Mutagenetix > Incidental Mutations

Incidental Mutation 'R7735:Gzf1'

596179

Institutional Source

Beutler Lab

Gene Symbol

Gzf1

Ensembl Gene

ENSMUSG00000027439

Gene Name

GDNF-inducible zinc finger protein 1

Synonyms

Zfp336, 8430437G08Rik

Accession Numbers

Ncbi RefSeq: NM_028986.3; MGI:1921783

Is this an essential gene?

Possibly essential (E-score: 0.638) question?

Stock #

R7735 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148681023-148692949 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 148688163 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 538 (V538A)

Ref Sequence

ENSEMBL: ENSMUSP00000028928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028928] [ENSMUST00000131292]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028928
AA Change: V538A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: V538A

Domain	Start	End	E-Value	Type
BTB	31	133	2.01e-20	SMART
low complexity region	199	213	N/A	INTRINSIC
coiled coil region	287	308	N/A	INTRINSIC
ZnF_C2H2	315	337	6.32e-3	SMART
ZnF_C2H2	346	369	1.2e-3	SMART
ZnF_C2H2	375	398	8.34e-3	SMART
ZnF_C2H2	405	427	7.78e-3	SMART
ZnF_C2H2	433	455	1.69e-3	SMART
ZnF_C2H2	461	483	1.43e-1	SMART
ZnF_C2H2	489	511	2.4e-3	SMART
ZnF_C2H2	517	539	1.47e-3	SMART
ZnF_C2H2	545	567	1.38e-3	SMART
ZnF_C2H2	573	595	1.04e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131292

SMART Domains

Protein: ENSMUSP00000121799
Gene: ENSMUSG00000027439

Domain	Start	End	E-Value	Type
BTB	31	133	2.01e-20	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	C	15: 64,783,780	T617A	probably benign	Het
Agl	A	T	3: 116,785,146	I446N	probably benign	Het
Aox1	C	T	1: 58,068,292	P575L	probably benign	Het
Ap2m1	A	T	16: 20,539,519	I96F	probably benign	Het
Arhgap15	A	G	2: 44,116,630	D253G	probably damaging	Het
Arsa	A	T	15: 89,474,949	C171*	probably null	Het
Arsb	G	T	13: 93,771,983	R69L	probably benign	Het
Canx	G	T	11: 50,301,039	D348E	probably damaging	Het
Cebpz	C	T	17: 78,925,913		probably null	Het
Ces2h	A	T	8: 105,014,495	I40L	probably benign	Het
Csmd2	T	C	4: 128,456,930		probably null	Het
Cxadr	T	A	16: 78,329,061	N106K	possibly damaging	Het
Ddo	T	C	10: 40,631,774	C56R	probably benign	Het
Dnah6	C	T	6: 73,069,429	G3192D	probably damaging	Het
Efcab3	T	A	11: 105,071,639	V49E	probably benign	Het
Epha10	T	C	4: 124,913,679	Y578H		Het
Fbxw16	T	C	9: 109,441,067	D202G	probably damaging	Het
Gm4788	A	G	1: 139,732,301		probably null	Het
Igha	T	A	12: 113,256,399		probably benign	Het
Iqce	G	T	5: 140,678,084	Q457K	probably benign	Het
Kbtbd3	A	G	9: 4,330,846	K407E	possibly damaging	Het
Lipt1	A	G	1: 37,875,622	E253G	probably damaging	Het
Mrnip	G	A	11: 50,196,973	W107*	probably null	Het
Mroh4	T	C	15: 74,625,508	T224A	probably damaging	Het
Ncoa2	A	T	1: 13,148,437	S1389R	probably benign	Het
Npffr2	A	G	5: 89,583,314	I368V	probably benign	Het
Nrd1	C	T	4: 109,037,985	L469F	probably damaging	Het
Nup210l	A	T	3: 90,185,576	Q1279L	probably damaging	Het
Olfr1297	T	A	2: 111,621,474	N200I	probably damaging	Het
Olfr862	A	G	9: 19,884,114	Y64H	probably damaging	Het
Pcdha4	T	G	18: 36,952,908	I48S	probably damaging	Het
Pip5kl1	A	G	2: 32,579,089	Y211C	possibly damaging	Het
Ppil2	G	T	16: 17,100,260	S97R	probably benign	Het
Prrt4	A	T	6: 29,170,036	S806T	possibly damaging	Het
Ptpn20	T	A	14: 33,630,945	Y214N	probably damaging	Het
Ptprt	A	T	2: 161,575,741	N938K	probably damaging	Het
Scn2a	G	T	2: 65,763,669	V1621L	probably benign	Het
Senp3	A	G	11: 69,678,261	I358T	probably damaging	Het
Sf3b1	A	T	1: 55,003,349	S461T	probably benign	Het
Slc22a2	C	T	17: 12,610,030	T341I	probably damaging	Het
Slc38a7	A	T	8: 95,841,667	D363E	probably benign	Het
Slc6a5	T	C	7: 49,948,342		probably null	Het
Smo	T	A	6: 29,759,852	V650E	probably damaging	Het
Spata17	G	A	1: 187,140,380	T31I	unknown	Het
Sstr2	T	A	11: 113,624,597	I114N	possibly damaging	Het
Styxl1	T	C	5: 135,759,169	Y146C	probably damaging	Het
Synpo2l	T	C	14: 20,661,175	Q688R	possibly damaging	Het
Tmem245	C	T	4: 56,925,155	R322H	probably benign	Het
Tnxb	A	G	17: 34,671,424	E247G	unknown	Het
Ttn	A	T	2: 76,888,072	I7255N	unknown	Het
Unc13b	C	T	4: 43,165,791	R204C	probably damaging	Het
Utrn	A	G	10: 12,744,043		probably null	Het
Vps53	A	T	11: 76,047,136	F753I	probably damaging	Het
Zdbf2	A	G	1: 63,304,105	T548A	possibly damaging	Het
Zfp747	G	A	7: 127,374,500	T166M	probably damaging	Het

