Mutagenetix > Incidental Mutation

Incidental Mutation 'R5429:Zfp473'

427067

Institutional Source

Beutler Lab

Gene Symbol

Zfp473

Ensembl Gene

ENSMUSG00000048012

Gene Name

zinc finger protein 473

Synonyms

D030014N22Rik

MMRRC Submission

042995-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44731480-44751050 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44732848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 686 (E686V)

Ref Sequence

ENSEMBL: ENSMUSP00000113789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060270] [ENSMUST00000118162] [ENSMUST00000120074] [ENSMUST00000120798] [ENSMUST00000126366] [ENSMUST00000140599] [ENSMUST00000149011]

AlphaFold

Q8BI67

Predicted Effect

probably benign
Transcript: ENSMUST00000060270
AA Change: E687V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: E687V

Domain	Start	End	E-Value	Type
KRAB	23	84	8.77e-3	SMART
ZnF_C2H2	209	231	1.18e-2	SMART
ZnF_C2H2	265	287	8.47e-4	SMART
ZnF_C2H2	377	399	2.4e-3	SMART
ZnF_C2H2	404	426	8.31e0	SMART
ZnF_C2H2	432	454	1.64e-1	SMART
ZnF_C2H2	460	482	1.98e-4	SMART
ZnF_C2H2	488	510	3.44e-4	SMART
ZnF_C2H2	516	538	2.57e-3	SMART
ZnF_C2H2	544	566	3.29e-1	SMART
ZnF_C2H2	572	594	2.29e0	SMART
ZnF_C2H2	697	719	1.47e1	SMART
ZnF_C2H2	725	747	1.04e-3	SMART
ZnF_C2H2	753	775	3.39e-3	SMART
ZnF_C2H2	781	803	2.24e-3	SMART
ZnF_C2H2	809	831	5.99e-4	SMART
ZnF_C2H2	837	859	1.36e-2	SMART
ZnF_C2H2	865	887	2.57e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118162
AA Change: E686V

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: E686V

Domain	Start	End	E-Value	Type
KRAB	23	83	7.75e-3	SMART
ZnF_C2H2	208	230	1.18e-2	SMART
ZnF_C2H2	264	286	8.47e-4	SMART
ZnF_C2H2	376	398	2.4e-3	SMART
ZnF_C2H2	403	425	8.31e0	SMART
ZnF_C2H2	431	453	1.64e-1	SMART
ZnF_C2H2	459	481	1.98e-4	SMART
ZnF_C2H2	487	509	3.44e-4	SMART
ZnF_C2H2	515	537	2.57e-3	SMART
ZnF_C2H2	543	565	3.29e-1	SMART
ZnF_C2H2	571	593	2.29e0	SMART
ZnF_C2H2	696	718	1.47e1	SMART
ZnF_C2H2	724	746	1.04e-3	SMART
ZnF_C2H2	752	774	3.39e-3	SMART
ZnF_C2H2	780	802	2.24e-3	SMART
ZnF_C2H2	808	830	5.99e-4	SMART
ZnF_C2H2	836	858	1.36e-2	SMART
ZnF_C2H2	864	886	2.57e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120074
AA Change: E687V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: E687V

Domain	Start	End	E-Value	Type
KRAB	23	84	8.77e-3	SMART
ZnF_C2H2	209	231	1.18e-2	SMART
ZnF_C2H2	265	287	8.47e-4	SMART
ZnF_C2H2	377	399	2.4e-3	SMART
ZnF_C2H2	404	426	8.31e0	SMART
ZnF_C2H2	432	454	1.64e-1	SMART
ZnF_C2H2	460	482	1.98e-4	SMART
ZnF_C2H2	488	510	3.44e-4	SMART
ZnF_C2H2	516	538	2.57e-3	SMART
ZnF_C2H2	544	566	3.29e-1	SMART
ZnF_C2H2	572	594	2.29e0	SMART
ZnF_C2H2	697	719	1.47e1	SMART
ZnF_C2H2	725	747	1.04e-3	SMART
ZnF_C2H2	753	775	3.39e-3	SMART
ZnF_C2H2	781	803	2.24e-3	SMART
ZnF_C2H2	809	831	5.99e-4	SMART
ZnF_C2H2	837	859	1.36e-2	SMART
ZnF_C2H2	865	887	2.57e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120798
AA Change: E686V

