Incidental Mutation 'IGL02013:Gm28557'
ID 183418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm28557
Ensembl Gene ENSMUSG00000100235
Gene Name predicted gene 28557
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02013
Quality Score
Status
Chromosome 13
Chromosomal Location 67217463-67256668 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67219116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 248 (F248L)
Ref Sequence ENSEMBL: ENSMUSP00000105365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109742] [ENSMUST00000109743] [ENSMUST00000186303] [ENSMUST00000190566]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000109742
AA Change: F236L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000105364
Gene: ENSMUSG00000058883
AA Change: F236L

DomainStartEndE-ValueType
KRAB 5 65 3.75e-28 SMART
ZnF_C2H2 81 103 1.12e-3 SMART
ZnF_C2H2 109 131 5.14e-3 SMART
ZnF_C2H2 137 159 1.1e-2 SMART
ZnF_C2H2 165 187 6.78e-3 SMART
ZnF_C2H2 193 215 1.47e-3 SMART
ZnF_C2H2 221 243 7.78e-3 SMART
ZnF_C2H2 249 271 1.95e-3 SMART
ZnF_C2H2 277 299 5.21e-4 SMART
ZnF_C2H2 305 327 7.9e-4 SMART
ZnF_C2H2 333 355 8.34e-3 SMART
ZnF_C2H2 361 383 1.3e-4 SMART
ZnF_C2H2 389 411 4.87e-4 SMART
ZnF_C2H2 417 439 5.14e-3 SMART
ZnF_C2H2 445 467 1.2e-3 SMART
ZnF_C2H2 473 495 1.72e-4 SMART
ZnF_C2H2 501 523 1.6e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109743
AA Change: F248L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000105365
Gene: ENSMUSG00000058883
AA Change: F248L

DomainStartEndE-ValueType
KRAB 17 77 3.75e-28 SMART
ZnF_C2H2 93 115 1.12e-3 SMART
ZnF_C2H2 121 143 5.14e-3 SMART
ZnF_C2H2 149 171 1.1e-2 SMART
ZnF_C2H2 177 199 6.78e-3 SMART
ZnF_C2H2 205 227 1.47e-3 SMART
ZnF_C2H2 233 255 7.78e-3 SMART
ZnF_C2H2 261 283 1.95e-3 SMART
ZnF_C2H2 289 311 5.21e-4 SMART
ZnF_C2H2 317 339 7.9e-4 SMART
ZnF_C2H2 345 367 8.34e-3 SMART
ZnF_C2H2 373 395 1.3e-4 SMART
ZnF_C2H2 401 423 4.87e-4 SMART
ZnF_C2H2 429 451 5.14e-3 SMART
ZnF_C2H2 457 479 1.2e-3 SMART
ZnF_C2H2 485 507 1.72e-4 SMART
ZnF_C2H2 513 535 1.6e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185954
Predicted Effect probably benign
Transcript: ENSMUST00000186303
SMART Domains Protein: ENSMUSP00000140296
Gene: ENSMUSG00000100235

DomainStartEndE-ValueType
KRAB 1 32 9.7e-3 SMART
ZnF_C2H2 47 69 1.8e-6 SMART
ZnF_C2H2 75 97 6.7e-5 SMART
ZnF_C2H2 103 125 7.6e-6 SMART
ZnF_C2H2 131 153 7.6e-6 SMART
ZnF_C2H2 159 181 1.4e-7 SMART
ZnF_C2H2 187 209 7.6e-6 SMART
ZnF_C2H2 215 237 5.5e-5 SMART
ZnF_C2H2 243 265 8.9e-7 SMART
ZnF_C2H2 271 293 2e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190566
AA Change: F203L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000139928
Gene: ENSMUSG00000058883
AA Change: F203L

DomainStartEndE-ValueType
KRAB 1 32 1.6e-3 SMART
ZnF_C2H2 48 70 4.7e-6 SMART
ZnF_C2H2 76 98 2.1e-5 SMART
ZnF_C2H2 104 126 4.6e-5 SMART
ZnF_C2H2 132 154 2.9e-5 SMART
ZnF_C2H2 160 182 6.3e-6 SMART
ZnF_C2H2 188 210 3.3e-5 SMART
ZnF_C2H2 216 238 8.2e-6 SMART
ZnF_C2H2 244 266 2.2e-6 SMART
ZnF_C2H2 272 294 3.4e-6 SMART
ZnF_C2H2 300 322 3.6e-5 SMART
ZnF_C2H2 328 350 5.5e-7 SMART
ZnF_C2H2 356 378 2.1e-6 SMART
ZnF_C2H2 384 406 2.1e-5 SMART
ZnF_C2H2 412 434 5e-6 SMART
ZnF_C2H2 440 462 7.2e-7 SMART
ZnF_C2H2 468 490 6.8e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224641
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,773,698 (GRCm39) Y543C probably damaging Het
Acp4 G T 7: 43,904,505 (GRCm39) T186N probably benign Het
Adgrg6 T A 10: 14,302,555 (GRCm39) M953L probably damaging Het
Cp C A 3: 20,042,213 (GRCm39) H994N probably damaging Het
Csmd2 G A 4: 128,215,116 (GRCm39) D513N possibly damaging Het
Nup155 G T 15: 8,143,132 (GRCm39) M100I possibly damaging Het
Odad2 A G 18: 7,265,157 (GRCm39) probably benign Het
Or8b12b A G 9: 37,684,185 (GRCm39) I77V probably benign Het
Or8c11 G A 9: 38,289,373 (GRCm39) M59I probably benign Het
Pgm1 G A 4: 99,841,158 (GRCm39) probably benign Het
Reln A G 5: 22,155,877 (GRCm39) F2205S probably damaging Het
Scmh1 G A 4: 120,340,929 (GRCm39) R205Q possibly damaging Het
Sema3e G A 5: 14,280,207 (GRCm39) G362D probably damaging Het
Sftpb C T 6: 72,282,655 (GRCm39) T79I probably benign Het
Sgcd C A 11: 46,871,770 (GRCm39) probably benign Het
Shprh T A 10: 11,057,246 (GRCm39) probably benign Het
Spmap2 T C 10: 79,415,769 (GRCm39) probably null Het
Ssc5d C T 7: 4,946,835 (GRCm39) S1063F probably benign Het
Tdrd6 T C 17: 43,936,837 (GRCm39) T1404A probably benign Het
Vmn2r67 G A 7: 84,800,863 (GRCm39) P358S probably benign Het
Wnk2 A T 13: 49,235,510 (GRCm39) M635K possibly damaging Het
Zfp474 C A 18: 52,771,971 (GRCm39) A208D possibly damaging Het
Other mutations in Gm28557
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01533:Gm28557 APN 13 67,219,396 (GRCm39) nonsense probably null
IGL02609:Gm28557 APN 13 67,219,083 (GRCm39) nonsense probably null
IGL02626:Gm28557 APN 13 67,223,008 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07