Mutagenetix > Incidental Mutation

Incidental Mutation 'R0491:Zfp595'

42494

Institutional Source

Beutler Lab

Gene Symbol

Zfp595

Ensembl Gene

ENSMUSG00000057842

Gene Name

zinc finger protein 595

Synonyms

A230042K10Rik

MMRRC Submission

038689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67461062-67480634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67465369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 298 (G298E)

Ref Sequence

ENSEMBL: ENSMUSP00000127010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044819] [ENSMUST00000109735] [ENSMUST00000168892] [ENSMUST00000169142] [ENSMUST00000171466]

AlphaFold

Q8BIN6

Predicted Effect

probably benign
Transcript: ENSMUST00000044819

SMART Domains

Protein: ENSMUSP00000049225
Gene: ENSMUSG00000098781

Domain	Start	End	E-Value	Type
KRAB	5	65	1.15e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109735
AA Change: G301E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: G301E

Domain	Start	End	E-Value	Type
KRAB	5	65	1.57e-30	SMART
ZnF_C2H2	81	103	2.09e-3	SMART
ZnF_C2H2	109	131	6.57e-1	SMART
ZnF_C2H2	137	159	4.38e1	SMART
ZnF_C2H2	165	187	2.91e-2	SMART
ZnF_C2H2	193	215	2.36e-2	SMART
ZnF_C2H2	221	243	2.79e-4	SMART
PHD	222	283	4.64e0	SMART
ZnF_C2H2	249	271	4.47e-3	SMART
ZnF_C2H2	277	299	7.26e-3	SMART
ZnF_C2H2	305	327	4.54e-4	SMART
ZnF_C2H2	333	355	8.94e-3	SMART
PHD	334	395	1.2e1	SMART
ZnF_C2H2	361	383	2.02e-1	SMART
ZnF_C2H2	389	411	2.75e-3	SMART
ZnF_C2H2	417	439	1.26e-2	SMART
ZnF_C2H2	445	467	1.04e-3	SMART
PHD	446	507	1.12e0	SMART
ZnF_C2H2	473	495	4.79e-3	SMART
ZnF_C2H2	501	523	2.09e-3	SMART
ZnF_C2H2	529	551	2.95e-3	SMART
ZnF_C2H2	557	579	5.14e-3	SMART
ZnF_C2H2	585	607	2.95e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133177

Predicted Effect

probably damaging
Transcript: ENSMUST00000168892
AA Change: G301E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: G301E

Domain	Start	End	E-Value	Type
KRAB	5	65	1.57e-30	SMART
ZnF_C2H2	81	103	2.09e-3	SMART
ZnF_C2H2	109	131	6.57e-1	SMART
ZnF_C2H2	137	159	4.38e1	SMART
ZnF_C2H2	165	187	2.91e-2	SMART
ZnF_C2H2	193	215	2.36e-2	SMART
ZnF_C2H2	221	243	2.79e-4	SMART
PHD	222	283	4.64e0	SMART
ZnF_C2H2	249	271	4.47e-3	SMART
ZnF_C2H2	277	299	7.26e-3	SMART
ZnF_C2H2	305	327	4.54e-4	SMART
ZnF_C2H2	333	355	8.94e-3	SMART
PHD	334	395	1.2e1	SMART
ZnF_C2H2	361	383	2.02e-1	SMART
ZnF_C2H2	389	411	2.75e-3	SMART
ZnF_C2H2	417	439	1.26e-2	SMART
ZnF_C2H2	445	467	1.04e-3	SMART
PHD	446	507	1.12e0	SMART
ZnF_C2H2	473	495	4.79e-3	SMART
ZnF_C2H2	501	523	2.09e-3	SMART
ZnF_C2H2	529	551	2.95e-3	SMART
ZnF_C2H2	557	579	5.14e-3	SMART
ZnF_C2H2	585	607	2.95e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169142
AA Change: G301E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: G301E

