Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00162:Zfp462'

1732

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp462

Ensembl Gene

ENSMUSG00000060206

Gene Name

zinc finger protein 462

Synonyms

9430078C22Rik, Zfpip, Gt4-2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.881) question?

Stock #

IGL00162

Quality Score

Status

Chromosome

Chromosomal Location

54945048-55083563 bp(+) (GRCm39)

Type of Mutation

splice site (3169 bp from exon)

DNA Base Change (assembly)

A to G at 55011483 bp (GRCm39)

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: M2V

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030131
Gene: ENSMUSG00000060206
AA Change: M2V

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: M2V

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078555
Gene: ENSMUSG00000060206
AA Change: M2V

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: M1150V

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: M1150V

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d1b	T	G	4: 108,484,575 (GRCm39)	L470R	probably damaging	Het
Cd96	A	T	16: 45,892,162 (GRCm39)	N275K	possibly damaging	Het
Col22a1	A	G	15: 71,732,807 (GRCm39)		probably null	Het
Cyb561	T	C	11: 105,826,662 (GRCm39)	H197R	probably damaging	Het
Dlgap1	T	C	17: 70,823,080 (GRCm39)	S22P	probably benign	Het
Dnajc6	A	G	4: 101,365,286 (GRCm39)		probably benign	Het
Fgf6	A	T	6: 127,001,048 (GRCm39)	K185N	possibly damaging	Het
Fshr	T	C	17: 89,293,619 (GRCm39)	N353S	probably damaging	Het
Gabbr1	T	A	17: 37,359,335 (GRCm39)	Y103*	probably null	Het
Gm7247	G	A	14: 51,760,962 (GRCm39)	C177Y	possibly damaging	Het
Hikeshi	A	G	7: 89,584,989 (GRCm39)	F72L	probably damaging	Het
Ikzf4	T	C	10: 128,470,416 (GRCm39)	E368G	probably benign	Het
Kdm3b	A	G	18: 34,942,462 (GRCm39)	E851G	probably benign	Het
Kif3b	A	G	2: 153,159,051 (GRCm39)	D284G	probably damaging	Het
Kyat3	G	A	3: 142,440,235 (GRCm39)	A320T	probably benign	Het
Mok	C	T	12: 110,774,631 (GRCm39)		probably benign	Het
Mrgpra3	A	G	7: 47,239,267 (GRCm39)	F220L	probably benign	Het
Nr4a1	T	C	15: 101,168,780 (GRCm39)	V272A	probably damaging	Het
Or10ag58	A	G	2: 87,265,407 (GRCm39)	H192R	probably benign	Het
Or2ag19	A	G	7: 106,444,574 (GRCm39)	Y252C	possibly damaging	Het
Pikfyve	T	A	1: 65,299,280 (GRCm39)		probably null	Het
Plekhn1	T	G	4: 156,307,820 (GRCm39)	T369P	probably damaging	Het
Ptpn12	T	C	5: 21,234,848 (GRCm39)	E45G	probably damaging	Het
Ralgps1	A	T	2: 33,027,694 (GRCm39)	*516R	probably null	Het
Rps23rg1	A	G	8: 3,633,904 (GRCm39)	T2A	probably benign	Het
Senp6	A	G	9: 80,023,892 (GRCm39)	D385G	probably damaging	Het
Siglech	T	C	7: 55,422,339 (GRCm39)		probably benign	Het
Slit1	A	G	19: 41,639,274 (GRCm39)	L212P	probably damaging	Het
Smchd1	T	A	17: 71,772,668 (GRCm39)		probably benign	Het
Snapc4	A	T	2: 26,259,324 (GRCm39)	C609S	probably benign	Het
Strn3	T	C	12: 51,707,979 (GRCm39)	T139A	possibly damaging	Het
Tcaf3	T	C	6: 42,570,319 (GRCm39)	T478A	probably benign	Het
Tlr3	A	G	8: 45,853,727 (GRCm39)	S198P	probably damaging	Het
Ttn	C	T	2: 76,720,823 (GRCm39)		probably benign	Het
Vil1	G	A	1: 74,463,034 (GRCm39)	E406K	probably damaging	Het
Zfyve9	A	G	4: 108,499,304 (GRCm39)	V1338A	possibly damaging	Het

Other mutations in Zfp462

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R2325:Zfp462	UTSW	4	55,013,712 (GRCm39)	missense	probably benign
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

Posted On

2011-07-12