Incidental Mutation 'IGL01325:Zfp423'
ID 74214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp423
Ensembl Gene ENSMUSG00000045333
Gene Name zinc finger protein 423
Synonyms Roaz, Zfp104, Ebfaz, ataxia1
Accession Numbers
Essential gene? Probably essential (E-score: 0.832) question?
Stock # IGL01325
Quality Score
Status
Chromosome 8
Chromosomal Location 88388438-88686223 bp(-) (GRCm39)
Type of Mutation splice site (1381 bp from exon)
DNA Base Change (assembly) A to T at 88508239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052250] [ENSMUST00000109655] [ENSMUST00000165770] [ENSMUST00000174249] [ENSMUST00000174764]
AlphaFold Q80TS5
Predicted Effect probably damaging
Transcript: ENSMUST00000052250
AA Change: C681S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052379
Gene: ENSMUSG00000045333
AA Change: C681S

DomainStartEndE-ValueType
low complexity region 39 51 N/A INTRINSIC
ZnF_C2H2 54 75 5.07e0 SMART
low complexity region 107 123 N/A INTRINSIC
ZnF_C2H2 125 147 1.28e-3 SMART
ZnF_C2H2 153 175 1.64e-1 SMART
ZnF_C2H2 181 203 2.05e-2 SMART
ZnF_C2H2 209 231 3.21e-4 SMART
ZnF_C2H2 250 273 5.42e-2 SMART
ZnF_C2H2 282 305 1.76e-1 SMART
ZnF_C2H2 310 332 8.67e-1 SMART
low complexity region 350 364 N/A INTRINSIC
ZnF_C2H2 396 420 1.16e-1 SMART
ZnF_C2H2 428 451 3.52e-1 SMART
ZnF_C2H2 467 490 7.9e-4 SMART
low complexity region 492 503 N/A INTRINSIC
ZnF_C2H2 504 527 2.53e-2 SMART
ZnF_C2H2 550 575 3.99e0 SMART
low complexity region 591 602 N/A INTRINSIC
ZnF_C2H2 619 641 3.16e-3 SMART
ZnF_C2H2 649 671 5.81e-2 SMART
ZnF_C2H2 679 702 4.87e-4 SMART
ZnF_C2H2 707 730 7.26e-3 SMART
ZnF_C2H2 737 760 4.79e-3 SMART
ZnF_C2H2 768 790 1.36e-2 SMART
ZnF_C2H2 794 817 4.72e-2 SMART
ZnF_C2H2 873 896 4.12e0 SMART
ZnF_C2H2 917 939 5.59e-4 SMART
ZnF_C2H2 946 968 6.42e-4 SMART
ZnF_C2H2 975 997 4.94e0 SMART
ZnF_C2H2 1007 1029 4.99e1 SMART
Pfam:zf-C2H2_6 1050 1068 1.6e-1 PFAM
ZnF_C2H2 1107 1130 1.12e-3 SMART
ZnF_C2H2 1155 1177 1.45e-2 SMART
ZnF_C2H2 1185 1207 5.72e-1 SMART
ZnF_C2H2 1216 1239 1.18e-2 SMART
ZnF_C2H2 1246 1269 4.05e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109655
AA Change: C702S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105282
Gene: ENSMUSG00000045333
AA Change: C702S

DomainStartEndE-ValueType
low complexity region 60 72 N/A INTRINSIC
ZnF_C2H2 75 96 5.07e0 SMART
low complexity region 128 144 N/A INTRINSIC
ZnF_C2H2 146 168 1.28e-3 SMART
ZnF_C2H2 174 196 1.64e-1 SMART
ZnF_C2H2 202 224 2.05e-2 SMART
ZnF_C2H2 230 252 3.21e-4 SMART
ZnF_C2H2 271 294 5.42e-2 SMART
ZnF_C2H2 303 326 1.76e-1 SMART
ZnF_C2H2 331 353 8.67e-1 SMART
low complexity region 371 385 N/A INTRINSIC
ZnF_C2H2 417 441 1.16e-1 SMART
ZnF_C2H2 449 472 3.52e-1 SMART
ZnF_C2H2 488 511 7.9e-4 SMART
low complexity region 513 524 N/A INTRINSIC
ZnF_C2H2 525 548 2.53e-2 SMART
ZnF_C2H2 571 596 3.99e0 SMART
low complexity region 612 623 N/A INTRINSIC
ZnF_C2H2 640 662 3.16e-3 SMART
ZnF_C2H2 670 692 5.81e-2 SMART
ZnF_C2H2 700 723 4.87e-4 SMART
ZnF_C2H2 728 751 7.26e-3 SMART
ZnF_C2H2 758 781 4.79e-3 SMART
ZnF_C2H2 789 811 1.36e-2 SMART
