Incidental Mutation 'IGL01405:Zfp523'
ID 79774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp523
Ensembl Gene ENSMUSG00000024220
Gene Name zinc finger protein 523
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.254) question?
Stock # IGL01405
Quality Score
Status
Chromosome 17
Chromosomal Location 28396136-28424860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28423480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 152 (S152P)
Ref Sequence ENSEMBL: ENSMUSP00000117730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002318] [ENSMUST00000002327] [ENSMUST00000073534] [ENSMUST00000133868] [ENSMUST00000155030]
AlphaFold Q8BMU0
Predicted Effect probably benign
Transcript: ENSMUST00000002318
AA Change: S516P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002318
Gene: ENSMUSG00000024220
AA Change: S516P

DomainStartEndE-ValueType
internal_repeat_1 7 45 7.42e-6 PROSPERO
internal_repeat_1 60 99 7.42e-6 PROSPERO
low complexity region 116 129 N/A INTRINSIC
ZnF_C2H2 165 189 7.15e-2 SMART
ZnF_C2H2 195 219 3.16e-3 SMART
ZnF_C2H2 225 249 8.47e-4 SMART
ZnF_C2H2 255 279 2.24e-3 SMART
ZnF_C2H2 285 309 3.44e-4 SMART
ZnF_C2H2 315 339 1.69e-3 SMART
ZnF_C2H2 345 368 5.06e-2 SMART
low complexity region 375 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000002327
SMART Domains Protein: ENSMUSP00000002327
Gene: ENSMUSG00000002257

DomainStartEndE-ValueType
low complexity region 145 166 N/A INTRINSIC
PH 217 314 3.87e-20 SMART
coiled coil region 318 551 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073534
AA Change: S516P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073226
Gene: ENSMUSG00000024220
AA Change: S516P

DomainStartEndE-ValueType
internal_repeat_1 7 45 7.42e-6 PROSPERO
internal_repeat_1 60 99 7.42e-6 PROSPERO
low complexity region 116 129 N/A INTRINSIC
ZnF_C2H2 165 189 7.15e-2 SMART
ZnF_C2H2 195 219 3.16e-3 SMART
ZnF_C2H2 225 249 8.47e-4 SMART
ZnF_C2H2 255 279 2.24e-3 SMART
ZnF_C2H2 285 309 3.44e-4 SMART
ZnF_C2H2 315 339 1.69e-3 SMART
ZnF_C2H2 345 368 5.06e-2 SMART
low complexity region 375 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129522
Predicted Effect probably benign
Transcript: ENSMUST00000133868
SMART Domains Protein: ENSMUSP00000123127
Gene: ENSMUSG00000024220

DomainStartEndE-ValueType
low complexity region 35 48 N/A INTRINSIC
ZnF_C2H2 84 108 7.15e-2 SMART
ZnF_C2H2 114 138 3.16e-3 SMART
ZnF_C2H2 144 168 8.47e-4 SMART
ZnF_C2H2 174 198 3.44e-4 SMART
ZnF_C2H2 204 228 1.69e-3 SMART
ZnF_C2H2 234 257 5.06e-2 SMART
low complexity region 264 285 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145313
Predicted Effect probably damaging
Transcript: ENSMUST00000155030
AA Change: S152P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117730
Gene: ENSMUSG00000024220
AA Change: S152P

