Mutagenetix > Incidental Mutation

Incidental Mutation 'R2325:Zfp462'

244874

Institutional Source

Beutler Lab

Gene Symbol

Zfp462

Ensembl Gene

ENSMUSG00000060206

Gene Name

zinc finger protein 462

Synonyms

9430078C22Rik, Zfpip, Gt4-2

MMRRC Submission

040316-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R2325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54945048-55083563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55013712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1893 (I1893L)

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: I745L

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

SMART Domains

Protein: ENSMUSP00000030131
Gene: ENSMUSG00000060206
AA Change: I745L

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: I745L

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

SMART Domains

Protein: ENSMUSP00000078555
Gene: ENSMUSG00000060206
AA Change: I745L

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: I1893L

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

SMART Domains

Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: I1893L

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: 95.3%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	C	13: 4,573,295 (GRCm39)	T7A	probably benign	Het
Atoh7	C	A	10: 62,935,924 (GRCm39)		probably benign	Het
Atp2b1	C	T	10: 98,854,757 (GRCm39)	Q219*	probably null	Het
B3galt2	A	G	1: 143,522,926 (GRCm39)	D354G	probably benign	Het
Cdh9	A	G	15: 16,778,286 (GRCm39)	R34G	probably benign	Het
Cyp4x1	A	T	4: 114,981,576 (GRCm39)	C126S	probably benign	Het
Dse	A	T	10: 34,060,043 (GRCm39)	S21T	probably benign	Het
Ell2	T	A	13: 75,917,745 (GRCm39)	H558Q	probably damaging	Het
Elp1	A	T	4: 56,784,622 (GRCm39)	M457K	probably benign	Het
Esco2	A	T	14: 66,064,027 (GRCm39)		probably null	Het
Fam170a	A	G	18: 50,414,917 (GRCm39)	K188E	possibly damaging	Het
Gin1	A	C	1: 97,720,286 (GRCm39)	Y516S	probably damaging	Het
Gm8439	A	G	4: 120,446,048 (GRCm39)	E16G	unknown	Het
Gtf2b	A	G	3: 142,485,851 (GRCm39)	T176A	probably damaging	Het
Kcnh6	C	T	11: 105,924,661 (GRCm39)	S822F	probably benign	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Lrp8	A	T	4: 107,721,206 (GRCm39)	D602V	probably benign	Het
Med12l	A	G	3: 59,139,875 (GRCm39)	T817A	probably damaging	Het
Mroh9	A	C	1: 162,854,099 (GRCm39)		probably null	Het
N4bp1	T	C	8: 87,575,088 (GRCm39)	I736V	probably damaging	Het
Nebl	T	C	2: 17,397,827 (GRCm39)	K490E	possibly damaging	Het
P2ry1	A	T	3: 60,910,999 (GRCm39)	K46M	probably damaging	Het
Ppp1r37	A	T	7: 19,266,609 (GRCm39)	L426H	probably damaging	Het
Prkci	T	A	3: 31,085,217 (GRCm39)		probably null	Het
Prss35	G	A	9: 86,638,357 (GRCm39)	G376R	probably damaging	Het
Scube2	C	G	7: 109,443,161 (GRCm39)	C226S	probably damaging	Het
Slc26a5	T	G	5: 22,024,692 (GRCm39)	Y469S	probably damaging	Het
Stil	T	A	4: 114,889,904 (GRCm39)	D797E	probably benign	Het
Thbs2	A	T	17: 14,910,551 (GRCm39)		probably null	Het
Tmem132e	C	A	11: 82,325,341 (GRCm39)	L114M	probably damaging	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Vmn1r173	T	A	7: 23,402,537 (GRCm39)	C257*	probably null	Het
Zc3h15	G	A	2: 83,483,783 (GRCm39)	G53S	probably damaging	Het

