Mutagenetix > Incidental Mutations

Incidental Mutation 'R6050:Gzf1'

483490

Institutional Source

Beutler Lab

Gene Symbol

Gzf1

Ensembl Gene

ENSMUSG00000027439

Gene Name

GDNF-inducible zinc finger protein 1

Synonyms

Zfp336, 8430437G08Rik

MMRRC Submission

044218-MU

Accession Numbers

Ncbi RefSeq: NM_028986.3; MGI:1921783

Is this an essential gene?

Possibly essential (E-score: 0.720) question?

Stock #

R6050 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

148681023-148692949 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 148684238 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 210 (D210N)

Ref Sequence

ENSEMBL: ENSMUSP00000028928 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028928
AA Change: D210N

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: D210N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151362

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Ahdc1	A	G	4: 133,065,891	D1481G	possibly damaging	Het
Ak9	A	G	10: 41,389,112	E955G	possibly damaging	Het
Aox3	T	C	1: 58,180,655	F1138S	possibly damaging	Het
Bbs2	T	A	8: 94,092,532	N70Y	probably damaging	Het
BC048679	T	C	7: 81,495,591	I70V	possibly damaging	Het
Ccdc141	G	T	2: 77,011,731	A1452E	probably benign	Het
Celsr1	T	C	15: 85,930,611	D1883G	probably benign	Het
Clhc1	A	G	11: 29,561,397	I280M	possibly damaging	Het
Cmtr1	G	T	17: 29,682,134	K678N	probably damaging	Het
Daam2	T	C	17: 49,486,502	D329G	possibly damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Duox1	C	T	2: 122,319,475	P116S	probably benign	Het
Fcf1	G	A	12: 84,982,243	C154Y	probably damaging	Het
Frem2	T	C	3: 53,653,012	N1358S	probably damaging	Het
Gm16432	G	A	1: 178,103,924	A470T	unknown	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Gtf3c3	T	C	1: 54,406,070	I608M	probably benign	Het
Ift140	C	T	17: 25,091,005	R1129C	probably damaging	Het
Lias	A	G	5: 65,393,972	I83V	possibly damaging	Het
Mgea5	A	C	19: 45,765,480	S652A	possibly damaging	Het
Mlh3	T	C	12: 85,240,846	T1342A	possibly damaging	Het
Mn1	A	G	5: 111,419,397	Y411C	probably damaging	Het
Mrps21	C	T	3: 95,862,888	R43H	probably benign	Het
Ncam2	C	T	16: 81,443,166	Q172*	probably null	Het
Notch3	T	C	17: 32,143,527	T1375A	probably benign	Het
Ovol3	T	A	7: 30,234,394	Y101F	probably benign	Het
Pcbp4	T	C	9: 106,462,223	V45A	probably benign	Het
Plec	T	C	15: 76,188,258	E709G	probably damaging	Het
Prcc	G	A	3: 87,869,884	T261I	probably damaging	Het
Psg25	A	G	7: 18,526,478	V165A	probably benign	Het
Rfk	C	T	19: 17,399,532	P133S	probably benign	Het
Scaf8	C	T	17: 3,168,108	T251M	unknown	Het
Sec14l2	T	C	11: 4,111,477	D67G	probably benign	Het
Smtnl1	A	G	2: 84,811,453	I441T	probably damaging	Het
Tbce	C	T	13: 13,998,434	V471I	possibly damaging	Het
Tnip1	G	A	11: 54,917,877	R495C	probably damaging	Het
Trbv19	A	G	6: 41,179,010	K105R	probably benign	Het
Ttc5	T	A	14: 50,773,287	N229I	probably damaging	Het
Ush2a	T	C	1: 188,957,324	F5028L	probably benign	Het
Vmn2r24	T	C	6: 123,815,732	S673P	probably damaging	Het
Zfp780b	A	T	7: 27,964,302	I276N	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
R6891:Gzf1	UTSW	2	148684769	nonsense	probably null
R7457:Gzf1	UTSW	2	148690082	missense	probably damaging	0.99
R7735:Gzf1	UTSW	2	148688163	missense	possibly damaging	0.91
R7839:Gzf1	UTSW	2	148683895	nonsense	probably null
R8168:Gzf1	UTSW	2	148684766	missense	probably damaging	1.00
R8225:Gzf1	UTSW	2	148690844	missense	probably benign	0.02
R8432:Gzf1	UTSW	2	148690195	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GAATTTCTCTGAGTCTCAGGAGGTG -3'
(R):5'- ACTTTTGGCAGCTGGCTCAG -3'

Sequencing Primer
(F):5'- TCTCAGGAGGTGGAGGC -3'
(R):5'- AGCTGGCTCAGTCTCCATC -3'

Posted On

2017-07-14