Incidental Mutation 'IGL03233:Zfp281'
ID413966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp281
Ensembl Gene ENSMUSG00000041483
Gene Namezinc finger protein 281
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03233
Quality Score
Status
Chromosome1
Chromosomal Location136624901-136630053 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 136626829 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 515 (Q515R)
Ref Sequence ENSEMBL: ENSMUSP00000107677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047734] [ENSMUST00000112046]
Predicted Effect possibly damaging
Transcript: ENSMUST00000047734
AA Change: Q515R

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039003
Gene: ENSMUSG00000041483
AA Change: Q515R

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 possibly damaging
Transcript: ENSMUST00000112046
AA Change: Q515R

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107677
Gene: ENSMUSG00000041483
AA Change: Q515R

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,342,120 F856S probably damaging Het
Ak7 A G 12: 105,761,480 D457G probably damaging Het
Ankrd26 G T 6: 118,535,146 probably null Het
Ano5 C A 7: 51,570,368 P405T probably damaging Het
Asah2 T A 19: 32,054,631 N46I probably benign Het
Atg4c A T 4: 99,229,503 Y343F probably benign Het
Cab39 T A 1: 85,842,323 M175K probably benign Het
Cadps2 T C 6: 23,263,601 E1257G probably benign Het
Casc1 A T 6: 145,181,885 Y433N probably damaging Het
Ces1d A G 8: 93,195,079 Y19H probably benign Het
Cst6 T C 19: 5,349,261 D25G probably damaging Het
Cyp4a30b A T 4: 115,458,970 T298S probably benign Het
Dgkk T C X: 6,903,838 L352P probably damaging Het
Dync2h1 A C 9: 7,101,525 F482V possibly damaging Het
Esco1 A G 18: 10,574,877 W208R probably damaging Het
Fbn2 T C 18: 58,102,377 D676G probably benign Het
Foxp3 T C X: 7,587,423 probably benign Het
Gpr108 T A 17: 57,245,042 I123F probably benign Het
Gsdmc4 A T 15: 63,902,860 V24E probably damaging Het
Jam3 C A 9: 27,101,921 V118F probably damaging Het
Kif23 T A 9: 61,926,453 I489F probably benign Het
Lama3 T A 18: 12,481,038 V1288D probably damaging Het
Mark2 G T 19: 7,284,726 H308N possibly damaging Het
Mms19 T C 19: 41,946,913 probably null Het
Neb A T 2: 52,308,301 I477N possibly damaging Het
Npm1 G T 11: 33,156,717 Q204K probably benign Het
Nsun5 G A 5: 135,375,445 V369M probably damaging Het
Olfr1355 C A 10: 78,879,572 Y133* probably null Het
Pcdhb13 T A 18: 37,444,265 N565K probably damaging Het
Pla2r1 A G 2: 60,428,580 F1155L possibly damaging Het
Pus10 T A 11: 23,712,241 W304R probably damaging Het
Rab32 G A 10: 10,546,313 Q221* probably null Het
Rlf A G 4: 121,182,600 probably benign Het
Robo1 A T 16: 72,970,193 I418F probably damaging Het
Slc44a2 T C 9: 21,348,622 I642T possibly damaging Het
Ston2 T A 12: 91,647,853 T594S probably damaging Het
Szt2 T C 4: 118,372,529 T2802A unknown Het
Tshz3 T A 7: 36,770,079 Y498N probably damaging Het
Zfp280b T A 10: 76,039,769 I494N probably damaging Het
Other mutations in Zfp281
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00531:Zfp281 APN 1 136627910 missense probably damaging 1.00
IGL01408:Zfp281 APN 1 136626115 missense probably damaging 1.00
IGL02037:Zfp281 APN 1 136627447 missense possibly damaging 0.64
PIT4486001:Zfp281 UTSW 1 136627003 missense possibly damaging 0.48
R1514:Zfp281 UTSW 1 136626697 missense probably benign 0.00
R1784:Zfp281 UTSW 1 136625353 small insertion probably benign
R1785:Zfp281 UTSW 1 136625353 small insertion probably benign
R2049:Zfp281 UTSW 1 136625353 small insertion probably benign
R2142:Zfp281 UTSW 1 136625353 small insertion probably benign
R4086:Zfp281 UTSW 1 136626121 missense probably damaging 1.00
R4087:Zfp281 UTSW 1 136626121 missense probably damaging 1.00
R4088:Zfp281 UTSW 1 136626121 missense probably damaging 1.00
R4090:Zfp281 UTSW 1 136626121 missense probably damaging 1.00
R4819:Zfp281 UTSW 1 136625710 missense probably benign
R5380:Zfp281 UTSW 1 136625938 missense possibly damaging 0.93
R6033:Zfp281 UTSW 1 136626726 missense probably benign 0.14
R6033:Zfp281 UTSW 1 136626726 missense probably benign 0.14
R6056:Zfp281 UTSW 1 136625440 missense possibly damaging 0.93
R6213:Zfp281 UTSW 1 136625512 missense probably benign 0.01
Posted On2016-08-02