Domain	Start	End	E-Value	Type
KRAB	5	65	1.57e-30	SMART
ZnF_C2H2	81	103	2.09e-3	SMART
ZnF_C2H2	109	131	6.57e-1	SMART
ZnF_C2H2	137	159	4.38e1	SMART
ZnF_C2H2	165	187	2.91e-2	SMART
ZnF_C2H2	193	215	2.36e-2	SMART
ZnF_C2H2	221	243	2.79e-4	SMART
PHD	222	283	4.64e0	SMART
ZnF_C2H2	249	271	4.47e-3	SMART
ZnF_C2H2	277	299	7.26e-3	SMART
ZnF_C2H2	305	327	4.54e-4	SMART
ZnF_C2H2	333	355	8.94e-3	SMART
PHD	334	395	1.2e1	SMART
ZnF_C2H2	361	383	2.02e-1	SMART
ZnF_C2H2	389	411	2.75e-3	SMART
ZnF_C2H2	417	439	1.26e-2	SMART
ZnF_C2H2	445	467	1.04e-3	SMART
PHD	446	507	1.12e0	SMART
ZnF_C2H2	473	495	4.79e-3	SMART
ZnF_C2H2	501	523	2.09e-3	SMART
ZnF_C2H2	529	551	2.95e-3	SMART
ZnF_C2H2	557	579	5.14e-3	SMART
ZnF_C2H2	585	607	2.95e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170543

Predicted Effect

probably damaging
Transcript: ENSMUST00000171466
AA Change: G298E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: G298E

