Incidental Mutation 'IGL02488:Zfp385a'
ID 295512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp385a
Ensembl Gene ENSMUSG00000000552
Gene Name zinc finger protein 385A
Synonyms Hzf, Zfp385
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # IGL02488
Quality Score
Status
Chromosome 15
Chromosomal Location 103222322-103248520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103228733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 42 (I42T)
Ref Sequence ENSEMBL: ENSMUSP00000155501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168828] [ENSMUST00000229373] [ENSMUST00000229551]
AlphaFold Q8VD12
Predicted Effect probably damaging
Transcript: ENSMUST00000168828
AA Change: I81T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130176
Gene: ENSMUSG00000000552
AA Change: I81T

DomainStartEndE-ValueType
ZnF_U1 71 105 1.05e-2 SMART
ZnF_C2H2 74 98 1.14e0 SMART
low complexity region 157 173 N/A INTRINSIC
ZnF_U1 198 232 2.29e-3 SMART
ZnF_C2H2 201 225 1.91e1 SMART
low complexity region 245 256 N/A INTRINSIC
ZnF_U1 258 292 5.26e-3 SMART
ZnF_C2H2 261 285 2.17e-1 SMART
low complexity region 319 361 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000229373
AA Change: I61T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000229551
AA Change: I42T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008]
PHENOTYPE: Homozygous null mice display partial postnatal lethality with gastrointestinal and intracranial hemorrhages, abnormal megakaryocyte development, and reduced body size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Other mutations in Zfp385a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1145:Zfp385a UTSW 15 103,226,370 (GRCm39) splice site probably benign
R1772:Zfp385a UTSW 15 103,224,308 (GRCm39) critical splice donor site probably null
R5677:Zfp385a UTSW 15 103,226,492 (GRCm39) missense probably damaging 1.00
R9087:Zfp385a UTSW 15 103,224,318 (GRCm39) missense possibly damaging 0.72
R9586:Zfp385a UTSW 15 103,241,580 (GRCm39) missense probably damaging 0.99
Z1177:Zfp385a UTSW 15 103,224,411 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16