Incidental Mutation 'IGL02896:Pfn4'
ID363409
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 #IGL02896
Quality Score
Status
Chromosome12
Chromosomal Location4769022-4778813 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 4775451 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 96 (N96S)
Ref Sequence ENSEMBL: ENSMUSP00000136765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020967] [ENSMUST00000178879] [ENSMUST00000219438] [ENSMUST00000219503]
Predicted Effect probably benign
Transcript: ENSMUST00000020967
AA Change: N96S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: N96S

DomainStartEndE-ValueType
Pfam:Profilin 4 124 5.4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178879
AA Change: N96S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: N96S

DomainStartEndE-ValueType
Pfam:Profilin 5 124 9.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219438
Predicted Effect probably benign
Transcript: ENSMUST00000219503
AA Change: N96S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402J07Rik A G 8: 87,589,020 D246G probably damaging Het
Adcy2 A G 13: 68,727,872 S504P probably damaging Het
Adgrv1 A T 13: 81,520,739 I2566K probably damaging Het
Als2 A G 1: 59,183,787 V1108A probably benign Het
Atad2b T A 12: 4,958,151 F466I probably damaging Het
Cyp2a22 T C 7: 26,936,461 M226V probably damaging Het
D5Ertd579e T C 5: 36,613,982 D1023G possibly damaging Het
D630003M21Rik T C 2: 158,217,285 I232V probably benign Het
Dolpp1 T C 2: 30,396,230 S114P probably damaging Het
Fars2 T A 13: 36,204,842 S105T probably benign Het
Fndc7 T C 3: 108,862,931 I560V probably benign Het
Gcn1l1 T C 5: 115,619,648 probably benign Het
Gm5134 T C 10: 75,974,224 L113P possibly damaging Het
Hipk2 G T 6: 38,698,447 H1066Q probably damaging Het
Katnb1 A G 8: 95,096,028 probably benign Het
Lrrd1 T A 5: 3,851,473 S593T probably benign Het
Mastl T C 2: 23,131,767 R713G probably damaging Het
Mrgpra6 T A 7: 47,188,907 D181V probably benign Het
Mroh7 C T 4: 106,699,816 V828I possibly damaging Het
Nbeal2 A G 9: 110,639,292 probably null Het
Nckap5l G T 15: 99,427,210 Q471K possibly damaging Het
Olfr262 A T 19: 12,240,989 L224* probably null Het
Olfr344 A T 2: 36,569,205 L202F possibly damaging Het
Olfr536 T C 7: 140,504,055 probably null Het
Papd4 A T 13: 93,168,437 N280K probably damaging Het
Ppp1r3c G A 19: 36,733,465 P302S probably benign Het
Senp2 T G 16: 22,018,368 Y122* probably null Het
Slc5a7 C A 17: 54,293,017 G123* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Th C T 7: 142,895,431 R289Q probably damaging Het
Tigit C T 16: 43,662,198 V58I probably benign Het
Tldc1 T C 8: 119,762,425 D373G probably damaging Het
Ush1c C A 7: 46,198,415 V810L probably benign Het
Vmn2r120 C A 17: 57,509,008 K782N probably damaging Het
Other mutations in Pfn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Pfn4 APN 12 4775505 missense probably damaging 1.00
IGL01522:Pfn4 APN 12 4770240 missense probably benign 0.01
IGL01726:Pfn4 APN 12 4774446 missense probably benign 0.00
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 On2015-12-18