Mutagenetix > Incidental Mutation

Incidental Mutation 'R2566:Zfp462'

254449

Institutional Source

Beutler Lab

Gene Symbol

Zfp462

Ensembl Gene

ENSMUSG00000060206

Gene Name

zinc finger protein 462

Synonyms

Zfpip, 9430078C22Rik, Gt4-2

MMRRC Submission

040425-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.776) question?

Stock #

R2566 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54945048-55083563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55008522 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 163 (S163T)

Ref Sequence

ENSEMBL: ENSMUSP00000095677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030131] [ENSMUST00000079605] [ENSMUST00000098070] [ENSMUST00000133895]

AlphaFold

B1AWL2

Predicted Effect

probably benign
Transcript: ENSMUST00000030131

SMART Domains

Protein: ENSMUSP00000030131
Gene: ENSMUSG00000060206

Domain	Start	End	E-Value	Type
ZnF_C2H2	35	58	4.81e0	SMART
ZnF_C2H2	106	129	6.67e-2	SMART
ZnF_C2H2	153	176	3.47e0	SMART
ZnF_C2H2	210	233	7.29e0	SMART
ZnF_C2H2	311	334	2.17e-1	SMART
ZnF_C2H2	356	379	6.57e0	SMART
ZnF_C2H2	418	441	5.34e-1	SMART
low complexity region	450	463	N/A	INTRINSIC
ZnF_C2H2	501	524	8.22e-2	SMART
ZnF_C2H2	538	561	5.34e0	SMART
ZnF_C2H2	608	631	6.4e0	SMART
low complexity region	655	676	N/A	INTRINSIC
ZnF_C2H2	687	711	3.05e1	SMART
ZnF_C2H2	733	755	1.08e-1	SMART
low complexity region	757	771	N/A	INTRINSIC
ZnF_C2H2	809	831	1.51e0	SMART
ZnF_C2H2	892	914	3.11e-2	SMART
ZnF_C2H2	926	948	4.11e-2	SMART
ZnF_C2H2	955	978	4.98e-1	SMART
ZnF_C2H2	984	1007	5.5e-3	SMART
ZnF_C2H2	1092	1115	7.05e-1	SMART
ZnF_C2H2	1121	1144	5.48e0	SMART
ZnF_C2H2	1155	1177	6.13e-1	SMART
ZnF_C2H2	1201	1223	1.26e-2	SMART
ZnF_C2H2	1229	1252	2.02e-1	SMART
low complexity region	1273	1296	N/A	INTRINSIC
ZnF_C2H2	1315	1337	2.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079605

SMART Domains

Protein: ENSMUSP00000078555
Gene: ENSMUSG00000060206

Domain	Start	End	E-Value	Type
ZnF_C2H2	35	58	4.81e0	SMART
ZnF_C2H2	106	129	6.67e-2	SMART
ZnF_C2H2	153	176	3.47e0	SMART
ZnF_C2H2	210	233	7.29e0	SMART
ZnF_C2H2	311	334	2.17e-1	SMART
ZnF_C2H2	356	379	6.57e0	SMART
ZnF_C2H2	418	441	5.34e-1	SMART
low complexity region	450	463	N/A	INTRINSIC
ZnF_C2H2	501	524	8.22e-2	SMART
ZnF_C2H2	538	561	5.34e0	SMART
ZnF_C2H2	608	631	6.4e0	SMART
low complexity region	655	676	N/A	INTRINSIC
ZnF_C2H2	687	711	3.05e1	SMART
ZnF_C2H2	733	755	1.08e-1	SMART
low complexity region	757	771	N/A	INTRINSIC
ZnF_C2H2	809	831	1.51e0	SMART
ZnF_C2H2	893	915	3.11e-2	SMART
ZnF_C2H2	927	949	4.11e-2	SMART
ZnF_C2H2	956	979	4.98e-1	SMART
ZnF_C2H2	985	1008	5.5e-3	SMART
ZnF_C2H2	1093	1116	7.05e-1	SMART
ZnF_C2H2	1122	1145	5.48e0	SMART
ZnF_C2H2	1156	1178	6.13e-1	SMART
ZnF_C2H2	1202	1224	1.26e-2	SMART
ZnF_C2H2	1230	1253	2.02e-1	SMART
low complexity region	1274	1297	N/A	INTRINSIC
ZnF_C2H2	1316	1338	2.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098070
AA Change: S163T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: S163T