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: E686V

Domain	Start	End	E-Value	Type
KRAB	23	83	7.75e-3	SMART
ZnF_C2H2	208	230	1.18e-2	SMART
ZnF_C2H2	264	286	8.47e-4	SMART
ZnF_C2H2	376	398	2.4e-3	SMART
ZnF_C2H2	403	425	8.31e0	SMART
ZnF_C2H2	431	453	1.64e-1	SMART
ZnF_C2H2	459	481	1.98e-4	SMART
ZnF_C2H2	487	509	3.44e-4	SMART
ZnF_C2H2	515	537	2.57e-3	SMART
ZnF_C2H2	543	565	3.29e-1	SMART
ZnF_C2H2	571	593	2.29e0	SMART
ZnF_C2H2	696	718	1.47e1	SMART
ZnF_C2H2	724	746	1.04e-3	SMART
ZnF_C2H2	752	774	3.39e-3	SMART
ZnF_C2H2	780	802	2.24e-3	SMART
ZnF_C2H2	808	830	5.99e-4	SMART
ZnF_C2H2	836	858	1.36e-2	SMART
ZnF_C2H2	864	886	2.57e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126366

SMART Domains

Protein: ENSMUSP00000127101
Gene: ENSMUSG00000048012

Domain	Start	End	E-Value	Type
KRAB	23	84	8.77e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140599

SMART Domains

Protein: ENSMUSP00000127738
Gene: ENSMUSG00000048012

Domain	Start	End	E-Value	Type
KRAB	23	84	8.77e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149011

SMART Domains

Protein: ENSMUSP00000130689
Gene: ENSMUSG00000048012

Domain	Start	End	E-Value	Type
KRAB	23	84	8.77e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3'-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	G	A	13: 66,431,828	P199S	probably benign	Het
Akap13	T	G	7: 75,602,904	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Auts2	G	A	5: 131,472,335	T289M	probably damaging	Het
Btaf1	G	A	19: 36,994,857	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,376,043	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,846,459	V154I	probably damaging	Het
Csde1	A	G	3: 103,052,841	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,482,054	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Dock6	T	C	9: 21,832,881	D677G	probably damaging	Het
Filip1l	A	T	16: 57,570,255	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ghr	G	A	15: 3,388,675	Q37*	probably null	Het
Gm10770	C	T	2: 150,179,423	R58H	probably benign	Het
Gm12789	T	C	4: 101,989,961	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,275,013	N234K	probably benign	Het
Itih3	A	G	14: 30,923,521	V10A	probably benign	Het
Kat14	T	A	2: 144,393,323	D234E	probably benign	Het
Kif13a	A	G	13: 46,772,769		probably null	Het
Kif2b	A	G	11: 91,577,229	V76A	probably benign	Het
Mboat1	A	G	13: 30,219,667	T150A	probably benign	Het
Mfsd1	T	A	3: 67,599,960	L398H	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343	C705R	probably damaging	Het
Olfr318	T	A	11: 58,720,524	N175Y	probably damaging	Het
Olfr60	A	G	7: 140,345,273	F239L	possibly damaging	Het
Pcdh10	T	C	3: 45,384,200	S931P	probably benign	Het
Pdpk1	T	C	17: 24,091,560	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,023,756	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,453,763	D452V	probably damaging	Het
Rims2	A	T	15: 39,345,355	T185S	probably damaging	Het
Rpusd4	T	C	9: 35,272,602	V209A	probably benign	Het
Safb	T	C	17: 56,588,822	V20A	probably benign	Het
Scaf8	C	A	17: 3,197,110	P903T	probably benign	Het
Slc30a7	A	G	3: 116,006,925	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,373,263		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tbc1d32	T	C	10: 56,027,993	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,882,314	T303N	probably damaging	Het
Tmc1	G	T	19: 20,789,622	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,934,856	I255T	probably benign	Het
Trim7	G	A	11: 48,849,955	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,074	Q385*	probably null	Het
Ttc39b	A	G	4: 83,243,953	I330T	possibly damaging	Het
Vil1	C	T	1: 74,432,331	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077	V1201A	probably damaging	Het

