Mutagenetix > Incidental Mutation

Incidental Mutation 'R4586:Zfp473'

344109

Institutional Source

Beutler Lab

Gene Symbol

Zfp473

Ensembl Gene

ENSMUSG00000048012

Gene Name

zinc finger protein 473

Synonyms

D030014N22Rik

MMRRC Submission

041807-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R4586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44380904-44398041 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 44382376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 651 (Y651*)

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 null
Transcript: ENSMUST00000060270
AA Change: Y652*

SMART Domains

Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: Y652*

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

probably null
Transcript: ENSMUST00000118162
AA Change: Y651*

SMART Domains

Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: Y651*

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 null
Transcript: ENSMUST00000120074
AA Change: Y652*

SMART Domains

Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: Y652*

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

probably null
Transcript: ENSMUST00000120798
AA Change: Y651*

SMART Domains

Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: Y651*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (96/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,026,151 (GRCm39)	S1269P	probably benign	Het
Aqr	T	C	2: 113,943,058 (GRCm39)	T1172A	probably benign	Het
Art2a	A	T	7: 101,203,956 (GRCm39)	L194*	probably null	Het
Atrn	T	C	2: 130,823,962 (GRCm39)	F967S	probably damaging	Het
Btnl1	A	G	17: 34,601,436 (GRCm39)	D323G	probably damaging	Het
Cadps	C	A	14: 12,505,808 (GRCm38)	C754F	probably damaging	Het
Catspere2	A	G	1: 177,950,351 (GRCm39)	D734G	possibly damaging	Het
Ccdc7b	A	G	8: 129,837,401 (GRCm39)	T131A	probably benign	Het
Cfap298	A	T	16: 90,724,314 (GRCm39)	V136D	probably damaging	Het
Cic	A	T	7: 24,972,203 (GRCm39)	I645L	probably benign	Het
Clca3a1	C	A	3: 144,722,619 (GRCm39)	C251F	probably damaging	Het
Cldn16	A	T	16: 26,296,308 (GRCm39)	T95S	probably benign	Het
Cntnap4	C	T	8: 113,537,342 (GRCm39)	H738Y	probably benign	Het
Col8a2	A	T	4: 126,204,812 (GRCm39)		probably benign	Het
Corin	A	T	5: 72,487,042 (GRCm39)	V706D	probably damaging	Het
Cuzd1	G	A	7: 130,916,529 (GRCm39)	P310L	probably damaging	Het
Cyp4a12a	T	C	4: 115,184,509 (GRCm39)	F295L	probably benign	Het
Cyp4a12b	T	G	4: 115,289,703 (GRCm39)	M190R	probably damaging	Het
Dagla	A	G	19: 10,248,373 (GRCm39)	Y96H	probably damaging	Het
Dapp1	T	C	3: 137,644,932 (GRCm39)	Q148R	probably benign	Het
Dcaf17	T	A	2: 70,918,924 (GRCm39)	S499R	probably benign	Het
Ddx27	T	A	2: 166,861,904 (GRCm39)	D135E	probably benign	Het
Defb3	A	T	8: 19,345,172 (GRCm39)	I43F	possibly damaging	Het
Dnajc10	T	G	2: 80,178,122 (GRCm39)	F710V	probably damaging	Het
Dnhd1	T	C	7: 105,327,256 (GRCm39)	L735P	probably damaging	Het
Dnmt1	G	A	9: 20,837,989 (GRCm39)	P242S	probably benign	Het
Dync1h1	G	A	12: 110,615,917 (GRCm39)	D3022N	probably benign	Het
Ep400	G	A	5: 110,901,725 (GRCm39)	T464I	probably damaging	Het
Epc1	T	C	18: 6,449,138 (GRCm39)	N453S	possibly damaging	Het
Eral1	A	T	11: 77,969,130 (GRCm39)	N123K	probably damaging	Het
