Mutagenetix > Incidental Mutation

Incidental Mutation 'R6612:Zfp462'

523650

Institutional Source

Beutler Lab

Gene Symbol

Zfp462

Ensembl Gene

ENSMUSG00000060206

Gene Name

zinc finger protein 462

Synonyms

Zfpip, 9430078C22Rik, Gt4-2

MMRRC Submission

044735-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.831) question?

Stock #

R6612 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54945048-55083563 bp(+) (GRCm38)

Type of Mutation

splice site (4010 bp from exon)

DNA Base Change (assembly)

A to T at 55012324 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122775 (fasta)

Gene Model

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

AlphaFold

B1AWL2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030131
AA Change: E282V

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030131
Gene: ENSMUSG00000060206
AA Change: E282V

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

possibly damaging
Transcript: ENSMUST00000079605
AA Change: E282V

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000078555
Gene: ENSMUSG00000060206
AA Change: E282V

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

possibly damaging
Transcript: ENSMUST00000098070
AA Change: E1430V

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: E1430V

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 null
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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

95% (59/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,692,007	D320E	possibly damaging	Het
4930523C07Rik	A	C	1: 160,075,234	N25H	probably damaging	Het
Akr1c14	A	T	13: 4,065,331	S87C	probably benign	Het
Arhgef37	T	C	18: 61,494,881	T664A	probably benign	Het
Arsi	A	G	18: 60,912,456	T73A	probably benign	Het
Cacnb2	A	T	2: 14,975,149	T274S	probably benign	Het
Cd244	A	G	1: 171,574,104	T133A	probably benign	Het
Ciz1	T	A	2: 32,377,311	S720T	possibly damaging	Het
Cxcr6	T	A	9: 123,810,720	I262N	probably damaging	Het
Cyp2a4	T	A	7: 26,308,647	F160I	probably benign	Het
Esrra	T	C	19: 6,911,852	T390A	probably benign	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Gm17079	C	A	14: 51,694,375	Q91H	probably damaging	Het
Gm17079	T	A	14: 51,694,376	Q91L	possibly damaging	Het
Got1	A	G	19: 43,504,803	S256P	probably damaging	Het
Gria4	C	T	9: 4,472,206	V428I	possibly damaging	Het
Grin2b	A	G	6: 135,740,998	Y699H	probably damaging	Het
Hipk2	T	C	6: 38,818,873	I154V	probably benign	Het
Hkdc1	T	C	10: 62,395,441	E628G	possibly damaging	Het
Hmcn1	C	G	1: 150,595,118		probably null	Het
Hspbap1	T	G	16: 35,801,591	L102W	probably damaging	Het
Iqcb1	G	A	16: 36,871,661		probably benign	Het
Itga7	A	G	10: 128,948,993	Y763C	possibly damaging	Het
Itgb4	A	T	11: 115,984,071	D418V	probably benign	Het
Jakmip2	T	C	18: 43,557,367	D631G	probably damaging	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Kcnu1	A	G	8: 25,918,316	I52V	probably benign	Het
Kdm5a	T	C	6: 120,430,228	I1468T	probably damaging	Het
Kmt2d	A	G	15: 98,845,858		probably benign	Het
Mab21l3	A	G	3: 101,818,645	V345A	possibly damaging	Het
March10	A	T	11: 105,397,078	S133T	probably damaging	Het
Mccc1	T	C	3: 35,993,930	S115G	probably benign	Het
Mchr1	G	A	15: 81,237,870	V274M	probably damaging	Het
Mrgpra3	T	A	7: 47,590,035	I48F	probably benign	Het
Myo9a	T	A	9: 59,827,196	F687Y	probably damaging	Het
Nfrkb	T	A	9: 31,397,006	L216*	probably null	Het
Nrxn3	A	T	12: 89,813,332		probably benign	Het
Olfr746	A	T	14: 50,653,633	Y132F	probably damaging	Het
Olig2	T	A	16: 91,226,881	M161K	probably damaging	Het
Pcdh15	T	A	10: 74,185,378	N141K	probably damaging	Het
Pcdha4	T	C	18: 36,954,978	V738A	probably benign	Het
Pdgfra	T	C	5: 75,167,842	S212P	probably benign	Het
Plk3	G	A	4: 117,132,737	Q194*	probably null	Het
Ppp1r36	T	C	12: 76,437,604	I216T	possibly damaging	Het
Ptprz1	T	A	6: 23,052,082	N2303K	probably damaging	Het
Rab25	G	A	3: 88,543,403	T117M	probably damaging	Het
Slc25a47	T	C	12: 108,855,978	V231A	probably benign	Het
Slx4	G	A	16: 3,985,276	H1225Y	probably damaging	Het
Snx13	C	T	12: 35,106,759	A470V	probably benign	Het
Spa17	A	G	9: 37,605,794	F101S	probably benign	Het
Ssh1	C	T	5: 113,958,730	A217T	probably benign	Het
Synm	G	C	7: 67,733,516	T1466S	probably damaging	Het
Tbc1d19	A	G	5: 53,809,845	E29G	possibly damaging	Het
Teddm2	T	A	1: 153,850,445	T175S	probably benign	Het
Tet2	T	A	3: 133,487,335	H446L	possibly damaging	Het
Tmem110	T	A	14: 30,871,564		probably null	Het
Tpm3-rs7	G	T	14: 113,314,836	R54L	probably benign	Het
Ttc5	T	A	14: 50,785,469		probably null	Het
Tyk2	G	T	9: 21,108,016	Q1014K	probably benign	Het
Ush2a	T	C	1: 188,911,397	S4319P	possibly damaging	Het
Zbtb10	C	A	3: 9,252,065	H312Q	possibly damaging	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
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'- TTGAAGCCGTCTCCATCTGG -3'
(R):5'- CACCTGGGTTGATGTCAATATCC -3'

Sequencing Primer
(F):5'- GTCTCCATCTGGGACATCAC -3'
(R):5'- TGTCAATATCCTGGGCAAAATCAGC -3'

Posted On

2018-06-22