Other mutations in Zfp473

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Zfp473	APN	7	44734568	missense	probably damaging	1.00
IGL01443:Zfp473	APN	7	44739563	missense	probably damaging	0.99
IGL01459:Zfp473	APN	7	44739563	missense	probably damaging	0.99
IGL01905:Zfp473	APN	7	44733727	missense	probably benign	0.00
IGL02027:Zfp473	APN	7	44738038	splice site	probably benign
IGL02314:Zfp473	APN	7	44733929	missense	probably benign	0.00
IGL02445:Zfp473	APN	7	44733683	missense	probably damaging	1.00
IGL03033:Zfp473	APN	7	44733098	missense	probably benign	0.05
R0037:Zfp473	UTSW	7	44733900	missense	probably damaging	0.96
R0054:Zfp473	UTSW	7	44734475	missense	probably damaging	0.99
R0054:Zfp473	UTSW	7	44734475	missense	probably damaging	0.99
R0190:Zfp473	UTSW	7	44733188	missense	probably damaging	1.00
R1178:Zfp473	UTSW	7	44734594	missense	probably benign	0.00
R1387:Zfp473	UTSW	7	44732941	missense	probably benign	0.00
R2141:Zfp473	UTSW	7	44733077	missense	possibly damaging	0.57
R2142:Zfp473	UTSW	7	44733077	missense	possibly damaging	0.57
R4194:Zfp473	UTSW	7	44732252	missense	probably benign	0.08
R4453:Zfp473	UTSW	7	44733254	missense	probably damaging	0.99
R4585:Zfp473	UTSW	7	44732952	nonsense	probably null
R4586:Zfp473	UTSW	7	44732952	nonsense	probably null
R4945:Zfp473	UTSW	7	44734564	missense	probably benign	0.00
R5072:Zfp473	UTSW	7	44732519	missense	probably damaging	0.98
R5464:Zfp473	UTSW	7	44732638	missense	probably damaging	1.00
R5551:Zfp473	UTSW	7	44734151	missense	probably benign	0.03
R5618:Zfp473	UTSW	7	44741732	missense	probably benign	0.08
R5985:Zfp473	UTSW	7	44733328	missense	probably damaging	1.00
R6288:Zfp473	UTSW	7	44733534	missense	probably damaging	1.00
R6701:Zfp473	UTSW	7	44732794	missense	possibly damaging	0.58
R7069:Zfp473	UTSW	7	44732374	missense	probably damaging	1.00
R7284:Zfp473	UTSW	7	44733203	missense	not run
R7361:Zfp473	UTSW	7	44733139	missense	probably damaging	1.00
R7495:Zfp473	UTSW	7	44737944	missense	probably benign	0.04
R7631:Zfp473	UTSW	7	44733704	missense	possibly damaging	0.62
R7940:Zfp473	UTSW	7	44734576	missense	probably damaging	1.00
R7957:Zfp473	UTSW	7	44732492	missense	probably damaging	1.00
R8480:Zfp473	UTSW	7	44732899	missense	probably damaging	1.00
R9464:Zfp473	UTSW	7	44734342	missense	probably benign	0.00
R9569:Zfp473	UTSW	7	44739547	missense	probably damaging	1.00
X0027:Zfp473	UTSW	7	44733418	missense	probably damaging	1.00
Z1177:Zfp473	UTSW	7	44732308	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAGGCATGATCGCTGATG -3'
(R):5'- CTAGGGCAGCATGAGAAGATTC -3'

Sequencing Primer
(F):5'- CAAAGTGCTTCTCTGCAGTG -3'
(R):5'- GATTCATGCCCAGGTGACATC -3'

Posted On

2016-09-01