Incidental Mutation 'IGL00927:Fmnl3'
ID 29065
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00927
Quality Score
Status
Chromosome 15
Chromosomal Location 99215106-99268363 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 99235509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081224] [ENSMUST00000088233] [ENSMUST00000088233] [ENSMUST00000088233] [ENSMUST00000088233] [ENSMUST00000088233] [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: 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: 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: 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 noncoding transcript
Transcript: ENSMUST00000140368
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,674 (GRCm39) T92A probably damaging Het
Ankhd1 A G 18: 36,765,125 (GRCm39) S1007G probably benign Het
Cabp4 A T 19: 4,189,406 (GRCm39) S50R possibly damaging Het
Camp A T 9: 109,678,336 (GRCm39) L56Q probably damaging Het
Cblb A G 16: 51,986,461 (GRCm39) N568S probably benign Het
Ccr6 C A 17: 8,474,825 (GRCm39) T10K probably benign Het
Chit1 T C 1: 134,072,992 (GRCm39) F106S probably damaging Het
Cyb561d1 A G 3: 108,106,943 (GRCm39) L34P probably damaging Het
Dcun1d1 A T 3: 35,975,114 (GRCm39) probably benign Het
Deup1 A G 9: 15,521,967 (GRCm39) probably benign Het
Erich1 A G 8: 14,083,518 (GRCm39) F184S probably damaging Het
Grk2 T C 19: 4,337,982 (GRCm39) N508S probably benign Het
Herc4 A G 10: 63,109,316 (GRCm39) I184V probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ift56 T C 6: 38,359,155 (GRCm39) probably benign Het
Kif3b G A 2: 153,158,381 (GRCm39) A61T possibly damaging Het
Kmt2d G A 15: 98,742,890 (GRCm39) probably benign Het
Lrrc7 C A 3: 157,866,727 (GRCm39) V1005L possibly damaging Het
Lrrtm1 A T 6: 77,221,046 (GRCm39) M168L probably benign Het
Ndc1 C T 4: 107,241,977 (GRCm39) probably benign Het
Nphs1 A G 7: 30,160,164 (GRCm39) probably benign Het
Or52w1 A T 7: 105,018,454 (GRCm39) Y298F probably damaging Het
Pbld2 T C 10: 62,907,734 (GRCm39) V200A probably benign Het
Pcdhb21 A G 18: 37,647,606 (GRCm39) Y245C probably damaging Het
Pcm1 A G 8: 41,740,918 (GRCm39) T1055A probably damaging Het
Plcl2 C T 17: 50,913,948 (GRCm39) S319L probably benign Het
Plekha8 C A 6: 54,606,822 (GRCm39) Y372* probably null Het
Ralb T A 1: 119,399,506 (GRCm39) N184I probably benign Het
Robo3 C T 9: 37,339,050 (GRCm39) probably null Het
Slc41a1 T A 1: 131,766,914 (GRCm39) L144H probably damaging Het
Smg1 C T 7: 117,739,855 (GRCm39) G3364D probably damaging Het
Spmap2 A G 10: 79,412,433 (GRCm39) S329P probably damaging Het
Vmn1r123 T A 7: 20,896,216 (GRCm39) V36D possibly damaging Het
Zbtb7c T C 18: 76,278,921 (GRCm39) S460P possibly damaging Het
Zscan30 T C 18: 24,104,834 (GRCm39) noncoding transcript Het
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
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
C9142:Fmnl3 UTSW 15 99,235,508 (GRCm39) splice site probably null
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
Posted On 2013-04-17