Domain	Start	End	E-Value	Type
ZnF_C2H2	4	27	5.81e-2	SMART
low complexity region	81	94	N/A	INTRINSIC
ZnF_C2H2	108	131	1.79e-2	SMART
ZnF_C2H2	162	185	4.65e-1	SMART
low complexity region	194	215	N/A	INTRINSIC
ZnF_C2H2	243	266	4.98e-1	SMART
low complexity region	332	343	N/A	INTRINSIC
ZnF_C2H2	440	463	1.01e-1	SMART
ZnF_C2H2	471	493	2.86e-1	SMART
low complexity region	503	515	N/A	INTRINSIC
low complexity region	536	592	N/A	INTRINSIC
ZnF_C2H2	593	616	2.53e-2	SMART
low complexity region	707	736	N/A	INTRINSIC
ZnF_C2H2	835	858	5.62e0	SMART
ZnF_C2H2	878	900	2.14e0	SMART
ZnF_C2H2	917	940	6.67e-2	SMART
ZnF_C2H2	1023	1046	5.72e-1	SMART
low complexity region	1092	1100	N/A	INTRINSIC
ZnF_C2H2	1107	1130	4.23e0	SMART
ZnF_C2H2	1183	1206	4.81e0	SMART
ZnF_C2H2	1254	1277	6.67e-2	SMART
ZnF_C2H2	1301	1324	3.47e0	SMART
ZnF_C2H2	1358	1381	7.29e0	SMART
ZnF_C2H2	1459	1482	2.17e-1	SMART
ZnF_C2H2	1504	1527	6.57e0	SMART
ZnF_C2H2	1566	1589	5.34e-1	SMART
low complexity region	1598	1611	N/A	INTRINSIC
ZnF_C2H2	1649	1672	8.22e-2	SMART
ZnF_C2H2	1686	1709	5.34e0	SMART
ZnF_C2H2	1756	1779	6.4e0	SMART
low complexity region	1803	1824	N/A	INTRINSIC
ZnF_C2H2	1835	1859	3.05e1	SMART
ZnF_C2H2	1881	1903	1.08e-1	SMART
low complexity region	1905	1919	N/A	INTRINSIC
ZnF_C2H2	1957	1979	1.51e0	SMART
ZnF_C2H2	2014	2036	4.11e-2	SMART
ZnF_C2H2	2043	2066	4.98e-1	SMART
ZnF_C2H2	2072	2095	5.5e-3	SMART
ZnF_C2H2	2180	2203	7.05e-1	SMART
ZnF_C2H2	2209	2232	5.48e0	SMART
ZnF_C2H2	2243	2265	6.13e-1	SMART
ZnF_C2H2	2289	2311	1.26e-2	SMART
ZnF_C2H2	2317	2340	2.02e-1	SMART
low complexity region	2361	2384	N/A	INTRINSIC
ZnF_C2H2	2403	2425	2.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133895