Other mutations in Zfp462

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Zfp462	APN	4	55,011,483 (GRCm39)	splice site	probably null
IGL00421:Zfp462	APN	4	55,023,576 (GRCm39)	missense	probably benign	0.00
IGL00899:Zfp462	APN	4	55,007,732 (GRCm39)	missense	probably damaging	1.00
IGL01549:Zfp462	APN	4	55,013,181 (GRCm39)	missense	probably damaging	1.00
IGL01627:Zfp462	APN	4	55,008,912 (GRCm39)	missense	possibly damaging	0.93
IGL01715:Zfp462	APN	4	55,008,586 (GRCm39)	missense	probably benign	0.20
IGL01862:Zfp462	APN	4	55,023,441 (GRCm39)	missense	probably damaging	1.00
IGL01878:Zfp462	APN	4	55,010,613 (GRCm39)	missense	probably damaging	1.00
IGL01913:Zfp462	APN	4	55,012,138 (GRCm39)	missense	probably benign	0.04
IGL02029:Zfp462	APN	4	55,079,395 (GRCm39)	splice site	probably benign
IGL02338:Zfp462	APN	4	55,010,292 (GRCm39)	missense	possibly damaging	0.88
IGL02552:Zfp462	APN	4	55,010,613 (GRCm39)	missense	probably damaging	1.00
IGL02623:Zfp462	APN	4	55,012,986 (GRCm39)	missense	probably damaging	1.00
IGL02750:Zfp462	APN	4	55,060,236 (GRCm39)	missense	probably null	1.00
IGL02815:Zfp462	APN	4	55,051,303 (GRCm39)	missense	probably damaging	1.00
IGL03204:Zfp462	APN	4	55,080,785 (GRCm39)	missense	possibly damaging	0.80
FR4304:Zfp462	UTSW	4	55,009,758 (GRCm39)	unclassified	probably benign
FR4304:Zfp462	UTSW	4	55,009,757 (GRCm39)	unclassified	probably benign
FR4737:Zfp462	UTSW	4	55,009,760 (GRCm39)	unclassified	probably benign
FR4737:Zfp462	UTSW	4	55,009,758 (GRCm39)	unclassified	probably benign
FR4976:Zfp462	UTSW	4	55,009,761 (GRCm39)	unclassified	probably benign
FR4976:Zfp462	UTSW	4	55,009,760 (GRCm39)	unclassified	probably benign
P0035:Zfp462	UTSW	4	55,009,086 (GRCm39)	missense	probably benign
R0052:Zfp462	UTSW	4	55,011,762 (GRCm39)	missense	probably benign	0.03
R0143:Zfp462	UTSW	4	55,023,402 (GRCm39)	splice site	probably benign
R0145:Zfp462	UTSW	4	55,010,529 (GRCm39)	missense	probably damaging	1.00
R0315:Zfp462	UTSW	4	55,079,314 (GRCm39)	missense	probably damaging	0.99
R0349:Zfp462	UTSW	4	55,008,768 (GRCm39)	missense	probably benign
R0359:Zfp462	UTSW	4	55,013,689 (GRCm39)	missense	probably damaging	1.00
R0413:Zfp462	UTSW	4	55,010,534 (GRCm39)	missense	probably damaging	0.99
R0554:Zfp462	UTSW	4	55,013,689 (GRCm39)	missense	probably damaging	1.00
R0616:Zfp462	UTSW	4	55,011,951 (GRCm39)	missense	probably damaging	1.00
R0631:Zfp462	UTSW	4	55,007,563 (GRCm39)	start codon destroyed	possibly damaging	0.60
R1086:Zfp462	UTSW	4	55,013,000 (GRCm39)	missense	probably damaging	1.00
R1499:Zfp462	UTSW	4	55,060,046 (GRCm39)	missense	probably damaging	1.00
R1509:Zfp462	UTSW	4	55,007,667 (GRCm39)	missense	probably damaging	1.00
