Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Zfp595'

180212

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp595

Ensembl Gene

ENSMUSG00000057842

Gene Name

zinc finger protein 595

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

67312998-67332570 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 67317783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 139 (H139N)

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

possibly damaging
Transcript: ENSMUST00000109735
AA Change: H142N

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: H142N

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

possibly damaging
Transcript: ENSMUST00000168892
AA Change: H142N

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: H142N

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

possibly damaging
Transcript: ENSMUST00000169142
AA Change: H142N

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: H142N

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

possibly damaging
Transcript: ENSMUST00000171466
AA Change: H139N

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: H139N

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,223,986 (GRCm38)		probably benign	Het
Adamts13	A	G	2: 26,996,583 (GRCm38)	E938G	possibly damaging	Het
Aox2	C	T	1: 58,287,743 (GRCm38)	T167I	possibly damaging	Het
Apba3	G	T	10: 81,273,073 (GRCm38)	A557S	probably benign	Het
Atad2b	T	C	12: 5,034,093 (GRCm38)	L1382P	probably damaging	Het
Atrn	C	T	2: 130,935,565 (GRCm38)	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,166,761 (GRCm38)	S88G	probably benign	Het
Baz2b	T	C	2: 59,935,271 (GRCm38)	K887E	probably damaging	Het
Ccdc162	A	C	10: 41,569,887 (GRCm38)	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,317,453 (GRCm38)		probably benign	Het
Chit1	A	G	1: 134,149,410 (GRCm38)	D317G	probably benign	Het
Chrnb1	A	T	11: 69,795,019 (GRCm38)		probably benign	Het
Cobl	G	T	11: 12,254,596 (GRCm38)	T620K	probably benign	Het
Creld1	T	C	6: 113,483,960 (GRCm38)	F20L	probably benign	Het
Csmd2	A	T	4: 128,559,947 (GRCm38)	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,372,629 (GRCm38)	D259G	probably benign	Het
Dbnl	A	G	11: 5,797,142 (GRCm38)	Y224C	probably damaging	Het
Det1	A	T	7: 78,843,823 (GRCm38)	C144*	probably null	Het
Fbxo47	G	T	11: 97,856,160 (GRCm38)	A360D	probably damaging	Het
Frrs1	G	A	3: 116,885,239 (GRCm38)	G237R	probably damaging	Het
Gatsl2	T	C	5: 134,135,602 (GRCm38)	F134S	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm38)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm4788	G	A	1: 139,739,206 (GRCm38)	L444F	probably damaging	Het
Gm5862	A	C	5: 26,022,771 (GRCm38)	W41G	probably benign	Het
Gria2	T	C	3: 80,710,331 (GRCm38)	T372A	probably benign	Het
Hmcn2	A	T	2: 31,398,917 (GRCm38)	Q2246L	probably benign	Het
Ide	T	C	19: 37,272,164 (GRCm38)	M930V	unknown	Het
Kdm5a	T	C	6: 120,394,255 (GRCm38)		probably null	Het
Khnyn	A	G	14: 55,894,969 (GRCm38)	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,244,186 (GRCm38)	F209L	possibly damaging	Het
Med13	C	A	11: 86,308,696 (GRCm38)		probably benign	Het
Myom2	A	G	8: 15,069,685 (GRCm38)	E147G	probably benign	Het
Myrip	T	A	9: 120,388,264 (GRCm38)	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,631,414 (GRCm38)	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,320,830 (GRCm38)	C247*	probably null	Het
Nup54	G	A	5: 92,424,435 (GRCm38)	P252L	probably benign	Het
Olfr610	A	G	7: 103,506,796 (GRCm38)	I50T	possibly damaging	Het
Otoa	C	A	7: 121,105,968 (GRCm38)	N244K	probably damaging	Het
Pbrm1	G	A	14: 31,082,604 (GRCm38)	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,898,427 (GRCm38)	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,270,304 (GRCm38)	L233H	probably damaging	Het
Sec24c	T	A	14: 20,689,689 (GRCm38)	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,404,825 (GRCm38)		probably null	Het
Slitrk1	G	A	14: 108,911,239 (GRCm38)	A680V	probably benign	Het
Smpd1	C	T	7: 105,555,448 (GRCm38)	S178L	probably benign	Het
Spindoc	A	G	19: 7,382,677 (GRCm38)	L42P	probably damaging	Het
Tenm4	A	G	7: 96,895,212 (GRCm38)	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,839,194 (GRCm38)	A18E	probably damaging	Het
Tmem213	A	T	6: 38,109,438 (GRCm38)	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,430,343 (GRCm38)	I102L	probably benign	Het
Trip11	T	G	12: 101,886,884 (GRCm38)	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385 (GRCm38)	R1056*	probably null	Het
Wdr27	T	G	17: 14,917,226 (GRCm38)	K433N	probably damaging	Het
Wls	C	A	3: 159,901,443 (GRCm38)	S189*	probably null	Het
Yeats2	A	G	16: 20,206,167 (GRCm38)	N706D	probably damaging	Het
Zbp1	A	G	2: 173,212,254 (GRCm38)	V158A	probably benign	Het

