Mutagenetix > Incidental Mutations

Incidental Mutation 'R8225:Gzf1'

636917

Institutional Source

Beutler Lab

Gene Symbol

Gzf1

Ensembl Gene

ENSMUSG00000027439

Gene Name

GDNF-inducible zinc finger protein 1

Synonyms

Zfp336, 8430437G08Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_028986.3; MGI:1921783

Is this an essential gene?

Possibly essential (E-score: 0.636) question?

Stock #

R8225 (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 A at 148690844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 639 (F639L)

Ref Sequence

ENSEMBL: ENSMUSP00000028928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028926] [ENSMUST00000028928] [ENSMUST00000136513]

AlphaFold

Q4VBD9

Predicted Effect

probably benign
Transcript: ENSMUST00000028926

SMART Domains

Protein: ENSMUSP00000028926
Gene: ENSMUSG00000027438

Domain	Start	End	E-Value	Type
Pfam:SNAP	8	288	7.3e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000028928
AA Change: F639L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000028928
Gene: ENSMUSG00000027439
AA Change: F639L

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: ENSMUST00000136513

SMART Domains

Protein: ENSMUSP00000120979
Gene: ENSMUSG00000027438

Domain	Start	End	E-Value	Type
Pfam:SNAP	8	114	3.5e-32	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,826,516	N82S	probably benign	Het
Ago3	A	T	4: 126,353,739	L595Q	probably damaging	Het
Bpifc	T	C	10: 86,000,567	T25A	probably benign	Het
Bsn	T	A	9: 108,107,106	T478S		Het
Cacna1d	A	G	14: 30,123,033	V720A	probably benign	Het
Cd109	G	T	9: 78,661,690	K350N	probably damaging	Het
Cdk6	C	A	5: 3,390,790	P115T	probably benign	Het
Clock	T	C	5: 76,241,912	N363S	probably damaging	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Dock10	T	A	1: 80,503,730	K517*	probably null	Het
Dynlt1a	G	T	17: 6,311,353	Q71K	probably damaging	Het
E330021D16Rik	A	T	6: 136,401,112	L240Q	probably damaging	Het
Epb41l3	C	T	17: 69,274,801	T591I	possibly damaging	Het
Exosc10	G	A	4: 148,565,204	V364I	possibly damaging	Het
Fabp3-ps1	A	G	10: 86,732,234	I52T	noncoding transcript	Het
Fndc3a	T	C	14: 72,557,677	Q766R	probably benign	Het
Gm10608	CACACACACAGA	CA	9: 119,160,708		probably null	Het
Gm10645	C	T	8: 83,165,838	R80H	unknown	Het
Gm7849	T	C	8: 21,456,402	D39G	possibly damaging	Het
Gpr146	A	T	5: 139,392,616	M58L	probably benign	Het
Kars	T	C	8: 112,003,338	I136V	probably benign	Het
Kcnj3	G	A	2: 55,437,714	V172M	probably damaging	Het
Kcnk10	A	G	12: 98,440,590		probably null	Het
Nagpa	C	A	16: 5,198,860	D334Y	probably damaging	Het
Nsun2	T	C	13: 69,612,374	I57T	possibly damaging	Het
Olfr1461	A	T	19: 13,165,143	N43I	probably damaging	Het
Pax8	A	T	2: 24,422,971	L432Q	probably damaging	Het
Plxna4	A	G	6: 32,162,103	L1710P	probably damaging	Het
Prdm16	A	G	4: 154,355,245		probably null	Het
Qrich2	A	G	11: 116,454,068	L1721P	probably damaging	Het
Sbsn	TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG	TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG	7: 30,751,994		probably benign	Het
Sbsn	T	C	7: 30,752,444	F295L	probably benign	Het
Slc4a7	C	T	14: 14,738,224	R153*	probably null	Het
Sult6b2	A	T	6: 142,804,329	M21K	probably benign	Het
Swt1	A	C	1: 151,422,108	S23A	possibly damaging	Het
Synm	A	C	7: 67,759,049	S194A	probably benign	Het
Sytl2	G	A	7: 90,375,517	A238T	probably benign	Het
Tax1bp1	G	A	6: 52,744,355		probably null	Het
Tfr2	G	A	5: 137,571,463	A74T	possibly damaging	Het
Tns1	G	A	1: 73,985,887	T389I	probably damaging	Het
Trpm2	C	T	10: 77,947,973	R222Q	probably damaging	Het
Trpm4	A	G	7: 45,305,334	C1094R	probably benign	Het
Uty	T	C	Y: 1,158,634	S471G	probably benign	Het
Vipr1	A	T	9: 121,642,849	M1L	possibly damaging	Het
Vps13b	A	G	15: 35,794,382	R2313G	probably damaging	Het
Xrn1	T	A	9: 96,035,667	C1301S	probably benign	Het
Ythdc1	A	T	5: 86,816,937	S164C	possibly damaging	Het
Ythdc1	G	T	5: 86,816,938	S164I	possibly damaging	Het
Zbtb9	T	A	17: 26,974,785	I388N	probably damaging	Het
Zfp521	T	C	18: 13,845,302	I685V	probably benign	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
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
R8432:Gzf1	UTSW	2	148690195	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GAAACGTAGCTACACGTGCAG -3'
(R):5'- CTTGGCACACAACTTCAAGTTC -3'

Sequencing Primer
(F):5'- ACGTGCAGTGACTCTTATTTTG -3'
(R):5'- CTCACTCCATATTGGTCAAGGAGG -3'

Posted On

2020-07-13