Mutagenetix > Incidental Mutation

Incidental Mutation 'R9476:Zfp462'

715758

Institutional Source

Beutler Lab

Gene Symbol

Zfp462

Ensembl Gene

ENSMUSG00000060206

Gene Name

zinc finger protein 462

Synonyms

Zfpip, 9430078C22Rik, Gt4-2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.615) question?

Stock #

R9476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54945048-55083563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55080735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 2450 (M2450I)

Ref Sequence

ENSEMBL: ENSMUSP00000095677 (fasta)

Gene Model

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

AlphaFold

B1AWL2

Predicted Effect

probably benign
Transcript: ENSMUST00000030131
AA Change: M1362I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030131
Gene: ENSMUSG00000060206
AA Change: M1362I

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
AA Change: M1363I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078555
Gene: ENSMUSG00000060206
AA Change: M1363I

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: M2450I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: M2450I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	G	4: 42,760,998	W6G	unknown	Het
Aatk	A	T	11: 120,010,268	C1101S	probably benign	Het
Abcb4	A	T	5: 8,927,790	D456V	probably damaging	Het
Abcc8	T	C	7: 46,169,846	E186G	possibly damaging	Het
Adam18	T	C	8: 24,625,791	N629S	probably benign	Het
Angpt2	T	G	8: 18,714,127	N133T	probably benign	Het
Ankrd13c	T	A	3: 157,991,759	S334T	probably benign	Het
Ankrd13d	A	T	19: 4,270,261	S151T	unknown	Het
Ap3d1	G	A	10: 80,709,821	P1025S	probably benign	Het
Bhlhe41	G	A	6: 145,863,222	A288V	possibly damaging	Het
Cacna1b	T	C	2: 24,650,046	E1467G	probably damaging	Het
Cacna1h	T	A	17: 25,392,550	T425S	probably damaging	Het
Cdk13	A	C	13: 17,728,162	C934W	probably damaging	Het
Ces1b	T	A	8: 93,073,262	N162I	probably damaging	Het
Clec9a	T	A	6: 129,421,060	I187K	possibly damaging	Het
Cpsf3	A	G	12: 21,300,079	I266M	probably damaging	Het
Cr2	G	T	1: 195,158,108	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,334,511	G448W	probably damaging	Het
Csmd1	T	A	8: 15,931,215		probably null	Het
Cul9	G	A	17: 46,510,907	R1881W	probably damaging	Het
Cyth1	C	T	11: 118,185,380		probably null	Het
Dnhd1	A	T	7: 105,703,682	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,323,727	M476V	probably benign	Het
Dnmt3a	A	G	12: 3,907,707	H896R	probably damaging	Het
Dock1	T	G	7: 134,990,550	I938S	probably benign	Het
Dock6	G	A	9: 21,813,525	L1515F	probably damaging	Het
Dusp16	T	C	6: 134,718,263	H535R	probably benign	Het
Fancd2os	T	A	6: 113,598,033	Y4F	probably damaging	Het
Fat4	A	T	3: 38,983,737	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,852,988	H240P	probably benign	Het
Frmd4a	A	G	2: 4,603,513	T731A	probably benign	Het
Gm44501	T	A	17: 40,578,929	H111Q	possibly damaging	Het
Gm8765	A	G	13: 50,702,113	T596A	possibly damaging	Het
Gsdmc	T	C	15: 63,778,702	M277V	probably benign	Het
Hira	A	G	16: 18,954,039	D867G	probably damaging	Het
Hmcn1	A	G	1: 150,586,376	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,788,787	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,990,812	E102K	possibly damaging	Het
Inmt	G	T	6: 55,171,005	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,244,509	M360L	probably benign	Het
Itih3	A	G	14: 30,909,459	S827P	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcnk12	C	A	17: 87,746,694	R180L	probably benign	Het
Kndc1	G	A	7: 139,930,118	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,608,126	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,398,450	I426V	possibly damaging	Het
Mrpl21	T	G	19: 3,287,704	V137G	probably damaging	Het
Nrbp2	T	C	15: 76,089,777	N218S	probably damaging	Het
Nrip1	T	C	16: 76,292,932	N579S	probably benign	Het
Nsf	T	C	11: 103,873,162	N365S	probably damaging	Het
Olfr774	A	G	10: 129,238,787	I213V	probably damaging	Het
Olfr846	A	T	9: 19,361,087	D89E	probably benign	Het
Osbpl3	C	T	6: 50,336,214		probably null	Het
Oscar	T	A	7: 3,611,844	H43L	probably benign	Het
Pam	C	T	1: 97,898,340		probably null	Het
Parn	A	T	16: 13,541,078	M600K	probably benign	Het
Pcdha11	C	A	18: 37,006,479	T387N	probably benign	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Prune2	T	A	19: 17,119,342	Y737N	possibly damaging	Het
Ptch1	G	A	13: 63,533,634	P613L	probably benign	Het
Ptprt	A	C	2: 161,555,461	C1129G	probably damaging	Het
Rara	C	T	11: 98,970,157	S157L	probably benign	Het
Rest	T	A	5: 77,268,251	M104K	probably damaging	Het
Rfc1	A	G	5: 65,279,799	S513P	probably damaging	Het
Rnf40	T	A	7: 127,602,636	I1000N	probably damaging	Het
Scube2	C	T	7: 109,831,762	G410E	probably damaging	Het
Sh3gl2	A	G	4: 85,385,852	E264G	probably benign	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Smc4	T	G	3: 69,007,329	S92A	probably damaging	Het
Spata31d1b	A	G	13: 59,715,653	D205G	probably benign	Het
Spef2	T	C	15: 9,713,117	R390G	probably damaging	Het
Speg	T	C	1: 75,401,124	F842S	probably damaging	Het
Stk17b	G	T	1: 53,757,739	H290N	probably damaging	Het
Stpg3	A	T	2: 25,213,504	V191D	probably benign	Het
Supt6	C	T	11: 78,229,464	R350H	probably damaging	Het
Tet3	T	C	6: 83,403,953	E411G	possibly damaging	Het
Tet3	T	A	6: 83,404,826		probably null	Het
Tns3	A	G	11: 8,445,702	I1234T	probably damaging	Het
Trim34b	A	G	7: 104,331,296	E197G	probably damaging	Het
Vcan	G	T	13: 89,703,412	T1143K	possibly damaging	Het
Vmn2r61	T	A	7: 42,300,169	V671E	probably damaging	Het
Wdtc1	A	G	4: 133,322,218	V29A	probably damaging	Het
Zfp869	A	T	8: 69,707,199	C241*	probably null	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
R2566:Zfp462	UTSW	4	55008522	missense	probably benign	0.00
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
R9510:Zfp462	UTSW	4	55080735	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCACTTTCAGGATCAGAGAGG -3'
(R):5'- TCATCACGGTTCAAGTAAGGTTTG -3'

Sequencing Primer
(F):5'- CTTAGTAGGGACGCTAGCCTAG -3'
(R):5'- CACGGTTCAAGTAAGGTTTGATAAG -3'

Posted On

2022-06-15