Mutagenetix > Incidental Mutations

Incidental Mutation 'R4738:Zfp595'

359459

Institutional Source

Beutler Lab

Gene Symbol

Zfp595

Ensembl Gene

ENSMUSG00000057842

Gene Name

zinc finger protein 595

Synonyms

MMRRC Submission

041964-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67312998-67332570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 67317165 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 345 (F345I)

Ref Sequence

ENSEMBL: ENSMUSP00000127010 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000109735
AA Change: F348I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: F348I

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 benign
Transcript: ENSMUST00000168892
AA Change: F348I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: F348I

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 benign
Transcript: ENSMUST00000169142
AA Change: F348I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: F348I

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 benign
Transcript: ENSMUST00000171466
AA Change: F345I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: F345I

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

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 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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,973,983	I176T	probably benign	Het
Angpt2	C	T	8: 18,741,059	D74N	probably benign	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Areg	T	C	5: 91,146,724	I247T	possibly damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,103,410	S246T	probably benign	Het
Atp8b1	T	C	18: 64,545,180	R882G	probably benign	Het
Atp9a	A	G	2: 168,668,181	V444A	probably benign	Het
Babam2	T	A	5: 31,901,142	Y211N	probably damaging	Het
Btbd11	C	T	10: 85,627,248	Q626*	probably null	Het
Ccdc127	T	G	13: 74,357,068		probably benign	Het
Cep192	A	T	18: 67,884,830	K2500*	probably null	Het
Cnot4	T	C	6: 35,051,376	N435S	probably benign	Het
Col12a1	T	C	9: 79,699,282	I620V	probably damaging	Het
Cyth4	G	A	15: 78,605,874	M62I	probably benign	Het
Dbt	T	C	3: 116,539,132	I200T	probably damaging	Het
Dchs1	C	T	7: 105,758,673	R1984Q	probably damaging	Het
Depdc5	A	G	5: 32,975,322	M1237V	probably benign	Het
Disp2	A	G	2: 118,790,326	Y513C	probably damaging	Het
Dph7	T	C	2: 24,963,131	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,430,078	M384K	probably benign	Het
Emc1	G	T	4: 139,362,202	G227V	possibly damaging	Het
Eri2	A	G	7: 119,787,732		probably null	Het
Frzb	A	G	2: 80,424,597		probably null	Het
Ganc	T	A	2: 120,452,594	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,054,747		probably benign	Het
Gm3086	A	T	12: 69,969,381		probably benign	Het
Gsdmc2	A	T	15: 63,826,801	Y315*	probably null	Het
Haus6	A	G	4: 86,600,749		probably null	Het
Hhip	C	T	8: 79,992,570	D443N	probably damaging	Het
Isg15	T	C	4: 156,199,862	M70V	probably benign	Het
Kank2	T	C	9: 21,774,619	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,283,133	R345S	probably benign	Het
Larp7	A	G	3: 127,546,045		probably null	Het
Lgals12	A	G	19: 7,604,099	V81A	probably benign	Het
Lhx9	A	G	1: 138,832,748	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,026,999	H213L	probably damaging	Het
Met	T	C	6: 17,491,541	C101R	probably damaging	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Neb	A	C	2: 52,187,482	S1846A	probably damaging	Het
Nr3c2	T	C	8: 76,909,307	S346P	possibly damaging	Het
Olfr1564	A	G	17: 33,215,810	F178S	probably benign	Het
Olfr187	T	C	16: 59,036,195	I181V	probably benign	Het
Olfr376	G	T	11: 73,375,350	L200F	possibly damaging	Het
Olfr487	A	T	7: 108,211,994	N178K	probably damaging	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Osbpl10	A	G	9: 115,216,574	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,979,918	V210A	probably damaging	Het
Pam	A	T	1: 97,923,132	V167D	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pbx4	C	T	8: 69,864,969	T201M	probably damaging	Het
Pcdhb9	T	C	18: 37,403,415	C821R	probably benign	Het
Plekhg3	T	C	12: 76,576,914	I976T	probably damaging	Het
Pold1	G	A	7: 44,541,329	R304C	probably damaging	Het
Prss38	T	C	11: 59,372,945	T314A	probably benign	Het
Psph	T	C	5: 129,769,386		probably null	Het
Ptprj	G	A	2: 90,440,643	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,934,436	E648G	probably damaging	Het
Ralgds	A	G	2: 28,545,416	E465G	probably damaging	Het
Rfng	T	C	11: 120,783,964	T67A	probably damaging	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Rps6kl1	G	T	12: 85,140,387	F181L	probably benign	Het
Spata46	G	A	1: 170,311,886	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,477,980	N124K	probably damaging	Het
Sspo	C	T	6: 48,478,396	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,797,089	I231T	probably damaging	Het
Tff3	G	A	17: 31,127,509	P30S	probably benign	Het
Thg1l	C	T	11: 45,954,191	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,256,882	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,090,502	T14A	probably damaging	Het
Tspan17	T	A	13: 54,795,064	C116*	probably null	Het
Ttn	T	C	2: 76,880,546		probably benign	Het
Tyr	T	C	7: 87,492,647	Y158C	probably null	Het
U2af1l4	G	T	7: 30,563,348		probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,447,070	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,239,076	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,464,142		probably null	Het
Zfp521	T	C	18: 13,844,054	K1101E	possibly damaging	Het
Zswim2	T	A	2: 83,915,395	R566S	probably benign	Het

