Incidental Mutation 'R6111:Zfp423'
ID 484845
Institutional Source Beutler Lab
Gene Symbol Zfp423
Ensembl Gene ENSMUSG00000045333
Gene Name zinc finger protein 423
Synonyms Roaz, Zfp104, Ebfaz, ataxia1
MMRRC Submission 044260-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R6111 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 88388438-88686223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88509315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 322 (V322A)
Ref Sequence ENSEMBL: ENSMUSP00000052379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052250] [ENSMUST00000109655] [ENSMUST00000165770] [ENSMUST00000174249] [ENSMUST00000174764]
AlphaFold Q80TS5
Predicted Effect probably damaging
Transcript: ENSMUST00000052250
AA Change: V322A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052379
Gene: ENSMUSG00000045333
AA Change: V322A

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: V343A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105282
Gene: ENSMUSG00000045333
AA Change: V343A

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: V218A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129724
Gene: ENSMUSG00000045333
AA Change: V218A

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 benign
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 benign
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
Meta Mutation Damage Score 0.2219 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,476,021 (GRCm39) E1110G possibly damaging Het
Abcd4 G A 12: 84,661,888 (GRCm39) T79I probably damaging Het
Acd A G 8: 106,424,919 (GRCm39) M407T probably benign Het
Adcy2 T A 13: 68,877,360 (GRCm39) H460L probably damaging Het
Atad2 G A 15: 57,971,487 (GRCm39) H752Y probably benign Het
Bmal2 T C 6: 146,722,097 (GRCm39) F223L probably benign Het
Camsap2 A G 1: 136,209,036 (GRCm39) S819P probably benign Het
Col24a1 C A 3: 145,019,815 (GRCm39) T62K probably damaging Het
Cpne6 G A 14: 55,752,091 (GRCm39) V283M probably benign Het
D630003M21Rik A G 2: 158,055,368 (GRCm39) S590P probably damaging Het
Daam1 T A 12: 71,989,038 (GRCm39) M146K unknown Het
Dclk2 A G 3: 86,712,968 (GRCm39) Y495H probably benign Het
Ddx4 A T 13: 112,757,766 (GRCm39) C330* probably null Het
Dlec1 T C 9: 118,931,692 (GRCm39) L37P possibly damaging Het
Dock2 G A 11: 34,599,614 (GRCm39) P322S probably damaging Het
Espl1 A G 15: 102,208,323 (GRCm39) E443G probably damaging Het
Eya4 T A 10: 23,015,953 (GRCm39) D338V possibly damaging Het
Fcmr A G 1: 130,805,566 (GRCm39) I267V probably damaging Het
Gfra3 T A 18: 34,823,927 (GRCm39) H349L probably damaging Het
Gm25747 A G 12: 113,392,703 (GRCm39) probably benign Het
Gria4 G A 9: 4,502,430 (GRCm39) R368C probably damaging Het
H2-Q5 A T 17: 35,613,885 (GRCm39) I145F possibly damaging Het
Hace1 A T 10: 45,465,606 (GRCm39) K54I possibly damaging Het
Ift122 T A 6: 115,852,247 (GRCm39) I79N probably damaging Het
Ino80b A G 6: 83,101,347 (GRCm39) V121A probably damaging Het
Kcnq1 A G 7: 142,661,474 (GRCm39) T63A probably benign Het
Map4k4 C A 1: 40,050,822 (GRCm39) Q762K probably benign Het
Mios G A 6: 8,214,836 (GRCm39) A11T probably benign Het
Nfatc1 A G 18: 80,741,125 (GRCm39) S278P probably damaging Het
Notch2 T C 3: 98,053,609 (GRCm39) S2091P probably benign Het
Nudt19 T A 7: 35,254,952 (GRCm39) D93V probably benign Het
Or8b12b T C 9: 37,684,228 (GRCm39) I91T probably damaging Het
Osbpl2 A G 2: 179,791,994 (GRCm39) T233A probably benign Het
P3h1 C T 4: 119,098,329 (GRCm39) R369* probably null Het
Pcdhb3 A T 18: 37,435,242 (GRCm39) I403L probably benign Het
Pigo T C 4: 43,019,724 (GRCm39) D935G probably benign Het
Plpp1 A G 13: 113,003,451 (GRCm39) H224R probably damaging Het
Rai1 T A 11: 60,078,732 (GRCm39) M932K probably damaging Het
Rexo2 A T 9: 48,384,412 (GRCm39) F122L probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sdc3 A G 4: 130,546,153 (GRCm39) T77A unknown Het
Skint5 T C 4: 113,562,845 (GRCm39) T786A unknown Het
Smok3c C A 5: 138,063,365 (GRCm39) P284Q probably damaging Het
Spg11 A G 2: 121,923,963 (GRCm39) V786A probably damaging Het
Tmem273 T C 14: 32,528,755 (GRCm39) I40T possibly damaging Het
Tnfrsf10b T A 14: 70,020,007 (GRCm39) C380S possibly damaging Het
Tsen54 T C 11: 115,710,956 (GRCm39) V176A possibly damaging Het
Ttll4 A T 1: 74,736,698 (GRCm39) K1141M possibly damaging Het
Ttpa A T 4: 20,014,772 (GRCm39) I116F probably damaging Het
Tubgcp6 T C 15: 88,985,123 (GRCm39) D1655G possibly damaging Het
Usp38 A G 8: 81,740,551 (GRCm39) V172A probably damaging Het
Vmn2r73 A G 7: 85,520,997 (GRCm39) S324P probably benign Het
Wdr72 T C 9: 74,117,607 (GRCm39) M773T probably benign Het
Xirp2 T A 2: 67,342,161 (GRCm39) H1467Q possibly damaging Het
Zdhhc8 G T 16: 18,042,762 (GRCm39) S479R probably damaging Het
Zfp87 T G 13: 74,520,504 (GRCm39) E191D probably benign Het
Zfp933 T C 4: 147,913,217 (GRCm39) T14A probably damaging Het
Other mutations in Zfp423
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Zfp423 APN 8 88,508,239 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- CAATAGGGGCAGCTGTAGAC -3'
(R):5'- TCATGTGCGACTACTGCGAG -3'

Sequencing Primer
(F):5'- AGCTGTAGACGACCTTGGG -3'
(R):5'- ACTGCGAGGATACCTTTAGC -3'
Posted On 2017-08-16