Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Zfp597'

365931

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp597

Ensembl Gene

ENSMUSG00000039789

Gene Name

zinc finger protein 597

Synonyms

4933407K12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

Chromosomal Location

3679408-3702241 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3683805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 317 (S317L)

Ref Sequence

ENSEMBL: ENSMUSP00000088009 (fasta)

Gene Model

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

AlphaFold

E9Q6S0

Predicted Effect

probably benign
Transcript: ENSMUST00000090522
AA Change: S317L

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000088009
Gene: ENSMUSG00000039789
AA Change: S317L

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6ap1	A	G	X: 73,340,924 (GRCm39)	D47G	probably benign	Het
Atr	T	C	9: 95,747,314 (GRCm39)	F199L	probably benign	Het
Bivm	C	A	1: 44,182,120 (GRCm39)	H443N	probably benign	Het
Btnl2	A	T	17: 34,580,043 (GRCm39)	H192L	probably benign	Het
Ccdc178	A	T	18: 22,253,775 (GRCm39)	C155S	probably benign	Het
Celsr1	C	A	15: 85,785,673 (GRCm39)	V2934L	probably benign	Het
Celsr3	T	C	9: 108,726,652 (GRCm39)	S3294P	probably damaging	Het
Ddx10	T	A	9: 53,115,579 (GRCm39)	E585V	possibly damaging	Het
Elapor2	T	C	5: 9,511,478 (GRCm39)	Y947H	probably damaging	Het
Eps15l1	A	T	8: 73,138,606 (GRCm39)		probably benign	Het
Erlin1	G	T	19: 44,051,491 (GRCm39)	T70K	probably damaging	Het
Ext2	A	T	2: 93,534,964 (GRCm39)		probably null	Het
Fam124a	G	A	14: 62,793,368 (GRCm39)		probably null	Het
Fam53a	T	C	5: 33,765,103 (GRCm39)	D201G	probably damaging	Het
Fgf14	C	T	14: 124,369,891 (GRCm39)	G136D	possibly damaging	Het
Gdi2	A	T	13: 3,614,623 (GRCm39)	T323S	probably benign	Het
Gemin5	A	T	11: 58,047,556 (GRCm39)	N339K	probably damaging	Het
Golga4	A	G	9: 118,364,522 (GRCm39)	E286G	probably benign	Het
Golga4	A	C	9: 118,363,700 (GRCm39)	K233T	probably damaging	Het
Gosr1	A	G	11: 76,641,732 (GRCm39)		probably benign	Het
Haus8	A	G	8: 71,708,361 (GRCm39)		probably benign	Het
Itgb3bp	T	C	4: 99,690,373 (GRCm39)	T49A	probably null	Het
Ldlrad4	A	G	18: 68,387,585 (GRCm39)	D299G	probably damaging	Het
Lpo	A	G	11: 87,706,004 (GRCm39)	M273T	possibly damaging	Het
Map3k4	T	A	17: 12,491,036 (GRCm39)	S132C	probably damaging	Het
Mycbp2	T	G	14: 103,414,715 (GRCm39)	T2566P	probably benign	Het
Nalcn	T	C	14: 123,536,284 (GRCm39)	E1255G	probably null	Het
Nop56	A	T	2: 130,120,117 (GRCm39)	K157N	probably damaging	Het
Or10g9	C	T	9: 39,912,194 (GRCm39)	E110K	probably benign	Het
Or6c1	A	T	10: 129,517,857 (GRCm39)	Y250*	probably null	Het
Pcdh15	A	G	10: 74,340,648 (GRCm39)		probably benign	Het
Pi4ka	T	C	16: 17,172,074 (GRCm39)	H557R	probably damaging	Het
Plekha4	C	T	7: 45,181,787 (GRCm39)	Q64*	probably null	Het
Ppp2r3c	G	A	12: 55,345,192 (GRCm39)		probably benign	Het
Rgmb	C	T	17: 16,027,755 (GRCm39)	M321I	probably benign	Het
Rnf31	T	C	14: 55,833,131 (GRCm39)	S363P	probably benign	Het
Sap18b	T	A	8: 96,552,329 (GRCm39)	M113K	probably benign	Het
Scara3	T	A	14: 66,169,105 (GRCm39)	M171L	probably benign	Het
Slc9a2	T	G	1: 40,781,863 (GRCm39)	M364R	probably damaging	Het
Sorcs1	C	T	19: 50,666,368 (GRCm39)	W180*	probably null	Het
Stat6	T	A	10: 127,482,809 (GRCm39)	M10K	probably benign	Het
Sun1	T	C	5: 139,221,243 (GRCm39)		probably benign	Het
Tead2	T	C	7: 44,869,858 (GRCm39)		probably benign	Het
Tjp1	T	G	7: 64,964,638 (GRCm39)	E844D	probably damaging	Het
Tmtc2	A	G	10: 105,206,411 (GRCm39)	S295P	probably damaging	Het
Ttn	G	A	2: 76,612,756 (GRCm39)	R17108C	probably damaging	Het
Ubr1	T	C	2: 120,711,664 (GRCm39)		probably null	Het
Vmn2r108	T	A	17: 20,691,545 (GRCm39)	H326L	probably benign	Het
Xdh	A	G	17: 74,250,840 (GRCm39)		probably null	Het
Zfp385b	A	G	2: 77,242,403 (GRCm39)	S439P	probably benign	Het
Zfp638	A	G	6: 83,946,214 (GRCm39)	D1081G	probably damaging	Het
Zfp93	C	T	7: 23,974,509 (GRCm39)	H165Y	possibly damaging	Het

Other mutations in Zfp597

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02972:Zfp597	APN	16	3,684,387 (GRCm39)	missense	probably benign	0.20
IGL03289:Zfp597	APN	16	3,683,786 (GRCm39)	missense	possibly damaging	0.95
R0336:Zfp597	UTSW	16	3,684,243 (GRCm39)	missense	probably benign	0.15
R0621:Zfp597	UTSW	16	3,684,228 (GRCm39)	missense	probably benign	0.01
R4270:Zfp597	UTSW	16	3,689,954 (GRCm39)	start codon destroyed	probably null	1.00
R4361:Zfp597	UTSW	16	3,683,764 (GRCm39)	missense	probably damaging	1.00
R4774:Zfp597	UTSW	16	3,683,851 (GRCm39)	missense	probably benign	0.04
R5033:Zfp597	UTSW	16	3,684,502 (GRCm39)	missense	probably damaging	1.00
R5128:Zfp597	UTSW	16	3,689,988 (GRCm39)	unclassified	probably benign
R5786:Zfp597	UTSW	16	3,684,023 (GRCm39)	nonsense	probably null
R5940:Zfp597	UTSW	16	3,683,685 (GRCm39)	missense	probably damaging	0.99
R7007:Zfp597	UTSW	16	3,683,791 (GRCm39)	missense	probably benign	0.25
R7008:Zfp597	UTSW	16	3,683,631 (GRCm39)	missense	probably benign
R7392:Zfp597	UTSW	16	3,684,369 (GRCm39)	missense	probably benign	0.00
R7963:Zfp597	UTSW	16	3,689,022 (GRCm39)	missense	probably benign	0.02
R7976:Zfp597	UTSW	16	3,684,375 (GRCm39)	missense	possibly damaging	0.82
Z1176:Zfp597	UTSW	16	3,683,993 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18