Other mutations in Gzf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Gzf1	APN	2	148690996	missense	probably damaging	0.99
IGL01647:Gzf1	APN	2	148683650	missense	probably damaging	1.00
IGL01789:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL01791:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL01952:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL01954:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL01956:Gzf1	APN	2	148684061	missense	probably benign	0.41
IGL03391:Gzf1	APN	2	148683683	missense	probably damaging	1.00
I0000:Gzf1	UTSW	2	148686620	unclassified	probably benign
P0019:Gzf1	UTSW	2	148683980	missense	probably damaging	1.00
R0420:Gzf1	UTSW	2	148683833	missense	probably benign	0.30
R0725:Gzf1	UTSW	2	148684649	nonsense	probably null
R1131:Gzf1	UTSW	2	148690867	missense	probably benign	0.02
R2000:Gzf1	UTSW	2	148684611	missense	probably benign	0.16
R2211:Gzf1	UTSW	2	148684950	missense	probably damaging	1.00
R2251:Gzf1	UTSW	2	148683936	missense	probably damaging	1.00
R2252:Gzf1	UTSW	2	148683936	missense	probably damaging	1.00
R2253:Gzf1	UTSW	2	148683936	missense	probably damaging	1.00
R4233:Gzf1	UTSW	2	148686533	missense	possibly damaging	0.86
R5551:Gzf1	UTSW	2	148684328	missense	probably damaging	1.00
R6050:Gzf1	UTSW	2	148684238	missense	possibly damaging	0.89
R6891:Gzf1	UTSW	2	148684769	nonsense	probably null
R7457:Gzf1	UTSW	2	148690082	missense	probably damaging	0.99
R7839:Gzf1	UTSW	2	148683895	nonsense	probably null
R7922:Gzf1	UTSW	2	148683895	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGACTAGCTCTTCCTCATCTGG -3'
(R):5'- TGCCATGAATCTGGCCATGC -3'

Sequencing Primer
(F):5'- CATCTGGTTGTTTTAATGCCTCTG -3'
(R):5'- GAATCTGGCCATGCTTTCTCTACG -3'

Posted On

2019-11-26