Mutagenetix > Incidental Mutations

Incidental Mutation 'R2148:Zfp462'

233992

Institutional Source

Beutler Lab

Gene Symbol

Zfp462

Ensembl Gene

ENSMUSG00000060206

Gene Name

zinc finger protein 462

Synonyms

Zfpip, 9430078C22Rik, Gt4-2

MMRRC Submission

040151-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R2148 (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 55013670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1879 (S1879T)

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: S731T

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

SMART Domains

Protein: ENSMUSP00000030131
Gene: ENSMUSG00000060206
AA Change: S731T

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: S731T

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

SMART Domains

Protein: ENSMUSP00000078555
Gene: ENSMUSG00000060206
AA Change: S731T

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: S1879T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: S1879T

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	T	A	1: 134,390,513	M341K	probably damaging	Het
Abca12	C	A	1: 71,263,488	V2191L	probably benign	Het
Abca13	A	G	11: 9,615,764	Y4796C	probably damaging	Het
Actn2	A	T	13: 12,300,949	M228K	probably damaging	Het
Agbl1	T	G	7: 76,414,717		probably null	Het
Ahi1	T	G	10: 20,970,976	V435G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgap6	A	G	X: 168,796,500	T94A	probably benign	Het
Atg4c	C	A	4: 99,221,226	N143K	possibly damaging	Het
Bcor	G	A	X: 12,057,623	A578V	possibly damaging	Het
Bop1	A	G	15: 76,455,287	V286A	probably damaging	Het
C1qtnf12	A	G	4: 155,966,465	N297S	probably benign	Het
Cacna1a	A	T	8: 84,629,675	Q1887L	possibly damaging	Het
Cadps2	G	T	6: 23,838,999		probably benign	Het
Chl1	T	C	6: 103,715,401		probably null	Het
Cnot2	A	G	10: 116,506,280	I173T	probably benign	Het
Cntnap5b	T	A	1: 100,383,474	I564N	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,741,236		probably null	Het
Cyp2j11	G	A	4: 96,316,358	T317I	probably damaging	Het
Dennd3	A	T	15: 73,555,060	H762L	probably benign	Het
Dgkd	T	G	1: 87,881,921	N110K	probably damaging	Het
Dhx8	A	T	11: 101,738,377	R198*	probably null	Het
Dnah8	A	T	17: 30,737,258	I2071F	probably damaging	Het
Dsc3	C	T	18: 19,965,638	R828Q	probably damaging	Het
Fbxl4	T	C	4: 22,427,333	F525L	possibly damaging	Het
Glb1	T	C	9: 114,450,648	Y375H	probably damaging	Het
Gpatch1	A	G	7: 35,299,276	V343A	probably benign	Het
Gpr139	A	G	7: 119,144,969	V131A	probably benign	Het
Hamp	T	C	7: 30,942,712	T34A	possibly damaging	Het
Homer2	T	G	7: 81,624,295	D51A	possibly damaging	Het
Hspa1l	C	T	17: 34,977,390	A135V	probably damaging	Het
Igsf10	A	G	3: 59,336,577	M112T	possibly damaging	Het
Ikbkb	A	T	8: 22,682,745	L153Q	probably damaging	Het
Kif19a	A	T	11: 114,780,768	I158F	probably damaging	Het
L1cam	A	T	X: 73,861,141	F536Y	probably damaging	Het
Lamb3	T	C	1: 193,327,904	V275A	probably benign	Het
Lhx1	A	T	11: 84,519,821	S226T	probably benign	Het
Llcfc1	G	A	6: 41,685,221	G53D	possibly damaging	Het
Loxl4	A	G	19: 42,604,192		probably null	Het
Magee1	A	T	X: 105,122,958	D783V	probably damaging	Het
Mak	T	C	13: 41,042,037	K400R	probably benign	Het
Mgat4c	T	C	10: 102,388,929	F335L	probably benign	Het
Mospd2	A	G	X: 164,956,477		probably null	Het
Mtor	T	C	4: 148,456,012	F245L	possibly damaging	Het
Mycbp2	G	A	14: 103,155,922	H3068Y	probably damaging	Het
Myo5a	T	A	9: 75,180,147	L1095H	probably damaging	Het
Nlrp1a	T	A	11: 71,122,907	K506*	probably null	Het
Olfr73	C	A	2: 88,034,599	C180F	probably damaging	Het
Parvb	A	G	15: 84,232,168	K33E	possibly damaging	Het
Pet2	T	C	X: 89,406,277	D82G	possibly damaging	Het
Phkb	A	G	8: 86,017,486	D588G	probably damaging	Het
Pkd1l2	A	T	8: 117,056,325	I752N	probably damaging	Het
Pkhd1	C	A	1: 20,414,220		probably null	Het
Plod3	C	T	5: 136,987,773	R30*	probably null	Het
Ppfia4	T	C	1: 134,312,634	I591V	probably benign	Het
Prickle2	A	G	6: 92,425,671	L112P	probably damaging	Het
Ptgs2	G	T	1: 150,105,714	A583S	probably benign	Het
Pycr2	T	C	1: 180,906,848	V231A	probably damaging	Het
Ralgapa2	T	C	2: 146,431,887	D540G	probably benign	Het
Rasal1	T	A	5: 120,662,031	I150N	probably damaging	Het
Rimkla	T	A	4: 119,474,582	M140L	possibly damaging	Het
Sacs	T	C	14: 61,173,378	L34P	probably damaging	Het
Sema3d	A	G	5: 12,484,959	Y106C	probably damaging	Het
Serpinb8	T	A	1: 107,605,927	D237E	probably benign	Het
Slc19a2	T	C	1: 164,262,088	W158R	probably damaging	Het
Sorbs1	A	T	19: 40,376,824	F172I	possibly damaging	Het
Spaca7	A	T	8: 12,586,447	D91V	probably damaging	Het
Tead3	A	G	17: 28,333,664	F187L	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Tmem131	C	A	1: 36,812,609	V938L	probably benign	Het
Tmem132c	T	A	5: 127,462,962	W351R	probably damaging	Het
Tmem178b	A	T	6: 40,207,501	Q111L	probably damaging	Het
Trap1	T	C	16: 4,060,760	D236G	probably damaging	Het
Trim45	T	A	3: 100,932,044	L754*	probably null	Het
Tubgcp5	A	G	7: 55,799,511	E152G	probably damaging	Het
Uaca	A	T	9: 60,869,679	L447F	probably damaging	Het
Vps51	A	G	19: 6,068,134	V777A	probably benign	Het
Wdr11	A	G	7: 129,629,083		probably null	Het
Zfr2	T	G	10: 81,242,116	V259G	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GTCTACGCAGATGAACACGAG -3'
(R):5'- GCAACGAAGTACATGTGGGC -3'

Sequencing Primer
(F):5'- AGCAGCTTTGAGAGGGCC -3'
(R):5'- ACCAGTGATGAGAGGCCTC -3'

Posted On

2014-10-01