Incidental Mutation 'R4373:Pfn4'
ID 326071
Institutional Source Beutler Lab
Gene Symbol Pfn4
Ensembl Gene ENSMUSG00000020639
Gene Name profilin family, member 4
Synonyms
MMRRC Submission 041675-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R4373 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 4769022-4778813 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4770182 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 10 (D10E)
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 damaging
Transcript: ENSMUST00000020967
AA Change: D10E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: D10E

DomainStartEndE-ValueType
Pfam:Profilin 4 124 5.4e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000053458
Predicted Effect probably damaging
Transcript: ENSMUST00000178879
AA Change: D10E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: D10E

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 damaging
Transcript: ENSMUST00000219438
AA Change: D10E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000219503
AA Change: D10E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000219898
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A T 11: 23,615,265 probably null Het
3632451O06Rik T A 14: 49,770,436 T527S probably damaging Het
Adck5 A G 15: 76,594,335 probably benign Het
Akr1b3 A C 6: 34,304,267 probably benign Het
Asns A T 6: 7,677,978 S367T probably damaging Het
BC034090 T C 1: 155,226,158 N120S probably benign Het
Bub1 A T 2: 127,805,236 probably benign Het
Csf1 T A 3: 107,756,739 T38S probably damaging Het
Ctsz T C 2: 174,428,585 E268G possibly damaging Het
Dach1 G A 14: 97,827,750 T685I possibly damaging Het
Dclre1a A G 19: 56,545,442 L240S probably benign Het
Ercc1 G A 7: 19,347,132 probably benign Het
Esam C T 9: 37,534,196 T71I probably benign Het
Espl1 A G 15: 102,312,989 I944V probably damaging Het
Gde1 A G 7: 118,698,558 L35P possibly damaging Het
Gm10382 A G 5: 125,389,583 probably benign Het
H2-M10.6 T C 17: 36,813,066 Y141H probably damaging Het
Hk1 C A 10: 62,315,540 K10N probably damaging Het
Lamc3 A G 2: 31,898,232 K135E probably damaging Het
Lrtm2 A G 6: 119,320,528 F184S probably damaging Het
March11 A G 15: 26,309,446 E62G probably damaging Het
Mtcl1 T A 17: 66,380,079 T611S probably benign Het
Myc A T 15: 61,989,664 H373L probably damaging Het
Myh6 T A 14: 54,962,108 I249F probably damaging Het
Naaa T C 5: 92,278,143 probably benign Het
Nfib A G 4: 82,323,658 V432A probably damaging Het
Nmt1 A G 11: 103,043,200 K55R probably damaging Het
Olfr1228 T C 2: 89,249,245 R150G possibly damaging Het
Opa3 C T 7: 19,244,774 R55W probably damaging Het
Pld5 T A 1: 176,140,017 I91F probably damaging Het
Plec A C 15: 76,183,117 S1350A probably damaging Het
Polq G T 16: 37,013,181 V79F probably damaging Het
Ppp1r16b T C 2: 158,761,765 Y537H probably damaging Het
Prdm8 T C 5: 98,186,508 S645P probably damaging Het
Rgs1 T C 1: 144,247,906 T94A probably benign Het
Rpl11 G A 4: 136,051,143 probably benign Het
Scamp3 G A 3: 89,181,927 probably null Het
Sgsm1 TTTTATATT TTT 5: 113,258,123 probably benign Het
Sirpb1b A T 3: 15,548,761 I87K probably damaging Het
Slc14a2 G A 18: 78,207,068 R62C probably damaging Het
Stat4 T C 1: 52,071,941 probably null Het
Tex9 A T 9: 72,480,595 probably null Het
Tsku T C 7: 98,352,831 T98A probably benign Het
Ttc23l CT CTTGGATT 15: 10,537,562 probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r116 A C 17: 23,401,421 I710L probably benign Het
Vmn2r16 A T 5: 109,363,801 I625F probably damaging Het
Xpo4 G A 14: 57,591,022 Q794* probably null Het
Zfp112 T A 7: 24,125,048 I147N probably damaging Het
Zmiz1 T C 14: 25,636,010 S140P 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
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
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
R8861:Pfn4 UTSW 12 4775456 missense probably benign 0.03
R9300:Pfn4 UTSW 12 4775442 missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- TCCCCTCTGAGTACTGGTGAAC -3'
(R):5'- TCTGACATTGTTGAAACATGTTCGG -3'

Sequencing Primer
(F):5'- TGAACCCTGGATGATGGACCAC -3'
(R):5'- CGGATGTTACATAGCTTACAACAC -3'
Posted On 2015-07-06