Mutagenetix > Incidental Mutation

Incidental Mutation 'R8544:Zfp595'

659551

Institutional Source

Beutler Lab

Gene Symbol

Zfp595

Ensembl Gene

ENSMUSG00000057842

Gene Name

zinc finger protein 595

Synonyms

A230042K10Rik

MMRRC Submission

068509-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8544 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67461062-67480634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67465244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 340 (R340C)

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: R343C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105357
Gene: ENSMUSG00000057842
AA Change: R343C

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: ENSMUST00000168892
AA Change: R343C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126862
Gene: ENSMUSG00000057842
AA Change: R343C

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: R343C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129905
Gene: ENSMUSG00000057842
AA Change: R343C

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: ENSMUST00000171466
AA Change: R340C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127010
Gene: ENSMUSG00000057842
AA Change: R340C

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

97% (74/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	A	15: 37,425,979 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,832,461 (GRCm39)	L1171H	probably damaging	Het
Ace	A	T	11: 105,862,116 (GRCm39)		probably null	Het
Adsl	G	T	15: 80,832,734 (GRCm39)		probably benign	Het
Cabin1	A	G	10: 75,585,890 (GRCm39)	M215T	probably benign	Het
Cabp2	A	T	19: 4,134,892 (GRCm39)	R77S	probably damaging	Het
Cast	A	T	13: 74,882,177 (GRCm39)	H40Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,358 (GRCm39)	Y946N	unknown	Het
Ccdc9b	C	T	2: 118,587,702 (GRCm39)	R544K	unknown	Het
Chst14	A	G	2: 118,758,010 (GRCm39)	Y268C	probably damaging	Het
Dennd1a	T	C	2: 37,872,920 (GRCm39)		probably null	Het
Dnah1	A	G	14: 30,990,861 (GRCm39)	Y3153H	probably damaging	Het
Entpd8	T	C	2: 24,973,856 (GRCm39)	V271A	probably benign	Het
Eppk1	C	T	15: 75,994,319 (GRCm39)	R854Q	probably benign	Het
Fam234b	A	G	6: 135,210,287 (GRCm39)	Y561C	probably damaging	Het
Flg	A	G	3: 93,195,448 (GRCm39)		probably benign	Het
Galnt5	T	A	2: 57,907,160 (GRCm39)	M541K	probably damaging	Het
Gjd3	C	A	11: 98,873,488 (GRCm39)	E119*	probably null	Het
Gm266	T	C	12: 111,451,799 (GRCm39)	T136A	possibly damaging	Het
Gng11	G	A	6: 4,008,045 (GRCm39)	C36Y	possibly damaging	Het
Gse1	G	A	8: 121,280,391 (GRCm39)	V36I	probably damaging	Het
Hycc2	T	C	1: 58,568,981 (GRCm39)	T477A	probably benign	Het
Invs	A	T	4: 48,397,598 (GRCm39)	H335L	probably damaging	Het
Kcnc2	A	T	10: 112,292,101 (GRCm39)	I28F	probably damaging	Het
Klhl40	C	T	9: 121,607,892 (GRCm39)	H351Y	probably damaging	Het
Kremen2	A	G	17: 23,961,201 (GRCm39)	L382P	probably benign	Het
Lenep	A	T	3: 89,309,784 (GRCm39)	C55S	possibly damaging	Het
Lrp12	A	T	15: 39,741,970 (GRCm39)	Y248*	probably null	Het
Man2c1	A	G	9: 57,038,325 (GRCm39)		probably null	Het
