Incidental Mutation 'R4658:Fmnl1'
ID 352617
Institutional Source Beutler Lab
Gene Symbol Fmnl1
Ensembl Gene ENSMUSG00000055805
Gene Name formin-like 1
Synonyms formin-related gene in leukocytes, 8030453N10Rik
MMRRC Submission 041918-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R4658 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 103061933-103089727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103088520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 90 (I90F)
Ref Sequence ENSEMBL: ENSMUSP00000133299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000218163] [ENSMUST00000172850] [ENSMUST00000174567]
AlphaFold Q9JL26
Predicted Effect noncoding transcript
Transcript: ENSMUST00000021322
Predicted Effect probably benign
Transcript: ENSMUST00000021323
SMART Domains Protein: ENSMUSP00000021323
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
EFh 109 137 7.23e1 SMART
EFh 145 173 6.68e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000042286
AA Change: I1033F
SMART Domains Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: I1033F

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: ENSMUST00000107026
SMART Domains Protein: ENSMUSP00000102641
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
EFh 40 68 7.23e1 SMART
EFh 76 104 6.68e-1 SMART
Predicted Effect unknown
Transcript: ENSMUST00000107027
AA Change: I1033F
SMART Domains Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: I1033F

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 probably damaging
Transcript: ENSMUST00000129726
AA Change: I90F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805
AA Change: I90F

DomainStartEndE-ValueType
Pfam:FH2 1 50 8.2e-10 PFAM
low complexity region 124 139 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174079
Predicted Effect unknown
Transcript: ENSMUST00000218163
AA Change: I1039F
Predicted Effect probably benign
Transcript: ENSMUST00000172850
SMART Domains Protein: ENSMUSP00000139837
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
EFh 109 137 3.5e-1 SMART
EFh 145 173 3.2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174567
SMART Domains Protein: ENSMUSP00000134292
Gene: ENSMUSG00000020940

