Mutagenetix > Incidental Mutation

Incidental Mutation 'R4993:Zfp595'

385043

Institutional Source

Beutler Lab

Gene Symbol

Zfp595

Ensembl Gene

ENSMUSG00000057842

Gene Name

zinc finger protein 595

Synonyms

A230042K10Rik

MMRRC Submission

042587-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67461062-67480634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67464465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 599 (K599N)

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: K602N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: K602N

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: K602N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: K602N

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: K602N

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: K602N

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: K599N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: K599N

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: 94.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 41,191,052 (GRCm39)	Q126K	probably benign	Het
Abca15	C	A	7: 120,000,941 (GRCm39)	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,906,472 (GRCm39)	D402N	probably damaging	Het
Akap11	A	G	14: 78,750,408 (GRCm39)	F660L	probably damaging	Het
Bcl3	T	C	7: 19,554,102 (GRCm39)	T89A	probably benign	Het
Bub1b	T	C	2: 118,467,251 (GRCm39)	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,352,214 (GRCm39)	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,502,530 (GRCm39)	D202V	probably damaging	Het
Dip2c	T	G	13: 9,625,259 (GRCm39)	Y584*	probably null	Het
Dpf3	A	T	12: 83,378,635 (GRCm39)		probably null	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Emid1	G	T	11: 5,081,512 (GRCm39)	Q212K	probably benign	Het
Esm1	C	T	13: 113,349,933 (GRCm39)	Q118*	probably null	Het
Fahd2a	T	G	2: 127,278,284 (GRCm39)	I308L	probably benign	Het
Fanci	T	C	7: 79,085,126 (GRCm39)	*851Q	probably null	Het
Fastkd1	C	A	2: 69,533,084 (GRCm39)	V428F	probably damaging	Het
Fat2	A	T	11: 55,173,918 (GRCm39)	I2265N	probably damaging	Het
Gale	C	A	4: 135,694,171 (GRCm39)	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,426,403 (GRCm39)	V153E	possibly damaging	Het
Gpc6	A	G	14: 117,861,951 (GRCm39)	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,191,537 (GRCm39)	Y153F	probably damaging	Het
Ints3	T	C	3: 90,322,814 (GRCm39)	T139A	probably benign	Het
Irf2bp2	A	G	8: 127,319,410 (GRCm39)	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640 (GRCm39)	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,219,820 (GRCm39)	H117P	probably damaging	Het
Lpl	A	G	8: 69,348,445 (GRCm39)	K225E	probably benign	Het
Lrba	T	A	3: 86,267,344 (GRCm39)	V1678D	probably damaging	Het
Med1	A	T	11: 98,054,730 (GRCm39)	F398Y	probably damaging	Het
Mfap2	T	C	4: 140,742,889 (GRCm39)	*186Q	probably null	Het
Mfsd3	T	C	15: 76,586,182 (GRCm39)	L105P	probably damaging	Het
Mlxip	T	G	5: 123,533,357 (GRCm39)	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,118,355 (GRCm39)	Y107F	probably damaging	Het
Mtg1	G	T	7: 139,720,196 (GRCm39)	D88Y	probably null	Het
Mutyh	T	A	4: 116,675,132 (GRCm39)	S426R	probably benign	Het
Myo16	C	T	8: 10,526,094 (GRCm39)	T878I	probably damaging	Het
Myo9a	T	A	9: 59,768,755 (GRCm39)	Y912*	probably null	Het
Ncor1	A	C	11: 62,234,167 (GRCm39)	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,202,935 (GRCm39)	I210V	probably benign	Het
Nek9	A	G	12: 85,357,194 (GRCm39)	C657R	probably damaging	Het
Noct	C	T	3: 51,157,442 (GRCm39)	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,334,042 (GRCm39)	M102K	probably benign	Het