SMART Domains

Protein: ENSMUSP00000122775
Gene: ENSMUSG00000060206

Domain	Start	End	E-Value	Type
ZnF_C2H2	4	27	5.81e-2	SMART
low complexity region	81	93	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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 belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,293,071	K408E	probably damaging	Het
2010315B03Rik	T	A	9: 124,293,153	K380N	probably damaging	Het
9230104M06Rik	C	T	12: 113,000,739		probably benign	Het
Ahi1	T	A	10: 20,970,911	C413*	probably null	Het
Alms1	T	A	6: 85,622,482	M1430K	possibly damaging	Het
Ankrd52	G	T	10: 128,389,351	A894S	probably benign	Het
Arhgap33	C	A	7: 30,527,229	V494L	probably damaging	Het
Atic	G	T	1: 71,568,971	V275F	probably damaging	Het
Atoh1	T	A	6: 64,729,684	V121E	probably damaging	Het
Atp5h	T	A	11: 115,416,038		probably null	Het
Baiap2l2	A	T	15: 79,261,974		probably null	Het
Brca2	A	T	5: 150,541,762	T1664S	probably benign	Het
Cdh15	G	A	8: 122,862,024	R279Q	probably damaging	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,488,230		probably benign	Het
Cep350	A	T	1: 155,959,718		probably null	Het
Ces2g	T	C	8: 104,965,989		probably null	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyp2d34	A	G	15: 82,616,167	F457S	probably damaging	Het
Disp3	T	A	4: 148,241,423	T1293S	probably damaging	Het
Dock10	T	A	1: 80,540,253	I1348F	possibly damaging	Het
Dsp	A	T	13: 38,196,404	H1776L	probably damaging	Het
Efhd1	A	T	1: 87,309,755	Q228L	possibly damaging	Het
Entpd2	T	A	2: 25,399,283	I259N	probably benign	Het
Fam149b	A	T	14: 20,375,510	M138L	probably damaging	Het
Fastkd5	T	C	2: 130,616,365	K102E	probably benign	Het
Fzd7	C	A	1: 59,484,536	T526K	possibly damaging	Het
G6pd2	T	A	5: 61,808,987	I35N	probably damaging	Het
Gars	T	A	6: 55,065,563	M427K	probably damaging	Het
Gimap4	C	T	6: 48,690,865	R57C	probably damaging	Het
Gm11232	C	A	4: 71,757,785	W41L	probably benign	Het
Gm15737	T	A	6: 92,879,720	C43*	probably null	Het
Gm853	A	T	4: 130,209,888	L420Q	probably benign	Het
Gpr180	T	C	14: 118,139,773	V62A	probably benign	Het
H2-M11	C	T	17: 36,548,150	T194I	possibly damaging	Het
Jakmip3	A	T	7: 138,989,468	E27V	possibly damaging	Het
Kcnq3	T	C	15: 66,031,427	T145A	probably damaging	Het
Krt8	A	G	15: 101,998,024	M350T	probably benign	Het
Krtap4-9	T	A	11: 99,785,666		probably benign	Het
Lbr	G	T	1: 181,836,127	D109E	probably damaging	Het
Med23	A	G	10: 24,888,575	H42R	probably damaging	Het
Mgat5	A	T	1: 127,307,004	M77L	probably benign	Het
Mlf1	A	T	3: 67,384,586	N28I	possibly damaging	Het
Mroh3	A	C	1: 136,198,126	L343R	probably damaging	Het
Mrpl37	T	A	4: 107,064,493	I180F	possibly damaging	Het
Mrps27	T	A	13: 99,400,328	C116*	probably null	Het
Muc6	A	G	7: 141,640,384	S1354P	possibly damaging	Het
Myh7	A	T	14: 54,983,242	D1033E	probably damaging	Het
Myo16	A	T	8: 10,594,820	E1717D	probably benign	Het
Myo1g	T	A	11: 6,512,539		probably null	Het
Olfr610	A	G	7: 103,506,160	M262T	probably benign	Het
Olfr815	A	C	10: 129,902,095	L205R	probably damaging	Het
Pan2	T	C	10: 128,313,897	L576P	probably damaging	Het
Parp8	A	G	13: 116,895,687	S278P	possibly damaging	Het
Pdk2	A	G	11: 95,027,202		probably null	Het
Phf1	T	C	17: 26,937,088	S450P	probably damaging	Het
Pkd1l2	T	C	8: 117,019,494	Y1919C	probably damaging	Het
Postn	T	A	3: 54,376,953	S614T	probably damaging	Het
Psmg1	A	T	16: 95,982,195	Y213*	probably null	Het
Rab11b	T	A	17: 33,747,718	T203S	probably benign	Het
Rad54l2	T	A	9: 106,703,626	T899S	possibly damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,246,545		probably benign	Het
Rapgef6	A	G	11: 54,687,711	T1028A	possibly damaging	Het
Rbm6	A	G	9: 107,791,998	S58P	possibly damaging	Het
Rreb1	G	T	13: 37,929,792	A376S	possibly damaging	Het
Rsbn1l	T	A	5: 20,919,769	N345I	probably benign	Het
Sf3b2	A	T	19: 5,275,090	S785T	possibly damaging	Het
Sh2b1	C	T	7: 126,468,926	D519N	probably damaging	Het
Slitrk6	T	C	14: 110,750,272	T668A	probably benign	Het
Stkld1	T	A	2: 26,950,638	I444N	probably damaging	Het
Sucla2	A	T	14: 73,552,804		probably benign	Het
Tmem67	T	A	4: 12,079,918	L190F	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trem2	G	A	17: 48,351,835	W191*	probably null	Het
Ube2d4	A	T	15: 58,846,679		noncoding transcript	Het
Uimc1	G	T	13: 55,075,804	D218E	probably damaging	Het
Wdr62	A	T	7: 30,273,999	V95E	probably damaging	Het
Zfhx4	T	C	3: 5,245,143	V862A	probably damaging	Het
Zfp704	T	C	3: 9,609,493	D76G	unknown	Het