Ercc5	G	A	1: 44,198,017 (GRCm39)	V145I	probably benign	Het
Evc	A	G	5: 37,481,057 (GRCm39)	S263P	probably damaging	Het
Fancc	A	T	13: 63,495,378 (GRCm39)	M182K	probably benign	Het
Fbxl3	G	T	14: 103,320,526 (GRCm39)	A355E	probably damaging	Het
Fig4	A	C	10: 41,064,628 (GRCm39)	S872A	probably damaging	Het
Gm14393	C	A	2: 174,904,497 (GRCm39)		probably benign	Het
Gm27013	A	T	6: 130,498,003 (GRCm39)		noncoding transcript	Het
Gprc5a	T	A	6: 135,060,450 (GRCm39)	M313K	probably benign	Het
H2ac15	T	C	13: 21,937,882 (GRCm39)	N39S	possibly damaging	Het
H2-T3	T	C	17: 36,500,236 (GRCm39)		probably null	Het
Hap1	G	A	11: 100,245,550 (GRCm39)	T138M	probably benign	Het
Hook3	T	G	8: 26,522,039 (GRCm39)	K679T	probably damaging	Het
Ints2	G	T	11: 86,140,101 (GRCm39)	R244S	probably damaging	Het
Itgb4	T	C	11: 115,884,151 (GRCm39)	V945A	probably damaging	Het
Itih2	C	T	2: 10,115,211 (GRCm39)	S387N	probably benign	Het
Jmjd7	T	A	2: 119,862,649 (GRCm39)	M306K	probably benign	Het
Klra2	T	A	6: 131,207,120 (GRCm39)	D163V	probably benign	Het
Kmo	T	A	1: 175,478,138 (GRCm39)	M208K	probably damaging	Het
Kmo	G	T	1: 175,478,139 (GRCm39)	M208I	possibly damaging	Het
Masp2	A	G	4: 148,698,358 (GRCm39)	T480A	probably damaging	Het
Mogs	G	T	6: 83,095,619 (GRCm39)	R812L	possibly damaging	Het
Mrpl43	A	G	19: 44,994,328 (GRCm39)	I97T	possibly damaging	Het
Myoz1	A	G	14: 20,700,663 (GRCm39)	W185R	probably damaging	Het
Ncam2	T	A	16: 81,262,457 (GRCm39)	H303Q	probably benign	Het
Ntaq1	A	T	15: 58,011,740 (GRCm39)	I34F	probably damaging	Het
Nufip2	T	C	11: 77,632,554 (GRCm39)	V690A	unknown	Het
Obox1	A	T	7: 15,290,152 (GRCm39)	N165I	possibly damaging	Het
Or1j1	C	T	2: 36,702,537 (GRCm39)	C189Y	probably damaging	Het
Or4b1d	T	A	2: 89,968,558 (GRCm39)	E308D	probably benign	Het
Or4c113	T	G	2: 88,885,498 (GRCm39)	I91L	possibly damaging	Het
Or6c35	A	G	10: 129,169,142 (GRCm39)	T131A	probably benign	Het
Pex1	A	G	5: 3,683,885 (GRCm39)	Y1127C	probably damaging	Het
Pno1	T	C	11: 17,161,438 (GRCm39)	K24E	probably benign	Het
Qdpr	T	A	5: 45,596,669 (GRCm39)	N165I	possibly damaging	Het
Robo2	A	G	16: 73,758,761 (GRCm39)	V674A	probably damaging	Het
Runx1t1	A	T	4: 13,889,864 (GRCm39)	T598S	unknown	Het
Samd11	A	G	4: 156,333,889 (GRCm39)	L174P	probably damaging	Het
Scn2a	T	A	2: 65,573,395 (GRCm39)		probably null	Het
Slc4a1	G	T	11: 102,252,245 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,569,474 (GRCm39)		probably benign	Het
Sox2	A	G	3: 34,705,193 (GRCm39)	N210S	probably benign	Het
Spag6	T	C	2: 18,736,958 (GRCm39)		probably null	Het
Speer4b	A	T	5: 27,703,036 (GRCm39)	L154Q	probably null	Het
Stt3a	T	A	9: 36,653,089 (GRCm39)	Q531L	probably damaging	Het
Tcl1	A	C	12: 105,183,767 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,849,600 (GRCm39)	M1488K	possibly damaging	Het
Ttn	T	C	2: 76,798,747 (GRCm39)	H509R	probably benign	Het
Ulk3	C	T	9: 57,501,593 (GRCm39)	L425F	possibly damaging	Het
Vmn1r238	T	A	18: 3,123,294 (GRCm39)	K40M	probably damaging	Het
Vopp1	G	A	6: 57,731,533 (GRCm39)	P153S	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zfp14	G	T	7: 29,738,341 (GRCm39)	Q215K	probably damaging	Het
Zfp735	G	T	11: 73,580,550 (GRCm39)	E16D	possibly damaging	Het
Zfp846	G	T	9: 20,504,809 (GRCm39)	C223F	probably damaging	Het

