Incidental Mutation 'IGL02086:Zfp503'
ID 285485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp503
Ensembl Gene ENSMUSG00000039081
Gene Name zinc finger protein 503
Synonyms ZNF503, Nolz-1, B830002A16Rik, Zpo2, Nolz1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02086
Quality Score
Status
Chromosome 14
Chromosomal Location 22034030-22039669 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22037354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 83 (K83R)
Ref Sequence ENSEMBL: ENSMUSP00000046641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043409]
AlphaFold Q7TMA2
Predicted Effect possibly damaging
Transcript: ENSMUST00000043409
AA Change: K83R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046641
Gene: ENSMUSG00000039081
AA Change: K83R

DomainStartEndE-ValueType
low complexity region 16 32 N/A INTRINSIC
low complexity region 46 57 N/A INTRINSIC
low complexity region 131 165 N/A INTRINSIC
low complexity region 231 244 N/A INTRINSIC
low complexity region 249 280 N/A INTRINSIC
low complexity region 314 336 N/A INTRINSIC
Pfam:nlz1 361 421 7.7e-32 PFAM
low complexity region 442 467 N/A INTRINSIC
low complexity region 487 503 N/A INTRINSIC
ZnF_C2H2 520 548 9.71e0 SMART
low complexity region 563 576 N/A INTRINSIC
low complexity region 617 631 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Other mutations in Zfp503
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01950:Zfp503 APN 14 22,036,488 (GRCm39) missense probably benign 0.02
IGL02824:Zfp503 APN 14 22,035,162 (GRCm39) missense possibly damaging 0.95
R0317:Zfp503 UTSW 14 22,036,527 (GRCm39) missense probably benign 0.02
R1640:Zfp503 UTSW 14 22,034,969 (GRCm39) missense probably damaging 0.99
R1786:Zfp503 UTSW 14 22,035,588 (GRCm39) missense possibly damaging 0.86
R2414:Zfp503 UTSW 14 22,036,032 (GRCm39) nonsense probably null
R5181:Zfp503 UTSW 14 22,035,705 (GRCm39) missense probably benign 0.04
R5299:Zfp503 UTSW 14 22,035,507 (GRCm39) missense probably benign 0.17
R5994:Zfp503 UTSW 14 22,035,630 (GRCm39) missense possibly damaging 0.91
R6209:Zfp503 UTSW 14 22,035,778 (GRCm39) missense probably damaging 0.98
R6267:Zfp503 UTSW 14 22,035,868 (GRCm39) nonsense probably null
R6296:Zfp503 UTSW 14 22,035,868 (GRCm39) nonsense probably null
R6714:Zfp503 UTSW 14 22,035,825 (GRCm39) missense probably benign 0.24
R6865:Zfp503 UTSW 14 22,036,101 (GRCm39) missense probably damaging 1.00
R7206:Zfp503 UTSW 14 22,035,553 (GRCm39) missense possibly damaging 0.70
R7466:Zfp503 UTSW 14 22,036,079 (GRCm39) missense probably benign 0.04
R7994:Zfp503 UTSW 14 22,035,074 (GRCm39) missense probably damaging 0.98
R8000:Zfp503 UTSW 14 22,036,227 (GRCm39) missense possibly damaging 0.91
R8083:Zfp503 UTSW 14 22,036,132 (GRCm39) missense probably damaging 0.96
R8184:Zfp503 UTSW 14 22,036,019 (GRCm39) missense possibly damaging 0.55
R8443:Zfp503 UTSW 14 22,036,277 (GRCm39) missense probably benign
R8859:Zfp503 UTSW 14 22,037,286 (GRCm39) missense possibly damaging 0.70
R9127:Zfp503 UTSW 14 22,037,418 (GRCm39) missense probably benign 0.01
R9324:Zfp503 UTSW 14 22,035,353 (GRCm39) missense possibly damaging 0.68
R9567:Zfp503 UTSW 14 22,036,041 (GRCm39) missense possibly damaging 0.70
Z1176:Zfp503 UTSW 14 22,035,801 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16