Mutagenetix > Incidental Mutation

Incidental Mutation 'R5525:Zfp462'

431806

Institutional Source

Beutler Lab

Gene Symbol

Zfp462

Ensembl Gene

ENSMUSG00000060206

Gene Name

zinc finger protein 462

Synonyms

Zfpip, 9430078C22Rik, Gt4-2

MMRRC Submission

043083-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.819) question?

Stock #

R5525 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54945048-55083563 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55050281 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 2164 (P2164T)

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: P1076T

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030131
Gene: ENSMUSG00000060206
AA Change: P1076T

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: P1077T

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078555
Gene: ENSMUSG00000060206
AA Change: P1077T

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: P2164T

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: P2164T

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: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.9%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 79,099,983	T1501A	probably benign	Het
Acin1	G	A	14: 54,664,391	A648V	possibly damaging	Het
Agap1	A	G	1: 89,743,773	T401A	possibly damaging	Het
Anapc4	T	G	5: 52,856,809	M440R	probably damaging	Het
Ankrd26	A	G	6: 118,527,731	M739T	probably benign	Het
Brip1	T	C	11: 86,110,447	E721G	possibly damaging	Het
Bzw1	A	G	1: 58,402,906	E221G	possibly damaging	Het
Cenpm	A	C	15: 82,239,291		probably null	Het
Exosc1	T	A	19: 41,924,018	K143N	probably damaging	Het
Fgd5	T	A	6: 92,066,247	L1236Q	probably damaging	Het
Gemin6	T	G	17: 80,227,749	V46G	probably damaging	Het
Grm3	C	T	5: 9,504,872	V807I	probably damaging	Het
Kndc1	A	G	7: 139,924,111	N1110S	probably benign	Het
Magi1	A	T	6: 93,792,373	V17D	possibly damaging	Het
Mdn1	T	G	4: 32,767,961	M5298R	possibly damaging	Het
Nlrp9c	T	A	7: 26,384,501	E551V	probably damaging	Het
Oacyl	A	C	18: 65,745,356	I457L	probably benign	Het
Olfr103	C	T	17: 37,336,626	G202D	probably damaging	Het
Olfr1102	A	T	2: 87,002,339	E123D	possibly damaging	Het
Olfr494	A	G	7: 108,367,999	I170V	probably benign	Het
Rab11fip3	T	C	17: 25,991,295	E996G	probably damaging	Het
Rabep1	T	A	11: 70,923,146	S554T	probably damaging	Het
Rln1	T	C	19: 29,334,520	E26G	probably benign	Het
Rpf1	A	G	3: 146,517,804		silent	Het
Sdk1	T	C	5: 142,185,265	V1961A	possibly damaging	Het
Serpinb8	A	T	1: 107,607,293	I365F	probably damaging	Het
Shank2	A	G	7: 144,070,109	D277G	probably damaging	Het
Snapc4	ACTGCTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGC	2: 26,369,526		probably benign	Het
Thsd7a	T	C	6: 12,332,007	T1269A	possibly damaging	Het
Ttll3	A	G	6: 113,412,978	N776D	probably benign	Het
Unc80	A	G	1: 66,606,614	E1483G	possibly damaging	Het
Ush2a	A	G	1: 188,753,606	D2971G	probably benign	Het
Zfp322a	A	G	13: 23,357,515	V19A	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
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
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
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'- TGTGCAGTAAAGGGCTTCCAG -3'
(R):5'- CACCACTTACTTAAAGCCGGTG -3'

Sequencing Primer
(F):5'- TAAAGGGCTTCCAGGCAAGC -3'
(R):5'- CCACTTACTTAAAGCCGGTGTAAAAG -3'

Posted On

2016-10-05