Other mutations in Zfp462

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Zfp462	APN	4	55011483	splice site	probably null
IGL00421:Zfp462	APN	4	55023576	missense	probably benign	0.00
IGL00899:Zfp462	APN	4	55007732	missense	probably damaging	1.00
IGL01549:Zfp462	APN	4	55013181	missense	probably damaging	1.00
IGL01627:Zfp462	APN	4	55008912	missense	possibly damaging	0.93
IGL01715:Zfp462	APN	4	55008586	missense	probably benign	0.20
IGL01862:Zfp462	APN	4	55023441	missense	probably damaging	1.00
IGL01878:Zfp462	APN	4	55010613	missense	probably damaging	1.00
IGL01913:Zfp462	APN	4	55012138	missense	probably benign	0.04
IGL02029:Zfp462	APN	4	55079395	splice site	probably benign
IGL02338:Zfp462	APN	4	55010292	missense	possibly damaging	0.88
IGL02552:Zfp462	APN	4	55010613	missense	probably damaging	1.00
IGL02623:Zfp462	APN	4	55012986	missense	probably damaging	1.00
IGL02750:Zfp462	APN	4	55060236	missense	probably null	1.00
IGL02815:Zfp462	APN	4	55051303	missense	probably damaging	1.00
IGL03204:Zfp462	APN	4	55080785	missense	possibly damaging	0.80
FR4304:Zfp462	UTSW	4	55009757	unclassified	probably benign
FR4304:Zfp462	UTSW	4	55009758	unclassified	probably benign
FR4737:Zfp462	UTSW	4	55009758	unclassified	probably benign
FR4737:Zfp462	UTSW	4	55009760	unclassified	probably benign
FR4976:Zfp462	UTSW	4	55009760	unclassified	probably benign
FR4976:Zfp462	UTSW	4	55009761	unclassified	probably benign
P0035:Zfp462	UTSW	4	55009086	missense	probably benign
R0052:Zfp462	UTSW	4	55011762	missense	probably benign	0.03
R0143:Zfp462	UTSW	4	55023402	splice site	probably benign
R0145:Zfp462	UTSW	4	55010529	missense	probably damaging	1.00
R0315:Zfp462	UTSW	4	55079314	missense	probably damaging	0.99
R0349:Zfp462	UTSW	4	55008768	missense	probably benign
R0359:Zfp462	UTSW	4	55013689	missense	probably damaging	1.00
R0413:Zfp462	UTSW	4	55010534	missense	probably damaging	0.99
R0554:Zfp462	UTSW	4	55013689	missense	probably damaging	1.00
R0616:Zfp462	UTSW	4	55011951	missense	probably damaging	1.00
R0631:Zfp462	UTSW	4	55007563	start codon destroyed	possibly damaging	0.60
R1086:Zfp462	UTSW	4	55013000	missense	probably damaging	1.00
R1499:Zfp462	UTSW	4	55060046	missense	probably damaging	1.00
R1509:Zfp462	UTSW	4	55007667	missense	probably damaging	1.00
R1526:Zfp462	UTSW	4	55009002	missense	probably benign
R1541:Zfp462	UTSW	4	55008928	missense	possibly damaging	0.53
R1691:Zfp462	UTSW	4	55013489	missense	possibly damaging	0.70
R1843:Zfp462	UTSW	4	55010010	missense	possibly damaging	0.88
R2086:Zfp462	UTSW	4	55010830	missense	probably damaging	1.00
R2109:Zfp462	UTSW	4	55008496	missense	probably benign	0.00
R2148:Zfp462	UTSW	4	55013670	missense	probably benign	0.01
R2179:Zfp462	UTSW	4	55009524	missense	possibly damaging	0.73
R2325:Zfp462	UTSW	4	55013712	missense	probably benign
R2352:Zfp462	UTSW	4	55008313	missense	probably null
R3879:Zfp462	UTSW	4	55060095	missense	probably damaging	1.00
R3969:Zfp462	UTSW	4	55012402	missense	probably damaging	1.00
R4273:Zfp462	UTSW	4	55008411	missense	probably benign	0.00
R4413:Zfp462	UTSW	4	55012672	missense	probably damaging	0.99
R4510:Zfp462	UTSW	4	55008934	missense	possibly damaging	0.86
R4511:Zfp462	UTSW	4	55008934	missense	possibly damaging	0.86
R4609:Zfp462	UTSW	4	55011889	missense	probably damaging	1.00
R4632:Zfp462	UTSW	4	55012981	missense	probably damaging	1.00
R4649:Zfp462	UTSW	4	55009349	missense	probably benign
R4682:Zfp462	UTSW	4	55011376	missense	probably damaging	1.00
