Mutagenetix > Incidental Mutations

Incidental Mutation 'R0145:Zfp462'

22552

Institutional Source

Beutler Lab

Gene Symbol

Zfp462

Ensembl Gene

ENSMUSG00000060206

Gene Name

zinc finger protein 462

Synonyms

Zfpip, 9430078C22Rik, Gt4-2

MMRRC Submission

038430-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.573) question?

Stock #

R0145 (G1) of strain 722

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

54945048-55083563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55010529 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 832 (G832R)

Ref Sequence

ENSEMBL: ENSMUSP00000095677 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000098070
AA Change: G832R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: G832R

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

Meta Mutation Damage Score

0.1200

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 93.7%
20x: 82.1%

Validation Efficiency

96% (109/113)

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
1700017N19Rik	A	G	10: 100,601,921	E64G	probably damaging	Het
1810043G02Rik	T	C	10: 77,983,556	S196P	probably benign	Het
4931408C20Rik	A	G	1: 26,687,332	M32T	probably benign	Het
Actr6	A	T	10: 89,728,178	Y77*	probably null	Het
Aldoart1	A	T	4: 72,851,339	S411T	probably benign	Het
Aqp1	C	T	6: 55,346,687	R234C	probably damaging	Het
Arsb	G	A	13: 93,862,287	G368R	possibly damaging	Het
Asxl3	G	A	18: 22,453,605	A151T	probably damaging	Het
Bcas3	T	C	11: 85,359,610		probably benign	Het
Bmpr2	AACACA	AACA	1: 59,867,580		probably null	Het
Bst1	A	G	5: 43,819,072	Y49C	probably damaging	Het
Btrc	T	A	19: 45,423,173	L12Q	probably damaging	Het
Cd248	T	C	19: 5,069,023	F300L	possibly damaging	Het
Cdk11b	G	T	4: 155,641,619		probably benign	Het
Cfap44	A	T	16: 44,468,372	D1495V	probably damaging	Het
Chil3	T	A	3: 106,160,478	I124F	probably damaging	Het
Cnot2	A	T	10: 116,517,368	S63T	possibly damaging	Het
Cox8a	G	T	19: 7,215,418	H61N	probably benign	Het
Cpne9	T	C	6: 113,300,601	V427A	probably damaging	Het
Ctsll3	C	A	13: 60,798,595	G301C	probably damaging	Het
Cubn	T	A	2: 13,306,432	D3094V	probably damaging	Het
Cyba	A	T	8: 122,427,238	M65K	possibly damaging	Het
Cyp4f39	T	A	17: 32,486,960	S342T	possibly damaging	Het
Daam2	T	C	17: 49,480,778	I436V	probably benign	Het
Daglb	T	C	5: 143,474,608		probably benign	Het
Dnah7b	T	G	1: 46,223,178	L2067R	probably damaging	Het
Ep300	T	C	15: 81,616,127		probably null	Het
Esm1	A	G	13: 113,216,696	N171D	probably damaging	Het
Fbxl2	T	C	9: 113,985,325	E266G	probably damaging	Het
Ficd	G	T	5: 113,738,819	A352S	probably damaging	Het
H2-Q2	A	G	17: 35,345,176	D302G	probably benign	Het
Hacd3	A	T	9: 65,004,242		probably benign	Het
Kbtbd6	T	A	14: 79,453,024	N386K	probably benign	Het
Lct	T	C	1: 128,327,895	M137V	probably benign	Het
Lilr4b	T	G	10: 51,484,518	N176K	probably benign	Het
Macf1	T	A	4: 123,387,397	H4340L	probably damaging	Het
Mcidas	A	G	13: 112,994,372	D77G	probably damaging	Het
