Incidental Mutation 'R4425:Zfp423'
ID 328107
Institutional Source Beutler Lab
Gene Symbol Zfp423
Ensembl Gene ENSMUSG00000045333
Gene Name zinc finger protein 423
Synonyms Roaz, Zfp104, Ebfaz, ataxia1
MMRRC Submission 041144-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R4425 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 88388438-88686223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88509601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 123 (H123Y)
Ref Sequence ENSEMBL: ENSMUSP00000129724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052250] [ENSMUST00000109655] [ENSMUST00000165770] [ENSMUST00000174249] [ENSMUST00000174764]
AlphaFold Q80TS5
Predicted Effect probably damaging
Transcript: ENSMUST00000052250
AA Change: H227Y

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052379
Gene: ENSMUSG00000045333
AA Change: H227Y

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: H248Y

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105282
Gene: ENSMUSG00000045333
AA Change: H248Y

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: H123Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129724
Gene: ENSMUSG00000045333
AA Change: H123Y

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 0.6981 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,236,870 (GRCm39) T1456A probably damaging Het
Acad11 T C 9: 103,950,844 (GRCm39) F56S probably damaging Het
Adamts8 A G 9: 30,867,952 (GRCm39) N592S possibly damaging Het
Amh A G 10: 80,642,755 (GRCm39) D313G probably damaging Het
Ampd2 T C 3: 107,994,052 (GRCm39) probably benign Het
Arap3 A G 18: 38,111,653 (GRCm39) L1115P probably damaging Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cd163 T C 6: 124,304,862 (GRCm39) S1080P possibly damaging Het
Ceacam10 A T 7: 24,480,433 (GRCm39) Y68F possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfh A T 1: 140,028,613 (GRCm39) Y688* probably null Het
Chrnb1 A T 11: 69,677,773 (GRCm39) S326R probably damaging Het
Cngb1 C T 8: 96,026,344 (GRCm39) V25M probably damaging Het
Cyp2c50 A T 19: 40,079,136 (GRCm39) N160Y possibly damaging Het
Dalrd3 T C 9: 108,448,800 (GRCm39) probably benign Het
Eef1d C A 15: 75,774,648 (GRCm39) S253I possibly damaging Het
Efl1 G A 7: 82,412,491 (GRCm39) C960Y probably damaging Het
Elmo1 C G 13: 20,784,382 (GRCm39) Y646* probably null Het
Epb41l2 C A 10: 25,382,078 (GRCm39) D701E possibly damaging Het
Fbxl4 T A 4: 22,422,699 (GRCm39) probably null Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Igkv10-95 A T 6: 68,657,606 (GRCm39) I21F probably damaging Het
Il10rb C A 16: 91,204,603 (GRCm39) N51K possibly damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lrig3 T C 10: 125,849,273 (GRCm39) S998P probably benign Het
Lrrc8c T A 5: 105,755,755 (GRCm39) M510K probably benign Het
Nfrkb G T 9: 31,311,258 (GRCm39) C369F probably damaging Het
Nphp1 T C 2: 127,630,719 (GRCm39) E19G possibly damaging Het
Or10a5 A C 7: 106,635,698 (GRCm39) E112A probably damaging Het
Or4f14b T C 2: 111,775,534 (GRCm39) H89R probably benign Het
Ovol3 A T 7: 29,934,789 (GRCm39) probably null Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Rims2 T C 15: 39,301,320 (GRCm39) probably null Het
Sh3rf3 T C 10: 58,919,398 (GRCm39) V505A probably benign Het
Shkbp1 T C 7: 27,042,727 (GRCm39) N570S probably benign Het
Slc35f4 C T 14: 49,556,307 (GRCm39) V149I possibly damaging Het
Snx27 A G 3: 94,469,330 (GRCm39) F4L probably benign Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tagap1 G A 17: 7,223,511 (GRCm39) S395L probably benign Het
Tcstv2b C A 13: 120,373,908 (GRCm39) L127F probably damaging Het
Tek A G 4: 94,751,904 (GRCm39) T1014A probably damaging Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpo T C 12: 30,154,015 (GRCm39) Y230C probably damaging Het
Trav12-2 A G 14: 53,854,332 (GRCm39) Q102R possibly damaging Het
Ttn G A 2: 76,733,430 (GRCm39) probably benign Het
Vmn1r183 A T 7: 23,754,973 (GRCm39) I259F probably benign Het
Vmn1r228 T C 17: 20,996,861 (GRCm39) E219G probably damaging Het
Vsig8 G T 1: 172,390,714 (GRCm39) G254V probably damaging Het
Vwa8 A G 14: 79,320,246 (GRCm39) I1086V probably benign Het
Zfp811 A T 17: 33,016,521 (GRCm39) C506* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGCACTGTAGATCCGCCTTC -3'
(R):5'- CCGTTCAAGTGCACCTTCTG -3'

Sequencing Primer
(F):5'- GTAGATCCGCCTTCTCTGAGAG -3'
(R):5'- TCTTCAAACACAAGAGGAGCCGAG -3'
Posted On 2015-07-07