Incidental Mutation 'IGL01745:Zfp593'
ID152996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp593
Ensembl Gene ENSMUSG00000028840
Gene Namezinc finger protein 593
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.234) question?
Stock #IGL01745
Quality Score
Status
Chromosome4
Chromosomal Location134243289-134245592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134245044 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 82 (S82P)
Ref Sequence ENSEMBL: ENSMUSP00000030644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030644] [ENSMUST00000122952] [ENSMUST00000124452] [ENSMUST00000125921] [ENSMUST00000131447] [ENSMUST00000135228] [ENSMUST00000143448] [ENSMUST00000144222] [ENSMUST00000205501]
Predicted Effect probably damaging
Transcript: ENSMUST00000030644
AA Change: S82P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030644
Gene: ENSMUSG00000028840
AA Change: S82P

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: ENSMUST00000135228
Predicted Effect probably benign
Transcript: ENSMUST00000143448
Predicted Effect probably benign
Transcript: ENSMUST00000144222
Predicted Effect probably benign
Transcript: ENSMUST00000205501
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700125H20Rik A G 11: 85,172,870 T30A probably benign Het
Ccdc153 T G 9: 44,243,111 S56R possibly damaging Het
D630045J12Rik T C 6: 38,191,720 K965E probably damaging Het
F2rl1 A G 13: 95,513,753 V207A probably benign Het
Matn4 A G 2: 164,400,743 V145A probably damaging Het
Mllt6 T G 11: 97,676,928 L757R probably damaging Het
Olfr1033 T A 2: 86,042,037 S241T possibly damaging Het
Olfr154 T C 2: 85,663,577 N286D possibly damaging Het
Olfr520 A G 7: 99,735,388 T82A probably damaging Het
Prrc2c A G 1: 162,724,728 S30P probably damaging Het
Setd2 T C 9: 110,594,711 V2278A probably damaging Het
Slco4a1 G A 2: 180,464,679 C218Y probably damaging Het
Vps35 A T 8: 85,273,463 probably benign Het
Other mutations in Zfp593
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0885:Zfp593 UTSW 4 134244913 missense probably benign 0.11
R1818:Zfp593 UTSW 4 134245083 unclassified probably null
R1986:Zfp593 UTSW 4 134244895 missense possibly damaging 0.94
R2570:Zfp593 UTSW 4 134245558 unclassified probably benign
R4349:Zfp593 UTSW 4 134245056 missense probably benign 0.25
R4740:Zfp593 UTSW 4 134244766 unclassified probably benign
R5393:Zfp593 UTSW 4 134245304 missense probably benign 0.00
R6323:Zfp593 UTSW 4 134244913 missense probably benign 0.11
Z1088:Zfp593 UTSW 4 134245442 missense probably benign 0.00
Posted On2014-02-04