Incidental Mutation 'IGL00531:Zfp281'
ID 7366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp281
Ensembl Gene ENSMUSG00000041483
Gene Name zinc finger protein 281
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00531
Quality Score
Status
Chromosome 1
Chromosomal Location 136552639-136557791 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136555648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 875 (D875E)
Ref Sequence ENSEMBL: ENSMUSP00000107677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047734] [ENSMUST00000112046]
AlphaFold Q99LI5
Predicted Effect probably damaging
Transcript: ENSMUST00000047734
AA Change: D875E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039003
Gene: ENSMUSG00000041483
AA Change: D875E

DomainStartEndE-ValueType
low complexity region 4 36 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 161 171 N/A INTRINSIC
low complexity region 180 191 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
ZnF_C2H2 258 280 3.34e-2 SMART
ZnF_C2H2 286 308 6.78e-3 SMART
ZnF_C2H2 314 336 1.43e-1 SMART
ZnF_C2H2 342 362 2.97e1 SMART
low complexity region 397 407 N/A INTRINSIC
low complexity region 488 501 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112046
AA Change: D875E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107677
Gene: ENSMUSG00000041483
AA Change: D875E

DomainStartEndE-ValueType
low complexity region 4 36 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 161 171 N/A INTRINSIC
low complexity region 180 191 N/A INTRINSIC
low complexity region 230 241 N/A INTRINSIC
ZnF_C2H2 258 280 3.34e-2 SMART
ZnF_C2H2 286 308 6.78e-3 SMART
ZnF_C2H2 314 336 1.43e-1 SMART
ZnF_C2H2 342 362 2.97e1 SMART
low complexity region 397 407 N/A INTRINSIC
low complexity region 488 501 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180797
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E7.5 and E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dnah17 A G 11: 117,933,999 (GRCm39) I3525T probably damaging Het
Ednrb T C 14: 104,057,455 (GRCm39) Y369C probably damaging Het
Folh1 T A 7: 86,368,977 (GRCm39) I717L possibly damaging Het
Golga2 T A 2: 32,195,226 (GRCm39) D706E probably benign Het
Miip C A 4: 147,950,322 (GRCm39) W91C probably damaging Het
Nav3 T C 10: 109,539,171 (GRCm39) S2077G probably null Het
Nsrp1 G A 11: 76,937,021 (GRCm39) R392* probably null Het
Ryr3 T C 2: 112,493,357 (GRCm39) probably benign Het
Son A G 16: 91,461,210 (GRCm39) K177R probably damaging Het
Stau1 A G 2: 166,806,542 (GRCm39) S13P probably benign Het
Tnc G A 4: 63,889,390 (GRCm39) probably benign Het
Vezf1 G A 11: 87,964,320 (GRCm39) M157I probably benign Het
Other mutations in Zfp281
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Zfp281 APN 1 136,553,853 (GRCm39) missense probably damaging 1.00
IGL02037:Zfp281 APN 1 136,555,185 (GRCm39) missense possibly damaging 0.64
IGL03233:Zfp281 APN 1 136,554,567 (GRCm39) missense possibly damaging 0.82
PIT4486001:Zfp281 UTSW 1 136,554,741 (GRCm39) missense possibly damaging 0.48
R1514:Zfp281 UTSW 1 136,554,435 (GRCm39) missense probably benign 0.00
R1784:Zfp281 UTSW 1 136,553,091 (GRCm39) small insertion probably benign
R1785:Zfp281 UTSW 1 136,553,091 (GRCm39) small insertion probably benign
R2049:Zfp281 UTSW 1 136,553,091 (GRCm39) small insertion probably benign
R2142:Zfp281 UTSW 1 136,553,091 (GRCm39) small insertion probably benign
R4086:Zfp281 UTSW 1 136,553,859 (GRCm39) missense probably damaging 1.00
R4087:Zfp281 UTSW 1 136,553,859 (GRCm39) missense probably damaging 1.00
R4088:Zfp281 UTSW 1 136,553,859 (GRCm39) missense probably damaging 1.00
R4090:Zfp281 UTSW 1 136,553,859 (GRCm39) missense probably damaging 1.00
R4819:Zfp281 UTSW 1 136,553,448 (GRCm39) missense probably benign
R5380:Zfp281 UTSW 1 136,553,676 (GRCm39) missense possibly damaging 0.93
R6033:Zfp281 UTSW 1 136,554,464 (GRCm39) missense probably benign 0.14
R6033:Zfp281 UTSW 1 136,554,464 (GRCm39) missense probably benign 0.14
R6056:Zfp281 UTSW 1 136,553,178 (GRCm39) missense possibly damaging 0.93
R6213:Zfp281 UTSW 1 136,553,250 (GRCm39) missense probably benign 0.01
R7402:Zfp281 UTSW 1 136,553,190 (GRCm39) missense probably damaging 0.99
R7503:Zfp281 UTSW 1 136,554,678 (GRCm39) missense possibly damaging 0.67
R7969:Zfp281 UTSW 1 136,553,772 (GRCm39) missense probably benign 0.06
R8343:Zfp281 UTSW 1 136,555,620 (GRCm39) missense probably damaging 1.00
R8722:Zfp281 UTSW 1 136,553,334 (GRCm39) missense probably benign 0.00
R9199:Zfp281 UTSW 1 136,553,643 (GRCm39) missense probably benign
R9461:Zfp281 UTSW 1 136,554,500 (GRCm39) missense probably benign 0.28
R9487:Zfp281 UTSW 1 136,555,143 (GRCm39) missense probably damaging 0.96
R9532:Zfp281 UTSW 1 136,554,894 (GRCm39) missense probably benign
R9541:Zfp281 UTSW 1 136,555,303 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20