ZnF_C2H2 815 838 4.72e-2 SMART
ZnF_C2H2 894 917 4.12e0 SMART
ZnF_C2H2 938 960 5.59e-4 SMART
ZnF_C2H2 967 989 6.42e-4 SMART
ZnF_C2H2 996 1018 4.94e0 SMART
ZnF_C2H2 1028 1050 4.99e1 SMART
ZnF_C2H2 1128 1151 1.12e-3 SMART
ZnF_C2H2 1176 1198 1.45e-2 SMART
ZnF_C2H2 1206 1228 5.72e-1 SMART
ZnF_C2H2 1237 1260 1.18e-2 SMART
ZnF_C2H2 1267 1290 4.05e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000165770
AA Change: C577S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129724
Gene: ENSMUSG00000045333
AA Change: C577S

DomainStartEndE-ValueType
low complexity region 3 19 N/A INTRINSIC
ZnF_C2H2 21 43 1.28e-3 SMART
ZnF_C2H2 49 71 1.64e-1 SMART
ZnF_C2H2 77 99 2.05e-2 SMART
ZnF_C2H2 105 127 3.21e-4 SMART
ZnF_C2H2 146 169 5.42e-2 SMART
ZnF_C2H2 178 201 1.76e-1 SMART
ZnF_C2H2 206 228 8.67e-1 SMART
low complexity region 246 260 N/A INTRINSIC
ZnF_C2H2 292 316 1.16e-1 SMART
ZnF_C2H2 324 347 3.52e-1 SMART
ZnF_C2H2 363 386 7.9e-4 SMART
low complexity region 388 399 N/A INTRINSIC
ZnF_C2H2 400 423 2.53e-2 SMART
ZnF_C2H2 446 471 3.99e0 SMART
low complexity region 487 498 N/A INTRINSIC
ZnF_C2H2 515 537 3.16e-3 SMART
ZnF_C2H2 545 567 5.81e-2 SMART
ZnF_C2H2 575 598 4.87e-4 SMART
ZnF_C2H2 603 626 7.26e-3 SMART
ZnF_C2H2 633 656 4.79e-3 SMART
ZnF_C2H2 664 686 1.36e-2 SMART
ZnF_C2H2 690 713 4.72e-2 SMART
ZnF_C2H2 769 792 4.12e0 SMART
ZnF_C2H2 813 835 5.59e-4 SMART
ZnF_C2H2 842 864 6.42e-4 SMART
ZnF_C2H2 871 893 4.94e0 SMART
ZnF_C2H2 903 925 4.99e1 SMART
Pfam:zf-C2H2_6 946 964 2.5e-1 PFAM
ZnF_C2H2 1003 1026 1.12e-3 SMART
ZnF_C2H2 1051 1073 1.45e-2 SMART
ZnF_C2H2 1081 1103 5.72e-1 SMART
ZnF_C2H2 1112 1135 1.18e-2 SMART
ZnF_C2H2 1142 1165 4.05e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173725
Predicted Effect probably null
Transcript: ENSMUST00000174249
SMART Domains Protein: ENSMUSP00000134103
Gene: ENSMUSG00000045333

DomainStartEndE-ValueType
low complexity region 60 76 N/A INTRINSIC
ZnF_C2H2 78 100 1.28e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000174764
SMART Domains Protein: ENSMUSP00000134575
Gene: ENSMUSG00000045333

DomainStartEndE-ValueType
low complexity region 63 75 N/A INTRINSIC
ZnF_C2H2 78 99 5.07e0 SMART
low complexity region 131 147 N/A INTRINSIC
ZnF_C2H2 149 171 1.28e-3 SMART
ZnF_C2H2 177 199 1.64e-1 SMART
ZnF_C2H2 205 227 2.05e-2 SMART
Pfam:zf-C2H2_6 232 244 2.5e-1 PFAM
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 is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mutations in this gene lead to postnatal lethality, abnormal gait, ataxia, reduced body size, loss of the corpus callosum, reduction of the hippocampus, olfactory bulb defects, and variable malformation of the cerebellum, including vermis agenesis, due to reduced proliferation of neural precursors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,347 (GRCm39) T127A probably damaging Het
Acrv1 T A 9: 36,609,810 (GRCm39) M227K probably benign Het
Adam22 T C 5: 8,177,333 (GRCm39) N592S probably benign Het
Adamts15 T A 9: 30,832,984 (GRCm39) I184F possibly damaging Het