Domain	Start	End	E-Value	Type
KRAB	2	62	1.57e-30	SMART
ZnF_C2H2	78	100	2.09e-3	SMART
ZnF_C2H2	106	128	6.57e-1	SMART
ZnF_C2H2	134	156	4.38e1	SMART
ZnF_C2H2	162	184	2.91e-2	SMART
ZnF_C2H2	190	212	2.36e-2	SMART
ZnF_C2H2	218	240	2.79e-4	SMART
PHD	219	280	4.64e0	SMART
ZnF_C2H2	246	268	4.47e-3	SMART
ZnF_C2H2	274	296	7.26e-3	SMART
ZnF_C2H2	302	324	4.54e-4	SMART
ZnF_C2H2	330	352	8.94e-3	SMART
PHD	331	392	1.2e1	SMART
ZnF_C2H2	358	380	2.02e-1	SMART
ZnF_C2H2	386	408	2.75e-3	SMART
ZnF_C2H2	414	436	1.26e-2	SMART
ZnF_C2H2	442	464	1.04e-3	SMART
PHD	443	504	1.12e0	SMART
ZnF_C2H2	470	492	4.79e-3	SMART
ZnF_C2H2	498	520	2.09e-3	SMART
ZnF_C2H2	526	548	2.95e-3	SMART
ZnF_C2H2	554	576	5.14e-3	SMART
ZnF_C2H2	582	604	2.95e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,248,235 (GRCm39)	F2661L	probably benign	Het
Acadsb	A	G	7: 131,031,836 (GRCm39)	D224G	probably benign	Het
Acsm1	A	G	7: 119,239,920 (GRCm39)	H288R	probably damaging	Het
Adamts2	A	G	11: 50,667,457 (GRCm39)	D465G	probably damaging	Het
Akap9	A	T	5: 4,022,851 (GRCm39)		probably benign	Het
Alms1	A	G	6: 85,679,582 (GRCm39)	T3240A	probably damaging	Het
Ap3d1	A	G	10: 80,555,075 (GRCm39)	W417R	probably damaging	Het
Arfgef1	C	A	1: 10,250,212 (GRCm39)		probably benign	Het
Atf6	A	G	1: 170,614,913 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,016,746 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,287,515 (GRCm39)	F740L	probably benign	Het
Clec12a	T	A	6: 129,341,016 (GRCm39)	D265E	probably benign	Het
Clic3	T	A	2: 25,347,797 (GRCm39)		probably benign	Het
Cntnap3	T	G	13: 64,909,859 (GRCm39)	T749P	probably benign	Het
Col11a2	T	A	17: 34,261,186 (GRCm39)	D45E	probably null	Het
Cplane1	T	A	15: 8,211,727 (GRCm39)	S356T	probably damaging	Het
Crxos	T	A	7: 15,632,460 (GRCm39)	S89T	probably benign	Het
Cxcr1	G	T	1: 74,231,468 (GRCm39)	P185T	possibly damaging	Het
Cyp20a1	T	A	1: 60,410,486 (GRCm39)	N262K	possibly damaging	Het
Dennd2b	T	A	7: 109,156,411 (GRCm39)	Q113L	probably benign	Het
Dpy19l2	T	C	9: 24,607,324 (GRCm39)	R46G	probably benign	Het
Dpysl2	A	T	14: 67,045,411 (GRCm39)	L454Q	probably damaging	Het
Dvl3	C	T	16: 20,346,173 (GRCm39)		probably benign	Het
Eppin	T	A	2: 164,431,332 (GRCm39)	E98V	possibly damaging	Het
Fancm	A	T	12: 65,152,835 (GRCm39)	H1097L	probably benign	Het
Fkbp4	A	G	6: 128,412,705 (GRCm39)	I75T	probably damaging	Het
Fmn2	A	G	1: 174,409,525 (GRCm39)	H586R	unknown	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Haus6	A	C	4: 86,521,083 (GRCm39)	V185G	possibly damaging	Het
Herc2	T	A	7: 55,772,114 (GRCm39)	C1098S	possibly damaging	Het
Hic1	C	A	11: 75,057,136 (GRCm39)	L584F	possibly damaging	Het
Itgb1bp1	C	A	12: 21,326,896 (GRCm39)		probably benign	Het
Kbtbd2	G	A	6: 56,757,374 (GRCm39)	R121*	probably null	Het
Lgr4	C	T	2: 109,837,626 (GRCm39)		probably benign	Het
Lrrc55	T	C	2: 85,022,264 (GRCm39)	E309G	probably damaging	Het
Mertk	T	C	2: 128,635,027 (GRCm39)		probably null	Het
Micu3	A	G	8: 40,819,294 (GRCm39)		probably benign	Het
Mmp11	G	A	10: 75,762,592 (GRCm39)	A287V	probably benign	Het
Mpzl2	A	G	9: 44,954,039 (GRCm39)	Y47C	probably damaging	Het
Muc5b	A	C	7: 141,415,752 (GRCm39)	R2899S	probably benign	Het
Myo1b	A	G	1: 51,794,857 (GRCm39)	Y1078H	probably benign	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Ncapd3	T	G	9: 26,969,179 (GRCm39)	V611G	probably damaging	Het
Ntpcr	C	T	8: 126,464,093 (GRCm39)	R73*	probably null	Het
Or4c120	A	T	2: 89,000,704 (GRCm39)	V284E	probably benign	Het
Or5b119	G	A	19: 13,456,857 (GRCm39)	A235V	probably damaging	Het
Osbp2	A	G	11: 3,664,709 (GRCm39)	F88S	probably damaging	Het
Pkn3	A	T	2: 29,979,889 (GRCm39)	T711S	probably damaging	Het
Plekhm1	T	C	11: 103,285,602 (GRCm39)	K278E	probably benign	Het
Ppp1r36	A	G	12: 76,486,065 (GRCm39)	T408A	probably benign	Het
Prss41	T	C	17: 24,061,477 (GRCm39)	T105A	possibly damaging	Het
Psme1	G	T	14: 55,817,378 (GRCm39)		probably benign	Het
Ptprq	A	T	10: 107,444,036 (GRCm39)	Y1523N	probably damaging	Het
Ric8b	A	G	10: 84,828,086 (GRCm39)	D470G	probably damaging	Het
Scarb1	A	G	5: 125,375,795 (GRCm39)		probably benign	Het
Slc25a54	G	A	3: 109,010,112 (GRCm39)	A204T	probably damaging	Het
Spink10	T	C	18: 62,793,036 (GRCm39)	C67R	probably damaging	Het
Tmtc1	A	T	6: 148,314,138 (GRCm39)		probably null	Het
Tprkb	A	G	6: 85,901,446 (GRCm39)	D28G	probably benign	Het
Ttll13	A	G	7: 79,910,098 (GRCm39)	H747R	probably benign	Het
Usp24	A	G	4: 106,259,302 (GRCm39)	S1608G	probably benign	Het
Utp20	A	T	10: 88,596,774 (GRCm39)	F2115L	probably damaging	Het
Vmn1r200	A	T	13: 22,579,361 (GRCm39)	I46L	probably benign	Het
Zdhhc8	A	T	16: 18,046,254 (GRCm39)	M103K	probably damaging	Het
Zfp738	T	G	13: 67,818,140 (GRCm39)	H617P	possibly damaging	Het
Zfp9	A	T	6: 118,442,163 (GRCm39)	H166Q	probably damaging	Het
Zp3r	C	A	1: 130,546,071 (GRCm39)	D80Y	probably damaging	Het