Obscn	G	A	11: 59,015,587 (GRCm39)	R1054C	possibly damaging	Het
Or10ag58	T	A	2: 87,265,496 (GRCm39)	F222I	probably benign	Het
Or1j20	C	A	2: 36,760,000 (GRCm39)	Q141K	probably benign	Het
Or2a57	A	G	6: 43,213,390 (GRCm39)	M283V	possibly damaging	Het
Or51ah3	T	A	7: 103,210,524 (GRCm39)	I280N	possibly damaging	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or5p75-ps1	G	A	7: 108,107,450 (GRCm39)	M62I	probably damaging	Het
Otol1	C	A	3: 69,926,211 (GRCm39)	Q129K	probably benign	Het
Otx1	A	T	11: 21,948,532 (GRCm39)		probably null	Het
Pcdhac2	C	A	18: 37,279,304 (GRCm39)	N761K	probably damaging	Het
Pde1c	A	T	6: 56,127,609 (GRCm39)	M452K	probably damaging	Het
Phkg2	T	C	7: 127,173,113 (GRCm39)	Y24H	probably damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prg4	C	T	1: 150,336,432 (GRCm39)	C97Y	probably damaging	Het
Ptdss1	T	C	13: 67,093,352 (GRCm39)	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,289,231 (GRCm39)	K324E	probably damaging	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Riiad1	T	C	3: 94,380,170 (GRCm39)	T42A	probably benign	Het
Rims2	T	C	15: 39,317,841 (GRCm39)	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,190,770 (GRCm39)	S592Y	possibly damaging	Het
Scap	T	C	9: 110,207,458 (GRCm39)	L431P	probably damaging	Het
Siglec1	T	A	2: 130,915,281 (GRCm39)	I1437F	possibly damaging	Het
Skic3	T	A	13: 76,331,055 (GRCm39)	M1495K	probably damaging	Het
Skint1	T	C	4: 111,885,530 (GRCm39)		probably null	Het
Slc44a1	A	G	4: 53,543,644 (GRCm39)	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,639,867 (GRCm39)	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,004,129 (GRCm39)	S394R	probably damaging	Het
Socs1	A	G	16: 10,602,549 (GRCm39)	S63P	probably benign	Het
Spopfm2	C	T	3: 94,083,623 (GRCm39)	G63R	probably damaging	Het
Sun1	T	G	5: 139,211,088 (GRCm39)	S20A	possibly damaging	Het
Tac4	A	T	11: 95,156,068 (GRCm39)	K50*	probably null	Het
Tasor	T	A	14: 27,151,071 (GRCm39)	W16R	possibly damaging	Het
Tcaf2	A	G	6: 42,619,574 (GRCm39)	I151T	probably damaging	Het
Tcf4	T	C	18: 69,814,840 (GRCm39)	V587A	probably damaging	Het
Ttn	T	A	2: 76,571,253 (GRCm39)	K24801*	probably null	Het
Tuba3b	G	T	6: 145,566,999 (GRCm39)	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832 (GRCm39)	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,287,532 (GRCm39)	I212L	probably benign	Het
Umodl1	A	G	17: 31,205,459 (GRCm39)	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,773,878 (GRCm39)	V183D	probably damaging	Het
Ush2a	A	G	1: 188,642,917 (GRCm39)	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,204,653 (GRCm39)	S121N	probably damaging	Het
Vmn1r47	A	G	6: 89,999,740 (GRCm39)	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,701,449 (GRCm39)	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,487,176 (GRCm39)	H573L	probably benign	Het
Xirp1	C	T	9: 119,847,858 (GRCm39)	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204 (GRCm39)	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,415,963 (GRCm39)	H230Y	probably damaging	Het
Zfp819	C	A	7: 43,266,720 (GRCm39)	T401K	probably benign	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
R0491:Zfp595	UTSW	13	67,465,369 (GRCm39)	missense	probably damaging	0.99
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
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

PCR Primer
(F):5'- AGGAGGCTTTTCCACATTCC -3'
(R):5'- TCCATCATCCCTTTCTGAACATAAG -3'

Sequencing Primer
(F):5'- AGGCTTTTCCACATTCCTCACTTTTC -3'
(R):5'- CTGAACATAAGAGAATTCACACTGG -3'

Posted On

2016-05-10