Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00963:Zfp420'

306600

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 #

IGL00963

Quality Score

Status

Chromosome

Chromosomal Location

29559404-29576717 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29574518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 246 (I246T)

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: I246T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000056077
Gene: ENSMUSG00000058402
AA Change: I246T

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: I246T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000074417
Gene: ENSMUSG00000058402
AA Change: I246T

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI606181	A	C	19: 41,582,228 (GRCm39)		probably benign	Het
Alyref2	C	T	1: 171,331,816 (GRCm39)	Q198*	probably null	Het
Ankrd13a	T	C	5: 114,939,863 (GRCm39)	S497P	probably damaging	Het
Chd5	C	A	4: 152,467,395 (GRCm39)	N1644K	probably damaging	Het
Col13a1	T	C	10: 61,674,476 (GRCm39)		probably benign	Het
Ctnna3	T	A	10: 64,781,728 (GRCm39)	D730E	probably damaging	Het
Dock11	A	G	X: 35,296,035 (GRCm39)	Q1197R	possibly damaging	Het
Drosha	T	A	15: 12,926,083 (GRCm39)	I1224N	probably damaging	Het
Dsc1	T	C	18: 20,245,043 (GRCm39)	K42R	probably null	Het
Engase	A	G	11: 118,373,824 (GRCm39)	D322G	probably damaging	Het
Ephb2	T	C	4: 136,386,262 (GRCm39)	D829G	probably benign	Het
Fgfr2	C	T	7: 129,830,491 (GRCm39)	M47I	probably damaging	Het
Gad1-ps	G	T	10: 99,281,310 (GRCm39)		noncoding transcript	Het
Gatb	A	G	3: 85,526,255 (GRCm39)	S378G	probably benign	Het
Hivep2	G	A	10: 14,005,091 (GRCm39)	S563N	probably damaging	Het
Irs2	G	A	8: 11,055,867 (GRCm39)	A855V	probably benign	Het
Jagn1	T	C	6: 113,424,436 (GRCm39)	S103P	probably damaging	Het
Kdm6a	T	A	X: 18,112,665 (GRCm39)		probably benign	Het
Lmcd1	T	C	6: 112,306,895 (GRCm39)	C356R	probably damaging	Het
Mefv	T	A	16: 3,533,584 (GRCm39)	Y229F	possibly damaging	Het
Myef2	T	C	2: 124,957,395 (GRCm39)	Y120C	probably damaging	Het
Myo9a	T	G	9: 59,807,655 (GRCm39)	I2074S	probably damaging	Het
Nhs	A	G	X: 160,630,045 (GRCm39)	S337P	probably damaging	Het
Nphp4	T	G	4: 152,622,318 (GRCm39)	H566Q	probably benign	Het
Or2d2	A	T	7: 106,728,272 (GRCm39)	C109*	probably null	Het
Or52z13	T	A	7: 103,246,844 (GRCm39)		probably null	Het
Pabpc2	C	A	18: 39,908,390 (GRCm39)	Q552K	possibly damaging	Het
Podn	T	A	4: 107,879,371 (GRCm39)	N104I	probably damaging	Het
Rit1	T	C	3: 88,633,738 (GRCm39)	V94A	probably damaging	Het
Scn7a	A	T	2: 66,534,289 (GRCm39)		probably benign	Het
Septin4	A	T	11: 87,474,199 (GRCm39)	K29M	possibly damaging	Het
Sowahb	T	C	5: 93,191,870 (GRCm39)	Y283C	probably damaging	Het
Srbd1	A	T	17: 86,422,637 (GRCm39)	W460R	probably damaging	Het
Svep1	T	A	4: 58,072,791 (GRCm39)	K2173*	probably null	Het
Tlr6	T	C	5: 65,112,019 (GRCm39)	N296S	possibly damaging	Het
Trpm8	A	G	1: 88,307,549 (GRCm39)	D1073G	possibly damaging	Het
Ttc28	A	T	5: 111,434,255 (GRCm39)	K2399*	probably null	Het
Ttn	A	G	2: 76,717,627 (GRCm39)		probably benign	Het
Uroc1	C	T	6: 90,315,810 (GRCm39)	T189I	probably benign	Het
Usp18	C	T	6: 121,232,341 (GRCm39)	Q122*	probably null	Het
Zfp644	T	C	5: 106,786,503 (GRCm39)		probably null	Het
Zfp871	A	T	17: 32,993,726 (GRCm39)	V483E	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
IGL02666:Zfp420	APN	7	29,573,795 (GRCm39)	missense	probably benign
IGL03267:Zfp420	APN	7	29,574,908 (GRCm39)	missense	probably damaging	0.97
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

2015-04-16