Incidental Mutation 'IGL02488:Zfp385a'
ID295512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp385a
Ensembl Gene ENSMUSG00000000552
Gene Namezinc finger protein 385A
SynonymsZfp385, Hzf
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.222) question?
Stock #IGL02488
Quality Score
Status
Chromosome15
Chromosomal Location103313895-103340093 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103320306 bp
ZygosityHeterozygous
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]
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: 24,792,006 D417N probably damaging Het
Akr1d1 A T 6: 37,567,160 E324D probably benign Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Cct6a T G 5: 129,789,821 probably benign Het
Enpp7 C A 11: 118,988,814 T98N probably damaging Het
Fcna A T 2: 25,625,211 probably null Het
Gtdc1 A G 2: 44,825,439 Y31H probably benign Het
Gzme A T 14: 56,118,392 N154K probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Mpdu1 T C 11: 69,658,609 T87A probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Olfr648 T A 7: 104,180,271 I46F possibly damaging Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Trav6-2 A G 14: 52,667,786 K88R probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Vmn1r46 T A 6: 89,976,981 C271S probably benign Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Other mutations in Zfp385a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1145:Zfp385a UTSW 15 103317943 splice site probably benign
R1772:Zfp385a UTSW 15 103315881 critical splice donor site probably null
R5677:Zfp385a UTSW 15 103318065 missense probably damaging 1.00
Z1177:Zfp385a UTSW 15 103315984 missense probably damaging 1.00
Posted On2015-04-16