Incidental Mutation 'IGL02176:Zfp275'
ID 283123
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp275
Ensembl Gene ENSMUSG00000031365
Gene Name zinc finger protein 275
Synonyms DXPas8, DXBay20, 5430431L06Rik, DXHXS52
Accession Numbers
Essential gene? Not available question?
Stock # IGL02176
Quality Score
Status
Chromosome X
Chromosomal Location 72386227-72402686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72396889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 12 (S12T)
Ref Sequence ENSEMBL: ENSMUSP00000110143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033731] [ENSMUST00000114499]
AlphaFold G3X904
Predicted Effect probably benign
Transcript: ENSMUST00000033731
AA Change: S134T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000033731
Gene: ENSMUSG00000031365
AA Change: S134T

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
KRAB 43 99 1.69e0 SMART
ZnF_C2H2 169 191 1.45e-2 SMART
ZnF_C2H2 197 219 1.89e-1 SMART
ZnF_C2H2 251 273 9.08e-4 SMART
ZnF_C2H2 279 301 2.53e-2 SMART
ZnF_C2H2 307 329 3.58e-2 SMART
ZnF_C2H2 335 357 5.14e-3 SMART
ZnF_C2H2 363 385 1.38e-3 SMART
ZnF_C2H2 391 413 3.21e-4 SMART
ZnF_C2H2 419 441 3.89e-3 SMART
ZnF_C2H2 447 469 5.21e-4 SMART
ZnF_C2H2 475 497 1.79e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114499
AA Change: S12T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110143
Gene: ENSMUSG00000031365
AA Change: S12T

DomainStartEndE-ValueType
ZnF_C2H2 47 69 1.45e-2 SMART
ZnF_C2H2 75 97 1.89e-1 SMART
ZnF_C2H2 129 151 9.08e-4 SMART
ZnF_C2H2 157 179 2.53e-2 SMART
ZnF_C2H2 185 207 3.58e-2 SMART
ZnF_C2H2 213 235 5.14e-3 SMART
ZnF_C2H2 241 263 1.38e-3 SMART
ZnF_C2H2 269 291 3.21e-4 SMART
ZnF_C2H2 297 319 3.89e-3 SMART
ZnF_C2H2 325 347 5.21e-4 SMART
ZnF_C2H2 353 375 1.79e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139996
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 encodes a zinc finger protein that appears to be conserved in eutheria. Its function has not yet been established. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 G T 10: 20,846,815 (GRCm39) R415L probably benign Het
Ankle1 C A 8: 71,858,903 (GRCm39) H45Q probably damaging Het
Anks1b A T 10: 89,878,530 (GRCm39) H113L probably damaging Het
Arhgap33 T A 7: 30,223,476 (GRCm39) H851L possibly damaging Het
Atp12a C T 14: 56,624,636 (GRCm39) S972L probably damaging Het
Atrip T C 9: 108,896,114 (GRCm39) D301G probably benign Het
Bckdk A G 7: 127,505,545 (GRCm39) T223A probably benign Het
C3 C A 17: 57,533,337 (GRCm39) probably benign Het
C8g A G 2: 25,389,122 (GRCm39) S154P probably damaging Het
Casz1 A G 4: 149,019,076 (GRCm39) D459G probably damaging Het
Cdca7 A G 2: 72,314,988 (GRCm39) T293A probably damaging Het
Cmya5 T A 13: 93,226,658 (GRCm39) D2810V probably damaging Het
CN725425 G A 15: 91,130,024 (GRCm39) V296I probably benign Het
Col17a1 A G 19: 47,639,658 (GRCm39) M1077T probably benign Het
Ddhd1 A T 14: 45,854,057 (GRCm39) H426Q probably damaging Het
Dpp6 C T 5: 27,928,575 (GRCm39) T799M probably damaging Het
Efs C T 14: 55,158,499 (GRCm39) G53D probably damaging Het
Fer1l4 A G 2: 155,890,371 (GRCm39) V221A probably benign Het
Gabre G A X: 71,318,259 (GRCm39) Q17* probably null Het
Gpld1 T C 13: 25,168,192 (GRCm39) probably null Het
Gpr107 T A 2: 31,058,858 (GRCm39) V116D probably benign Het
Huwe1 T C X: 150,686,964 (GRCm39) S2283P possibly damaging Het
Ksr1 A G 11: 78,911,617 (GRCm39) S722P probably benign Het
Lmbrd2 A G 15: 9,182,661 (GRCm39) E532G probably damaging Het
Lrfn1 T C 7: 28,158,111 (GRCm39) probably benign Het
Lrrc4c A G 2: 97,460,598 (GRCm39) D408G probably damaging Het
Mbp A G 18: 82,572,670 (GRCm39) E122G probably damaging Het
Myo9a T A 9: 59,777,836 (GRCm39) D1197E probably benign Het
Ncor1 A T 11: 62,220,485 (GRCm39) probably benign Het
Or2y17 A G 11: 49,232,133 (GRCm39) Y258C probably benign Het
Pdcd1lg2 A G 19: 29,414,732 (GRCm39) E53G probably benign Het
Phex G T X: 156,051,489 (GRCm39) A469E probably damaging Het
Pigo A G 4: 43,019,352 (GRCm39) S957P probably benign Het
Ppargc1b T A 18: 61,443,946 (GRCm39) R406* probably null Het
Ppargc1b C A 18: 61,443,945 (GRCm39) R422I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Thnsl1 G T 2: 21,216,665 (GRCm39) A140S possibly damaging Het
Tm9sf3 A G 19: 41,235,076 (GRCm39) probably benign Het
Tma7 T A 9: 108,911,153 (GRCm39) probably benign Het
Tmtc2 T G 10: 105,184,354 (GRCm39) S514R probably benign Het
Unc79 G A 12: 102,965,006 (GRCm39) probably null Het
Wdr89 A T 12: 75,679,897 (GRCm39) I119N probably damaging Het
Wiz C A 17: 32,575,876 (GRCm39) R843S probably damaging Het
Other mutations in Zfp275
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2006:Zfp275 UTSW X 72,396,841 (GRCm39) missense possibly damaging 0.53
Posted On 2015-04-16