Adcy1 T C 11: 7,014,102 (GRCm39) V168A possibly damaging Het
Arl6ip5 T C 6: 97,209,501 (GRCm39) F179L probably benign Het
Asxl2 G T 12: 3,477,172 (GRCm39) R6L probably damaging Het
Btaf1 T A 19: 36,982,049 (GRCm39) probably benign Het
Ccdc136 T C 6: 29,412,949 (GRCm39) F445L probably benign Het
Cpne3 T C 4: 19,535,229 (GRCm39) S268G probably benign Het
Crtc3 C T 7: 80,327,116 (GRCm39) R70Q probably damaging Het
Fam169a C A 13: 97,259,207 (GRCm39) A421E probably benign Het
Fhod1 A T 8: 106,058,281 (GRCm39) M825K probably benign Het
Gjb2 T C 14: 57,337,678 (GRCm39) T177A probably benign Het
Gm6576 A G 15: 27,025,970 (GRCm39) noncoding transcript Het
Herpud2 A G 9: 25,025,207 (GRCm39) V175A probably benign Het
Hmgxb3 T C 18: 61,267,078 (GRCm39) D1052G probably damaging Het
Itpr1 T A 6: 108,358,169 (GRCm39) F578L probably benign Het
Kdm7a T G 6: 39,135,243 (GRCm39) probably benign Het
Krt76 A T 15: 101,793,323 (GRCm39) S572T unknown Het
Lrrcc1 T C 3: 14,601,601 (GRCm39) probably null Het
Marchf9 A C 10: 126,893,459 (GRCm39) V183G probably damaging Het
Mrtfb T C 16: 13,219,088 (GRCm39) V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 (GRCm39) D123E probably benign Het
Nhlh2 T G 3: 101,920,342 (GRCm39) Y125D probably damaging Het
Nol4l A G 2: 153,278,271 (GRCm39) probably benign Het
Npas1 C T 7: 16,197,247 (GRCm39) G206D probably benign Het
Or52h9 T C 7: 104,202,896 (GRCm39) F257L probably damaging Het
Or5ak24 C A 2: 85,260,639 (GRCm39) C178F possibly damaging Het
Pcdhb4 T A 18: 37,442,676 (GRCm39) V662E probably damaging Het
Plxna3 G A X: 73,379,400 (GRCm39) G758S probably damaging Het
Prdm15 T A 16: 97,607,717 (GRCm39) N709Y probably damaging Het
Pygo2 C T 3: 89,339,753 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,120 (GRCm39) S947T probably damaging Het
Rasgrp1 T A 2: 117,129,010 (GRCm39) H203L probably damaging Het
Rbbp6 G A 7: 122,587,841 (GRCm39) G270R probably damaging Het
Rcl1 A G 19: 29,098,662 (GRCm39) probably null Het
Rpl23a-ps1 T C 1: 46,020,793 (GRCm39) noncoding transcript Het
Serpinb7 T G 1: 107,363,110 (GRCm39) H91Q probably damaging Het
Shd C T 17: 56,279,839 (GRCm39) P111S possibly damaging Het
Slc35e1 G T 8: 73,237,602 (GRCm39) probably benign Het
Srgap3 C T 6: 112,752,647 (GRCm39) R279H probably damaging Het
Sstr4 G A 2: 148,237,472 (GRCm39) E28K probably benign Het
Stip1 T C 19: 6,998,464 (GRCm39) probably benign Het
Syne2 A G 12: 75,973,288 (GRCm39) E1097G probably benign Het
Tbcd T A 11: 121,431,819 (GRCm39) V489E probably damaging Het
Tnks2 T A 19: 36,849,033 (GRCm39) S516R probably benign Het
Trmt44 T A 5: 35,726,147 (GRCm39) R343S possibly damaging Het
Trps1 A G 15: 50,710,210 (GRCm39) S47P probably benign Het
Ubr3 A C 2: 69,747,441 (GRCm39) K235Q possibly damaging Het
Uckl1 G A 2: 181,216,754 (GRCm39) Q48* probably null Het
Vat1 T C 11: 101,356,541 (GRCm39) D140G probably benign Het
Vmn2r80 A G 10: 79,030,081 (GRCm39) T636A possibly damaging Het
Zfp667 C A 7: 6,293,545 (GRCm39) T15N probably damaging Het
Other mutations in Zfp423