DomainStartEndE-ValueType
SCOP:d1mr8a_ 153 209 5e-8 SMART
Blast:EFh 159 187 4e-12 BLAST
Meta Mutation Damage Score 0.2481 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 99% (88/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,338,625 (GRCm39) R778S probably damaging Het
Adam17 A G 12: 21,382,161 (GRCm39) C567R probably damaging Het
Ankrd28 G A 14: 31,432,825 (GRCm39) A758V probably damaging Het
Atrn T C 2: 130,775,349 (GRCm39) Y151H probably damaging Het
B3gat3 A G 19: 8,902,996 (GRCm39) T118A possibly damaging Het
Camta1 A G 4: 151,228,367 (GRCm39) C822R probably damaging Het
Capn15 G T 17: 26,179,742 (GRCm39) Q807K probably benign Het
Clec12a T C 6: 129,331,493 (GRCm39) Y145H probably damaging Het
Clk1 T C 1: 58,452,146 (GRCm39) I393V probably benign Het
Cpm A G 10: 117,503,956 (GRCm39) I121V probably benign Het
Cux1 A G 5: 136,279,448 (GRCm39) I405T possibly damaging Het
Dnah3 A G 7: 119,549,874 (GRCm39) S3471P probably damaging Het
Dok6 A G 18: 89,491,971 (GRCm39) probably benign Het
Eif4g1 A T 16: 20,504,684 (GRCm39) D1124V possibly damaging Het
Eif4g3 A G 4: 137,933,443 (GRCm39) E1756G probably damaging Het
Exo5 A G 4: 120,779,748 (GRCm39) V39A probably benign Het
Fryl G T 5: 73,238,396 (GRCm39) T1450K probably damaging Het
Gde1 T C 7: 118,293,751 (GRCm39) M91V probably benign Het
Gimd1 T C 3: 132,350,343 (GRCm39) I84T probably damaging Het
Gm13889 C T 2: 93,787,453 (GRCm39) probably benign Het
Gm6445 T A 19: 9,585,561 (GRCm39) noncoding transcript Het
Gm8113 T C 14: 44,169,867 (GRCm39) S483P probably damaging Het
Grik2 T C 10: 49,399,888 (GRCm39) I281V possibly damaging Het
Grik5 T C 7: 24,760,152 (GRCm39) probably benign Het
Herc1 A T 9: 66,386,773 (GRCm39) I3796F possibly damaging Het
Hoxb13 A T 11: 96,085,309 (GRCm39) D14V probably benign Het
Hspg2 A G 4: 137,261,041 (GRCm39) Y1645C probably damaging Het
Igkv8-16 G T 6: 70,363,762 (GRCm39) R87S probably damaging Het
Ints1 A T 5: 139,760,054 (GRCm39) V140E possibly damaging Het
Kbtbd11 C A 8: 15,078,917 (GRCm39) D505E possibly damaging Het
Kcnu1 G A 8: 26,427,583 (GRCm39) C300Y probably damaging Het
Kmt2d G C 15: 98,750,410 (GRCm39) probably benign Het
Lats1 T C 10: 7,578,493 (GRCm39) V539A probably benign Het
Lipo5 C T 19: 33,441,922 (GRCm39) G200D unknown Het
Lmo7 C A 14: 102,124,393 (GRCm39) A284D probably damaging Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mcpt8 T C 14: 56,321,285 (GRCm39) M60V possibly damaging Het
Mdn1 A G 4: 32,730,749 (GRCm39) probably null Het
Mphosph10 A G 7: 64,038,722 (GRCm39) probably null Het
Muc5b G A 7: 141,395,135 (GRCm39) S47N unknown Het
Notch3 A T 17: 32,373,737 (GRCm39) N490K probably damaging Het
Nr1d1 G A 11: 98,662,738 (GRCm39) S85L possibly damaging Het
Obscn T A 11: 58,945,114 (GRCm39) R4635* probably null Het
Or10al5 G T 17: 38,063,054 (GRCm39) C103F probably damaging Het
Or13f5 T C 4: 52,826,240 (GRCm39) L281P probably damaging Het
Or9i16 T C 19: 13,864,912 (GRCm39) I221V probably benign Het
Pappa G A 4: 65,233,033 (GRCm39) probably null Het
Pcdhb17 G A 18: 37,619,652 (GRCm39) G481S probably damaging Het
Pde1a TCC TC 2: 79,728,525 (GRCm39) probably benign Het
Phf3 A T 1: 30,902,169 (GRCm39) M48K probably damaging Het
Pira2 A T 7: 3,843,933 (GRCm39) V613E probably damaging Het
Poc1a T C 9: 106,226,887 (GRCm39) S327P possibly damaging Het
Ptpn9 A G 9: 56,927,321 (GRCm39) H66R probably benign Het
Rabgap1 C T 2: 37,377,561 (GRCm39) R353* probably null Het
Rcc1l G T 5: 134,200,729 (GRCm39) N134K probably damaging Het
Rims1 G A 1: 22,497,793 (GRCm39) T787I probably damaging Het
Rreb1 T G 13: 38,132,777 (GRCm39) S1651A probably damaging Het
Rsl1d1 T C 16: 11,019,238 (GRCm39) D100G probably damaging Het
Samd4 C T 14: 47,301,703 (GRCm39) R147C probably damaging Het
Serpinb6e T C 13: 34,025,299 (GRCm39) probably benign Het
Ska1 T C 18: 74,330,111 (GRCm39) I210V probably benign Het
Slc17a1 A G 13: 24,062,543 (GRCm39) I237V probably benign Het
Slc22a4 A T 11: 53,888,336 (GRCm39) S231T probably benign Het
Slc7a4 T A 16: 17,393,797 (GRCm39) M66L probably damaging Het
Snapc1 A G 12: 74,030,642 (GRCm39) T381A possibly damaging Het
St6galnac2 C T 11: 116,575,351 (GRCm39) probably benign Het
Taar2 C T 10: 23,817,401 (GRCm39) L314F probably benign Het
Tmem74b A G 2: 151,548,561 (GRCm39) D96G probably damaging Het
Tnfrsf17 T C 16: 11,131,833 (GRCm39) F6S probably benign Het
Tpp2 G T 1: 43,993,870 (GRCm39) G252W probably damaging Het
