Incidental Mutation 'R0885:Zfp593'
ID 81140
Institutional Source Beutler Lab
Gene Symbol Zfp593
Ensembl Gene ENSMUSG00000028840
Gene Name zinc finger protein 593
Synonyms E130106C14Rik, 3110024A21Rik
MMRRC Submission 039052-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R0885 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 133970617-133972902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133972224 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 94 (V94A)
Ref Sequence ENSEMBL: ENSMUSP00000030644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030644] [ENSMUST00000122952] [ENSMUST00000124452] [ENSMUST00000125921] [ENSMUST00000131447] [ENSMUST00000143448] [ENSMUST00000144222] [ENSMUST00000135228] [ENSMUST00000205501]
AlphaFold Q9DB42
Predicted Effect probably benign
Transcript: ENSMUST00000030644
AA Change: V94A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030644
Gene: ENSMUSG00000028840
AA Change: V94A

DomainStartEndE-ValueType
low complexity region 40 60 N/A INTRINSIC
ZnF_C2H2 61 85 6.4e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122952
Predicted Effect probably benign
Transcript: ENSMUST00000124452
Predicted Effect probably benign
Transcript: ENSMUST00000125921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129183
Predicted Effect probably benign
Transcript: ENSMUST00000131447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134320
Predicted Effect probably benign
Transcript: ENSMUST00000143448
Predicted Effect probably benign
Transcript: ENSMUST00000144222
Predicted Effect probably benign
Transcript: ENSMUST00000135228
Predicted Effect probably benign
Transcript: ENSMUST00000205501
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L13Rik T A 7: 29,980,094 (GRCm39) Y46* probably null Het
Adam18 T C 8: 25,141,802 (GRCm39) K256E probably damaging Het
Adam20 T A 8: 41,249,595 (GRCm39) H568Q probably benign Het
Ambp A G 4: 63,069,705 (GRCm39) L107P probably damaging Het
Art1 T C 7: 101,756,541 (GRCm39) F244S probably damaging Het
Asxl2 C A 12: 3,551,458 (GRCm39) L1067I probably damaging Het
Atm T C 9: 53,371,123 (GRCm39) T2242A probably benign Het
Atp2c1 C T 9: 105,298,772 (GRCm39) probably null Het
Bptf A G 11: 106,934,617 (GRCm39) Y2819H probably damaging Het
Caskin1 G A 17: 24,724,668 (GRCm39) R1152H probably damaging Het
Chd7 T A 4: 8,866,432 (GRCm39) L868Q probably damaging Het
Cyp2d40 T C 15: 82,645,116 (GRCm39) E178G unknown Het
Dclk1 G T 3: 55,394,728 (GRCm39) R103S probably damaging Het
Des A G 1: 75,337,374 (GRCm39) T105A probably damaging Het
Ebf3 T C 7: 136,827,613 (GRCm39) T262A probably benign Het
Epha4 A G 1: 77,359,576 (GRCm39) V759A probably damaging Het
Fryl A T 5: 73,246,539 (GRCm39) F1078I probably damaging Het
Il20 T C 1: 130,838,518 (GRCm39) I60V probably benign Het
Kif3c A T 12: 3,415,981 (GRCm39) M1L probably benign Het
Lhfpl5 A T 17: 28,795,011 (GRCm39) I13F probably damaging Het
Lin28b C T 10: 45,257,324 (GRCm39) G218E probably damaging Het
Lrp2 A T 2: 69,312,697 (GRCm39) N2530K possibly damaging Het
Matn2 T A 15: 34,316,751 (GRCm39) F31Y possibly damaging Het
Mcm6 T C 1: 128,276,670 (GRCm39) N307D probably benign Het
Mmp16 A T 4: 18,054,491 (GRCm39) R332S probably benign Het
Mpdz T A 4: 81,287,829 (GRCm39) T477S probably benign Het
Mrgprb3 C A 7: 48,292,844 (GRCm39) G236W probably damaging Het
Mrpl47 T C 3: 32,784,335 (GRCm39) D145G probably damaging Het
Myo6 T C 9: 80,149,503 (GRCm39) S150P probably damaging Het
Naca C A 10: 127,876,048 (GRCm39) S360* probably null Het
Or2ak6 C T 11: 58,592,913 (GRCm39) P129S possibly damaging Het
Phip C A 9: 82,757,448 (GRCm39) A1575S probably benign Het
Pip4p1 T C 14: 51,167,763 (GRCm39) E54G probably damaging Het
Plxna2 T C 1: 194,326,864 (GRCm39) M266T probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prag1 T C 8: 36,570,421 (GRCm39) F335L probably benign Het
Prmt2 A G 10: 76,058,399 (GRCm39) Y137H probably damaging Het
Psme3ip1 C A 8: 95,302,407 (GRCm39) C208F probably damaging Het
Ptgds T C 2: 25,357,357 (GRCm39) D184G possibly damaging Het
Ptpn5 T C 7: 46,738,359 (GRCm39) Y241C probably benign Het
Pxdn G A 12: 30,053,401 (GRCm39) V1193M probably benign Het
Raet1e T A 10: 22,057,986 (GRCm39) probably benign Het
Rttn A G 18: 89,001,934 (GRCm39) D282G probably benign Het
Sis G A 3: 72,819,282 (GRCm39) R1425* probably null Het
Slco2a1 G T 9: 102,959,582 (GRCm39) M559I probably damaging Het
Spata4 C T 8: 55,053,879 (GRCm39) A15V probably damaging Het
Spop T C 11: 95,361,453 (GRCm39) S14P probably benign Het
Tcof1 A T 18: 60,968,922 (GRCm39) D230E possibly damaging Het
Tubgcp5 T A 7: 55,455,803 (GRCm39) L277* probably null Het
Ubxn10 A T 4: 138,447,881 (GRCm39) V265E probably damaging Het
Ugt2b36 T A 5: 87,239,848 (GRCm39) Y179F probably benign Het
Wdr37 A C 13: 8,885,288 (GRCm39) probably null Het
Other mutations in Zfp593
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Zfp593 APN 4 133,972,355 (GRCm39) missense probably damaging 1.00
R1818:Zfp593 UTSW 4 133,972,394 (GRCm39) splice site probably null
R1986:Zfp593 UTSW 4 133,972,206 (GRCm39) missense possibly damaging 0.94
R2570:Zfp593 UTSW 4 133,972,869 (GRCm39) unclassified probably benign
R4349:Zfp593 UTSW 4 133,972,367 (GRCm39) missense probably benign 0.25
R4740:Zfp593 UTSW 4 133,972,077 (GRCm39) unclassified probably benign
R5393:Zfp593 UTSW 4 133,972,615 (GRCm39) missense probably benign 0.00
R6323:Zfp593 UTSW 4 133,972,224 (GRCm39) missense probably benign 0.11
Z1088:Zfp593 UTSW 4 133,972,753 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGAGTAGACATCTTGGCCCAGAAAC -3'
(R):5'- TCATCGATTCAGCCAACCTGAAGAC -3'

Sequencing Primer
(F):5'- AGCTTGGCTGATGAACCAC -3'
(R):5'- TGAAGACCCATTTCCGATCC -3'
Posted On 2013-11-07