Mutagenetix > Incidental Mutation

Incidental Mutation 'R8480:Zfp473'

657476

Institutional Source

Beutler Lab

Gene Symbol

Zfp473

Ensembl Gene

ENSMUSG00000048012

Gene Name

zinc finger protein 473

Synonyms

D030014N22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R8480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44731480-44751050 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44732899 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 670 (P670Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113774 (fasta)

Gene Model

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

AlphaFold

Q8BI67

Predicted Effect

probably damaging
Transcript: ENSMUST00000060270
AA Change: P670Q

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

SMART Domains

Protein: ENSMUSP00000051069
Gene: ENSMUSG00000048012
AA Change: P670Q

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 damaging
Transcript: ENSMUST00000118162
AA Change: P669Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113316
Gene: ENSMUSG00000048012
AA Change: P669Q

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 damaging
Transcript: ENSMUST00000120074
AA Change: P670Q

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

SMART Domains

Protein: ENSMUSP00000113774
Gene: ENSMUSG00000048012
AA Change: P670Q

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 damaging
Transcript: ENSMUST00000120798
AA Change: P669Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113789
Gene: ENSMUSG00000048012
AA Change: P669Q

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (53/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
Acvr1b	G	A	15: 101,210,839	V499M	possibly damaging	Het
Adam5	G	A	8: 24,804,459	Q375*	probably null	Het
Adgrf1	G	A	17: 43,295,164	E60K	probably benign	Het
Alb	T	C	5: 90,462,771	V70A	probably damaging	Het
Aph1b	T	A	9: 66,788,427		probably benign	Het
Aste1	G	A	9: 105,396,990	R143Q	possibly damaging	Het
Aste1	A	T	9: 105,397,796	T351S	probably damaging	Het
Bace2	T	A	16: 97,413,470	L286Q	probably damaging	Het
Bach1	G	A	16: 87,719,275	G235R	probably damaging	Het
Brwd1	A	T	16: 96,047,430	H516Q	probably damaging	Het
Cc2d2a	C	A	5: 43,685,144		probably null	Het
Cdh22	T	A	2: 165,146,726	E236D	probably benign	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Col11a1	A	G	3: 114,181,394	D1234G	probably benign	Het
Cpt2	A	G	4: 107,907,760	I269T	probably damaging	Het
Dcaf7	T	A	11: 106,054,793	S323T	probably benign	Het
Ddias	G	T	7: 92,859,400	Q436K	probably benign	Het
Dlec1	G	A	9: 119,143,267		probably null	Het
Dock5	T	A	14: 67,836,410	I294F	probably benign	Het
Fat2	A	T	11: 55,282,968	D2306E	possibly damaging	Het
Gm4787	T	A	12: 81,377,506	D626V	probably damaging	Het
Gm6563	A	G	19: 23,675,926	T27A	probably benign	Het
Hadhb	T	C	5: 30,168,570		probably null	Het
Hsph1	A	T	5: 149,627,564	W406R	probably null	Het
Ighv1-66	C	T	12: 115,593,382	G27R	possibly damaging	Het
Impad1	C	T	4: 4,769,376	M246I	probably benign	Het
Krt26	T	C	11: 99,337,600	E102G	probably damaging	Het
Krt34	T	A	11: 100,040,145		probably null	Het
Krt36	T	C	11: 100,102,809	D401G	possibly damaging	Het
Loxhd1	G	A	18: 77,431,131	G326S	probably damaging	Het
Lrrc8b	A	G	5: 105,485,936	N758S	probably damaging	Het
Mkl2	A	T	16: 13,384,192		probably null	Het
Muc4	C	T	16: 32,752,993	T957I	probably benign	Het
Naip5	T	C	13: 100,222,235	Y831C	probably damaging	Het
Nfatc1	A	T	18: 80,635,644	V829E	probably benign	Het
Nmnat1	G	A	4: 149,473,370	L72F	possibly damaging	Het
Olfr1316	A	T	2: 112,129,985	D275E	possibly damaging	Het
Pcdh7	T	A	5: 58,129,065	V1161E	probably damaging	Het
Raver1	A	G	9: 21,090,280	Y86H	probably benign	Het
Recql4	G	T	15: 76,704,505	H1035Q	probably benign	Het
Sgsm1	A	T	5: 113,263,418	M814K	probably benign	Het
Sh3d19	T	G	3: 86,084,877	W71G	probably benign	Het
Sidt1	T	C	16: 44,245,166	Y759C	probably damaging	Het
Spg11	G	T	2: 122,113,079	D197E	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Ssc5d	A	T	7: 4,936,329	D588V	probably damaging	Het
Supt20	C	A	3: 54,707,116	T181K	probably damaging	Het
Szt2	A	T	4: 118,386,818	S1363R	probably benign	Het
Tbcel	G	A	9: 42,463,873		probably null	Het
Ube2e3	T	C	2: 78,918,814	L169P	probably damaging	Het
Wrn	A	G	8: 33,288,768	F595S	probably benign	Het
Zw10	C	T	9: 49,074,999	A660V	probably benign	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
R5429:Zfp473	UTSW	7	44732848	missense	possibly damaging	0.69
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
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'- GGCATGATCGCTGATGAAATG -3'
(R):5'- AGAAAGTTGTGGGTCAGAACTC -3'

Sequencing Primer
(F):5'- TGAAGGCTCTGTCACATTCG -3'
(R):5'- TGGGTCAGAACTCACAGCAC -3'

Posted On

2021-01-18