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Zfp423 APN 8 88,507,290 (GRCm39) missense probably damaging 1.00
IGL01780:Zfp423 APN 8 88,508,136 (GRCm39) missense probably damaging 1.00
IGL02250:Zfp423 APN 8 88,509,883 (GRCm39) missense probably damaging 1.00
IGL02301:Zfp423 APN 8 88,508,202 (GRCm39) missense probably damaging 1.00
IGL02320:Zfp423 APN 8 88,508,230 (GRCm39) missense probably damaging 1.00
IGL02804:Zfp423 APN 8 88,509,285 (GRCm39) missense probably benign 0.02
IGL03090:Zfp423 APN 8 88,508,071 (GRCm39) missense probably damaging 1.00
IGL03198:Zfp423 APN 8 88,508,304 (GRCm39) missense possibly damaging 0.73
IGL03383:Zfp423 APN 8 88,586,080 (GRCm39) nonsense probably null
swell UTSW 8 88,413,187 (GRCm39) splice site probably null
Temptation UTSW 8 88,508,381 (GRCm39) missense probably benign 0.25
trials UTSW 8 88,507,341 (GRCm39) missense probably damaging 1.00
R0110:Zfp423 UTSW 8 88,508,887 (GRCm39) missense possibly damaging 0.60
R0142:Zfp423 UTSW 8 88,506,968 (GRCm39) nonsense probably null
R0256:Zfp423 UTSW 8 88,500,262 (GRCm39) nonsense probably null
R0538:Zfp423 UTSW 8 88,508,713 (GRCm39) missense probably damaging 0.99
R0542:Zfp423 UTSW 8 88,507,237 (GRCm39) missense probably damaging 1.00
R0614:Zfp423 UTSW 8 88,508,742 (GRCm39) missense probably damaging 1.00
R1179:Zfp423 UTSW 8 88,414,700 (GRCm39) missense probably damaging 0.97
R1417:Zfp423 UTSW 8 88,500,284 (GRCm39) splice site probably null
R1429:Zfp423 UTSW 8 88,413,070 (GRCm39) missense probably damaging 0.99
R1570:Zfp423 UTSW 8 88,509,186 (GRCm39) missense probably benign 0.37
R2013:Zfp423 UTSW 8 88,509,025 (GRCm39) missense probably benign 0.43
R2043:Zfp423 UTSW 8 88,509,246 (GRCm39) missense probably damaging 1.00
R2064:Zfp423 UTSW 8 88,507,986 (GRCm39) missense probably benign 0.04
R2108:Zfp423 UTSW 8 88,507,806 (GRCm39) missense possibly damaging 0.73
R2358:Zfp423 UTSW 8 88,507,179 (GRCm39) missense possibly damaging 0.56
R3177:Zfp423 UTSW 8 88,508,959 (GRCm39) missense probably damaging 1.00
R3277:Zfp423 UTSW 8 88,508,959 (GRCm39) missense probably damaging 1.00
R3738:Zfp423 UTSW 8 88,507,972 (GRCm39) missense probably damaging 1.00
R3739:Zfp423 UTSW 8 88,507,972 (GRCm39) missense probably damaging 1.00
R3773:Zfp423 UTSW 8 88,507,140 (GRCm39) missense probably benign 0.03
R4034:Zfp423 UTSW 8 88,507,972 (GRCm39) missense probably damaging 1.00
R4425:Zfp423 UTSW 8 88,509,601 (GRCm39) missense probably damaging 1.00
R4611:Zfp423 UTSW 8 88,414,709 (GRCm39) missense possibly damaging 0.90
R4700:Zfp423 UTSW 8 88,508,338 (GRCm39) splice site probably null
R4753:Zfp423 UTSW 8 88,508,074 (GRCm39) missense probably benign 0.00
R4818:Zfp423 UTSW 8 88,631,128 (GRCm39) missense probably benign 0.00
R5026:Zfp423 UTSW 8 88,507,302 (GRCm39) missense probably damaging 1.00
R5190:Zfp423 UTSW 8 88,509,091 (GRCm39) missense probably damaging 1.00
R5243:Zfp423 UTSW 8 88,500,275 (GRCm39) missense probably benign 0.03
R5284:Zfp423 UTSW 8 88,508,305 (GRCm39) missense possibly damaging 0.73
R5586:Zfp423 UTSW 8 88,585,968 (GRCm39) missense possibly damaging 0.93
