Mutagenetix > Incidental Mutations

Incidental Mutation 'R1061:Fezf2'

94533

Institutional Source

Beutler Lab

Gene Symbol

Fezf2

Ensembl Gene

ENSMUSG00000021743

Gene Name

Fez family zinc finger 2

Synonyms

Fezl, Zfp312, forebrain embryonic zinc finger, Fez

MMRRC Submission

039147-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12342094-12348189 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12342713 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 384 (Y384C)

Ref Sequence

ENSEMBL: ENSMUSP00000153090 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000022262
AA Change: Y384C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022262
Gene: ENSMUSG00000021743
AA Change: Y384C

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 damaging
Transcript: ENSMUST00000224714
AA Change: Y384C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,277,809	A715T	probably benign	Het
Ampd2	A	G	3: 108,075,689	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,398,191	V171E	probably damaging	Het
Arid4a	T	A	12: 71,074,955	S381R	probably damaging	Het
Armc8	T	G	9: 99,537,731	N51H	probably damaging	Het
Asic5	T	A	3: 82,021,001	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,164,069	K471*	probably null	Het
Birc6	A	G	17: 74,689,312	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,527,435	I139T	probably benign	Het
Ccdc114	T	C	7: 45,941,755	I218T	probably damaging	Het
Ccdc60	C	A	5: 116,172,468	R178S	possibly damaging	Het
Cd163	C	T	6: 124,309,169	A226V	probably benign	Het
Cog1	T	G	11: 113,652,037	S170A	probably benign	Het
Cwc15	T	C	9: 14,507,915	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,986,833	D333E	probably benign	Het
Ddc	C	T	11: 11,829,132	V331I	probably benign	Het
Dlc1	T	A	8: 36,858,051	T367S	probably benign	Het
Dnah17	T	C	11: 118,052,688	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,545,065	Y165*	probably null	Het
Eml6	T	C	11: 29,777,267	D1285G	probably damaging	Het
Fam92b	C	A	8: 120,169,704		probably null	Het
Fasn	T	C	11: 120,822,182		probably null	Het
Fbn1	T	C	2: 125,345,963	T1549A	probably benign	Het
Flvcr1	A	T	1: 191,008,173	V550E	probably benign	Het
Gcm2	A	G	13: 41,105,871	W41R	probably damaging	Het
Gli2	A	T	1: 118,854,517	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,150,307	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,204,155	S66T	probably benign	Het
Hsph1	A	T	5: 149,618,418	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,796,862	V220M	probably damaging	Het
Klhl25	T	A	7: 75,866,520	Y391*	probably null	Het
Mc2r	A	T	18: 68,407,809	Y138N	probably damaging	Het
Mtap	C	A	4: 89,156,584	D106E	probably benign	Het
Nup43	G	T	10: 7,667,671	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,326,363	E197D	probably damaging	Het
Olfr1098	A	T	2: 86,922,782	V250D	possibly damaging	Het
Olfr484	T	C	7: 108,124,456	Y269C	probably damaging	Het
Olfr544	T	A	7: 102,484,114	*335C	probably null	Het
Olfr934	C	A	9: 38,982,483	C187F	probably damaging	Het
Pitrm1	A	G	13: 6,555,575	H186R	probably damaging	Het
Pklr	C	T	3: 89,144,881	R467C	probably damaging	Het
Plxna2	A	G	1: 194,644,093	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,508,614		probably null	Het
R3hcc1l	C	T	19: 42,583,426	R135*	probably null	Het
Ralyl	A	C	3: 14,115,701	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
S100a1	T	C	3: 90,511,312	N65S	probably damaging	Het
Scn11a	A	T	9: 119,795,663	M531K	probably damaging	Het
Slc5a5	T	A	8: 70,890,221	M232L	probably benign	Het
Tet3	A	T	6: 83,373,323	N1054K	probably damaging	Het
Tg	A	G	15: 66,698,559	N1427D	probably benign	Het
Tns1	A	C	1: 73,917,672	V530G	probably damaging	Het
Trcg1	C	A	9: 57,245,873	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,768,706	E40G	probably damaging	Het
Usp34	T	C	11: 23,384,420	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,061,644	T726I	probably benign	Het
Vmn2r97	A	T	17: 18,928,178	R112*	probably null	Het
Vwa2	G	T	19: 56,908,994	R577L	probably benign	Het
Vwa3b	A	C	1: 37,157,430	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,992,799		probably null	Het
Wrap53	A	G	11: 69,562,400	L405P	probably damaging	Het
Zfp629	C	A	7: 127,611,989	W216L	probably damaging	Het

Other mutations in Fezf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01895:Fezf2	APN	14	12342498	makesense	probably null
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
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
R7981:Fezf2	UTSW	14	12342701	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AGTAGCTCTCAGCTCTGAACTGTCC -3'
(R):5'- TGCCTAGTCAAGCATCGCCTTC -3'

Sequencing Primer
(F):5'- GGCTAGGTCCTTTGCTGAG -3'
(R):5'- AAGCATCGCCTTCTGAGC -3'

Posted On

2014-01-05