Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Zfp420'

558052

Institutional Source

Beutler Lab

Gene Symbol

Zfp420

Ensembl Gene

ENSMUSG00000058402

Gene Name

zinc finger protein 420

Synonyms

B230312I18Rik

MMRRC Submission

045263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29559404-29576717 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29574791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 337 (Y337C)

Ref Sequence

ENSEMBL: ENSMUSP00000056077 (fasta)

Gene Model

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

AlphaFold

Q7TMN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000057652
AA Change: Y337C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056077
Gene: ENSMUSG00000058402
AA Change: Y337C

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: Y337C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074417
Gene: ENSMUSG00000058402
AA Change: Y337C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abcb10	A	T	8: 124,693,350 (GRCm39)	L318Q		Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Arid3b	A	T	9: 57,712,818 (GRCm39)	D232E	probably benign	Het
Asic5	G	A	3: 81,919,282 (GRCm39)	C342Y	probably damaging	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Brd3	G	A	2: 27,344,411 (GRCm39)	R440C	possibly damaging	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Eml6	T	A	11: 29,788,529 (GRCm39)	I519F	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Lvrn	A	C	18: 47,014,389 (GRCm39)	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,513,946 (GRCm39)	V241D	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
Pwp1	G	T	10: 85,720,401 (GRCm39)	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc1a3	G	T	15: 8,675,386 (GRCm39)	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGTGGCTCACAGCTCTCG -3'
(R):5'- TGTGAACTCTGGGTAAAGGCCAT -3'

Sequencing Primer
(F):5'- GAAGGCTTTTATTCGAGGCTCACTAC -3'
(R):5'- GGCATTCTTTACACTCATACGG -3'

Posted On

2019-06-26