Incidental Mutation 'IGL01862:Zfp462'
ID 178379
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 # IGL01862
Quality Score
Status
Chromosome 4
Chromosomal Location 54945048-55083563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55023441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 990 (C990S)
Ref Sequence ENSEMBL: ENSMUSP00000078555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030131] [ENSMUST00000079605] [ENSMUST00000098070]
AlphaFold B1AWL2
Predicted Effect probably damaging
Transcript: ENSMUST00000030131
AA Change: C989S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030131
Gene: ENSMUSG00000060206
AA Change: C989S

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000079605
AA Change: C990S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078555
Gene: ENSMUSG00000060206
AA Change: C990S

DomainStartEndE-ValueType
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: C2077S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: C2077S

DomainStartEndE-ValueType
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
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,837,997 (GRCm39) S1085* probably null Het
Akap9 T G 5: 4,001,705 (GRCm39) S94A probably damaging Het
Akap9 T A 5: 4,115,856 (GRCm39) N3425K probably damaging Het
Anapc7 T A 5: 122,578,182 (GRCm39) I389N probably benign Het
Aqp7 G A 4: 41,045,321 (GRCm39) R20* probably null Het
Cacna1h C T 17: 25,602,457 (GRCm39) G1524R probably damaging Het
Cacng4 T C 11: 107,685,196 (GRCm39) Y32C probably damaging Het
Cep120 A C 18: 53,847,839 (GRCm39) S673R probably benign Het
Cep162 T C 9: 87,135,986 (GRCm39) E19G possibly damaging Het
Cpxm2 C T 7: 131,661,540 (GRCm39) V416I probably benign Het
Dapk1 A G 13: 60,874,424 (GRCm39) T427A probably benign Het
Ecm1 A T 3: 95,641,586 (GRCm39) D549E probably benign Het
Efemp1 T A 11: 28,871,428 (GRCm39) N342K probably damaging Het
Erc2 T C 14: 27,993,526 (GRCm39) probably benign Het
Fhip2b C T 14: 70,825,130 (GRCm39) R402H probably benign Het
Galnt13 T C 2: 54,747,926 (GRCm39) V269A probably damaging Het
Gm6465 T G 5: 11,899,020 (GRCm39) L171R probably damaging Het
Gpatch1 A G 7: 34,994,703 (GRCm39) V521A probably benign Het
Heatr5b A T 17: 79,103,914 (GRCm39) V1087E possibly damaging Het
Ikzf2 A T 1: 69,578,057 (GRCm39) V484D probably damaging Het
Ints4 T A 7: 97,190,360 (GRCm39) V953E probably damaging Het
Iqce T C 5: 140,685,480 (GRCm39) D15G possibly damaging Het
Kif3a T A 11: 53,461,368 (GRCm39) N4K possibly damaging Het
Lrch4 A T 5: 137,635,271 (GRCm39) I254F probably damaging Het
Ly75 A T 2: 60,129,516 (GRCm39) V1623D probably damaging Het
Mapt T A 11: 104,180,828 (GRCm39) probably benign Het
Mast1 A T 8: 85,639,875 (GRCm39) probably null Het
Mcc G T 18: 44,892,363 (GRCm39) Q84K probably benign Het
Mgat4f G A 1: 134,318,349 (GRCm39) V374I probably benign Het
Mtfr2 G A 10: 20,224,149 (GRCm39) V28M probably benign Het
Myh8 T A 11: 67,180,520 (GRCm39) Y585* probably null Het
Napsa T C 7: 44,231,917 (GRCm39) V202A probably damaging Het
Nsd2 A G 5: 34,001,080 (GRCm39) K199R probably null Het
Ntpcr C T 8: 126,462,837 (GRCm39) A18V probably benign Het
Or2aj4 A T 16: 19,385,426 (GRCm39) M69K probably damaging Het
Or2g25 G T 17: 37,970,368 (GRCm39) N285K probably damaging Het
Or56b35 T A 7: 104,963,439 (GRCm39) I76N probably damaging Het
Or5g9 G T 2: 85,552,472 (GRCm39) C241F probably damaging Het
Or8b9 A G 9: 37,766,477 (GRCm39) D121G probably damaging Het
Os9 A G 10: 126,935,573 (GRCm39) V299A probably benign Het
Pcdhb7 T C 18: 37,476,915 (GRCm39) S684P possibly damaging Het
Phf19 A C 2: 34,787,067 (GRCm39) probably null Het
Pkd1l3 G A 8: 110,357,908 (GRCm39) probably null Het
Pkhd1 A G 1: 20,429,134 (GRCm39) I2422T probably damaging Het
Plxna2 T A 1: 194,326,258 (GRCm39) V64E possibly damaging Het
Psme4 T A 11: 30,762,038 (GRCm39) C459* probably null Het
Ptk6 T C 2: 180,841,433 (GRCm39) S159G probably benign Het
Rhd T C 4: 134,617,650 (GRCm39) I329T possibly damaging Het
Scfd1 A G 12: 51,492,494 (GRCm39) Y601C probably damaging Het
Shroom3 T C 5: 93,110,148 (GRCm39) S1753P probably damaging Het
Slc8a1 A C 17: 81,749,630 (GRCm39) probably null Het
Spg7 T A 8: 123,803,669 (GRCm39) L233Q probably damaging Het
Strip1 C A 3: 107,529,198 (GRCm39) R353L probably damaging Het
Ubr1 T C 2: 120,764,823 (GRCm39) N544D possibly damaging Het
Ubr4 A G 4: 139,204,469 (GRCm39) T4794A possibly damaging Het
Usp24 A G 4: 106,266,095 (GRCm39) probably benign Het
Vmn1r193 A T 13: 22,403,984 (GRCm39) C3S probably benign Het
Yju2b G T 8: 84,987,163 (GRCm39) probably benign Het
Zdhhc5 C T 2: 84,520,836 (GRCm39) R447H probably benign Het
Zfp202 A G 9: 40,123,124 (GRCm39) I629V probably benign Het
Other mutations in Zfp462
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2014-05-07