Other mutations in Zfp595

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Zfp595	APN	13	67316685	nonsense	probably null
IGL01572:Zfp595	APN	13	67317401	missense	possibly damaging	0.58
IGL01836:Zfp595	APN	13	67332461	utr 5 prime	probably benign
IGL01924:Zfp595	APN	13	67317783	missense	possibly damaging	0.93
IGL02171:Zfp595	APN	13	67316655	missense	possibly damaging	0.61
IGL02376:Zfp595	APN	13	67316450	missense	possibly damaging	0.80
IGL02651:Zfp595	APN	13	67320953	missense	probably benign	0.00
PIT4581001:Zfp595	UTSW	13	67317885	missense	probably benign	0.00
R0071:Zfp595	UTSW	13	67316853	missense	possibly damaging	0.55
R0111:Zfp595	UTSW	13	67320920	missense	possibly damaging	0.90
R0319:Zfp595	UTSW	13	67316513	missense	possibly damaging	0.92
R0491:Zfp595	UTSW	13	67317305	missense	probably damaging	0.99
R1162:Zfp595	UTSW	13	67317195	missense	probably damaging	1.00
R1559:Zfp595	UTSW	13	67317063	missense	possibly damaging	0.93
R3118:Zfp595	UTSW	13	67320899	missense	probably benign	0.00
R3901:Zfp595	UTSW	13	67317315	missense	probably benign	0.13
R4866:Zfp595	UTSW	13	67317696	missense	probably damaging	1.00
R4993:Zfp595	UTSW	13	67316401	missense	probably damaging	0.99
R5987:Zfp595	UTSW	13	67317624	missense	probably damaging	1.00
R6684:Zfp595	UTSW	13	67320277	missense	probably damaging	1.00
R7099:Zfp595	UTSW	13	67317647	missense	probably damaging	1.00
R7593:Zfp595	UTSW	13	67316759	missense	probably benign	0.00
R7657:Zfp595	UTSW	13	67317753	missense	probably damaging	1.00
R7828:Zfp595	UTSW	13	67317705	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTCACACTGGTATGGTTTCT -3'
(R):5'- CAAGTGTGAAGTATGTGGTAAGG -3'

Sequencing Primer
(F):5'- GCCACATACTTCACACTTGTAGGG -3'
(R):5'- GGTAAGGCCTTCCATTATCTGTCAAG -3'

Posted On

2015-11-11