R5601:Zfp423 UTSW 8 88,508,637 (GRCm39) missense probably damaging 1.00
R5671:Zfp423 UTSW 8 88,508,955 (GRCm39) missense probably damaging 0.99
R5717:Zfp423 UTSW 8 88,413,187 (GRCm39) splice site probably null
R5801:Zfp423 UTSW 8 88,585,990 (GRCm39) missense probably damaging 0.99
R5917:Zfp423 UTSW 8 88,508,860 (GRCm39) nonsense probably null
R5985:Zfp423 UTSW 8 88,508,774 (GRCm39) missense possibly damaging 0.83
R6111:Zfp423 UTSW 8 88,509,315 (GRCm39) missense probably damaging 0.99
R6306:Zfp423 UTSW 8 88,508,662 (GRCm39) missense possibly damaging 0.64
R6770:Zfp423 UTSW 8 88,508,445 (GRCm39) missense probably damaging 0.99
R6970:Zfp423 UTSW 8 88,530,407 (GRCm39) missense probably benign 0.00
R7029:Zfp423 UTSW 8 88,414,694 (GRCm39) missense probably damaging 0.99
R7060:Zfp423 UTSW 8 88,509,507 (GRCm39) missense probably damaging 1.00
R7074:Zfp423 UTSW 8 88,509,060 (GRCm39) missense probably benign 0.00
R7121:Zfp423 UTSW 8 88,507,489 (GRCm39) missense probably damaging 1.00
R7242:Zfp423 UTSW 8 88,631,155 (GRCm39) missense probably benign 0.07
R7359:Zfp423 UTSW 8 88,508,871 (GRCm39) missense possibly damaging 0.52
R7426:Zfp423 UTSW 8 88,507,341 (GRCm39) missense probably damaging 1.00
R7540:Zfp423 UTSW 8 88,414,695 (GRCm39) missense possibly damaging 0.95
R7640:Zfp423 UTSW 8 88,507,905 (GRCm39) missense probably damaging 1.00
R7767:Zfp423 UTSW 8 88,507,512 (GRCm39) missense probably damaging 1.00
R7938:Zfp423 UTSW 8 88,622,304 (GRCm39) missense unknown
R7986:Zfp423 UTSW 8 88,506,978 (GRCm39) missense probably benign 0.04
R8347:Zfp423 UTSW 8 88,509,784 (GRCm39) missense probably damaging 0.99
R8356:Zfp423 UTSW 8 88,509,910 (GRCm39) missense probably damaging 1.00
R8676:Zfp423 UTSW 8 88,509,338 (GRCm39) missense probably benign 0.04
R8710:Zfp423 UTSW 8 88,507,549 (GRCm39) missense possibly damaging 0.74
R8794:Zfp423 UTSW 8 88,507,857 (GRCm39) missense probably damaging 1.00
R8832:Zfp423 UTSW 8 88,507,827 (GRCm39) missense probably damaging 0.98
R9018:Zfp423 UTSW 8 88,508,381 (GRCm39) missense probably benign 0.25
R9182:Zfp423 UTSW 8 88,508,742 (GRCm39) missense probably damaging 0.99
R9309:Zfp423 UTSW 8 88,509,688 (GRCm39) missense probably damaging 0.99
R9312:Zfp423 UTSW 8 88,508,569 (GRCm39) missense probably damaging 1.00
R9453:Zfp423 UTSW 8 88,508,251 (GRCm39) missense probably damaging 1.00
R9469:Zfp423 UTSW 8 88,509,519 (GRCm39) missense probably damaging 0.99
R9480:Zfp423 UTSW 8 88,631,115 (GRCm39) critical splice donor site probably null
R9483:Zfp423 UTSW 8 88,507,725 (GRCm39) missense possibly damaging 0.90
R9510:Zfp423 UTSW 8 88,510,041 (GRCm39) missense possibly damaging 0.94
R9521:Zfp423 UTSW 8 88,509,033 (GRCm39) missense probably damaging 1.00
R9606:Zfp423 UTSW 8 88,414,595 (GRCm39) missense probably damaging 0.99
R9789:Zfp423 UTSW 8 88,506,877 (GRCm39) missense probably benign 0.03
Z1176:Zfp423 UTSW 8 88,586,048 (GRCm39) missense possibly damaging 0.49
Z1177:Zfp423 UTSW 8 88,507,553 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07