Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00732:Zfp1'

14934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp1

Ensembl Gene

ENSMUSG00000055835

Gene Name

zinc finger protein 1

Synonyms

mkr-1, Fnp-1, Zfp-1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL00732

Quality Score

Status

Chromosome

Chromosomal Location

112370033-112397643 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112397050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 324 (G324D)

Ref Sequence

ENSEMBL: ENSMUSP00000148511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077791] [ENSMUST00000211926] [ENSMUST00000212072] [ENSMUST00000212206]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000077791
AA Change: G357D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076964
Gene: ENSMUSG00000055835
AA Change: G357D

Domain	Start	End	E-Value	Type
KRAB	8	71	8.91e-21	SMART
ZnF_C2H2	183	205	5.14e-3	SMART
ZnF_C2H2	211	233	9.22e-5	SMART
ZnF_C2H2	239	261	1.72e-4	SMART
ZnF_C2H2	267	289	5.59e-4	SMART
ZnF_C2H2	295	317	3.16e-3	SMART
ZnF_C2H2	323	345	5.21e-4	SMART
ZnF_C2H2	351	373	2.65e-5	SMART
ZnF_C2H2	379	401	8.47e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000211926
AA Change: G343D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000212072
AA Change: G324D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212206

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the zinc finger protein family. Some members of this family bind to DNA by zinc-mediated secondary structures called zinc fingers, and are involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Dnah8	A	G	17: 30,875,615 (GRCm39)	Y479C	probably damaging	Het
Jph1	A	G	1: 17,161,964 (GRCm39)	S233P	probably damaging	Het
Nrip1	G	A	16: 76,089,949 (GRCm39)	T536I	probably benign	Het
Pik3c2a	G	A	7: 115,963,735 (GRCm39)	A925V	possibly damaging	Het
Prps2	A	T	X: 166,157,138 (GRCm39)	I56N	possibly damaging	Het
Sass6	G	A	3: 116,411,977 (GRCm39)	E312K	probably damaging	Het
Zfp282	C	T	6: 47,857,324 (GRCm39)	P186S	probably damaging	Het

Other mutations in Zfp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0402:Zfp1	UTSW	8	112,396,875 (GRCm39)	missense	probably damaging	0.98
R4381:Zfp1	UTSW	8	112,397,083 (GRCm39)	missense	probably damaging	1.00
R4478:Zfp1	UTSW	8	112,397,175 (GRCm39)	missense	probably damaging	1.00
R4894:Zfp1	UTSW	8	112,396,355 (GRCm39)	nonsense	probably null
R6067:Zfp1	UTSW	8	112,396,975 (GRCm39)	missense	probably damaging	1.00
R6078:Zfp1	UTSW	8	112,396,975 (GRCm39)	missense	probably damaging	1.00
R6723:Zfp1	UTSW	8	112,396,971 (GRCm39)	missense	probably damaging	1.00
R7711:Zfp1	UTSW	8	112,396,794 (GRCm39)	missense	not run
R9767:Zfp1	UTSW	8	112,396,203 (GRCm39)	missense	probably benign	0.00
U15987:Zfp1	UTSW	8	112,396,975 (GRCm39)	missense	probably damaging	1.00
X0026:Zfp1	UTSW	8	112,396,744 (GRCm39)	missense	probably damaging	0.99

Posted On

2012-12-06