Incidental Mutation 'IGL02125:Zfp592'
ID280821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp592
Ensembl Gene ENSMUSG00000005621
Gene Namezinc finger protein 592
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.928) question?
Stock #IGL02125
Quality Score
Status
Chromosome7
Chromosomal Location80993681-81045164 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 81038184 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 953 (A953S)
Ref Sequence ENSEMBL: ENSMUSP00000102976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107353]
Predicted Effect probably benign
Transcript: ENSMUST00000107353
AA Change: A953S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: A953S

DomainStartEndE-ValueType
low complexity region 170 180 N/A INTRINSIC
low complexity region 200 211 N/A INTRINSIC
low complexity region 314 333 N/A INTRINSIC
low complexity region 343 369 N/A INTRINSIC
low complexity region 484 500 N/A INTRINSIC
low complexity region 514 525 N/A INTRINSIC
ZnF_C2H2 587 612 8.98e0 SMART
ZnF_C2H2 615 639 2.61e1 SMART
low complexity region 664 686 N/A INTRINSIC
ZnF_C2H2 711 731 1.24e2 SMART
ZnF_C2H2 740 762 2.82e0 SMART
ZnF_C2H2 768 792 4.99e1 SMART
ZnF_C2H2 799 822 1.73e0 SMART
ZnF_C2H2 827 850 7.89e0 SMART
ZnF_C2H2 892 915 3.89e-3 SMART
low complexity region 924 935 N/A INTRINSIC
low complexity region 965 979 N/A INTRINSIC
ZnF_C2H2 983 1006 4.11e-2 SMART
ZnF_C2H2 1013 1036 7.37e-4 SMART
ZnF_C2H2 1043 1069 7.68e0 SMART
ZnF_C2H2 1124 1146 1.51e0 SMART
ZnF_C2H2 1153 1176 1.23e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149508
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik T C 5: 5,450,644 *151W probably null Het
Adam29 A T 8: 55,871,939 C493* probably null Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd12 A G 17: 65,970,144 probably benign Het
Anxa5 G A 3: 36,452,264 T213I probably damaging Het
Baz2b A G 2: 59,968,640 L380S probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cacna2d2 C T 9: 107,513,904 Q411* probably null Het
Cdh19 A G 1: 110,929,884 V240A possibly damaging Het
Cltc A T 11: 86,704,810 probably benign Het
Dclk3 T A 9: 111,469,107 V573E probably damaging Het
Dhx29 T C 13: 112,955,300 probably benign Het
Dip2b T C 15: 100,186,250 L918P possibly damaging Het
Dzip3 A T 16: 48,927,596 N1150K probably damaging Het
Fgf5 T C 5: 98,254,532 S41P possibly damaging Het
Galc A T 12: 98,231,509 Y120N probably damaging Het
Gldc T C 19: 30,147,241 N219S probably benign Het
Gm11563 A T 11: 99,658,805 V41E unknown Het
Gm597 T C 1: 28,776,338 N871S possibly damaging Het
Gpatch11 T A 17: 78,840,109 N106K probably benign Het
Gpx3 A G 11: 54,907,242 N68S probably damaging Het
Ibtk T C 9: 85,735,070 N150D probably damaging Het
Iglc2 G A 16: 19,198,712 P48S probably benign Het
Itih5 G A 2: 10,240,987 R629H probably benign Het
Kank1 T A 19: 25,410,703 V552E possibly damaging Het
Kmt2a T A 9: 44,848,686 H655L probably damaging Het
Mkl2 A G 16: 13,400,183 probably null Het
Mme A T 3: 63,348,649 N510I probably damaging Het
Obscn A G 11: 59,022,362 I6943T probably damaging Het
Obscn G T 11: 59,093,326 Q1768K possibly damaging Het
Olfr209 T C 16: 59,361,516 N234S probably benign Het
Olfr633 T A 7: 103,947,072 C169S probably damaging Het
Otud3 A T 4: 138,896,714 probably null Het
Parp4 A G 14: 56,590,502 K237E probably benign Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Rbbp6 T C 7: 122,971,129 probably null Het
Rdh16 G T 10: 127,811,319 probably benign Het
