Mutagenetix > Incidental Mutations

Incidental Mutation 'R5128:Zfp597'

394880

Institutional Source

Beutler Lab

Gene Symbol

Zfp597

Ensembl Gene

ENSMUSG00000039789

Gene Name

zinc finger protein 597

Synonyms

MMRRC Submission

042716-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3858321-3884561 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 3872124 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090522] [ENSMUST00000151988]

Predicted Effect

probably benign
Transcript: ENSMUST00000090522

SMART Domains

Protein: ENSMUSP00000088009
Gene: ENSMUSG00000039789

Domain	Start	End	E-Value	Type
KRAB	14	75	2.61e-4	SMART
ZnF_C2H2	155	177	5.21e-4	SMART
ZnF_C2H2	183	205	6.88e-4	SMART
ZnF_C2H2	211	233	1.2e-3	SMART
ZnF_C2H2	239	261	2.4e-3	SMART
ZnF_C2H2	336	358	2.17e-1	SMART
ZnF_C2H2	364	386	1.33e-1	SMART
ZnF_C2H2	392	414	2.75e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119599

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138857

Predicted Effect

probably benign
Transcript: ENSMUST00000151988

SMART Domains

Protein: ENSMUSP00000118782
Gene: ENSMUSG00000005982

Domain	Start	End	E-Value	Type
Pfam:Acetyltransf_7	50	157	1.1e-11	PFAM
Pfam:Acetyltransf_1	57	156	1.3e-15	PFAM
Pfam:FR47	77	164	1.6e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181068

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	G	A	2: 111,164,329	Q251*	probably null	Het
Abcc6	A	G	7: 45,989,646	S958P	probably benign	Het
Ahnak	T	C	19: 9,017,087	L5245P	probably damaging	Het
Alg5	T	A	3: 54,742,137		probably null	Het
Anapc1	A	G	2: 128,659,917	V735A	probably benign	Het
Arhgap45	A	G	10: 80,030,959	T1099A	probably benign	Het
Cacna1e	A	C	1: 154,402,021	S2062A	probably damaging	Het
Chrna9	A	G	5: 65,971,222	S258G	probably benign	Het
Ctcfl	T	C	2: 173,117,396	E179G	probably benign	Het
Dcdc2a	C	A	13: 25,102,529	A145E	probably damaging	Het
Dgkz	A	G	2: 91,942,683	I343T	probably damaging	Het
Dnah1	T	C	14: 31,296,195		probably null	Het
Dqx1	T	C	6: 83,060,567	L374P	probably damaging	Het
Entpd5	A	T	12: 84,394,690	F101L	probably benign	Het
Esco1	A	T	18: 10,567,468		probably benign	Het
Fgf1	C	A	18: 38,842,025	V124L	probably benign	Het
Gm16380	C	T	9: 53,884,113		noncoding transcript	Het
Grid2	G	A	6: 64,665,998	A915T	probably benign	Het
Inhbc	A	T	10: 127,357,742	M135K	probably benign	Het
Mertk	C	A	2: 128,738,247	T207K	probably damaging	Het
Mroh9	C	G	1: 163,060,760	G249R	probably damaging	Het
Mtmr10	C	T	7: 64,333,439	T498I	probably damaging	Het
Muc3	A	G	5: 137,138,186		probably null	Het
Nlrp1c-ps	G	T	11: 71,279,595		noncoding transcript	Het
Nphp4	T	A	4: 152,502,991	I267N	probably benign	Het
Obox8	A	G	7: 14,332,090	W168R	probably damaging	Het
Olfr1247	A	T	2: 89,609,303	D266E	probably damaging	Het
Olfr143	T	C	9: 38,253,570	L48P	probably damaging	Het
Olfr330	A	T	11: 58,529,422	V188E	probably damaging	Het
Pafah1b1	A	G	11: 74,679,436		probably benign	Het
Palld	T	C	8: 61,720,588	T346A	probably damaging	Het
Pip4k2b	A	G	11: 97,718,876	S412P	probably benign	Het
Scn3a	T	C	2: 65,508,518	S606G	probably benign	Het
Slc12a7	G	T	13: 73,805,433	S754I	probably benign	Het
Tep1	A	G	14: 50,844,279	*489R	probably null	Het
Tnn	A	T	1: 160,122,894	V714E	probably damaging	Het
Trappc9	A	T	15: 73,058,393	I38N	probably damaging	Het
Ttc16	T	A	2: 32,762,997	I550F	probably benign	Het
Vit	T	C	17: 78,625,146	S561P	probably damaging	Het
Zdhhc1	T	A	8: 105,483,636	I50F	probably benign	Het
Zfp451	C	T	1: 33,802,933		probably benign	Het

Other mutations in Zfp597

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02939:Zfp597	APN	16	3865941	missense	probably benign	0.27
IGL02972:Zfp597	APN	16	3866523	missense	probably benign	0.20
IGL03289:Zfp597	APN	16	3865922	missense	possibly damaging	0.95
R0336:Zfp597	UTSW	16	3866379	missense	probably benign	0.15
R0621:Zfp597	UTSW	16	3866364	missense	probably benign	0.01
R4270:Zfp597	UTSW	16	3872090	start codon destroyed	probably null	1.00
R4361:Zfp597	UTSW	16	3865900	missense	probably damaging	1.00
R4774:Zfp597	UTSW	16	3865987	missense	probably benign	0.04
R5033:Zfp597	UTSW	16	3866638	missense	probably damaging	1.00
R5786:Zfp597	UTSW	16	3866159	nonsense	probably null
R5940:Zfp597	UTSW	16	3865821	missense	probably damaging	0.99
R7007:Zfp597	UTSW	16	3865927	missense	probably benign	0.25
R7008:Zfp597	UTSW	16	3865767	missense	probably benign
R7392:Zfp597	UTSW	16	3866505	missense	probably benign	0.00
Z1176:Zfp597	UTSW	16	3866129

Predicted Primers

Posted On

2016-06-21