Other mutations in Zfp595

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Zfp595	APN	13	67,316,685 (GRCm38)	nonsense	probably null
IGL01572:Zfp595	APN	13	67,317,401 (GRCm38)	missense	possibly damaging	0.58
IGL01836:Zfp595	APN	13	67,332,461 (GRCm38)	utr 5 prime	probably benign
IGL02171:Zfp595	APN	13	67,316,655 (GRCm38)	missense	possibly damaging	0.61
IGL02376:Zfp595	APN	13	67,316,450 (GRCm38)	missense	possibly damaging	0.80
IGL02651:Zfp595	APN	13	67,320,953 (GRCm38)	missense	probably benign	0.00
PIT4581001:Zfp595	UTSW	13	67,317,885 (GRCm38)	missense	probably benign	0.00
R0071:Zfp595	UTSW	13	67,316,853 (GRCm38)	missense	possibly damaging	0.55
R0111:Zfp595	UTSW	13	67,320,920 (GRCm38)	missense	possibly damaging	0.90
R0319:Zfp595	UTSW	13	67,316,513 (GRCm38)	missense	possibly damaging	0.92
R0491:Zfp595	UTSW	13	67,317,305 (GRCm38)	missense	probably damaging	0.99
R1162:Zfp595	UTSW	13	67,317,195 (GRCm38)	missense	probably damaging	1.00
R1559:Zfp595	UTSW	13	67,317,063 (GRCm38)	missense	possibly damaging	0.93
R3118:Zfp595	UTSW	13	67,320,899 (GRCm38)	missense	probably benign	0.00
R3901:Zfp595	UTSW	13	67,317,315 (GRCm38)	missense	probably benign	0.13
R4738:Zfp595	UTSW	13	67,317,165 (GRCm38)	missense	probably benign	0.11
R4866:Zfp595	UTSW	13	67,317,696 (GRCm38)	missense	probably damaging	1.00
R4993:Zfp595	UTSW	13	67,316,401 (GRCm38)	missense	probably damaging	0.99
R5987:Zfp595	UTSW	13	67,317,624 (GRCm38)	missense	probably damaging	1.00
R6684:Zfp595	UTSW	13	67,320,277 (GRCm38)	missense	probably damaging	1.00
R7099:Zfp595	UTSW	13	67,317,647 (GRCm38)	missense	probably damaging	1.00
R7593:Zfp595	UTSW	13	67,316,759 (GRCm38)	missense	probably benign	0.00
R7657:Zfp595	UTSW	13	67,317,753 (GRCm38)	missense	probably damaging	1.00
R7828:Zfp595	UTSW	13	67,317,705 (GRCm38)	missense	probably damaging	1.00
R8295:Zfp595	UTSW	13	67,316,700 (GRCm38)	missense	possibly damaging	0.64
R8544:Zfp595	UTSW	13	67,317,180 (GRCm38)	missense	probably damaging	1.00
R9029:Zfp595	UTSW	13	67,320,925 (GRCm38)	missense	probably benign	0.00
R9103:Zfp595	UTSW	13	67,316,612 (GRCm38)	missense	probably damaging	0.99
R9332:Zfp595	UTSW	13	67,317,399 (GRCm38)	missense	probably damaging	0.99
R9432:Zfp595	UTSW	13	67,317,343 (GRCm38)	nonsense	probably null
R9499:Zfp595	UTSW	13	67,317,003 (GRCm38)	missense	probably damaging	1.00
R9551:Zfp595	UTSW	13	67,317,003 (GRCm38)	missense	probably damaging	1.00

Posted On

2014-05-07