Incidental Mutation 'R7242:Zfp423'
ID 563295
Institutional Source Beutler Lab
Gene Symbol Zfp423
Ensembl Gene ENSMUSG00000045333
Gene Name zinc finger protein 423
Synonyms Roaz, Zfp104, Ebfaz, ataxia1
MMRRC Submission 045349-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.838) question?
Stock # R7242 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 88388438-88686223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88631155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 21 (D21G)
Ref Sequence ENSEMBL: ENSMUSP00000105282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109655] [ENSMUST00000174764]
AlphaFold Q80TS5
Predicted Effect probably benign
Transcript: ENSMUST00000109655
AA Change: D21G

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000105282
Gene: ENSMUSG00000045333
AA Change: D21G

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 benign
Transcript: ENSMUST00000174764
AA Change: D24G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134575
Gene: ENSMUSG00000045333
AA Change: D24G

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 0.0983 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Abca6 A T 11: 110,132,479 (GRCm39) V272D possibly damaging Het
Acot11 A T 4: 106,619,690 (GRCm39) S163R probably benign Het
Adcy5 T C 16: 34,977,205 (GRCm39) L246P probably damaging Het
Adgra1 A T 7: 139,427,573 (GRCm39) probably null Het
Adgra2 A G 8: 27,612,055 (GRCm39) T1335A probably damaging Het
Aoc1l2 A T 6: 48,908,062 (GRCm39) Y354F probably damaging Het
Armt1 T C 10: 4,403,475 (GRCm39) S187P probably damaging Het
Azin1 T C 15: 38,501,749 (GRCm39) M1V probably null Het
B430305J03Rik C T 3: 61,271,256 (GRCm39) C163Y unknown Het
Cables1 T C 18: 11,973,064 (GRCm39) S68P possibly damaging Het
Cacna1d A G 14: 29,900,663 (GRCm39) F341L probably benign Het
Ccdc90b T A 7: 92,221,776 (GRCm39) H118Q probably damaging Het
Ccn5 T C 2: 163,670,772 (GRCm39) F93S probably benign Het
Celf1 T A 2: 90,833,602 (GRCm39) C119* probably null Het
Cfap57 C T 4: 118,450,293 (GRCm39) V610M possibly damaging Het
Chrm4 T A 2: 91,757,595 (GRCm39) M1K probably null Het
Chrnd C T 1: 87,125,201 (GRCm39) T418I probably damaging Het
Coch G T 12: 51,640,344 (GRCm39) probably benign Het
Cop1 A G 1: 159,112,118 (GRCm39) T345A probably benign Het
Cops6 A G 5: 138,161,842 (GRCm39) T96A probably benign Het
Corin T C 5: 72,462,398 (GRCm39) I945V probably benign Het
Cyp2c67 G T 19: 39,605,783 (GRCm39) T371N probably benign Het
Dap T A 15: 31,273,454 (GRCm39) *103R probably null Het
Defb35 T A 8: 22,430,773 (GRCm39) V49E unknown Het
Dmtf1 T A 5: 9,199,016 (GRCm39) D39V possibly damaging Het
Dmtn T C 14: 70,855,460 (GRCm39) T10A probably damaging Het
Dnajc1 C T 2: 18,298,783 (GRCm39) E264K probably benign Het
Dtx3l A T 16: 35,753,771 (GRCm39) N278K possibly damaging Het
Fam161a T A 11: 22,970,037 (GRCm39) S72T possibly damaging Het
Fnbp4 T A 2: 90,576,140 (GRCm39) S114T unknown Het
Focad T G 4: 88,228,143 (GRCm39) I784S unknown Het
Fzd8 A T 18: 9,214,171 (GRCm39) T418S probably damaging Het
Gclc A G 9: 77,692,653 (GRCm39) Y264C probably benign Het
Ggn G A 7: 28,872,459 (GRCm39) C649Y possibly damaging Het
Gys1 A G 7: 45,089,092 (GRCm39) probably null Het
Hsd3b1 T C 3: 98,760,526 (GRCm39) Y155C probably damaging Het
Htatip2 A G 7: 49,422,354 (GRCm39) K191E probably benign Het
Ik A T 18: 36,881,275 (GRCm39) S79C probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Kpna2rt G A 17: 90,217,563 (GRCm39) T61I probably benign Het
Mast4 A G 13: 102,874,986 (GRCm39) S1461P probably damaging Het
Melk T A 4: 44,360,885 (GRCm39) V555E probably damaging Het
Met G A 6: 17,491,316 (GRCm39) C26Y probably damaging Het
Mfsd6 A T 1: 52,748,633 (GRCm39) F77L probably damaging Het
Mib1 T A 18: 10,741,011 (GRCm39) D86E probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or12e8 G A 2: 87,188,426 (GRCm39) V213I probably benign Het
Or56b1b T G 7: 108,164,919 (GRCm39) S28R probably benign Het
Or7a36 A T 10: 78,820,331 (GRCm39) K236* probably null Het
Or8g21 A G 9: 38,906,437 (GRCm39) I98T probably benign Het
Patj A T 4: 98,480,170 (GRCm39) I1296L probably benign Het
Pcdh1 C T 18: 38,336,270 (GRCm39) V122M probably benign Het
Pcdhac2 A T 18: 37,277,946 (GRCm39) I309F possibly damaging Het
Phf8-ps A G 17: 33,286,101 (GRCm39) Y234H probably damaging Het
Phtf1 A G 3: 103,906,012 (GRCm39) S565G probably damaging Het
Plekha2 A C 8: 25,578,411 (GRCm39) F30V probably damaging Het
Ptbp1 A G 10: 79,692,222 (GRCm39) M20V unknown Het
Pth2r A G 1: 65,427,779 (GRCm39) D484G probably benign Het
Rapgef2 G A 3: 78,995,210 (GRCm39) Q665* probably null Het
Scamp1 G A 13: 94,369,648 (GRCm39) T59I probably benign Het
Sema4a T A 3: 88,357,416 (GRCm39) D230V probably damaging Het
Snw1 C T 12: 87,515,415 (GRCm39) G45R possibly damaging Het
Sox30 T A 11: 45,875,347 (GRCm39) probably null Het
Sspo T A 6: 48,450,886 (GRCm39) I2665K probably benign Het
Stx5a T A 19: 8,732,641 (GRCm39) W437R unknown Het
Tln1 A G 4: 43,542,602 (GRCm39) V1402A probably benign Het
Tpm1 A G 9: 66,935,383 (GRCm39) L244P probably benign Het
Try5 T A 6: 41,290,388 (GRCm39) E32V probably benign Het
Ttn T C 2: 76,552,073 (GRCm39) N31188S probably benign Het
Tulp1 T C 17: 28,582,379 (GRCm39) probably null Het
Usp13 T G 3: 32,919,892 (GRCm39) probably null Het
Vax2 A G 6: 83,688,298 (GRCm39) E7G possibly damaging Het
Vmn2r45 A T 7: 8,488,612 (GRCm39) Y139* 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
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
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'- TCCATATGGAATGAGTTTTACTGGC -3'
(R):5'- AAATTTGTAGGTTTTGTGCCCC -3'

Sequencing Primer
(F):5'- GAGTTTTACTGGCCATATGGAATAG -3'
(R):5'- GACCTGTGTCTTACCCCAT -3'
Posted On 2019-06-26