R1526:Zfp462	UTSW	4	55,009,002 (GRCm39)	missense	probably benign
R1541:Zfp462	UTSW	4	55,008,928 (GRCm39)	missense	possibly damaging	0.53
R1691:Zfp462	UTSW	4	55,013,489 (GRCm39)	missense	possibly damaging	0.70
R1843:Zfp462	UTSW	4	55,010,010 (GRCm39)	missense	possibly damaging	0.88
R2086:Zfp462	UTSW	4	55,010,830 (GRCm39)	missense	probably damaging	1.00
R2109:Zfp462	UTSW	4	55,008,496 (GRCm39)	missense	probably benign	0.00
R2148:Zfp462	UTSW	4	55,013,670 (GRCm39)	missense	probably benign	0.01
R2179:Zfp462	UTSW	4	55,009,524 (GRCm39)	missense	possibly damaging	0.73
R2352:Zfp462	UTSW	4	55,008,313 (GRCm39)	missense	probably null
R2566:Zfp462	UTSW	4	55,008,522 (GRCm39)	missense	probably benign	0.00
R3879:Zfp462	UTSW	4	55,060,095 (GRCm39)	missense	probably damaging	1.00
R3969:Zfp462	UTSW	4	55,012,402 (GRCm39)	missense	probably damaging	1.00
R4273:Zfp462	UTSW	4	55,008,411 (GRCm39)	missense	probably benign	0.00
R4413:Zfp462	UTSW	4	55,012,672 (GRCm39)	missense	probably damaging	0.99
R4510:Zfp462	UTSW	4	55,008,934 (GRCm39)	missense	possibly damaging	0.86
R4511:Zfp462	UTSW	4	55,008,934 (GRCm39)	missense	possibly damaging	0.86
R4609:Zfp462	UTSW	4	55,011,889 (GRCm39)	missense	probably damaging	1.00
R4632:Zfp462	UTSW	4	55,012,981 (GRCm39)	missense	probably damaging	1.00
R4649:Zfp462	UTSW	4	55,009,349 (GRCm39)	missense	probably benign
R4682:Zfp462	UTSW	4	55,011,376 (GRCm39)	missense	probably damaging	1.00
R4696:Zfp462	UTSW	4	55,008,612 (GRCm39)	missense	probably benign
R4744:Zfp462	UTSW	4	55,011,598 (GRCm39)	missense	probably damaging	1.00
R4747:Zfp462	UTSW	4	55,013,476 (GRCm39)	missense	probably benign	0.00
R4819:Zfp462	UTSW	4	55,060,044 (GRCm39)	missense	probably damaging	1.00
R4827:Zfp462	UTSW	4	55,012,213 (GRCm39)	missense	probably damaging	1.00
R4854:Zfp462	UTSW	4	55,010,668 (GRCm39)	missense	probably damaging	1.00
R4879:Zfp462	UTSW	4	55,009,444 (GRCm39)	missense	probably benign	0.02
R4891:Zfp462	UTSW	4	55,060,055 (GRCm39)	missense	probably damaging	1.00
R4993:Zfp462	UTSW	4	55,051,204 (GRCm39)	missense	possibly damaging	0.62
R5118:Zfp462	UTSW	4	55,010,667 (GRCm39)	missense	probably damaging	1.00
R5171:Zfp462	UTSW	4	55,016,986 (GRCm39)	splice site	probably null
R5173:Zfp462	UTSW	4	55,011,115 (GRCm39)	missense	probably damaging	0.99
R5221:Zfp462	UTSW	4	55,016,887 (GRCm39)	missense	possibly damaging	0.86
R5268:Zfp462	UTSW	4	55,012,299 (GRCm39)	missense	probably benign
R5314:Zfp462	UTSW	4	55,013,178 (GRCm39)	missense	probably damaging	1.00
R5429:Zfp462	UTSW	4	55,060,077 (GRCm39)	missense	probably damaging	1.00
R5518:Zfp462	UTSW	4	55,009,818 (GRCm39)	missense	probably damaging	0.99
R5525:Zfp462	UTSW	4	55,050,281 (GRCm39)	missense	possibly damaging	0.73
