Incidental Mutation 'IGL02156:Zfp488'
ID 282241
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp488
Ensembl Gene ENSMUSG00000044519
Gene Name zinc finger protein 488
Synonyms LOC382867
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02156
Quality Score
Status
Chromosome 14
Chromosomal Location 33689027-33700721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33692357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 269 (S269P)
Ref Sequence ENSEMBL: ENSMUSP00000132436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166737]
AlphaFold Q5HZG9
Predicted Effect possibly damaging
Transcript: ENSMUST00000166737
AA Change: S269P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132436
Gene: ENSMUSG00000044519
AA Change: S269P

DomainStartEndE-ValueType
low complexity region 161 175 N/A INTRINSIC
low complexity region 244 270 N/A INTRINSIC
ZnF_C2H2 272 294 2.89e1 SMART
ZnF_C2H2 314 336 5.06e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,566 (GRCm39) noncoding transcript Het
Adam33 G A 2: 130,895,078 (GRCm39) probably benign Het
Akr7a5 C A 4: 139,041,580 (GRCm39) A163D probably damaging Het
Arap1 T C 7: 101,037,937 (GRCm39) probably benign Het
Asf1a C T 10: 53,482,239 (GRCm39) A17V probably benign Het
Atp1a4 A T 1: 172,085,529 (GRCm39) S25T probably benign Het
Cbln4 T C 2: 171,884,128 (GRCm39) I31V probably benign Het
Ccdc93 T G 1: 121,376,005 (GRCm39) L172R possibly damaging Het
Ceacam9 T C 7: 16,457,544 (GRCm39) probably benign Het
Crhr1 C A 11: 104,054,709 (GRCm39) N107K probably benign Het
Cyp11b1 T A 15: 74,707,646 (GRCm39) M488L probably benign Het
Dnah7a A G 1: 53,458,882 (GRCm39) V3752A probably benign Het
Dnhd1 G A 7: 105,370,951 (GRCm39) V4744M probably damaging Het
Dstyk C A 1: 132,377,664 (GRCm39) N423K probably benign Het
Exph5 T C 9: 53,286,941 (GRCm39) S1341P probably damaging Het
Fam161b T C 12: 84,401,527 (GRCm39) H409R probably benign Het
Fbxo21 A G 5: 118,132,733 (GRCm39) probably benign Het
Flt1 A G 5: 147,618,551 (GRCm39) I230T probably damaging Het
Gm9931 T C 1: 147,157,366 (GRCm39) noncoding transcript Het
Grk6 T C 13: 55,597,174 (GRCm39) F36L possibly damaging Het
Grm1 G T 10: 10,595,720 (GRCm39) A636D probably damaging Het
Hectd1 A T 12: 51,800,916 (GRCm39) probably benign Het
Hltf G A 3: 20,146,971 (GRCm39) V577I possibly damaging Het
Hrob C T 11: 102,145,865 (GRCm39) S47F probably damaging Het
Lrrc8c A G 5: 105,755,359 (GRCm39) D378G probably damaging Het
Mcoln1 C A 8: 3,562,657 (GRCm39) S6* probably null Het
Meis1 A T 11: 18,961,292 (GRCm39) S194T probably benign Het
Myo1h A C 5: 114,491,972 (GRCm39) probably benign Het
Nop9 T A 14: 55,990,740 (GRCm39) C557* probably null Het
Nrap T C 19: 56,309,432 (GRCm39) D1619G probably damaging Het
Or10d1c T A 9: 38,893,842 (GRCm39) Y166F possibly damaging Het
Or4f61 A T 2: 111,922,361 (GRCm39) H228Q probably benign Het
Or7g34 A G 9: 19,478,494 (GRCm39) M59T probably damaging Het
Pard3b T A 1: 61,807,109 (GRCm39) D41E possibly damaging Het
Parp14 G T 16: 35,678,967 (GRCm39) Q334K probably benign Het
Phf3 A T 1: 30,847,859 (GRCm39) I1228K probably damaging Het
Polr1b T A 2: 128,965,799 (GRCm39) F814I probably benign Het
Prr5 A G 15: 84,654,236 (GRCm39) I306V possibly damaging Het
Rsph1 T G 17: 31,477,090 (GRCm39) S282R probably benign Het
Son T C 16: 91,452,992 (GRCm39) S580P possibly damaging Het
Sptbn5 G T 2: 119,878,098 (GRCm39) probably benign Het
Ssr2 T A 3: 88,491,095 (GRCm39) probably null Het
Tfpt A G 7: 3,632,039 (GRCm39) S24P probably damaging Het
Tg A G 15: 66,577,197 (GRCm39) T1507A probably benign Het
Trpm7 A G 2: 126,641,163 (GRCm39) probably benign Het
Wwox G A 8: 115,174,899 (GRCm39) probably null Het
Ythdf2 C T 4: 131,931,819 (GRCm39) R447H possibly damaging Het
Zfp385c A G 11: 100,519,845 (GRCm39) F368S probably damaging Het
Zhx1 A C 15: 57,917,445 (GRCm39) V267G possibly damaging Het
Other mutations in Zfp488
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Zfp488 APN 14 33,693,026 (GRCm39) missense probably benign 0.00
IGL02668:Zfp488 APN 14 33,692,777 (GRCm39) missense probably benign 0.01
R0504:Zfp488 UTSW 14 33,692,497 (GRCm39) missense probably damaging 0.97
R4021:Zfp488 UTSW 14 33,693,110 (GRCm39) missense probably benign 0.01
R4022:Zfp488 UTSW 14 33,693,110 (GRCm39) missense probably benign 0.01
R4291:Zfp488 UTSW 14 33,692,851 (GRCm39) missense possibly damaging 0.83
R6180:Zfp488 UTSW 14 33,692,751 (GRCm39) missense possibly damaging 0.66
R6927:Zfp488 UTSW 14 33,692,755 (GRCm39) missense probably benign
R7687:Zfp488 UTSW 14 33,692,357 (GRCm39) missense possibly damaging 0.83
R8416:Zfp488 UTSW 14 33,693,052 (GRCm39) missense probably benign 0.04
R8857:Zfp488 UTSW 14 33,692,760 (GRCm39) missense probably benign 0.38
R9151:Zfp488 UTSW 14 33,692,695 (GRCm39) missense possibly damaging 0.66
Posted On 2015-04-16