Incidental Mutation 'R8507:Fmnl1'
ID 655655
Institutional Source Beutler Lab
Gene Symbol Fmnl1
Ensembl Gene ENSMUSG00000055805
Gene Name formin-like 1
Synonyms formin-related gene in leukocytes, 8030453N10Rik
MMRRC Submission 067843-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R8507 (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 T at 103084859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 659 (N659I)
Ref Sequence ENSEMBL: ENSMUSP00000046296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000218163]
AlphaFold Q9JL26
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: N659I
SMART Domains Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: N659I

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: N659I
SMART Domains Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: N659I

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 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 unknown
Transcript: ENSMUST00000218163
AA Change: N665I
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,763,773 (GRCm39) C126R probably damaging Het
Agpat5 G A 8: 18,928,043 (GRCm39) V203I possibly damaging Het
Ankrd12 T A 17: 66,293,904 (GRCm39) R510* probably null Het
Anxa6 C T 11: 54,904,696 (GRCm39) A22T probably benign Het
Barx2 A T 9: 31,770,309 (GRCm39) L73Q probably damaging Het
BC024139 T C 15: 76,004,333 (GRCm39) K702R possibly damaging Het
Cc2d1a T C 8: 84,861,605 (GRCm39) K739R probably benign Het
Cdk12 A G 11: 98,141,111 (GRCm39) T1451A unknown Het
Chd7 A G 4: 8,858,675 (GRCm39) E2367G probably damaging Het
Cp A G 3: 20,025,193 (GRCm39) Y384C probably damaging Het
Dnah14 T A 1: 181,468,979 (GRCm39) W1270R probably benign Het
Dyrk2 G T 10: 118,696,567 (GRCm39) S230R probably damaging Het
Epn3 A T 11: 94,384,602 (GRCm39) S290R probably damaging Het
Fas C T 19: 34,304,626 (GRCm39) R296C probably benign Het
Gas8 T C 8: 124,257,777 (GRCm39) probably null Het
Gpr156 A G 16: 37,768,598 (GRCm39) T40A probably benign Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Htr3b C A 9: 48,876,177 (GRCm39) probably benign Het
Itgal C T 7: 126,928,607 (GRCm39) T1044I probably benign Het
Itprid2 A G 2: 79,475,208 (GRCm39) Q389R probably benign Het
Kcnip4 T G 5: 48,639,997 (GRCm39) D38A possibly damaging Het
Kcnma1 G T 14: 23,641,706 (GRCm39) Q216K probably benign Het
Kdsr T A 1: 106,671,400 (GRCm39) E203V probably null Het
Lrp1b T C 2: 41,298,387 (GRCm39) E999G Het
Malt1 T A 18: 65,603,594 (GRCm39) W577R probably damaging Het
Mroh2b A C 15: 4,978,572 (GRCm39) T1373P probably damaging Het
Mymk A G 2: 26,952,712 (GRCm39) probably null Het
Myo1f T A 17: 33,816,992 (GRCm39) H707Q probably benign Het
Ncam2 C A 16: 81,309,867 (GRCm39) H452Q possibly damaging Het
Ndrg4 A G 8: 96,404,975 (GRCm39) M1V probably null Het
Nps C T 7: 134,874,079 (GRCm39) S83L probably damaging Het
Nup155 T A 15: 8,177,044 (GRCm39) Y1040* probably null Het
Or1j15 T C 2: 36,459,443 (GRCm39) Y278H probably damaging Het
Or2ak4 C T 11: 58,648,985 (GRCm39) Q165* probably null Het
Or4f7 T C 2: 111,645,051 (GRCm39) T7A probably benign Het
Or5h22 C T 16: 58,895,243 (GRCm39) V67M possibly damaging Het
Pak1ip1 G A 13: 41,162,770 (GRCm39) R191Q probably benign Het
Pcdh17 G A 14: 84,683,384 (GRCm39) probably benign Het
Pcdhgc5 G T 18: 37,952,945 (GRCm39) R73L probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Plxnd1 A T 6: 115,943,866 (GRCm39) N1144K probably damaging Het
Ppp1r1b G T 11: 98,246,310 (GRCm39) E133D probably damaging Het
Ptpn13 A G 5: 103,705,815 (GRCm39) E1396G probably damaging Het
Reps1 T C 10: 17,970,218 (GRCm39) S272P probably damaging Het
Ric8b T C 10: 84,816,039 (GRCm39) V430A probably damaging Het
Septin10 A T 10: 59,012,825 (GRCm39) N264K possibly damaging Het
Sgms1 A T 19: 32,137,109 (GRCm39) F152L probably benign Het
Snapc1 C A 12: 74,011,506 (GRCm39) F57L probably damaging Het
Spidr A G 16: 15,786,540 (GRCm39) L401P probably damaging Het
Spn C T 7: 126,735,728 (GRCm39) V260M probably damaging Het
Sptan1 G A 2: 29,916,596 (GRCm39) A2095T probably damaging Het
Tbc1d15 A G 10: 115,038,407 (GRCm39) probably null Het
Thsd7b T A 1: 129,605,790 (GRCm39) F510L probably benign Het
Trpm5 T A 7: 142,632,050 (GRCm39) I920F probably damaging Het
Tspear C A 10: 77,710,898 (GRCm39) H507N probably benign Het
Vmn2r108 T A 17: 20,683,195 (GRCm39) K670* probably null Het
Vmn2r75 A T 7: 85,797,685 (GRCm39) C709* probably null Het
Wdfy3 G T 5: 102,020,767 (GRCm39) S2494R probably benign Het
Zfp456 A T 13: 67,515,108 (GRCm39) F199L probably damaging Het
Zfp830 A G 11: 82,655,529 (GRCm39) Q111R probably benign Het
Znrf1 G A 8: 112,263,842 (GRCm39) A24T 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
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
R8345:Fmnl1 UTSW 11 103,077,440 (GRCm39) missense possibly damaging 0.88
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'- ACCCTCTCCACTGAAGAGTC -3'
(R):5'- GATACTGCCTTCTCCTGTCAAG -3'

Sequencing Primer
(F):5'- CCACTGAAGAGTCTCTATTGCC -3'
(R):5'- TCAAGGCTTGGAGTCTAGCTAAC -3'
Posted On 2020-10-20