Incidental Mutation 'IGL02151:Fmnl1'
ID 282029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmnl1
Ensembl Gene ENSMUSG00000055805
Gene Name formin-like 1
Synonyms formin-related gene in leukocytes, 8030453N10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.173) question?
Stock # IGL02151
Quality Score
Status
Chromosome 11
Chromosomal Location 103171107-103198901 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103192772 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 441 (T441A)
Ref Sequence ENSEMBL: ENSMUSP00000046296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042286] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000218163]
AlphaFold Q9JL26
Predicted Effect noncoding transcript
Transcript: ENSMUST00000021322
Predicted Effect probably benign
Transcript: ENSMUST00000042286
AA Change: T441A

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: T441A

DomainStartEndE-ValueType
Drf_GBD 27 280 1.04e-87 SMART
Drf_FH3 283 632 2.29e-75 SMART
FH2 627 1057 4.35e-142 SMART
low complexity region 1074 1087 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107027
AA Change: T441A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: T441A

DomainStartEndE-ValueType
Drf_GBD 27 280 1.04e-87 SMART
Drf_FH3 283 632 2.29e-75 SMART
FH2 627 1057 4.35e-142 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126425
Predicted Effect probably benign
Transcript: ENSMUST00000129726
SMART Domains Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805

DomainStartEndE-ValueType
Pfam:FH2 1 50 8.2e-10 PFAM
low complexity region 124 139 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174079
Predicted Effect probably benign
Transcript: ENSMUST00000218163
AA Change: T447A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Constitutive homozygous KO is embryonic lethal. Conditional homozygous KO in myeloid cells leads to reduced macrophage migration and podosome formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007G11Rik C T 5: 98,329,442 T24M probably damaging Het
Adgra3 G T 5: 49,979,142 T667N probably benign Het
Aff4 T C 11: 53,399,806 I531T probably benign Het
Akap9 C T 5: 4,032,728 Q1951* probably null Het
Arhgef10 C T 8: 14,928,889 T52M possibly damaging Het
Atg2a A G 19: 6,255,757 E1132G possibly damaging Het
AW551984 A C 9: 39,592,945 I575S probably benign Het
Cog7 T C 7: 121,943,808 E460G probably damaging Het
Ctse A G 1: 131,672,535 I341V probably benign Het
Dcpp1 A T 17: 23,882,594 I106L possibly damaging Het
Dcxr T A 11: 120,725,983 M158L probably benign Het
Dnah11 A T 12: 118,059,888 probably benign Het
Dnah7a T A 1: 53,472,864 I3013F probably benign Het
Dnah8 A G 17: 30,648,417 D281G possibly damaging Het
Dpysl3 G A 18: 43,358,300 H136Y probably damaging Het
Eaf1 C T 14: 31,497,787 T61M probably damaging Het
Gm6169 T A 13: 97,099,174 T22S probably null Het
Hmgcll1 C T 9: 76,081,438 P197L probably benign Het
Kdm4b T C 17: 56,396,234 V643A probably benign Het
Lrch2 A G X: 147,553,720 F111L possibly damaging Het
Macf1 A T 4: 123,371,766 probably benign Het
Mfsd4b2 T C 10: 39,921,691 N223D probably damaging Het
Mug1 G A 6: 121,884,690 probably null Het
Nek7 A T 1: 138,487,100 L270Q probably damaging Het
Nexn T A 3: 152,248,244 D127V probably damaging Het
Nxf3 A G X: 136,079,573 F130S probably damaging Het
Olfr655 A G 7: 104,596,534 S216P probably damaging Het
Olfr96 T A 17: 37,225,166 F14I probably damaging Het
Pcdhb16 G A 18: 37,478,358 V124I possibly damaging Het
Podxl T C 6: 31,524,459 D387G possibly damaging Het
Rab3d C A 9: 21,915,724 R70M probably damaging Het
Ripk2 A T 4: 16,139,240 M219K possibly damaging Het
Rnf146 A G 10: 29,347,353 V179A probably damaging Het
Robo1 G T 16: 72,989,616 V839L probably benign Het
Rttn T A 18: 89,020,205 N808K probably damaging Het
Slc12a3 T G 8: 94,348,592 V738G probably benign Het
