Incidental Mutation 'IGL01129:Pfn4'
ID52483
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pfn4
Ensembl Gene ENSMUSG00000020639
Gene Nameprofilin family, member 4
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01129
Quality Score
Status
Chromosome12
Chromosomal Location4769022-4778813 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4775505 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 114 (V114E)
Ref Sequence ENSEMBL: ENSMUSP00000136765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020967] [ENSMUST00000178879] [ENSMUST00000219438] [ENSMUST00000219503]
Predicted Effect probably damaging
Transcript: ENSMUST00000020967
AA Change: V114E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: V114E

DomainStartEndE-ValueType
Pfam:Profilin 4 124 5.4e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178879
AA Change: V114E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: V114E

DomainStartEndE-ValueType
Pfam:Profilin 5 124 9.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219438
Predicted Effect probably damaging
Transcript: ENSMUST00000219503
AA Change: V114E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik A T X: 67,920,604 F216L possibly damaging Het
Bace2 T G 16: 97,408,430 N181K probably damaging Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ckap2 C T 8: 22,169,758 G569D probably damaging Het
Col11a1 T C 3: 114,185,873 probably benign Het
Col1a2 G A 6: 4,535,846 D939N unknown Het
Creb3l2 A T 6: 37,353,634 probably benign Het
Cuedc1 T A 11: 88,183,254 S205T possibly damaging Het
Cux1 G A 5: 136,304,718 probably benign Het
Cyp3a59 A G 5: 146,098,279 M256V probably benign Het
Gzf1 C A 2: 148,690,996 P690Q probably damaging Het
Lrch3 T A 16: 32,994,965 D575E probably benign Het
Lypd3 A G 7: 24,640,593 M362V probably benign Het
Mppe1 C A 18: 67,237,444 G61* probably null Het
Nr2c2 T A 6: 92,158,416 D328E probably benign Het
Olfr6 T C 7: 106,956,427 N170D probably damaging Het
Rab14 T C 2: 35,183,386 probably benign Het
Slc30a9 G T 5: 67,342,143 G315C probably damaging Het
Spag16 A T 1: 69,896,522 S303C probably benign Het
Spata16 C T 3: 26,913,184 probably benign Het
Srcap T C 7: 127,521,651 V161A probably damaging Het
Srd5a3 A G 5: 76,149,746 probably benign Het
Vmn1r18 A T 6: 57,390,497 F24Y probably benign Het
Vmn1r78 A T 7: 12,153,238 T259S probably benign Het
Zc3h13 G A 14: 75,335,999 D1527N probably damaging Het
Other mutations in Pfn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Pfn4 APN 12 4770240 missense probably benign 0.01
IGL01726:Pfn4 APN 12 4774446 missense probably benign 0.00
IGL02896:Pfn4 APN 12 4775451 missense probably benign 0.02
R2082:Pfn4 UTSW 12 4775439 splice site probably null
R2201:Pfn4 UTSW 12 4774382 splice site probably null
R4373:Pfn4 UTSW 12 4770182 missense probably damaging 0.99
R4376:Pfn4 UTSW 12 4770182 missense probably damaging 0.99
R4377:Pfn4 UTSW 12 4770182 missense probably damaging 0.99
R4692:Pfn4 UTSW 12 4774486 missense probably damaging 1.00
R6762:Pfn4 UTSW 12 4775487 missense probably damaging 1.00
R7711:Pfn4 UTSW 12 4774414 missense possibly damaging 0.77
R8125:Pfn4 UTSW 12 4775487 missense probably damaging 1.00
Posted On2013-06-21