Mutagenetix > Incidental Mutations

Incidental Mutation 'R5786:Zfp597'

448049

Institutional Source

Beutler Lab

Gene Symbol

Zfp597

Ensembl Gene

ENSMUSG00000039789

Gene Name

zinc finger protein 597

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3858321-3884561 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 3866159 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 244 (C244*)

Ref Sequence

ENSEMBL: ENSMUSP00000088009 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000090522
AA Change: C244*

SMART Domains

Protein: ENSMUSP00000088009
Gene: ENSMUSG00000039789
AA Change: C244*

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

noncoding transcript
Transcript: ENSMUST00000175990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181068

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	T	A	6: 40,968,188	D200E	probably damaging	Het
4930578I06Rik	C	A	14: 63,973,242	R179L	probably damaging	Het
Abhd5	A	G	9: 122,363,803		probably null	Het
Ankrd60	TGGCCACGCGG	TGG	2: 173,578,089		probably null	Het
Ano5	G	A	7: 51,566,318	D348N	possibly damaging	Het
Apob	C	T	12: 8,015,304	T4091I	possibly damaging	Het
Avil	G	A	10: 127,016,499		probably null	Het
C530008M17Rik	T	C	5: 76,866,196		probably null	Het
Cacna1a	T	C	8: 84,415,721		probably benign	Het
Capn7	T	C	14: 31,360,145	L436P	probably damaging	Het
Ccdc33	A	G	9: 58,029,952	S655P	possibly damaging	Het
Ccr6	T	C	17: 8,256,412	S150P	probably damaging	Het
Cd1d1	T	C	3: 86,998,788	N60S	probably benign	Het
Ckap5	A	G	2: 91,616,296		probably null	Het
Col15a1	A	G	4: 47,280,865	E753G	possibly damaging	Het
Col1a2	C	T	6: 4,530,223	R699W	unknown	Het
Csf2rb	T	C	15: 78,348,955	Y821H	probably damaging	Het
Cyp3a11	A	G	5: 145,862,474	I301T	possibly damaging	Het
Dpp3	C	T	19: 4,918,322	G241R	possibly damaging	Het
Dpyd	G	T	3: 119,427,237	M952I	probably damaging	Het
Dsg3	A	T	18: 20,521,571	I111L	possibly damaging	Het
Ect2	A	G	3: 27,146,953	F123L	probably damaging	Het
Ehmt2	G	C	17: 34,910,743	D961H	probably damaging	Het
Esp1	A	G	17: 40,730,918	I34V	probably benign	Het
Fam171b	G	A	2: 83,878,236	V361I	probably benign	Het
Flnc	T	A	6: 29,459,537	Y2545*	probably null	Het
Fmo4	C	T	1: 162,803,717	G227D	probably benign	Het
Grn	C	T	11: 102,434,043	Q153*	probably null	Het
H2-DMb1	T	G	17: 34,153,434	S12R	possibly damaging	Het
Ica1	G	T	6: 8,672,391	N203K	possibly damaging	Het
Kdm4c	C	A	4: 74,359,485	T792K	probably damaging	Het
Kif19a	T	A	11: 114,779,223	Y81*	probably null	Het
Kifc2	G	T	15: 76,664,378	C440F	probably damaging	Het
Lpin2	A	G	17: 71,230,273	T234A	probably benign	Het
Lysmd2	C	A	9: 75,635,603	P164Q	probably benign	Het
Maea	T	A	5: 33,368,683	D234E	probably benign	Het
Map4k1	T	A	7: 29,000,020	V572E	probably damaging	Het
Med6	C	T	12: 81,573,959	G166R	probably null	Het
Mtmr10	T	C	7: 64,337,710	I666T	probably damaging	Het
Myh14	T	A	7: 44,613,463	K1777M	probably benign	Het
Naip6	G	T	13: 100,300,216	Q600K	probably benign	Het
Obscn	A	G	11: 59,032,691	S6461P	probably damaging	Het
Olfr350	T	C	2: 36,850,049	M1T	probably null	Het
Osbpl7	T	A	11: 97,065,832	V567E	probably damaging	Het
Rad51ap2	A	T	12: 11,456,920	D281V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpl24	C	A	16: 55,967,153	H59N	possibly damaging	Het
Rtl1	G	A	12: 109,592,619	L929F	possibly damaging	Het
Runx3	C	T	4: 135,163,264	T159I	probably damaging	Het
Serpine2	T	C	1: 79,816,920	I99V	probably benign	Het
Slc12a6	C	A	2: 112,284,722	P12Q	probably benign	Het
Slc25a18	T	C	6: 120,792,074	L184P	probably damaging	Het
Smg1	T	C	7: 118,212,897	D57G	probably benign	Het
Spdye4c	T	A	2: 128,596,841	*340K	probably null	Het
Srsf5	G	A	12: 80,949,537	E162K	possibly damaging	Het
Ssc5d	T	C	7: 4,936,818	V751A	probably benign	Het
Tcf3	T	C	10: 80,419,499	N157S	probably benign	Het
Tdrd7	T	C	4: 45,989,082	V71A	probably benign	Het
Tex14	T	C	11: 87,514,295	C678R	probably damaging	Het
Tgm3	A	T	2: 130,026,784	K214*	probably null	Het
Vps53	A	G	11: 76,063,007	I659T	probably benign	Het
Zfp933	T	A	4: 147,828,407		probably null	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
R5128:Zfp597	UTSW	16	3872124	unclassified	probably benign
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
R7963:Zfp597	UTSW	16	3871158	missense	probably benign	0.02
R7976:Zfp597	UTSW	16	3866511	missense	possibly damaging	0.82
Z1176:Zfp597	UTSW	16	3866129	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAAGGTCTTCACACAGTG -3'
(R):5'- AAGTTCCTTGGGAAGAAGCC -3'

Sequencing Primer
(F):5'- ACAGTGTGTGTGCTGGGG -3'
(R):5'- ACAAGTGTCCTGACTGTGAC -3'

Posted On

2016-12-15