Mmrn1	C	A	6: 60,973,010	Q315K	probably damaging	Het
Mon2	C	A	10: 123,013,512	L1294F	possibly damaging	Het
Muc5ac	A	G	7: 141,795,275	T483A	possibly damaging	Het
Nacc1	T	C	8: 84,674,875		probably benign	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Ngef	A	G	1: 87,540,648		probably benign	Het
Nol8	C	T	13: 49,662,447	A677V	possibly damaging	Het
Ogfod3	A	T	11: 121,195,070		probably benign	Het
Olfr1104	A	C	2: 87,021,790	Y251*	probably null	Het
Olfr767	A	T	10: 129,079,363	V200E	probably damaging	Het
Parpbp	T	C	10: 88,093,009	Y523C	possibly damaging	Het
Pik3cg	C	A	12: 32,204,322	L555F	probably benign	Het
Pkp3	T	G	7: 141,089,763		probably null	Het
Pole	G	T	5: 110,324,425	R1518L	probably damaging	Het
Prkab1	T	C	5: 116,018,085		probably benign	Het
Prrc2a	T	C	17: 35,155,820	T1285A	probably benign	Het
Pus1	C	A	5: 110,774,854	V222L	probably benign	Het
Rab11fip1	A	G	8: 27,143,324	L1118P	probably damaging	Het
Ranbp2	T	A	10: 58,480,046	I2196N	probably damaging	Het
Rims3	T	C	4: 120,887,026	L151P	probably damaging	Het
Rnf130	A	G	11: 50,071,219	D164G	possibly damaging	Het
Rps6ka2	C	A	17: 7,262,186	L293I	probably benign	Het
Ruvbl1	A	G	6: 88,484,459	T269A	possibly damaging	Het
Sema4a	A	T	3: 88,451,422	I10N	probably damaging	Het
Serpinb6e	A	T	13: 33,841,060	S83T	probably benign	Het
Slc12a9	C	A	5: 137,315,288	W803L	probably damaging	Het
Slc3a2	A	G	19: 8,708,073	S188P	probably damaging	Het
Slc7a13	G	A	4: 19,818,782		probably benign	Het
Spg20	A	T	3: 55,127,671	K493*	probably null	Het
Sun1	T	C	5: 139,241,411	V574A	probably damaging	Het
Supt6	A	G	11: 78,208,236	V1603A	probably benign	Het
Tgm5	A	G	2: 121,077,581	V38A	possibly damaging	Het
Tm6sf2	T	C	8: 70,077,868		probably benign	Het
Tnfaip2	T	A	12: 111,445,858	V231E	possibly damaging	Het
Tube1	T	A	10: 39,145,602	M281K	possibly damaging	Het
Tubgcp3	A	G	8: 12,657,561	Y143H	probably benign	Het
Tyrp1	A	G	4: 80,840,778	Y296C	probably damaging	Het
Utp4	A	G	8: 106,894,669	N26S	probably benign	Het
Vgf	T	A	5: 137,031,482		probably benign	Het
Zfat	T	C	15: 68,187,099	K196E	possibly damaging	Het
Zfp366	G	T	13: 99,229,540	S403I	probably damaging	Het
Zfp955a	T	A	17: 33,242,456	Q234L	probably damaging	Het
Zufsp	T	C	10: 33,943,713	T202A	probably damaging	Het

Other mutations in Zfp462

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Zfp462	APN	4	55011483	unclassified	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
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	unclassified	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
R7946:Zfp462	UTSW	4	55007747	missense	probably benign
R7981:Zfp462	UTSW	4	55012995	missense	probably damaging	0.98
R7995:Zfp462	UTSW	4	55011907	missense	probably damaging	1.00
R8023:Zfp462	UTSW	4	55073106	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGATTACACTGCCACCAATGGGG -3'
(R):5'- TCAGGTCCGAATGGTCAAAGTTGAG -3'

Sequencing Primer
(F):5'- CCAATGGGGCGGAGATCG -3'
(R):5'- CACCATAATGCTGTTGGAGGTC -3'

Posted On

2013-04-16