Map2k2	T	C	10: 80,955,376 (GRCm39)	M32T	possibly damaging	Het
Mnt	A	G	11: 74,722,218 (GRCm39)	R22G	probably damaging	Het
Mroh1	G	T	15: 76,327,558 (GRCm39)	E1127*	probably null	Het
Mtmr4	A	G	11: 87,502,735 (GRCm39)	R930G	possibly damaging	Het
Nalcn	A	G	14: 123,608,935 (GRCm39)	V644A	probably benign	Het
Ngf	G	T	3: 102,427,991 (GRCm39)	V247F	probably damaging	Het
Ninj2	A	G	6: 120,175,018 (GRCm39)	Y63C	probably damaging	Het
Or4c121	T	C	2: 89,024,312 (GRCm39)	E22G	possibly damaging	Het
Or51g2	A	T	7: 102,622,938 (GRCm39)	I87N	probably damaging	Het
Phf12	A	C	11: 77,918,235 (GRCm39)	I816L	probably damaging	Het
Pkhd1	C	A	1: 20,593,199 (GRCm39)	G1638V	probably damaging	Het
Plce1	T	A	19: 38,512,903 (GRCm39)	S67R	probably benign	Het
Plekhf1	A	G	7: 37,920,768 (GRCm39)	F267L	probably damaging	Het
Poc1b	A	T	10: 98,960,770 (GRCm39)	K60*	probably null	Het
Ppic	G	A	18: 53,544,612 (GRCm39)	T66M	probably damaging	Het
Prep	G	T	10: 45,029,223 (GRCm39)	G541V	probably damaging	Het
Rasal3	C	T	17: 32,611,093 (GRCm39)	V947I	probably benign	Het
Rbl1	T	C	2: 157,035,124 (GRCm39)	R319G	probably damaging	Het
Rbm34	A	G	8: 127,696,821 (GRCm39)	S94P	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Sacm1l	T	C	9: 123,406,123 (GRCm39)		probably null	Het
Scaf8	T	C	17: 3,213,295 (GRCm39)		probably benign	Het
Scrn1	T	A	6: 54,499,841 (GRCm39)	T215S	probably benign	Het
Sfrp4	A	G	13: 19,816,336 (GRCm39)		probably null	Het
Slc37a3	T	C	6: 39,321,297 (GRCm39)	I406V	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sptbn1	C	A	11: 30,169,750 (GRCm39)		probably benign	Het
St8sia5	T	C	18: 77,342,114 (GRCm39)	Y275H	probably damaging	Het
Stab1	A	T	14: 30,885,008 (GRCm39)	C137*	probably null	Het
Svep1	A	G	4: 58,206,025 (GRCm39)	S118P	probably benign	Het
Tbx6	A	G	7: 126,380,656 (GRCm39)		probably null	Het
Tril	C	T	6: 53,796,295 (GRCm39)	S309N	possibly damaging	Het
Trmt13	A	G	3: 116,386,094 (GRCm39)		probably null	Het
Trpm1	T	A	7: 63,874,356 (GRCm39)		probably null	Het
Tyr	T	C	7: 87,142,000 (GRCm39)	T110A	probably benign	Het
Upf1	A	C	8: 70,789,702 (GRCm39)	F711C	probably damaging	Het
Usp5	A	T	6: 124,800,480 (GRCm39)	V267D	probably damaging	Het
Virma	C	A	4: 11,516,949 (GRCm39)	D714E	probably benign	Het
Vmn2r115	A	C	17: 23,564,773 (GRCm39)	Q220P	possibly damaging	Het
Vmn2r40	T	C	7: 8,911,191 (GRCm39)	I701V		Het
Vwde	T	A	6: 13,187,652 (GRCm39)	M612L	probably benign	Het
Wwox	A	G	8: 115,215,646 (GRCm39)	T140A	probably benign	Het
Zbtb17	CCCCCACCTCCACAGACCCCA	CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA	4: 141,194,139 (GRCm39)		probably benign	Het
Zbtb9	T	A	17: 27,193,448 (GRCm39)	C284*	probably null	Het
Zdhhc12	C	A	2: 29,983,486 (GRCm39)	A39S	probably benign	Het
Zfp532	T	A	18: 65,758,227 (GRCm39)	I720K	possibly 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
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
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
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'- GCCTTGCCACATATGTCACA -3'
(R):5'- ATGTGGTAAGGCCTTCCATTATC -3'

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

Posted On

2021-01-18