Incidental Mutation 'C9142:Fmnl3'
ID 163
Institutional Source Beutler Lab
Gene Symbol Fmnl3
Ensembl Gene ENSMUSG00000023008
Gene Name formin-like 3
Synonyms 2700073B04Rik, Wbp3
Accession Numbers
Essential gene? Possibly essential (E-score: 0.706) question?
Stock # C9142 (G3) of strain Muskatenwein
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 99215106-99268363 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to C at 99235508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081224] [ENSMUST00000081224] [ENSMUST00000088233] [ENSMUST00000088233] [ENSMUST00000120633] [ENSMUST00000120633]
AlphaFold Q6ZPF4
Predicted Effect probably null
Transcript: ENSMUST00000081224
SMART Domains Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008

DomainStartEndE-ValueType
Drf_GBD 26 227 2.99e-88 SMART
Drf_FH3 230 421 6.1e-71 SMART
low complexity region 448 497 N/A INTRINSIC
FH2 510 944 9.85e-141 SMART
low complexity region 960 975 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000081224
SMART Domains Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008

DomainStartEndE-ValueType
Drf_GBD 26 227 2.99e-88 SMART
Drf_FH3 230 421 6.1e-71 SMART
low complexity region 448 497 N/A INTRINSIC
FH2 510 944 9.85e-141 SMART
low complexity region 960 975 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000088233
SMART Domains Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008

DomainStartEndE-ValueType
Drf_GBD 26 278 3.91e-92 SMART
Drf_FH3 281 472 6.1e-71 SMART
low complexity region 499 548 N/A INTRINSIC
FH2 561 995 9.85e-141 SMART
Predicted Effect probably null
Transcript: ENSMUST00000088233
SMART Domains Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008

DomainStartEndE-ValueType
Drf_GBD 26 278 3.91e-92 SMART
Drf_FH3 281 472 6.1e-71 SMART
low complexity region 499 548 N/A INTRINSIC
FH2 561 995 9.85e-141 SMART
Predicted Effect probably null
Transcript: ENSMUST00000120633
SMART Domains Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008

DomainStartEndE-ValueType
Drf_GBD 26 278 3.91e-92 SMART
Drf_FH3 281 472 6.1e-71 SMART
low complexity region 499 548 N/A INTRINSIC
FH2 561 995 9.85e-141 SMART
low complexity region 1011 1026 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000120633
SMART Domains Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008

