Incidental Mutation 'R8345:Fmnl1'
ID 645188
Institutional Source Beutler Lab
Gene Symbol Fmnl1
Ensembl Gene ENSMUSG00000055805
Gene Name formin-like 1
Synonyms formin-related gene in leukocytes, 8030453N10Rik
MMRRC Submission 067801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R8345 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 103061933-103089727 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103077440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 267 (T267A)
Ref Sequence ENSEMBL: ENSMUSP00000046296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042286] [ENSMUST00000107027] [ENSMUST00000218163]
AlphaFold Q9JL26
Predicted Effect possibly damaging
Transcript: ENSMUST00000042286
AA Change: T267A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: T267A

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 damaging
Transcript: ENSMUST00000107027
AA Change: T267A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: T267A

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: ENSMUST00000218163
AA Change: T273A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 T C 8: 123,508,284 (GRCm39) V260A probably benign Het
Adgrv1 T C 13: 81,251,505 (GRCm39) D6204G probably damaging Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
Aspm T G 1: 139,392,011 (GRCm39) Y787* probably null Het
Atp8b5 A C 4: 43,291,714 (GRCm39) D29A probably benign Het
Bdh2 A T 3: 135,001,013 (GRCm39) I128F probably damaging Het
Bmper T A 9: 23,136,126 (GRCm39) M69K probably benign Het
Ccdc7a C T 8: 129,525,245 (GRCm39) M1415I probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Cdc23 G A 18: 34,767,150 (GRCm39) T564I probably benign Het
Cemip T A 7: 83,591,373 (GRCm39) probably null Het
Cfap65 C T 1: 74,967,203 (GRCm39) G249R probably benign Het
Clec2m T A 6: 129,302,593 (GRCm39) N145Y probably damaging Het
Cpsf1 T A 15: 76,485,690 (GRCm39) T435S probably benign Het
Dennd5a T C 7: 109,504,477 (GRCm39) T879A possibly damaging Het
Diaph3 G A 14: 87,066,529 (GRCm39) Q955* probably null Het
Disp2 G A 2: 118,641,284 (GRCm39) V298M unknown Het
Dnah1 C A 14: 30,986,551 (GRCm39) D3671Y probably damaging Het
Dnmt3a T C 12: 3,885,234 (GRCm39) S13P unknown Het
Eci3 G A 13: 35,132,164 (GRCm39) T228I probably damaging Het
Ecm2 T C 13: 49,674,276 (GRCm39) L232P probably benign Het
Ednra G A 8: 78,415,813 (GRCm39) R145C probably damaging Het
Faap100 G T 11: 120,267,856 (GRCm39) H306N possibly damaging Het
Fam8a1 T A 13: 46,827,054 (GRCm39) I275K probably damaging Het
Fat3 C A 9: 15,910,570 (GRCm39) V1811L probably benign Het
Fbn2 C T 18: 58,191,503 (GRCm39) C1540Y probably damaging Het
Fcgbpl1 G A 7: 27,854,785 (GRCm39) V1804M probably damaging Het
Ffar3 A G 7: 30,554,789 (GRCm39) L177P probably damaging Het
Fsip1 T C 2: 118,070,952 (GRCm39) E246G probably damaging Het
Gemin4 A G 11: 76,101,605 (GRCm39) L1052P probably damaging Het
Gp2 C T 7: 119,042,010 (GRCm39) C505Y probably benign Het
Grm5 A T 7: 87,723,746 (GRCm39) I679F probably damaging Het
Hapln1 A T 13: 89,732,902 (GRCm39) D21V probably benign Het
Jak2 T C 19: 29,262,270 (GRCm39) S364P probably damaging Het
