Incidental Mutation 'R4692:Pfn4'
ID 354986
Institutional Source Beutler Lab
Gene Symbol Pfn4
Ensembl Gene ENSMUSG00000020639
Gene Name profilin family, member 4
Synonyms 2900024P18Rik
MMRRC Submission 041943-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4692 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 4819022-4828813 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4824486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 71 (Y71F)
Ref Sequence ENSEMBL: ENSMUSP00000151411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020967] [ENSMUST00000178879] [ENSMUST00000219438] [ENSMUST00000219503]
AlphaFold Q9D6I3
Predicted Effect probably damaging
Transcript: ENSMUST00000020967
AA Change: Y71F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: Y71F

DomainStartEndE-ValueType
Pfam:Profilin 4 124 5.4e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178879
AA Change: Y71F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: Y71F

DomainStartEndE-ValueType
Pfam:Profilin 5 124 9.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000219438
AA Change: Y71F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000219503
AA Change: Y71F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,849,882 (GRCm39) Y230* probably null Het
9230104M06Rik A T 12: 112,963,692 (GRCm39) probably benign Het
Arhgap20 A G 9: 51,697,088 (GRCm39) D53G probably damaging Het
Arl2 T C 19: 6,187,776 (GRCm39) T54A probably damaging Het
Baz2a G A 10: 127,960,762 (GRCm39) G1521S probably damaging Het
Begain A G 12: 108,999,818 (GRCm39) S523P probably damaging Het
Car10 T C 11: 93,075,984 (GRCm39) probably null Het
Cenpe A G 3: 134,922,140 (GRCm39) I66V probably benign Het
Col14a1 T A 15: 55,286,864 (GRCm39) V895E unknown Het
Coro1b T C 19: 4,199,418 (GRCm39) Y26H probably damaging Het
Crebbp T C 16: 3,932,727 (GRCm39) E1017G possibly damaging Het
Cwf19l2 T C 9: 3,428,709 (GRCm39) S232P probably damaging Het
Cyp7b1 T A 3: 18,126,728 (GRCm39) I473F probably damaging Het
Efcab5 A T 11: 77,004,507 (GRCm39) I937N probably damaging Het
Fam53c A C 18: 34,901,743 (GRCm39) E220A probably damaging Het
Gsn A G 2: 35,188,883 (GRCm39) Y434C probably damaging Het
Igkv2-137 T C 6: 67,532,971 (GRCm39) S45P possibly damaging Het
Katnip T C 7: 125,466,841 (GRCm39) probably null Het
Kif13b C A 14: 65,041,024 (GRCm39) T1704K probably benign Het
Mapk7 A G 11: 61,380,068 (GRCm39) S697P possibly damaging Het
Mrgpra1 T A 7: 46,985,446 (GRCm39) I78F probably damaging Het
N6amt1 T C 16: 87,153,854 (GRCm39) V97A possibly damaging Het
Oas3 T C 5: 120,907,420 (GRCm39) T406A probably benign Het
Or4f61 A G 2: 111,923,026 (GRCm39) S7P probably damaging Het
Or8c17 C T 9: 38,179,826 (GRCm39) Q6* probably null Het
Paxip1 T C 5: 27,977,095 (GRCm39) probably benign Het
Plin4 C A 17: 56,410,762 (GRCm39) G1090C probably damaging Het
Ptk2b C T 14: 66,394,518 (GRCm39) G859S probably benign Het
Rbl2 T A 8: 91,849,047 (GRCm39) D1084E probably damaging Het
Robo1 T G 16: 72,757,090 (GRCm39) S350R probably damaging Het
Sbno2 A G 10: 79,922,161 (GRCm39) V4A possibly damaging Het
Sh3rf1 T C 8: 61,806,888 (GRCm39) probably null Het
Smgc T C 15: 91,738,764 (GRCm39) V474A possibly damaging Het
Snx13 A G 12: 35,136,917 (GRCm39) D126G possibly damaging Het
Sox9 C A 11: 112,673,803 (GRCm39) H131Q probably benign Het
Spag6 T C 2: 18,704,054 (GRCm39) I34T probably benign Het
Speer2 T A 16: 69,654,860 (GRCm39) T202S possibly damaging Het
Sspo T A 6: 48,459,621 (GRCm39) C3327S probably damaging Het
Vcpip1 G T 1: 9,818,299 (GRCm39) A28E unknown Het
Vstm5 A T 9: 15,168,718 (GRCm39) D94V probably damaging Het
Zfp329 T C 7: 12,544,559 (GRCm39) K322E probably damaging Het
Zfp932 G A 5: 110,157,052 (GRCm39) G250D probably damaging Het
Zscan26 A G 13: 21,629,427 (GRCm39) C359R probably damaging Het
Other mutations in Pfn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Pfn4 APN 12 4,825,505 (GRCm39) missense probably damaging 1.00
IGL01522:Pfn4 APN 12 4,820,240 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GTGAACCCAGTCCCAGCC -3'
(R):5'- TGAGTATTTTCAGATACGCCTTCCTG -3'

Sequencing Primer
(F):5'- CAGCCCTCGGTGTGTGTG -3'
(R):5'- AGGCTGCTATCTGAATGACTC -3'
Posted On 2015-10-21