1.00
R1955:Fezf2	UTSW	14	12,342,644 (GRCm38)	missense	probably benign	0.12
R1980:Fezf2	UTSW	14	12,344,405 (GRCm38)	missense	probably benign	0.04
R1981:Fezf2	UTSW	14	12,344,405 (GRCm38)	missense	probably benign	0.04
R1982:Fezf2	UTSW	14	12,344,405 (GRCm38)	missense	probably benign	0.04
R1988:Fezf2	UTSW	14	12,344,350 (GRCm38)	missense	probably damaging	0.98
R4023:Fezf2	UTSW	14	12,343,986 (GRCm38)	missense	probably damaging	1.00
R4025:Fezf2	UTSW	14	12,343,986 (GRCm38)	missense	probably damaging	1.00
R4026:Fezf2	UTSW	14	12,343,986 (GRCm38)	missense	probably damaging	1.00
R5373:Fezf2	UTSW	14	12,344,803 (GRCm38)	missense	possibly damaging	0.67
R6982:Fezf2	UTSW	14	12,343,645 (GRCm38)	missense	probably damaging	1.00
R7650:Fezf2	UTSW	14	12,342,653 (GRCm38)	missense	probably damaging	0.97
R7677:Fezf2	UTSW	14	12,344,941 (GRCm38)	missense	probably benign	0.38
R7898:Fezf2	UTSW	14	12,342,701 (GRCm38)	missense	possibly damaging	0.82
R8842:Fezf2	UTSW	14	12,345,079 (GRCm38)	missense	probably damaging	1.00
Z1177:Fezf2	UTSW	14	12,344,765 (GRCm38)	missense	probably benign	0.19

Posted On

2014-05-07