R4696:Zfp462	UTSW	4	55008612	missense	probably benign
R4744:Zfp462	UTSW	4	55011598	missense	probably damaging	1.00
R4747:Zfp462	UTSW	4	55013476	missense	probably benign	0.00
R4819:Zfp462	UTSW	4	55060044	missense	probably damaging	1.00
R4827:Zfp462	UTSW	4	55012213	missense	probably damaging	1.00
R4854:Zfp462	UTSW	4	55010668	missense	probably damaging	1.00
R4879:Zfp462	UTSW	4	55009444	missense	probably benign	0.02
R4891:Zfp462	UTSW	4	55060055	missense	probably damaging	1.00
R4993:Zfp462	UTSW	4	55051204	missense	possibly damaging	0.62
R5118:Zfp462	UTSW	4	55010667	missense	probably damaging	1.00
R5171:Zfp462	UTSW	4	55016986	splice site	probably null
R5173:Zfp462	UTSW	4	55011115	missense	probably damaging	0.99
R5221:Zfp462	UTSW	4	55016887	missense	possibly damaging	0.86
R5268:Zfp462	UTSW	4	55012299	missense	probably benign
R5314:Zfp462	UTSW	4	55013178	missense	probably damaging	1.00
R5429:Zfp462	UTSW	4	55060077	missense	probably damaging	1.00
R5518:Zfp462	UTSW	4	55009818	missense	probably damaging	0.99
R5525:Zfp462	UTSW	4	55050281	missense	possibly damaging	0.73
R5620:Zfp462	UTSW	4	55013464	missense	probably benign	0.01
R5775:Zfp462	UTSW	4	55010590	missense	probably damaging	0.99
R6126:Zfp462	UTSW	4	55023573	missense	probably benign	0.01
R6280:Zfp462	UTSW	4	55010253	missense	probably benign	0.00
R6325:Zfp462	UTSW	4	55080680	missense	probably benign	0.04
R6542:Zfp462	UTSW	4	55023433	missense	probably damaging	1.00
R6612:Zfp462	UTSW	4	55012324	splice site	probably null
R6663:Zfp462	UTSW	4	55008933	missense	possibly damaging	0.53
R6872:Zfp462	UTSW	4	55012326	missense	probably benign	0.01
R6889:Zfp462	UTSW	4	55007671	missense	probably damaging	1.00
R6896:Zfp462	UTSW	4	55009544	missense	possibly damaging	0.72
R6913:Zfp462	UTSW	4	55007775	missense	probably benign	0.25
R6988:Zfp462	UTSW	4	55080716	missense	probably benign	0.00
R7131:Zfp462	UTSW	4	55009380	missense	probably benign
R7151:Zfp462	UTSW	4	55051271	missense	probably damaging	0.99
R7684:Zfp462	UTSW	4	55008908	missense	probably benign
R7741:Zfp462	UTSW	4	55008637	missense	probably benign	0.00
R7750:Zfp462	UTSW	4	55016958	missense	probably benign	0.06
R7812:Zfp462	UTSW	4	55008509	missense	probably benign	0.00
R7863:Zfp462	UTSW	4	55007747	missense	probably benign
R7898:Zfp462	UTSW	4	55012995	missense	probably damaging	0.98
R7993:Zfp462	UTSW	4	55011907	missense	probably damaging	1.00
R7995:Zfp462	UTSW	4	55011907	missense	probably damaging	1.00
R8023:Zfp462	UTSW	4	55073106	critical splice donor site	probably null
R8394:Zfp462	UTSW	4	55011862	missense	probably damaging	1.00
R8669:Zfp462	UTSW	4	55051313	missense	probably damaging	0.99
R8877:Zfp462	UTSW	4	55011097	missense	probably damaging	0.98
R8980:Zfp462	UTSW	4	55009681	unclassified	probably benign
R9023:Zfp462	UTSW	4	55007563	start codon destroyed	probably null	0.00
R9243:Zfp462	UTSW	4	55009595	nonsense	probably null
R9378:Zfp462	UTSW	4	55011510	missense	probably benign	0.00
R9417:Zfp462	UTSW	4	55016988	missense	probably benign	0.26
R9476:Zfp462	UTSW	4	55080735	missense	probably benign
R9510:Zfp462	UTSW	4	55080735	missense	probably benign
R9610:Zfp462	UTSW	4	55009545	missense	possibly damaging	0.73
R9628:Zfp462	UTSW	4	55009423	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTCAGCATATTACCCCTAATCCC -3'
(R):5'- ATGCTGCGCTCAACAACCTC -3'

Sequencing Primer
(F):5'- GCATATTACCCCTAATCCCAAACC -3'
(R):5'- AACCTCTGCCGGCAGTTC -3'

Posted On

2014-12-04