Slc26a3 T C 12: 31,447,831 V78A probably damaging Het
Slc26a9 G A 1: 131,764,043 V675M probably damaging Het
Sncb T A 13: 54,762,696 I76F probably benign Het
Stat4 G A 1: 52,013,870 R70H probably damaging Het
Tle6 T C 10: 81,598,640 M42V probably benign Het
Tmem67 T C 4: 12,068,882 T439A probably benign Het
Ugt2b35 C A 5: 87,003,282 T249K possibly damaging Het
Vmn1r231 C T 17: 20,889,735 R306K probably benign Het
Vmn1r42 A T 6: 89,845,041 I182N possibly damaging Het
Zfhx3 T C 8: 108,793,883 S546P probably damaging Het
Zic3 G T X: 58,031,539 probably null Het
Other mutations in Fmnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Fmnl1 APN 11 103197340 nonsense probably null
IGL00972:Fmnl1 APN 11 103180955 missense probably damaging 1.00
IGL01406:Fmnl1 APN 11 103194690 unclassified probably benign
IGL01417:Fmnl1 APN 11 103196694 unclassified probably benign
IGL01599:Fmnl1 APN 11 103186656 missense probably damaging 1.00
IGL02324:Fmnl1 APN 11 103179538 missense probably damaging 1.00
IGL02812:Fmnl1 APN 11 103196766 unclassified probably benign
IGL03369:Fmnl1 APN 11 103197182 splice site probably null
archetypal UTSW 11 103186627 missense probably damaging 1.00
contractual UTSW 11 103180915 missense probably damaging 1.00
stylistic UTSW 11 103193736 critical splice donor site probably null
R0077:Fmnl1 UTSW 11 103189969 missense probably damaging 1.00
R0241:Fmnl1 UTSW 11 103182170 critical splice donor site probably null
R0241:Fmnl1 UTSW 11 103182170 critical splice donor site probably null
R0413:Fmnl1 UTSW 11 103194063 splice site probably benign
R1170:Fmnl1 UTSW 11 103197370 missense probably benign 0.02
R1389:Fmnl1 UTSW 11 103186709 splice site probably null
R1794:Fmnl1 UTSW 11 103197147 missense probably benign 0.00
R2082:Fmnl1 UTSW 11 103192025 missense probably damaging 1.00
R2105:Fmnl1 UTSW 11 103194692 missense probably benign 0.39
R3611:Fmnl1 UTSW 11 103194765 unclassified probably benign
R3883:Fmnl1 UTSW 11 103182114 missense probably damaging 1.00
R3893:Fmnl1 UTSW 11 103196757 unclassified probably benign
R4658:Fmnl1 UTSW 11 103197694 missense probably damaging 1.00
R4689:Fmnl1 UTSW 11 103193736 critical splice donor site probably null
R4812:Fmnl1 UTSW 11 103198564 unclassified probably benign
R4996:Fmnl1 UTSW 11 103182656 missense possibly damaging 0.58
R5646:Fmnl1 UTSW 11 103196512 unclassified probably benign
R5702:Fmnl1 UTSW 11 103185665 missense probably damaging 1.00
R5850:Fmnl1 UTSW 11 103195285 unclassified probably benign
R5903:Fmnl1 UTSW 11 103171444 splice site probably null
R6254:Fmnl1 UTSW 11 103196315 unclassified probably benign
R6958:Fmnl1 UTSW 11 103171314 start codon destroyed probably null 1.00
R7030:Fmnl1 UTSW 11 103194774 unclassified probably benign
R7133:Fmnl1 UTSW 11 103181784 critical splice donor site probably null
R7171:Fmnl1 UTSW 11 103190398 missense probably damaging 1.00
R7224:Fmnl1 UTSW 11 103182769 critical splice donor site probably null
R7282:Fmnl1 UTSW 11 103196265 missense unknown
R7448:Fmnl1 UTSW 11 103186627 missense probably damaging 1.00
R7463:Fmnl1 UTSW 11 103193128 missense probably damaging 1.00
R7831:Fmnl1 UTSW 11 103198173 missense unknown
R7862:Fmnl1 UTSW 11 103180930 missense probably damaging 1.00
R7973:Fmnl1 UTSW 11 103171158 start gained probably benign
R8177:Fmnl1 UTSW 11 103189959 missense probably damaging 0.98
R8273:Fmnl1 UTSW 11 103186699 missense probably damaging 1.00
R8345:Fmnl1 UTSW 11 103186614 missense possibly damaging 0.88
R8507:Fmnl1 UTSW 11 103194033 missense unknown
R8921:Fmnl1 UTSW 11 103197141 missense unknown
R8946:Fmnl1 UTSW 11 103180915 missense probably damaging 1.00
R8968:Fmnl1 UTSW 11 103186618 small deletion probably benign
R9114:Fmnl1 UTSW 11 103196501 missense unknown
R9696:Fmnl1 UTSW 11 103195471 missense unknown
Posted On 2015-04-16