Mutagenetix > Incidental Mutations

Incidental Mutation 'R7008:Zfp597'

544857

Institutional Source

Beutler Lab

Gene Symbol

Zfp597

Ensembl Gene

ENSMUSG00000039789

Gene Name

zinc finger protein 597

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3858321-3884561 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3865767 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 375 (F375S)

Ref Sequence

ENSEMBL: ENSMUSP00000088009 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000090522
AA Change: F375S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088009
Gene: ENSMUSG00000039789
AA Change: F375S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	A	5: 90,260,096	I1421F	possibly damaging	Het
Arhgef11	C	A	3: 87,729,218	T992K	possibly damaging	Het
Arid1b	T	C	17: 5,290,979	Y853H	probably damaging	Het
Bcl10	G	T	3: 145,933,299	R232L	probably benign	Het
Best2	T	A	8: 85,013,211	I76F	possibly damaging	Het
Card11	G	C	5: 140,873,393	R1133G	probably damaging	Het
Card9	T	C	2: 26,357,799	D180G	possibly damaging	Het
Ccdc162	T	A	10: 41,552,415	E119V	probably damaging	Het
Cd2bp2	T	C	7: 127,195,395	D15G	possibly damaging	Het
Cdk7	A	C	13: 100,717,621	M120R	probably damaging	Het
Cryba4	T	A	5: 112,251,782	T2S	probably benign	Het
Cyp19a1	A	T	9: 54,193,325	M26K	probably benign	Het
Dgcr2	A	G	16: 17,845,001	S157P	probably damaging	Het
Dis3l	A	G	9: 64,310,453	F782S	possibly damaging	Het
Ephb4	T	A	5: 137,361,274	S369T	probably benign	Het
Fhad1	CGG	CG	4: 141,918,291		probably null	Het
Gm8251	T	C	1: 44,059,625	D771G	probably benign	Het
Hist1h1e	T	C	13: 23,622,209	K97E	probably damaging	Het
Igf2bp2	A	T	16: 22,081,832	D118E	probably benign	Het
Iqgap3	GGAGAG	GGAG	3: 88,112,771		probably null	Het
Klhl5	T	C	5: 65,143,249	S52P	probably benign	Het
Lrrc28	A	T	7: 67,595,711		probably benign	Het
Map4k4	T	G	1: 39,988,971	D317E	probably benign	Het
Maz	A	T	7: 127,024,612	C66S	probably damaging	Het
Mbd4	T	C	6: 115,850,724	T43A	possibly damaging	Het
Milr1	T	A	11: 106,751,314	S11T	probably damaging	Het
Mthfd2l	T	A	5: 90,959,728	C150S	probably damaging	Het
Nemf	A	T	12: 69,341,621	N325K	possibly damaging	Het
Nemf	C	T	12: 69,353,793		probably null	Het
Nod2	T	A	8: 88,663,657	C197*	probably null	Het
Odf2l	A	G	3: 145,132,734	K241E	probably damaging	Het
Olfr1427	G	A	19: 12,098,850	T263I	possibly damaging	Het
Olfr1489	A	T	19: 13,633,621	N170I	probably damaging	Het
Osbpl10	T	G	9: 115,061,848	D101E	probably damaging	Het
Osgin1	T	C	8: 119,441,494	V20A	possibly damaging	Het
Pan3	T	A	5: 147,545,693	C438S	probably damaging	Het
Plaa	A	G	4: 94,569,349	*795Q	probably null	Het
Prss35	T	C	9: 86,756,308	V377A	probably benign	Het
Rab5c	G	A	11: 100,719,963	R40C	probably damaging	Het
Rasl12	G	A	9: 65,410,869	V172M	probably damaging	Het
Rdh16f1	A	G	10: 127,790,906	H276R	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Sez6l	T	C	5: 112,464,695	Y460C	probably damaging	Het
Sipa1l1	T	G	12: 82,363,112	M600R	probably damaging	Het
Slc11a2	T	C	15: 100,409,324	Y92C	probably damaging	Het
Slc4a10	A	G	2: 62,286,922	T712A	probably benign	Het
Sntb1	A	T	15: 55,792,072	Y249*	probably null	Het
Spatc1	A	G	15: 76,283,723	I127M	probably benign	Het
Synj1	A	T	16: 90,993,945	N109K	probably damaging	Het
Tdg	T	A	10: 82,648,641	M396K	possibly damaging	Het
Tmem173	C	A	18: 35,735,171	R292L	probably damaging	Het
Tmem252	T	C	19: 24,674,292	V75A	probably damaging	Het
Trim40	T	C	17: 36,883,976	Q142R	probably damaging	Het
Trip6	T	C	5: 137,312,966	T163A	probably damaging	Het
Ttn	T	C	2: 76,894,642		probably benign	Het
Wdr95	T	C	5: 149,611,540	L721P	probably benign	Het
Zfp385c	A	T	11: 100,630,687	D182E	probably damaging	Het
Zfp658	T	G	7: 43,573,912	F537C	possibly damaging	Het
Zgrf1	T	C	3: 127,561,772	F216L	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
R5128:Zfp597	UTSW	16	3872124	unclassified	probably benign
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
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'- ACTGAAGAGCCCAATTCGAGC -3'
(R):5'- GTGTGAAGACCTTGGAGCAG -3'

Sequencing Primer
(F):5'- GAGCCCAATTCGAGCAAAGGC -3'
(R):5'- AAGACCTTGGAGCAGCCCTC -3'

Posted On

2019-05-13