Incidental Mutation 'IGL01522:Pfn4'
ID 89451
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pfn4
Ensembl Gene ENSMUSG00000020639
Gene Name profilin family, member 4
Synonyms 2900024P18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01522
Quality Score
Status
Chromosome 12
Chromosomal Location 4819022-4828813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4820240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 30 (T30A)
Ref Sequence ENSEMBL: ENSMUSP00000136765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020967] [ENSMUST00000053458] [ENSMUST00000178879] [ENSMUST00000218199] [ENSMUST00000218575] [ENSMUST00000219438] [ENSMUST00000219503] [ENSMUST00000219898]
AlphaFold Q9D6I3
Predicted Effect probably benign
Transcript: ENSMUST00000020967
AA Change: T30A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: T30A

DomainStartEndE-ValueType
Pfam:Profilin 4 124 5.4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053458
Predicted Effect probably benign
Transcript: ENSMUST00000178879
AA Change: T30A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: T30A

DomainStartEndE-ValueType
Pfam:Profilin 5 124 9.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218199
Predicted Effect probably benign
Transcript: ENSMUST00000218575
Predicted Effect probably benign
Transcript: ENSMUST00000219438
AA Change: T30A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000219503
AA Change: T30A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000219898
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T C 15: 11,065,245 (GRCm39) probably null Het
Adamts3 T C 5: 89,850,802 (GRCm39) N579S probably benign Het
Akr1c19 A G 13: 4,289,098 (GRCm39) probably benign Het
Ankrd39 T A 1: 36,581,142 (GRCm39) H69L probably damaging Het
Apcdd1 T A 18: 63,085,186 (GRCm39) M461K possibly damaging Het
Bpifa3 G A 2: 153,979,502 (GRCm39) C209Y probably damaging Het
Cep131 T C 11: 119,957,989 (GRCm39) E779G probably benign Het
Cep85 T C 4: 133,879,566 (GRCm39) Q394R probably damaging Het
Cep85 G T 4: 133,879,567 (GRCm39) Q394K probably damaging Het
Clcn6 T C 4: 148,101,992 (GRCm39) Y364C probably benign Het
Fetub G A 16: 22,748,391 (GRCm39) M1I probably null Het
Greb1 T C 12: 16,751,202 (GRCm39) I1003V probably damaging Het
Hsf3 A G X: 95,364,200 (GRCm39) probably benign Het
Jcad A G 18: 4,673,312 (GRCm39) N358S probably damaging Het
Kndc1 T C 7: 139,493,888 (GRCm39) probably benign Het
Lama1 A T 17: 68,059,769 (GRCm39) probably benign Het
Mark2 A G 19: 7,258,603 (GRCm39) V50A probably benign Het
Mmp7 T C 9: 7,692,229 (GRCm39) W35R probably damaging Het
Ndc80 A G 17: 71,806,320 (GRCm39) V578A probably benign Het
Nfyc T C 4: 120,638,721 (GRCm39) E42G probably damaging Het
Or1j15 A G 2: 36,459,233 (GRCm39) T208A probably benign Het
Or52b4 A T 7: 102,184,391 (GRCm39) I146F probably damaging Het
Or5d37 T C 2: 87,923,360 (GRCm39) K307E possibly damaging Het
Or8g21 A T 9: 38,906,396 (GRCm39) C112S probably benign Het
Or9i16 A T 19: 13,864,722 (GRCm39) L284* probably null Het
Pcdha11 T C 18: 37,318,061 (GRCm39) F925L probably damaging Het
Pdcd1 T G 1: 93,968,571 (GRCm39) R154S probably benign Het
Pepd T A 7: 34,623,865 (GRCm39) D87E probably benign Het
Pgpep1l A G 7: 67,887,456 (GRCm39) M48T possibly damaging Het
Pla2g15 A G 8: 106,889,748 (GRCm39) N340S probably benign Het
Plcb4 A G 2: 135,844,547 (GRCm39) D155G probably damaging Het
Plg G A 17: 12,622,956 (GRCm39) G499S probably damaging Het
Plin3 C T 17: 56,587,799 (GRCm39) W305* probably null Het
Polq C A 16: 36,848,265 (GRCm39) L291I probably damaging Het
Sanbr A G 11: 23,532,865 (GRCm39) probably null Het
Sdf2l1 T A 16: 16,950,014 (GRCm39) H54L probably damaging Het
Slc38a2 C T 15: 96,590,936 (GRCm39) D276N possibly damaging Het
Syk A G 13: 52,797,097 (GRCm39) T576A probably benign Het
Tas2r119 G A 15: 32,178,339 (GRCm39) V302I probably benign Het
Uso1 T C 5: 92,329,278 (GRCm39) F389L probably damaging Het
Wwc2 T A 8: 48,321,668 (GRCm39) Y482F unknown Het
Other mutations in Pfn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Pfn4 APN 12 4,825,505 (GRCm39) missense probably damaging 1.00
IGL01726:Pfn4 APN 12 4,824,446 (GRCm39) missense probably benign 0.00
IGL02896:Pfn4 APN 12 4,825,451 (GRCm39) missense probably benign 0.02
R2082:Pfn4 UTSW 12 4,825,439 (GRCm39) splice site probably null
R2201:Pfn4 UTSW 12 4,824,382 (GRCm39) splice site probably null
R4373:Pfn4 UTSW 12 4,820,182 (GRCm39) missense probably damaging 0.99
R4376:Pfn4 UTSW 12 4,820,182 (GRCm39) missense probably damaging 0.99
R4377:Pfn4 UTSW 12 4,820,182 (GRCm39) missense probably damaging 0.99
R4692:Pfn4 UTSW 12 4,824,486 (GRCm39) missense probably damaging 1.00
R6762:Pfn4 UTSW 12 4,825,487 (GRCm39) missense probably damaging 1.00
R7711:Pfn4 UTSW 12 4,824,414 (GRCm39) missense possibly damaging 0.77
R8125:Pfn4 UTSW 12 4,825,487 (GRCm39) missense probably damaging 1.00
R8861:Pfn4 UTSW 12 4,825,456 (GRCm39) missense probably benign 0.03
R9300:Pfn4 UTSW 12 4,825,442 (GRCm39) missense possibly damaging 0.54
Posted On 2013-12-03