Incidental Mutation 'R6657:Zfp592'
ID 526666
Institutional Source Beutler Lab
Gene Symbol Zfp592
Ensembl Gene ENSMUSG00000005621
Gene Name zinc finger protein 592
Synonyms A730014M16Rik
MMRRC Submission 044778-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R6657 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 80643432-80694912 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80675234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 733 (T733S)
Ref Sequence ENSEMBL: ENSMUSP00000102976 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107353]
AlphaFold Q8BHZ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000107353
AA Change: T733S

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102976
Gene: ENSMUSG00000005621
AA Change: T733S

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: ENSMUST00000176477
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik T G 8: 106,435,450 (GRCm39) L36R probably damaging Het
Akr1b1 C T 6: 34,286,939 (GRCm39) V206M possibly damaging Het
Akr1b7 A C 6: 34,393,135 (GRCm39) D106A probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Chst5 C T 8: 112,616,906 (GRCm39) R238Q probably benign Het
Cpxm2 T C 7: 131,650,806 (GRCm39) Y618C probably damaging Het
Csnk1d T C 11: 120,855,820 (GRCm39) E405G possibly damaging Het
Ctsh A T 9: 89,942,555 (GRCm39) M37L probably benign Het
Eml5 T G 12: 98,757,664 (GRCm39) I1843L probably damaging Het
Ep400 C A 5: 110,841,411 (GRCm39) probably benign Het
Fbln2 A G 6: 91,236,732 (GRCm39) N749S possibly damaging Het
Gpc5 A G 14: 115,607,610 (GRCm39) H404R probably benign Het
Hyal6 A G 6: 24,734,757 (GRCm39) D230G possibly damaging Het
Itga5 T C 15: 103,259,222 (GRCm39) D735G probably damaging Het
Kansl2 T A 15: 98,422,551 (GRCm39) Q339L possibly damaging Het
Lrp4 T A 2: 91,322,398 (GRCm39) M1078K probably benign Het
Mmp24 A T 2: 155,640,099 (GRCm39) Y143F probably damaging Het
Mroh7 A T 4: 106,559,697 (GRCm39) C743* probably null Het
Myh14 T C 7: 44,287,270 (GRCm39) N618D probably damaging Het
Myo19 A T 11: 84,788,022 (GRCm39) M324L probably benign Het
Nectin2 T C 7: 19,472,065 (GRCm39) N108S probably benign Het
Nrg2 A G 18: 36,329,642 (GRCm39) I191T probably damaging Het
Odf4 T C 11: 68,817,638 (GRCm39) N18D probably benign Het
Or5aq6 T A 2: 86,923,403 (GRCm39) I113F probably benign Het
Pcsk2 T G 2: 143,532,286 (GRCm39) L145V probably damaging Het
Pdzrn3 C A 6: 101,127,983 (GRCm39) Q894H probably benign Het
Pfpl G A 19: 12,407,290 (GRCm39) V514I probably benign Het
Plbd1 A T 6: 136,594,250 (GRCm39) M333K probably damaging Het
Plec A T 15: 76,062,356 (GRCm39) M2554K possibly damaging Het
Psmb5 A G 14: 54,851,840 (GRCm39) Y115H possibly damaging Het
Rictor A G 15: 6,788,977 (GRCm39) N198D possibly damaging Het
Rsrc2 A G 5: 123,877,630 (GRCm39) probably benign Het
Sec16a C T 2: 26,315,876 (GRCm39) W262* probably null Het
Sfmbt1 A G 14: 30,488,053 (GRCm39) D8G possibly damaging Het
Sptbn5 T G 2: 119,906,881 (GRCm39) probably benign Het
Sqor A G 2: 122,649,514 (GRCm39) D139G possibly damaging Het
Sugt1 A T 14: 79,844,701 (GRCm39) T139S probably benign Het
Tcp11 G A 17: 28,290,646 (GRCm39) P159S probably damaging Het
Tmem262 A G 19: 6,130,542 (GRCm39) T89A possibly damaging Het
Tnfaip6 C A 2: 51,933,795 (GRCm39) T50N probably damaging Het
Ttll9 T C 2: 152,826,182 (GRCm39) Y131H probably damaging Het
Vmn1r173 T A 7: 23,402,320 (GRCm39) M185K probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r52 G A 7: 9,893,090 (GRCm39) T683I probably damaging Het
Vps53 A T 11: 76,025,253 (GRCm39) I197N probably damaging Het
Washc4 T A 10: 83,394,482 (GRCm39) F269L possibly damaging Het
Wdfy4 C T 14: 32,769,208 (GRCm39) V2086M possibly damaging Het
Zfp599 A G 9: 22,161,538 (GRCm39) F209S probably damaging Het
Other mutations in Zfp592
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Zfp592 APN 7 80,691,296 (GRCm39) nonsense probably null
IGL01984:Zfp592 APN 7 80,688,392 (GRCm39) missense probably benign 0.00
IGL02079:Zfp592 APN 7 80,688,978 (GRCm39) missense probably benign 0.20
IGL02096:Zfp592 APN 7 80,674,796 (GRCm39) missense probably damaging 1.00