R5620:Zfp462	UTSW	4	55,013,464 (GRCm39)	missense	probably benign	0.01
R5775:Zfp462	UTSW	4	55,010,590 (GRCm39)	missense	probably damaging	0.99
R6126:Zfp462	UTSW	4	55,023,573 (GRCm39)	missense	probably benign	0.01
R6280:Zfp462	UTSW	4	55,010,253 (GRCm39)	missense	probably benign	0.00
R6325:Zfp462	UTSW	4	55,080,680 (GRCm39)	missense	probably benign	0.04
R6542:Zfp462	UTSW	4	55,023,433 (GRCm39)	missense	probably damaging	1.00
R6612:Zfp462	UTSW	4	55,012,324 (GRCm39)	splice site	probably null
R6663:Zfp462	UTSW	4	55,008,933 (GRCm39)	missense	possibly damaging	0.53
R6872:Zfp462	UTSW	4	55,012,326 (GRCm39)	missense	probably benign	0.01
R6889:Zfp462	UTSW	4	55,007,671 (GRCm39)	missense	probably damaging	1.00
R6896:Zfp462	UTSW	4	55,009,544 (GRCm39)	missense	possibly damaging	0.72
R6913:Zfp462	UTSW	4	55,007,775 (GRCm39)	missense	probably benign	0.25
R6988:Zfp462	UTSW	4	55,080,716 (GRCm39)	missense	probably benign	0.00
R7131:Zfp462	UTSW	4	55,009,380 (GRCm39)	missense	probably benign
R7151:Zfp462	UTSW	4	55,051,271 (GRCm39)	missense	probably damaging	0.99
R7684:Zfp462	UTSW	4	55,008,908 (GRCm39)	missense	probably benign
R7741:Zfp462	UTSW	4	55,008,637 (GRCm39)	missense	probably benign	0.00
R7750:Zfp462	UTSW	4	55,016,958 (GRCm39)	missense	probably benign	0.06
R7812:Zfp462	UTSW	4	55,008,509 (GRCm39)	missense	probably benign	0.00
R7863:Zfp462	UTSW	4	55,007,747 (GRCm39)	missense	probably benign
R7898:Zfp462	UTSW	4	55,012,995 (GRCm39)	missense	probably damaging	0.98
R7993:Zfp462	UTSW	4	55,011,907 (GRCm39)	missense	probably damaging	1.00
R7995:Zfp462	UTSW	4	55,011,907 (GRCm39)	missense	probably damaging	1.00
R8023:Zfp462	UTSW	4	55,073,106 (GRCm39)	critical splice donor site	probably null
R8394:Zfp462	UTSW	4	55,011,862 (GRCm39)	missense	probably damaging	1.00
R8669:Zfp462	UTSW	4	55,051,313 (GRCm39)	missense	probably damaging	0.99
R8877:Zfp462	UTSW	4	55,011,097 (GRCm39)	missense	probably damaging	0.98
R8980:Zfp462	UTSW	4	55,009,681 (GRCm39)	unclassified	probably benign
R9023:Zfp462	UTSW	4	55,007,563 (GRCm39)	start codon destroyed	probably null	0.00
R9243:Zfp462	UTSW	4	55,009,595 (GRCm39)	nonsense	probably null
R9378:Zfp462	UTSW	4	55,011,510 (GRCm39)	missense	probably benign	0.00
R9417:Zfp462	UTSW	4	55,016,988 (GRCm39)	missense	probably benign	0.26
R9476:Zfp462	UTSW	4	55,080,735 (GRCm39)	missense	probably benign
R9510:Zfp462	UTSW	4	55,080,735 (GRCm39)	missense	probably benign
R9610:Zfp462	UTSW	4	55,009,545 (GRCm39)	missense	possibly damaging	0.73
R9628:Zfp462	UTSW	4	55,009,423 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCTCAAGACATCGAGTGGC -3'
(R):5'- AACGAAGTACATGTGGGCAC -3'

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

Posted On

2014-10-30