Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03267:Zfp420'

415121

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp420

Ensembl Gene

ENSMUSG00000058402

Gene Name

zinc finger protein 420

Synonyms

B230312I18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03267

Quality Score

Status

Chromosome

Chromosomal Location

29559404-29576717 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29574908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 376 (R376H)

Ref Sequence

ENSEMBL: ENSMUSP00000074417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057652] [ENSMUST00000074876]

AlphaFold

Q7TMN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000057652
AA Change: R376H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000056077
Gene: ENSMUSG00000058402
AA Change: R376H

Domain	Start	End	E-Value	Type
ZnF_C2H2	29	51	4.87e-4	SMART
ZnF_C2H2	57	79	2.24e-3	SMART
ZnF_C2H2	85	107	6.88e-4	SMART
ZnF_C2H2	113	135	5.99e-4	SMART
ZnF_C2H2	141	163	1.04e-3	SMART
ZnF_C2H2	169	191	4.17e-3	SMART
ZnF_C2H2	197	219	2.53e-2	SMART
ZnF_C2H2	225	247	4.47e-3	SMART
ZnF_C2H2	253	275	3.95e-4	SMART
ZnF_C2H2	281	303	2.27e-4	SMART
ZnF_C2H2	309	331	3.44e-4	SMART
ZnF_C2H2	337	359	9.73e-4	SMART
ZnF_C2H2	365	387	3.95e-4	SMART
ZnF_C2H2	393	415	2.2e-2	SMART
ZnF_C2H2	421	443	2.95e-3	SMART
ZnF_C2H2	449	471	2.61e-4	SMART
ZnF_C2H2	477	499	2.24e-3	SMART
ZnF_C2H2	505	527	2.57e-3	SMART
ZnF_C2H2	533	555	1.22e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000074876
AA Change: R376H

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074417
Gene: ENSMUSG00000058402
AA Change: R376H

Domain	Start	End	E-Value	Type
ZnF_C2H2	29	51	4.87e-4	SMART
ZnF_C2H2	57	79	2.24e-3	SMART
ZnF_C2H2	85	107	6.88e-4	SMART
ZnF_C2H2	113	135	5.99e-4	SMART
ZnF_C2H2	141	163	1.04e-3	SMART
ZnF_C2H2	169	191	4.17e-3	SMART
ZnF_C2H2	197	219	2.53e-2	SMART
ZnF_C2H2	225	247	4.47e-3	SMART
ZnF_C2H2	253	275	3.95e-4	SMART
ZnF_C2H2	281	303	2.27e-4	SMART
ZnF_C2H2	309	331	3.44e-4	SMART
ZnF_C2H2	337	359	9.73e-4	SMART
ZnF_C2H2	365	387	3.95e-4	SMART
ZnF_C2H2	393	415	2.2e-2	SMART
ZnF_C2H2	421	443	2.95e-3	SMART
ZnF_C2H2	449	471	2.61e-4	SMART
ZnF_C2H2	477	499	2.24e-3	SMART
ZnF_C2H2	505	527	2.57e-3	SMART
ZnF_C2H2	533	555	1.22e-4	SMART
Pfam:zf-C2H2_6	561	578	1.6e0	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145952