Other mutations in Zfp595

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Zfp595	APN	13	67,464,749 (GRCm39)	nonsense	probably null
IGL01572:Zfp595	APN	13	67,465,465 (GRCm39)	missense	possibly damaging	0.58
IGL01836:Zfp595	APN	13	67,480,525 (GRCm39)	utr 5 prime	probably benign
IGL01924:Zfp595	APN	13	67,465,847 (GRCm39)	missense	possibly damaging	0.93
IGL02171:Zfp595	APN	13	67,464,719 (GRCm39)	missense	possibly damaging	0.61
IGL02376:Zfp595	APN	13	67,464,514 (GRCm39)	missense	possibly damaging	0.80
IGL02651:Zfp595	APN	13	67,469,017 (GRCm39)	missense	probably benign	0.00
PIT4581001:Zfp595	UTSW	13	67,465,949 (GRCm39)	missense	probably benign	0.00
R0071:Zfp595	UTSW	13	67,464,917 (GRCm39)	missense	possibly damaging	0.55
R0111:Zfp595	UTSW	13	67,468,984 (GRCm39)	missense	possibly damaging	0.90
R0319:Zfp595	UTSW	13	67,464,577 (GRCm39)	missense	possibly damaging	0.92
R1162:Zfp595	UTSW	13	67,465,259 (GRCm39)	missense	probably damaging	1.00
R1559:Zfp595	UTSW	13	67,465,127 (GRCm39)	missense	possibly damaging	0.93
R3118:Zfp595	UTSW	13	67,468,963 (GRCm39)	missense	probably benign	0.00
R3901:Zfp595	UTSW	13	67,465,379 (GRCm39)	missense	probably benign	0.13
R4738:Zfp595	UTSW	13	67,465,229 (GRCm39)	missense	probably benign	0.11
R4866:Zfp595	UTSW	13	67,465,760 (GRCm39)	missense	probably damaging	1.00
R4993:Zfp595	UTSW	13	67,464,465 (GRCm39)	missense	probably damaging	0.99
R5987:Zfp595	UTSW	13	67,465,688 (GRCm39)	missense	probably damaging	1.00
R6684:Zfp595	UTSW	13	67,468,341 (GRCm39)	missense	probably damaging	1.00
R7099:Zfp595	UTSW	13	67,465,711 (GRCm39)	missense	probably damaging	1.00
R7593:Zfp595	UTSW	13	67,464,823 (GRCm39)	missense	probably benign	0.00
R7657:Zfp595	UTSW	13	67,465,817 (GRCm39)	missense	probably damaging	1.00
R7828:Zfp595	UTSW	13	67,465,769 (GRCm39)	missense	probably damaging	1.00
R8295:Zfp595	UTSW	13	67,464,764 (GRCm39)	missense	possibly damaging	0.64
R8544:Zfp595	UTSW	13	67,465,244 (GRCm39)	missense	probably damaging	1.00
R9029:Zfp595	UTSW	13	67,468,989 (GRCm39)	missense	probably benign	0.00
R9103:Zfp595	UTSW	13	67,464,676 (GRCm39)	missense	probably damaging	0.99
R9332:Zfp595	UTSW	13	67,465,463 (GRCm39)	missense	probably damaging	0.99
R9432:Zfp595	UTSW	13	67,465,407 (GRCm39)	nonsense	probably null
R9499:Zfp595	UTSW	13	67,465,067 (GRCm39)	missense	probably damaging	1.00
R9551:Zfp595	UTSW	13	67,465,067 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-05-23