DomainStartEndE-ValueType
Drf_GBD 26 278 3.91e-92 SMART
Drf_FH3 281 472 6.1e-71 SMART
low complexity region 499 548 N/A INTRINSIC
FH2 561 995 9.85e-141 SMART
low complexity region 1011 1026 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140368
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 84.8%
  • 3x: 59.3%
Validation Efficiency 82% (72/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp A G 2: 168,026,327 (GRCm39) S323P probably damaging Het
Cc2d2a A G 5: 43,892,799 (GRCm39) probably benign Homo
Chrm5 A G 2: 112,310,556 (GRCm39) F187L probably damaging Het
Klf7 C T 1: 64,118,316 (GRCm39) A94T possibly damaging Het
Nf1 C T 11: 79,447,557 (GRCm39) R2433C probably damaging Het
Pdlim3 A T 8: 46,349,869 (GRCm39) M60L probably benign Het
Vwde T C 6: 13,168,053 (GRCm39) probably benign Homo
Other mutations in Fmnl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Fmnl3 APN 15 99,220,551 (GRCm39) missense probably damaging 1.00
IGL00672:Fmnl3 APN 15 99,223,562 (GRCm39) missense probably damaging 1.00
IGL00727:Fmnl3 APN 15 99,220,551 (GRCm39) missense probably damaging 1.00
IGL00754:Fmnl3 APN 15 99,220,551 (GRCm39) missense probably damaging 1.00
IGL00927:Fmnl3 APN 15 99,235,509 (GRCm39) critical splice donor site probably null
IGL02376:Fmnl3 APN 15 99,216,844 (GRCm39) missense possibly damaging 0.51
IGL02607:Fmnl3 APN 15 99,222,653 (GRCm39) missense probably damaging 1.00
IGL03323:Fmnl3 APN 15 99,219,162 (GRCm39) missense probably damaging 1.00
PIT4280001:Fmnl3 UTSW 15 99,219,134 (GRCm39) critical splice donor site probably null
R0003:Fmnl3 UTSW 15 99,219,013 (GRCm39) missense probably damaging 0.99
R0003:Fmnl3 UTSW 15 99,219,013 (GRCm39) missense probably damaging 0.99
R0116:Fmnl3 UTSW 15 99,220,619 (GRCm39) splice site probably benign
R0117:Fmnl3 UTSW 15 99,220,619 (GRCm39) splice site probably benign
R0137:Fmnl3 UTSW 15 99,220,619 (GRCm39) splice site probably benign
R0138:Fmnl3 UTSW 15 99,220,619 (GRCm39) splice site probably benign
R0701:Fmnl3 UTSW 15 99,219,188 (GRCm39) missense probably damaging 0.99
R2338:Fmnl3 UTSW 15 99,268,108 (GRCm39) missense probably benign 0.01
R3729:Fmnl3 UTSW 15 99,219,745 (GRCm39) missense probably damaging 0.99
R4707:Fmnl3 UTSW 15 99,221,362 (GRCm39) missense probably benign 0.00
R5346:Fmnl3 UTSW 15 99,229,871 (GRCm39) missense probably damaging 1.00
R5655:Fmnl3 UTSW 15 99,219,743 (GRCm39) missense probably damaging 0.99
R5916:Fmnl3 UTSW 15 99,219,709 (GRCm39) missense probably damaging 0.99
R5951:Fmnl3 UTSW 15 99,223,791 (GRCm39) missense probably damaging 1.00
R5954:Fmnl3 UTSW 15 99,223,791 (GRCm39) missense probably damaging 1.00
R5957:Fmnl3 UTSW 15 99,223,791 (GRCm39) missense probably damaging 1.00
R6334:Fmnl3 UTSW 15 99,235,534 (GRCm39) missense probably damaging 1.00
R6891:Fmnl3 UTSW 15 99,223,754 (GRCm39) missense probably damaging 1.00
R7182:Fmnl3 UTSW 15 99,219,663 (GRCm39) missense probably damaging 0.99
R7423:Fmnl3 UTSW 15 99,227,281 (GRCm39) missense probably damaging 0.99
R7952:Fmnl3 UTSW 15 99,220,518 (GRCm39) missense probably damaging 0.97
R7977:Fmnl3 UTSW 15 99,225,979 (GRCm39) missense possibly damaging 0.89
R7987:Fmnl3 UTSW 15 99,225,979 (GRCm39) missense possibly damaging 0.89
R8749:Fmnl3 UTSW 15 99,219,322 (GRCm39) missense possibly damaging 0.88
R9397:Fmnl3 UTSW 15 99,225,938 (GRCm39) critical splice donor site probably null
R9598:Fmnl3 UTSW 15 99,223,210 (GRCm39) missense probably damaging 1.00
X0009:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0010:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0011:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0012:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0014:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0017:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0021:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0023:Fmnl3 UTSW 15 99,223,165 (GRCm39) missense probably damaging 1.00
X0023:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0028:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0033:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0060:Fmnl3 UTSW 15 99,217,919 (GRCm39) missense possibly damaging 0.69
X0064:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0067:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at base pair 99168058 in the Genbank genomic region NC_000081 (Build 37.1) for the Fmnl3 gene on Chromosome 15 (GTATGAGCTT ->GTGTGAGCTT). The mutation is located within intron 2, three nucleotides from the previous exon 2 (from the ATG exon). The Fmnl3 transcript contains 27 total exons. Multiple transcripts of the Fmnl3 gene are displayed on Ensembl. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction
The Fmnl3 gene encodes a 1028 amino acid protein that contains a forming homology 2 (FH2) domain at amino acids 561 to 995 (SMART).  FH proteins control rearrangements of the actin cytoskeletonhave been found to interact with Rho-GTPases, profilin and other actin-associated proteins. These interactions are mediated by the proline-rich FH1 domain, usually located in front of the FH2 domain (Uniprot Q8K364).   
Posted On 2010-04-08