Trf A G 9: 103,100,807 (GRCm39) F209L probably damaging Het
Ttn T C 2: 76,728,935 (GRCm39) probably benign Het
Uhmk1 A T 1: 170,034,774 (GRCm39) H311Q probably damaging Het
Unc13c G T 9: 73,840,108 (GRCm39) Q248K probably damaging Het
Uqcrc2 A G 7: 120,250,144 (GRCm39) Y253C probably damaging Het
Vmn2r117 A G 17: 23,697,390 (GRCm39) F101L probably benign Het
Vmn2r43 T C 7: 8,258,070 (GRCm39) N381S probably benign Het
Zfp879 T A 11: 50,724,024 (GRCm39) Y271F probably damaging Het
Other mutations in Fmnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Fmnl1 APN 11 103,088,166 (GRCm39) nonsense probably null
IGL00972:Fmnl1 APN 11 103,071,781 (GRCm39) missense probably damaging 1.00
IGL01406:Fmnl1 APN 11 103,085,516 (GRCm39) unclassified probably benign
IGL01417:Fmnl1 APN 11 103,087,520 (GRCm39) unclassified probably benign
IGL01599:Fmnl1 APN 11 103,077,482 (GRCm39) missense probably damaging 1.00
IGL02151:Fmnl1 APN 11 103,083,598 (GRCm39) missense probably benign 0.38
IGL02324:Fmnl1 APN 11 103,070,364 (GRCm39) missense probably damaging 1.00
IGL02812:Fmnl1 APN 11 103,087,592 (GRCm39) unclassified probably benign
IGL03369:Fmnl1 APN 11 103,088,008 (GRCm39) splice site probably null
archetypal UTSW 11 103,077,453 (GRCm39) missense probably damaging 1.00
contractual UTSW 11 103,071,741 (GRCm39) missense probably damaging 1.00
stylistic UTSW 11 103,084,562 (GRCm39) critical splice donor site probably null
R0077:Fmnl1 UTSW 11 103,080,795 (GRCm39) missense probably damaging 1.00
R0241:Fmnl1 UTSW 11 103,072,996 (GRCm39) critical splice donor site probably null
R0241:Fmnl1 UTSW 11 103,072,996 (GRCm39) critical splice donor site probably null
R0413:Fmnl1 UTSW 11 103,084,889 (GRCm39) splice site probably benign
R1170:Fmnl1 UTSW 11 103,088,196 (GRCm39) missense probably benign 0.02
R1389:Fmnl1 UTSW 11 103,077,535 (GRCm39) splice site probably null
R1794:Fmnl1 UTSW 11 103,087,973 (GRCm39) missense probably benign 0.00
R2082:Fmnl1 UTSW 11 103,082,851 (GRCm39) missense probably damaging 1.00
R2105:Fmnl1 UTSW 11 103,085,518 (GRCm39) missense probably benign 0.39
R3611:Fmnl1 UTSW 11 103,085,591 (GRCm39) unclassified probably benign
R3883:Fmnl1 UTSW 11 103,072,940 (GRCm39) missense probably damaging 1.00
R3893:Fmnl1 UTSW 11 103,087,583 (GRCm39) unclassified probably benign
R4689:Fmnl1 UTSW 11 103,084,562 (GRCm39) critical splice donor site probably null
R4812:Fmnl1 UTSW 11 103,089,390 (GRCm39) unclassified probably benign
R4996:Fmnl1 UTSW 11 103,073,482 (GRCm39) missense possibly damaging 0.58
R5646:Fmnl1 UTSW 11 103,087,338 (GRCm39) unclassified probably benign
R5702:Fmnl1 UTSW 11 103,076,491 (GRCm39) missense probably damaging 1.00
R5850:Fmnl1 UTSW 11 103,086,111 (GRCm39) unclassified probably benign
R5903:Fmnl1 UTSW 11 103,062,270 (GRCm39) splice site probably null
R6254:Fmnl1 UTSW 11 103,087,141 (GRCm39) unclassified probably benign
R6958:Fmnl1 UTSW 11 103,062,140 (GRCm39) start codon destroyed probably null 1.00
R7030:Fmnl1 UTSW 11 103,085,600 (GRCm39) unclassified probably benign
R7133:Fmnl1 UTSW 11 103,072,610 (GRCm39) critical splice donor site probably null
R7171:Fmnl1 UTSW 11 103,081,224 (GRCm39) missense probably damaging 1.00
R7224:Fmnl1 UTSW 11 103,073,595 (GRCm39) critical splice donor site probably null
R7282:Fmnl1 UTSW 11 103,087,091 (GRCm39) missense unknown
R7448:Fmnl1 UTSW 11 103,077,453 (GRCm39) missense probably damaging 1.00
R7463:Fmnl1 UTSW 11 103,083,954 (GRCm39) missense probably damaging 1.00
R7831:Fmnl1 UTSW 11 103,088,999 (GRCm39) missense unknown
R7862:Fmnl1 UTSW 11 103,071,756 (GRCm39) missense probably damaging 1.00
R7973:Fmnl1 UTSW 11 103,061,984 (GRCm39) start gained probably benign
R8177:Fmnl1 UTSW 11 103,080,785 (GRCm39) missense probably damaging 0.98
R8273:Fmnl1 UTSW 11 103,077,525 (GRCm39) missense probably damaging 1.00
R8345:Fmnl1 UTSW 11 103,077,440 (GRCm39) missense possibly damaging 0.88
R8507:Fmnl1 UTSW 11 103,084,859 (GRCm39) missense unknown
R8921:Fmnl1 UTSW 11 103,087,967 (GRCm39) missense unknown
R8946:Fmnl1 UTSW 11 103,071,741 (GRCm39) missense probably damaging 1.00
R8968:Fmnl1 UTSW 11 103,077,444 (GRCm39) small deletion probably benign
R9114:Fmnl1 UTSW 11 103,087,327 (GRCm39) missense unknown
R9696:Fmnl1 UTSW 11 103,086,297 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTCTGCCCAGAGACAAGGAC -3'
(R):5'- TCAGCACTGAGGTTTTGAGGAATAG -3'

Sequencing Primer
(F):5'- GAGACAAGGACAGTGCCCC -3'
(R):5'- ACCAGGCATCTTGGCATATG -3'
Posted On 2015-10-08