Kansl3 A G 1: 36,387,897 (GRCm39) probably null Het
Kntc1 T C 5: 123,924,993 (GRCm39) L1102S probably benign Het
Mbd3l2 A G 9: 18,355,779 (GRCm39) I35V probably benign Het
Mdfic G T 6: 15,799,653 (GRCm39) C260F probably damaging Het
Mroh2b T C 15: 4,973,808 (GRCm39) S1109P probably benign Het
Myocd A T 11: 65,077,958 (GRCm39) C612* probably null Het
Or4b13 A T 2: 90,082,561 (GRCm39) M257K possibly damaging Het
Or4c102 A G 2: 88,422,435 (GRCm39) M96V probably benign Het
Or4f17-ps1 T A 2: 111,357,864 (GRCm39) C86* probably null Het
Or52h7 T A 7: 104,213,431 (GRCm39) M1K probably null Het
Or5w22 A T 2: 87,362,691 (GRCm39) T105S probably benign Het
Or8k21 A T 2: 86,145,451 (GRCm39) Y60N probably damaging Het
Pard3 C T 8: 128,050,549 (GRCm39) R204W probably damaging Het
Per1 T A 11: 68,998,382 (GRCm39) N1031K possibly damaging Het
Plekhh3 A G 11: 101,055,105 (GRCm39) S583P unknown Het
Pramel12 C T 4: 143,143,438 (GRCm39) T68I probably benign Het
Prex2 T A 1: 11,270,118 (GRCm39) C1268S possibly damaging Het
Prpf6 T C 2: 181,291,951 (GRCm39) I756T probably benign Het
Pum2 T C 12: 8,759,454 (GRCm39) V98A probably damaging Het
Rad50 A T 11: 53,574,968 (GRCm39) S652T probably benign Het
Rfng G T 11: 120,674,901 (GRCm39) P30T unknown Het
Rfx7 T C 9: 72,524,973 (GRCm39) I721T probably benign Het
Rpf1 G T 3: 146,213,431 (GRCm39) T240K probably benign Het
Ryr3 T C 2: 112,483,270 (GRCm39) N4189S probably benign Het
Samd15 G C 12: 87,248,212 (GRCm39) R299T probably benign Het
Scn3a A G 2: 65,329,335 (GRCm39) M765T possibly damaging Het
Scn9a G A 2: 66,324,966 (GRCm39) S1396L probably damaging Het
Sec24a C T 11: 51,634,605 (GRCm39) R107Q probably benign Het
Sema4b T A 7: 79,870,567 (GRCm39) V505E probably damaging Het
Siglec1 T A 2: 130,920,498 (GRCm39) T769S possibly damaging Het
Sit1 T C 4: 43,483,168 (GRCm39) E69G possibly damaging Het
Slc12a8 C A 16: 33,371,321 (GRCm39) D121E probably benign Het
Slc30a10 A T 1: 185,187,664 (GRCm39) Q135L probably benign Het
Suox A G 10: 128,507,200 (GRCm39) V276A probably benign Het
Tbc1d9b A G 11: 50,040,659 (GRCm39) D392G probably damaging Het
Tmed5 A G 5: 108,273,823 (GRCm39) W139R probably damaging Het
Tnks1bp1 C T 2: 84,893,226 (GRCm39) T389I possibly damaging Het
Vmn1r65 A T 7: 6,011,256 (GRCm39) I326K probably benign Het
Vmn2r43 A G 7: 8,256,601 (GRCm39) S421P possibly damaging Het
Vmn2r57 A T 7: 41,076,968 (GRCm39) N399K possibly damaging Het
Vmn2r90 T A 17: 17,933,127 (GRCm39) L229* probably null Het
Vwf A T 6: 125,656,265 (GRCm39) D2610V Het
Zfp646 C T 7: 127,483,082 (GRCm39) S1753L probably benign Het
Zfy2 C A Y: 2,107,096 (GRCm39) V513F possibly damaging Het
Zranb2 A T 3: 157,251,731 (GRCm39) I317F unknown 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
R4658:Fmnl1 UTSW 11 103,088,520 (GRCm39) missense probably damaging 1.00
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
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'- CCTTGTTATGAACCACCCAGC -3'
(R):5'- TCTCCACATGCCCTATCAGAGG -3'

Sequencing Primer
(F):5'- CCTGTGTCAATGAGATCGCTCTAAG -3'
(R):5'- AGGCTACAATTTCTGGCAGC -3'
Posted On 2020-09-02