Incidental Mutation 'IGL02750:Zfp462'
ID 306242
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 # IGL02750
Quality Score
Status
Chromosome 4
Chromosomal Location 54945048-55083563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55060236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 1254 (K1254R)
Ref Sequence ENSEMBL: ENSMUSP00000078555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030131] [ENSMUST00000079605] [ENSMUST00000098070]
AlphaFold B1AWL2
Predicted Effect probably null
Transcript: ENSMUST00000030131
AA Change: K1253R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030131
Gene: ENSMUSG00000060206
AA Change: K1253R

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 null
Transcript: ENSMUST00000079605
AA Change: K1254R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078555
Gene: ENSMUSG00000060206
AA Change: K1254R

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 null
Transcript: ENSMUST00000098070
AA Change: K2341R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095677
Gene: ENSMUSG00000060206
AA Change: K2341R

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,460,087 (GRCm39) K884R probably benign Het
Ano3 T A 2: 110,496,329 (GRCm39) probably benign Het
Baz2b C A 2: 59,799,002 (GRCm39) S374I possibly damaging Het
Brd4 G A 17: 32,417,353 (GRCm39) probably benign Het
Cd3g C A 9: 44,882,608 (GRCm39) probably benign Het
Ckmt1 C T 2: 121,194,096 (GRCm39) probably benign Het
Clcnkb T C 4: 141,132,673 (GRCm39) probably null Het
Dkkl1 C T 7: 44,859,536 (GRCm39) probably null Het
Ehmt1 G A 2: 24,753,881 (GRCm39) T161I probably damaging Het
Ern2 A G 7: 121,780,629 (GRCm39) probably benign Het
Fmnl2 T C 2: 52,993,709 (GRCm39) I368T possibly damaging Het
Gabra5 G T 7: 57,157,739 (GRCm39) S25Y probably benign Het
Gemin7 C T 7: 19,299,344 (GRCm39) V84M probably null Het
Gm17654 A G 14: 43,815,656 (GRCm39) probably benign Het
Grk6 T C 13: 55,599,356 (GRCm39) F186S probably damaging Het
Gtf2ird2 A G 5: 134,245,731 (GRCm39) H663R probably damaging Het
Gtf3c1 T A 7: 125,275,684 (GRCm39) I581F probably damaging Het
Herc2 T A 7: 55,854,127 (GRCm39) probably benign Het
Hook3 A T 8: 26,585,782 (GRCm39) probably benign Het
Ints4 T A 7: 97,166,964 (GRCm39) probably null Het
Kpna6 T C 4: 129,555,170 (GRCm39) N20D probably damaging Het
Krtap29-1 T C 11: 99,869,510 (GRCm39) S124G probably benign Het
Krtap4-16 C A 11: 99,742,106 (GRCm39) R98L possibly damaging Het
Lrrc28 T C 7: 67,181,431 (GRCm39) D268G probably damaging Het
Mcm6 T A 1: 128,271,209 (GRCm39) Q470L probably damaging Het
Neb T C 2: 52,181,067 (GRCm39) H1180R probably benign Het
Nxpe3 C A 16: 55,680,738 (GRCm39) V285L probably benign Het
Or10al2 T A 17: 37,983,500 (GRCm39) C195* probably null Het
Or14a260 T A 7: 85,984,752 (GRCm39) N284I probably damaging Het
Or4k37 A G 2: 111,159,633 (GRCm39) R290G probably damaging Het
Pdcd1 A G 1: 93,967,269 (GRCm39) probably benign Het
Pnkp A G 7: 44,509,611 (GRCm39) probably benign Het
Pou4f2 A T 8: 79,161,692 (GRCm39) F304I probably damaging Het
Rita1 G A 5: 120,747,716 (GRCm39) T194M possibly damaging Het
Rnpc3 T C 3: 113,415,588 (GRCm39) T150A possibly damaging Het
Sema3b T C 9: 107,480,363 (GRCm39) T168A probably benign Het
Skint5 T A 4: 113,396,559 (GRCm39) M1205L unknown Het
Sox13 A C 1: 133,311,534 (GRCm39) I566S probably benign Het
Tbc1d32 T C 10: 56,074,587 (GRCm39) T209A possibly damaging Het
Tonsl G T 15: 76,517,589 (GRCm39) P710Q probably damaging Het
Trpm5 T C 7: 142,628,221 (GRCm39) H1018R possibly damaging Het
Ubr2 A T 17: 47,280,208 (GRCm39) M647K probably benign Het
Ubr7 A T 12: 102,737,537 (GRCm39) T395S possibly damaging Het
Uri1 G A 7: 37,666,906 (GRCm39) R176* probably null Het
Vmn1r188 A T 13: 22,272,900 (GRCm39) I285F probably damaging Het
Vmn2r116 T A 17: 23,616,608 (GRCm39) probably benign Het
Vmn2r2 C A 3: 64,024,823 (GRCm39) C586F probably damaging Het
Vmn2r96 T A 17: 18,802,851 (GRCm39) W62R probably benign Het
Zfp24 A T 18: 24,150,410 (GRCm39) S167T possibly damaging 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
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
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 2015-04-16