DomainStartEndE-ValueType
low complexity region 18 35 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146724
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151595
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G A 17: 36,274,902 (GRCm39) R82W probably damaging Het
Atxn7 T C 14: 14,100,105 (GRCm38) V597A probably benign Het
Bsg T A 10: 79,547,348 (GRCm39) M205K probably benign Het
Ccdc18 T C 5: 108,350,052 (GRCm39) probably benign Het
Cdh1 T C 8: 107,375,633 (GRCm39) V57A probably damaging Het
Ddost A G 4: 138,039,014 (GRCm39) D378G probably damaging Het
Depdc5 A G 5: 33,095,033 (GRCm39) E779G possibly damaging Het
Elp5 T C 11: 69,859,962 (GRCm39) R250G probably damaging Het
Gnb1 A G 4: 155,627,645 (GRCm39) H142R probably damaging Het
Ift172 G T 5: 31,419,196 (GRCm39) Y1148* probably null Het
Kif5a T C 10: 127,081,859 (GRCm39) N153S probably damaging Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Man2a2 T A 7: 80,010,682 (GRCm39) M770L probably benign Het
Msh2 T C 17: 87,985,663 (GRCm39) L80P probably damaging Het
Naip5 A T 13: 100,358,453 (GRCm39) S928T probably benign Het
Or7g35 T A 9: 19,496,501 (GRCm39) S223T probably benign Het
Pla2g4d T C 2: 120,097,304 (GRCm39) N765S probably benign Het
Plcb4 C T 2: 135,792,267 (GRCm39) T330I probably damaging Het
Ppp3ca A G 3: 136,574,482 (GRCm39) I127V probably benign Het
Rapgef5 C A 12: 117,685,115 (GRCm39) T320K probably benign Het
Rbfa A G 18: 80,236,080 (GRCm39) V223A probably benign Het
Rfx7 A G 9: 72,517,626 (GRCm39) M187V probably benign Het
Ric1 T C 19: 29,544,770 (GRCm39) probably benign Het
Slc22a16 C T 10: 40,461,191 (GRCm39) T331M probably benign Het
Slc34a1 T C 13: 55,559,941 (GRCm39) S303P probably damaging Het
Slfn3 T C 11: 83,105,542 (GRCm39) V513A possibly damaging Het
Tbce A T 13: 14,178,280 (GRCm39) I370N probably damaging Het
Zfp358 G A 8: 3,545,663 (GRCm39) D109N probably benign Het
Zfp961 A G 8: 72,721,778 (GRCm39) N78S possibly damaging Het
Other mutations in Zfp523
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Zfp523 APN 17 28,420,023 (GRCm39) missense possibly damaging 0.95
IGL02430:Zfp523 APN 17 28,414,113 (GRCm39) unclassified probably benign
R0496:Zfp523 UTSW 17 28,419,419 (GRCm39) missense possibly damaging 0.83
R1533:Zfp523 UTSW 17 28,423,473 (GRCm39) missense probably benign 0.18
R1837:Zfp523 UTSW 17 28,413,967 (GRCm39) missense probably damaging 0.99
R1838:Zfp523 UTSW 17 28,413,967 (GRCm39) missense probably damaging 0.99
R1839:Zfp523 UTSW 17 28,413,967 (GRCm39) missense probably damaging 0.99
R2023:Zfp523 UTSW 17 28,419,978 (GRCm39) unclassified probably benign
R2104:Zfp523 UTSW 17 28,414,190 (GRCm39) missense probably benign 0.31
R2403:Zfp523 UTSW 17 28,414,183 (GRCm39) missense probably damaging 1.00
R2864:Zfp523 UTSW 17 28,421,514 (GRCm39) missense probably benign 0.00
R4157:Zfp523 UTSW 17 28,421,257 (GRCm39) missense probably benign 0.06
R4214:Zfp523 UTSW 17 28,420,003 (GRCm39) missense probably benign 0.04
R4771:Zfp523 UTSW 17 28,420,312 (GRCm39) splice site probably null
R5869:Zfp523 UTSW 17 28,413,967 (GRCm39) missense probably benign 0.37
R5950:Zfp523 UTSW 17 28,421,532 (GRCm39) missense probably benign 0.06
R6443:Zfp523 UTSW 17 28,420,381 (GRCm39) missense probably damaging 0.99
R6679:Zfp523 UTSW 17 28,421,194 (GRCm39) missense probably damaging 1.00
R6694:Zfp523 UTSW 17 28,419,446 (GRCm39) missense probably damaging 1.00
R7669:Zfp523 UTSW 17 28,420,015 (GRCm39) missense probably damaging 1.00
R8103:Zfp523 UTSW 17 28,420,267 (GRCm39) missense probably damaging 1.00
R8315:Zfp523 UTSW 17 28,421,562 (GRCm39) missense possibly damaging 0.90
R9001:Zfp523 UTSW 17 28,408,915 (GRCm39) missense possibly damaging 0.64
R9406:Zfp523 UTSW 17 28,416,840 (GRCm39) missense probably benign
Posted On 2013-11-05