Incidental Mutation 'R6323:Zfp593'
ID 510192
Institutional Source Beutler Lab
Gene Symbol Zfp593
Ensembl Gene ENSMUSG00000028840
Gene Name zinc finger protein 593
Synonyms E130106C14Rik, 3110024A21Rik
MMRRC Submission 044477-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R6323 (G1)
Quality Score 225.009
Status 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,436,568 (GRCm39) T171A unknown Het
Akr1c6 A G 13: 4,497,017 (GRCm39) K153R possibly damaging Het
Ano1 T A 7: 144,165,423 (GRCm39) I601F possibly damaging Het
Arfgef2 A G 2: 166,676,404 (GRCm39) Y8C probably damaging Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz2a A G 10: 127,962,286 (GRCm39) I1816V probably benign Het
Cadps2 T A 6: 23,263,577 (GRCm39) T1294S probably benign Het
Casz1 T C 4: 149,026,161 (GRCm39) S952P possibly damaging Het
Cdc20 T C 4: 118,292,761 (GRCm39) N329S probably damaging Het
Ceacam1 A C 7: 25,174,076 (GRCm39) L193R probably damaging Het
Celf5 A G 10: 81,305,337 (GRCm39) S143P probably damaging Het
Cfap74 A G 4: 155,548,395 (GRCm39) D1342G possibly damaging Het
Chd5 C A 4: 152,451,791 (GRCm39) T701K probably damaging Het
Cpt1b C A 15: 89,303,266 (GRCm39) M596I probably benign Het
Ctrb1 A G 8: 112,416,223 (GRCm39) V21A probably benign Het
Diaph3 C T 14: 87,203,889 (GRCm39) V579I probably benign Het
Dlc1 T C 8: 37,405,537 (GRCm39) E84G possibly damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Galns T C 8: 123,325,390 (GRCm39) D254G probably damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Gstm1 A G 3: 107,925,063 (GRCm39) V10A probably benign Het
Krt13 C A 11: 100,011,976 (GRCm39) A116S probably damaging Het
Lars2 A T 9: 123,270,659 (GRCm39) K584* probably null Het
Lrrc43 G T 5: 123,641,949 (GRCm39) G600W probably damaging Het
Madd G T 2: 90,991,783 (GRCm39) probably null Het
Mnat1 A G 12: 73,214,878 (GRCm39) D65G probably damaging Het
Nsmf A G 2: 24,945,063 (GRCm39) N42S possibly damaging Het
Or4k77 T C 2: 111,199,046 (GRCm39) L23P possibly damaging Het
Or5ac16 A G 16: 59,022,645 (GRCm39) L48P probably damaging Het
Palld A T 8: 62,173,727 (GRCm39) W311R probably damaging Het
Pax1 T A 2: 147,210,321 (GRCm39) V352E probably damaging Het
Rnf2 T C 1: 151,348,967 (GRCm39) K51R probably damaging Het
Rpl7l1 C A 17: 47,093,564 (GRCm39) probably benign Het
Slc1a6 G A 10: 78,648,721 (GRCm39) G481S probably damaging Het
Slc34a1 A G 13: 23,998,969 (GRCm39) I121V probably benign Het
Spata31h1 G A 10: 82,118,916 (GRCm39) T4698I probably benign Het
Trav6-1 T C 14: 52,876,248 (GRCm39) V56A possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r79 T A 7: 86,650,522 (GRCm39) C103S probably benign Het
Wwp2 A T 8: 108,267,303 (GRCm39) H305L probably damaging Het
Other mutations in Zfp593
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Zfp593 APN 4 133,972,355 (GRCm39) missense probably damaging 1.00
R0885:Zfp593 UTSW 4 133,972,224 (GRCm39) missense probably benign 0.11
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
Z1088:Zfp593 UTSW 4 133,972,753 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTGGCTGATGAACCACTGC -3'
(R):5'- ATGTCTGGGAACGAGCTAGG -3'

Sequencing Primer
(F):5'- TGATGAACCACTGCCCATGG -3'
(R):5'- CTACATTCCTGCAGGAGGTAC -3'
Posted On 2018-04-02