IGL02125:Zfp592 APN 7 80,687,932 (GRCm39) missense probably benign 0.00
IGL02374:Zfp592 APN 7 80,674,731 (GRCm39) missense probably damaging 1.00
IGL02419:Zfp592 APN 7 80,687,993 (GRCm39) missense probably damaging 1.00
IGL02466:Zfp592 APN 7 80,673,746 (GRCm39) missense probably damaging 1.00
IGL02485:Zfp592 APN 7 80,687,718 (GRCm39) splice site probably benign
IGL02500:Zfp592 APN 7 80,691,474 (GRCm39) missense probably benign
IGL02876:Zfp592 APN 7 80,687,875 (GRCm39) missense probably benign 0.01
IGL02940:Zfp592 APN 7 80,674,575 (GRCm39) missense probably damaging 1.00
R0326:Zfp592 UTSW 7 80,674,637 (GRCm39) missense possibly damaging 0.83
R0634:Zfp592 UTSW 7 80,687,819 (GRCm39) missense probably damaging 1.00
R0684:Zfp592 UTSW 7 80,687,623 (GRCm39) missense probably benign 0.00
R0750:Zfp592 UTSW 7 80,674,493 (GRCm39) missense probably benign
R1346:Zfp592 UTSW 7 80,687,812 (GRCm39) missense possibly damaging 0.54
R1457:Zfp592 UTSW 7 80,674,227 (GRCm39) missense probably damaging 0.99
R1650:Zfp592 UTSW 7 80,687,848 (GRCm39) missense probably benign 0.04
R1804:Zfp592 UTSW 7 80,673,443 (GRCm39) missense probably damaging 1.00
R1918:Zfp592 UTSW 7 80,687,168 (GRCm39) nonsense probably null
R2114:Zfp592 UTSW 7 80,674,544 (GRCm39) missense probably damaging 1.00
R2144:Zfp592 UTSW 7 80,687,950 (GRCm39) missense probably benign 0.01
R2164:Zfp592 UTSW 7 80,691,186 (GRCm39) missense possibly damaging 0.87
R2246:Zfp592 UTSW 7 80,691,361 (GRCm39) missense possibly damaging 0.91
R3701:Zfp592 UTSW 7 80,687,159 (GRCm39) nonsense probably null
R3809:Zfp592 UTSW 7 80,674,280 (GRCm39) missense probably benign 0.00
R4574:Zfp592 UTSW 7 80,673,534 (GRCm39) missense possibly damaging 0.87
R4866:Zfp592 UTSW 7 80,691,607 (GRCm39) missense probably damaging 1.00
R5023:Zfp592 UTSW 7 80,674,095 (GRCm39) missense probably damaging 1.00
R5121:Zfp592 UTSW 7 80,673,309 (GRCm39) missense probably damaging 1.00
R5174:Zfp592 UTSW 7 80,688,073 (GRCm39) missense probably damaging 1.00
R5794:Zfp592 UTSW 7 80,674,781 (GRCm39) missense probably benign 0.00
R5946:Zfp592 UTSW 7 80,687,645 (GRCm39) missense possibly damaging 0.95
R6312:Zfp592 UTSW 7 80,673,184 (GRCm39) missense probably benign 0.05
R6814:Zfp592 UTSW 7 80,673,576 (GRCm39) missense probably benign 0.02
R6872:Zfp592 UTSW 7 80,673,576 (GRCm39) missense probably benign 0.02
R7056:Zfp592 UTSW 7 80,673,067 (GRCm39) missense probably damaging 1.00
R7295:Zfp592 UTSW 7 80,674,070 (GRCm39) missense probably damaging 1.00
R7351:Zfp592 UTSW 7 80,691,439 (GRCm39) missense probably benign 0.00
R7475:Zfp592 UTSW 7 80,673,200 (GRCm39) missense probably damaging 0.99
R7509:Zfp592 UTSW 7 80,688,088 (GRCm39) missense probably damaging 0.99
R7552:Zfp592 UTSW 7 80,673,390 (GRCm39) missense probably benign 0.01
R7737:Zfp592 UTSW 7 80,674,941 (GRCm39) missense probably damaging 1.00
R7752:Zfp592 UTSW 7 80,674,469 (GRCm39) missense probably benign 0.13
R7901:Zfp592 UTSW 7 80,674,469 (GRCm39) missense probably benign 0.13
R8100:Zfp592 UTSW 7 80,673,940 (GRCm39) missense probably benign 0.05
R8440:Zfp592 UTSW 7 80,691,271 (GRCm39) missense possibly damaging 0.89
R8710:Zfp592 UTSW 7 80,673,321 (GRCm39) missense probably damaging 1.00
R8766:Zfp592 UTSW 7 80,674,353 (GRCm39) missense probably benign 0.00
R9083:Zfp592 UTSW 7 80,674,644 (GRCm39) missense possibly damaging 0.95
R9141:Zfp592 UTSW 7 80,674,205 (GRCm39) missense probably damaging 1.00
R9194:Zfp592 UTSW 7 80,674,349 (GRCm39) missense probably benign
R9197:Zfp592 UTSW 7 80,674,067 (GRCm39) missense possibly damaging 0.73
R9246:Zfp592 UTSW 7 80,691,529 (GRCm39) missense probably benign 0.03
R9321:Zfp592 UTSW 7 80,691,226 (GRCm39) missense possibly damaging 0.65
R9426:Zfp592 UTSW 7 80,674,205 (GRCm39) missense probably damaging 1.00
R9785:Zfp592 UTSW 7 80,673,245 (GRCm39) missense probably damaging 1.00
X0022:Zfp592 UTSW 7 80,687,935 (GRCm39) nonsense probably null
X0028:Zfp592 UTSW 7 80,673,762 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCGGACCAGATGTTTGTG -3'
(R):5'- CACCAGTATGGGTAGGATTATCTTC -3'

Sequencing Primer
(F):5'- GCTCCCGTGAACTCCACTG -3'
(R):5'- TGGGTAGGATTATCTTCCCAAATAAG -3'
Posted On 2018-07-23