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a KRAB-type zinc finger protein that negatively-regulates p53-mediated apoptosis. Under stress conditions, the encoded protein is phosphorylated by ATM and dissociates from p53, which activates p53 and initiates apoptosis. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	C	T	5: 121,775,412 (GRCm39)	R430Q	probably benign	Het
Arfgef3	T	A	10: 18,467,630 (GRCm39)	I1857F	probably damaging	Het
Baat	T	A	4: 49,490,050 (GRCm39)	M345L	probably benign	Het
Babam1	T	G	8: 71,855,708 (GRCm39)		probably null	Het
Bbs7	A	G	3: 36,627,654 (GRCm39)	F711S	probably damaging	Het
Btrc	A	G	19: 45,507,262 (GRCm39)	E458G	probably damaging	Het
Car6	T	C	4: 150,280,503 (GRCm39)		probably benign	Het
Celsr3	T	C	9: 108,713,724 (GRCm39)		probably benign	Het
Csn2	A	G	5: 87,845,930 (GRCm39)	V3A	possibly damaging	Het
Ddc	T	C	11: 11,826,303 (GRCm39)	Y86C	probably damaging	Het
Dennd1b	A	T	1: 138,990,599 (GRCm39)	R188*	probably null	Het
Dnah1	C	A	14: 31,008,545 (GRCm39)	A2046S	probably benign	Het
Duxf4	T	C	10: 58,071,609 (GRCm39)	T202A	probably damaging	Het
Eif2b4	A	T	5: 31,350,003 (GRCm39)	S20T	possibly damaging	Het
Etl4	T	A	2: 20,789,993 (GRCm39)	C916*	probably null	Het
Fam78a	T	C	2: 31,959,679 (GRCm39)	I144V	probably benign	Het
Fcho1	A	G	8: 72,164,943 (GRCm39)		probably benign	Het
Il9r	T	A	11: 32,141,778 (GRCm39)	H320L	possibly damaging	Het
Kntc1	C	T	5: 123,896,543 (GRCm39)	T135M	probably damaging	Het
Lca5l	T	A	16: 95,960,983 (GRCm39)	Q498L	probably benign	Het
Map4k3	T	C	17: 80,971,457 (GRCm39)	H70R	probably damaging	Het
Mrps26	A	G	2: 130,406,856 (GRCm39)		probably null	Het
Or1j20	G	T	2: 36,760,513 (GRCm39)	A312S	probably benign	Het
Or4k5	A	G	14: 50,386,304 (GRCm39)	V9A	probably damaging	Het
Or8j3b	A	T	2: 86,204,978 (GRCm39)	Y259*	probably null	Het
Pik3cg	C	A	12: 32,255,307 (GRCm39)	G227C	possibly damaging	Het
Ptprn2	C	T	12: 116,839,964 (GRCm39)	Q496*	probably null	Het
Rif1	T	G	2: 51,967,000 (GRCm39)	N96K	possibly damaging	Het
Rreb1	A	C	13: 38,116,169 (GRCm39)	D1176A	probably benign	Het
Slc22a30	A	G	19: 8,315,322 (GRCm39)	I436T	probably benign	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Spata31e5	G	A	1: 28,816,202 (GRCm39)	T610I	probably damaging	Het
Stab1	A	G	14: 30,864,686 (GRCm39)	C1950R	probably damaging	Het
Tns2	T	C	15: 102,013,813 (GRCm39)		probably null	Het
Ttf2	G	A	3: 100,852,120 (GRCm39)	R1009*	probably null	Het
Wfdc16	A	G	2: 164,480,462 (GRCm39)	V11A	possibly damaging	Het
Zfp367	A	G	13: 64,292,097 (GRCm39)		probably benign	Het

Other mutations in Zfp420

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Zfp420	APN	7	29,574,518 (GRCm39)	missense	probably damaging	1.00
IGL00963:Zfp420	APN	7	29,574,518 (GRCm39)	missense	probably damaging	1.00
IGL02666:Zfp420	APN	7	29,573,795 (GRCm39)	missense	probably benign
PIT4585001:Zfp420	UTSW	7	29,575,430 (GRCm39)	missense	probably benign
R0033:Zfp420	UTSW	7	29,573,987 (GRCm39)	missense	probably benign	0.00
R0282:Zfp420	UTSW	7	29,575,105 (GRCm39)	missense	probably benign	0.14
R0659:Zfp420	UTSW	7	29,574,964 (GRCm39)	missense	probably damaging	1.00
R1888:Zfp420	UTSW	7	29,573,933 (GRCm39)	missense	probably damaging	1.00
R1888:Zfp420	UTSW	7	29,573,933 (GRCm39)	missense	probably damaging	1.00
R1894:Zfp420	UTSW	7	29,573,933 (GRCm39)	missense	probably damaging	1.00
R4041:Zfp420	UTSW	7	29,575,427 (GRCm39)	missense	probably benign
R4834:Zfp420	UTSW	7	29,573,759 (GRCm39)	start gained	probably benign
R6979:Zfp420	UTSW	7	29,575,446 (GRCm39)	missense	probably damaging	1.00
R7168:Zfp420	UTSW	7	29,574,791 (GRCm39)	missense	probably damaging	1.00
R8386:Zfp420	UTSW	7	29,575,043 (GRCm39)	missense	probably benign	0.34
R9480:Zfp420	UTSW	7	29,575,497 (GRCm39)	missense	probably benign
R9574:Zfp420	UTSW	7	29,575,480 (GRCm39)	nonsense	probably null
Z1176:Zfp420	UTSW	7	29,574,911 (GRCm39)	missense	possibly damaging	0.51
Z1186:Zfp420	UTSW	7	29,574,949 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02