Other mutations in Zfp473

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01153:Zfp473	APN	7	44,383,992 (GRCm39)	missense	probably damaging	1.00
IGL01443:Zfp473	APN	7	44,388,987 (GRCm39)	missense	probably damaging	0.99
IGL01459:Zfp473	APN	7	44,388,987 (GRCm39)	missense	probably damaging	0.99
IGL01905:Zfp473	APN	7	44,383,151 (GRCm39)	missense	probably benign	0.00
IGL02027:Zfp473	APN	7	44,387,462 (GRCm39)	splice site	probably benign
IGL02314:Zfp473	APN	7	44,383,353 (GRCm39)	missense	probably benign	0.00
IGL02445:Zfp473	APN	7	44,383,107 (GRCm39)	missense	probably damaging	1.00
IGL03033:Zfp473	APN	7	44,382,522 (GRCm39)	missense	probably benign	0.05
R0037:Zfp473	UTSW	7	44,383,324 (GRCm39)	missense	probably damaging	0.96
R0054:Zfp473	UTSW	7	44,383,899 (GRCm39)	missense	probably damaging	0.99
R0054:Zfp473	UTSW	7	44,383,899 (GRCm39)	missense	probably damaging	0.99
R0190:Zfp473	UTSW	7	44,382,612 (GRCm39)	missense	probably damaging	1.00
R1178:Zfp473	UTSW	7	44,384,018 (GRCm39)	missense	probably benign	0.00
R1387:Zfp473	UTSW	7	44,382,365 (GRCm39)	missense	probably benign	0.00
R2141:Zfp473	UTSW	7	44,382,501 (GRCm39)	missense	possibly damaging	0.57
R2142:Zfp473	UTSW	7	44,382,501 (GRCm39)	missense	possibly damaging	0.57
R4194:Zfp473	UTSW	7	44,381,676 (GRCm39)	missense	probably benign	0.08
R4453:Zfp473	UTSW	7	44,382,678 (GRCm39)	missense	probably damaging	0.99
R4585:Zfp473	UTSW	7	44,382,376 (GRCm39)	nonsense	probably null
R4945:Zfp473	UTSW	7	44,383,988 (GRCm39)	missense	probably benign	0.00
R5072:Zfp473	UTSW	7	44,381,943 (GRCm39)	missense	probably damaging	0.98
R5429:Zfp473	UTSW	7	44,382,272 (GRCm39)	missense	possibly damaging	0.69
R5464:Zfp473	UTSW	7	44,382,062 (GRCm39)	missense	probably damaging	1.00
R5551:Zfp473	UTSW	7	44,383,575 (GRCm39)	missense	probably benign	0.03
R5618:Zfp473	UTSW	7	44,391,156 (GRCm39)	missense	probably benign	0.08
R5985:Zfp473	UTSW	7	44,382,752 (GRCm39)	missense	probably damaging	1.00
R6288:Zfp473	UTSW	7	44,382,958 (GRCm39)	missense	probably damaging	1.00
R6701:Zfp473	UTSW	7	44,382,218 (GRCm39)	missense	possibly damaging	0.58
R7069:Zfp473	UTSW	7	44,381,798 (GRCm39)	missense	probably damaging	1.00
R7284:Zfp473	UTSW	7	44,382,627 (GRCm39)	missense	not run
R7361:Zfp473	UTSW	7	44,382,563 (GRCm39)	missense	probably damaging	1.00
R7495:Zfp473	UTSW	7	44,387,368 (GRCm39)	missense	probably benign	0.04
R7631:Zfp473	UTSW	7	44,383,128 (GRCm39)	missense	possibly damaging	0.62
R7940:Zfp473	UTSW	7	44,384,000 (GRCm39)	missense	probably damaging	1.00
R7957:Zfp473	UTSW	7	44,381,916 (GRCm39)	missense	probably damaging	1.00
R8480:Zfp473	UTSW	7	44,382,323 (GRCm39)	missense	probably damaging	1.00
R9464:Zfp473	UTSW	7	44,383,766 (GRCm39)	missense	probably benign	0.00
R9569:Zfp473	UTSW	7	44,388,971 (GRCm39)	missense	probably damaging	1.00
X0027:Zfp473	UTSW	7	44,382,842 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp473	UTSW	7	44,381,732 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTGAAAGGTGGGCACGC -3'
(R):5'- TCATTTGCAGGTCAACTCTGAATTG -3'

Sequencing Primer
(F):5'- ACGCTGTTTGAAGGCCCTG -3'
(R):5'- GTCAACTCTGAATTGCCACCTGAG -3'

Posted On

2015-09-24