Ropn1 A G 16: 34,666,777 T28A probably benign Het
Sec24d T C 3: 123,358,958 V873A probably damaging Het
Serpinb3b T A 1: 107,154,744 L263F probably damaging Het
Shq1 T C 6: 100,631,006 T315A probably benign Het
Slc13a4 T C 6: 35,278,288 E355G probably benign Het
Slc26a9 T C 1: 131,759,437 S445P probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc4a10 A T 2: 62,268,171 M550L probably benign Het
Syt17 T C 7: 118,409,974 D341G probably benign Het
Tmem62 A G 2: 120,996,512 Y430C probably benign Het
Upp1 A G 11: 9,125,650 probably benign Het
Vmn1r91 T G 7: 20,101,504 V116G probably damaging Het
Vmn2r101 A T 17: 19,589,701 I250F possibly damaging Het
Vmn2r116 T G 17: 23,397,627 probably benign Het
Vmn2r72 C T 7: 85,750,711 V377I probably benign Het
Other mutations in Zfp592
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Zfp592 APN 7 81041548 nonsense probably null
IGL01984:Zfp592 APN 7 81038644 missense probably benign 0.00
IGL02079:Zfp592 APN 7 81039230 missense probably benign 0.20
IGL02096:Zfp592 APN 7 81025048 missense probably damaging 1.00
IGL02374:Zfp592 APN 7 81024983 missense probably damaging 1.00
IGL02419:Zfp592 APN 7 81038245 missense probably damaging 1.00
IGL02466:Zfp592 APN 7 81023998 missense probably damaging 1.00
IGL02485:Zfp592 APN 7 81037970 splice site probably benign
IGL02500:Zfp592 APN 7 81041726 missense probably benign
IGL02876:Zfp592 APN 7 81038127 missense probably benign 0.01
IGL02940:Zfp592 APN 7 81024827 missense probably damaging 1.00
R0326:Zfp592 UTSW 7 81024889 missense possibly damaging 0.83
R0634:Zfp592 UTSW 7 81038071 missense probably damaging 1.00
R0684:Zfp592 UTSW 7 81037875 missense probably benign 0.00
R0750:Zfp592 UTSW 7 81024745 missense probably benign
R1346:Zfp592 UTSW 7 81038064 missense possibly damaging 0.54
R1457:Zfp592 UTSW 7 81024479 missense probably damaging 0.99
R1650:Zfp592 UTSW 7 81038100 missense probably benign 0.04
R1804:Zfp592 UTSW 7 81023695 missense probably damaging 1.00
R1918:Zfp592 UTSW 7 81037420 nonsense probably null
R2114:Zfp592 UTSW 7 81024796 missense probably damaging 1.00
R2144:Zfp592 UTSW 7 81038202 missense probably benign 0.01
R2164:Zfp592 UTSW 7 81041438 missense possibly damaging 0.87
R2246:Zfp592 UTSW 7 81041613 missense possibly damaging 0.91
R3701:Zfp592 UTSW 7 81037411 nonsense probably null
R3809:Zfp592 UTSW 7 81024532 missense probably benign 0.00
R4574:Zfp592 UTSW 7 81023786 missense possibly damaging 0.87
R4866:Zfp592 UTSW 7 81041859 missense probably damaging 1.00
R5023:Zfp592 UTSW 7 81024347 missense probably damaging 1.00
R5121:Zfp592 UTSW 7 81023561 missense probably damaging 1.00
R5174:Zfp592 UTSW 7 81038325 missense probably damaging 1.00
R5794:Zfp592 UTSW 7 81025033 missense probably benign 0.00
R5946:Zfp592 UTSW 7 81037897 missense possibly damaging 0.95
R6312:Zfp592 UTSW 7 81023436 missense probably benign 0.05
R6657:Zfp592 UTSW 7 81025486 missense possibly damaging 0.49
R6814:Zfp592 UTSW 7 81023828 missense probably benign 0.02
R6872:Zfp592 UTSW 7 81023828 missense probably benign 0.02
R7056:Zfp592 UTSW 7 81023319 missense probably damaging 1.00
R7295:Zfp592 UTSW 7 81024322 missense probably damaging 1.00
R7351:Zfp592 UTSW 7 81041691 missense probably benign 0.00
R7475:Zfp592 UTSW 7 81023452 missense probably damaging 0.99
X0022:Zfp592 UTSW 7 81038187 nonsense probably null
X0028:Zfp592 UTSW 7 81024014 missense probably damaging 1.00
Posted On2015-04-16