Incidental Mutation 'R4812:Fmnl1'
ID 369576
Institutional Source Beutler Lab
Gene Symbol Fmnl1
Ensembl Gene ENSMUSG00000055805
Gene Name formin-like 1
Synonyms formin-related gene in leukocytes, 8030453N10Rik
MMRRC Submission 042431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R4812 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 103061933-103089727 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 103089390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134292 (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: V1088A
SMART Domains Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: V1088A

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 probably benign
Transcript: ENSMUST00000107027
SMART Domains Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805

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 noncoding transcript
Transcript: ENSMUST00000140559
Predicted Effect unknown
Transcript: ENSMUST00000218163
AA Change: V1094A
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 0.1050 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 93% (124/133)
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: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik C T 3: 40,575,633 (GRCm39) noncoding transcript Het
Abca5 T C 11: 110,192,647 (GRCm39) D681G probably damaging Het
Actl11 T C 9: 107,808,329 (GRCm39) V884A probably damaging Het
Akr1c14 G A 13: 4,129,165 (GRCm39) V187M probably damaging Het
Apbb1 A T 7: 105,223,232 (GRCm39) N126K probably damaging Het
Bmt2 G T 6: 13,677,799 (GRCm39) R12S unknown Het
Btrc G A 19: 45,411,603 (GRCm39) C9Y possibly damaging Het
C5ar1 A C 7: 15,982,258 (GRCm39) probably null Het
C8a C T 4: 104,719,788 (GRCm39) probably null Het
Cabin1 A G 10: 75,482,428 (GRCm39) S2172P possibly damaging Het
Calcoco2 T C 11: 95,998,276 (GRCm39) D49G probably damaging Het
Camta1 C T 4: 151,215,999 (GRCm39) D974N probably null Het
Car6 T C 4: 150,281,872 (GRCm39) E47G probably damaging Het
Ccnd3 G A 17: 47,908,505 (GRCm39) probably null Het
Celf5 A T 10: 81,306,573 (GRCm39) V30E probably damaging Het
Cfap251 G A 5: 123,425,368 (GRCm39) V776I probably benign Het
Cfap46 T A 7: 139,215,916 (GRCm39) D1513V probably damaging Het
Cinp T C 12: 110,846,174 (GRCm39) Y84C probably damaging Het
Cnih1 A G 14: 47,014,001 (GRCm39) I154T probably damaging Het
Col15a1 C T 4: 47,262,479 (GRCm39) P511L possibly damaging Het
Col4a4 C T 1: 82,439,874 (GRCm39) V1364M unknown Het
Cplane1 T G 15: 8,230,607 (GRCm39) probably null Het
Crtam A G 9: 40,895,621 (GRCm39) L38P probably damaging Het
Ctnna1 T A 18: 35,372,530 (GRCm39) V495D probably damaging Het
Cubn T C 2: 13,463,887 (GRCm39) Y606C probably damaging Het
Cyp4f16 C T 17: 32,765,652 (GRCm39) A345V probably null Het
Dctn1 A T 6: 83,166,919 (GRCm39) M160L probably benign Het
Dip2c T A 13: 9,687,166 (GRCm39) C366* probably null Het
Dnajc2 G A 5: 21,968,484 (GRCm39) S401L probably benign Het
Dnmt3l A G 10: 77,893,128 (GRCm39) I302V probably benign Het
Dvl2 T C 11: 69,902,119 (GRCm39) probably benign Het
Edn1 T G 13: 42,457,116 (GRCm39) S50A probably benign Het
Efhc1 A T 1: 21,060,871 (GRCm39) R636W probably damaging Het
Epg5 T A 18: 78,022,399 (GRCm39) H1047Q probably benign Het
Etv1 T G 12: 38,911,287 (GRCm39) V371G probably damaging Het
Fap T A 2: 62,349,365 (GRCm39) I475F probably damaging Het
Fbxw15 T C 9: 109,388,990 (GRCm39) I140V probably benign Het
Fer A G 17: 64,241,292 (GRCm39) T311A probably benign Het
Fh1 A G 1: 175,429,025 (GRCm39) W497R probably damaging Het
Flot2 T A 11: 77,944,191 (GRCm39) L45Q probably damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Garin5b G A 7: 4,762,071 (GRCm39) T295M probably damaging Het
Ggta1 C T 2: 35,292,735 (GRCm39) V203I probably benign Het
Gm19345 C T 7: 19,591,798 (GRCm39) V204M probably damaging Het
Gm4204 T A 1: 135,160,227 (GRCm39) noncoding transcript Het
Gm6124 C G 7: 38,872,319 (GRCm39) noncoding transcript Het
Gprin3 T A 6: 59,330,350 (GRCm39) K652N possibly damaging Het
Gucy1b2 T C 14: 62,653,346 (GRCm39) probably null Het
Hace1 C A 10: 45,562,699 (GRCm39) A738E probably benign Het
Hectd1 C T 12: 51,874,134 (GRCm39) probably null Het
Hnrnpdl T C 5: 100,184,331 (GRCm39) probably benign Het
Hyou1 T C 9: 44,298,418 (GRCm39) probably benign Het
Ifi44l G A 3: 151,465,336 (GRCm39) A138V probably benign Het
Igkv16-104 A T 6: 68,402,829 (GRCm39) I41F possibly damaging Het
Ints7 T A 1: 191,326,542 (GRCm39) D171E possibly damaging Het
Irag2 G A 6: 145,093,737 (GRCm39) G120S probably damaging Het
Kmt2a A T 9: 44,742,651 (GRCm39) probably benign Het
Kmt2e T C 5: 23,707,585 (GRCm39) V1716A possibly damaging Het
Krtap5-1 G A 7: 141,850,628 (GRCm39) S60F unknown Het
Lama4 G A 10: 38,948,765 (GRCm39) V843I probably benign Het
Laptm5 A G 4: 130,640,749 (GRCm39) probably null Het
Lbhd1 G A 19: 8,866,538 (GRCm39) A193T probably damaging Het
Lce3f C T 3: 92,900,247 (GRCm39) P23S unknown Het
Mecom A C 3: 30,194,517 (GRCm39) M1R probably null Het
Mindy4 A C 6: 55,256,088 (GRCm39) T531P possibly damaging Het
Mrpl3 A G 9: 104,951,023 (GRCm39) N263S probably damaging Het
Myo18b T C 5: 112,957,584 (GRCm39) K1460E possibly damaging Het
Myof A G 19: 37,905,007 (GRCm39) Y852H probably damaging Het
Nefl T G 14: 68,321,734 (GRCm39) V108G probably damaging Het
Nid1 T A 13: 13,681,053 (GRCm39) L1061* probably null Het
Nim1k T A 13: 120,173,920 (GRCm39) M325L probably benign Het
Nlrp1c-ps T C 11: 71,143,131 (GRCm39) noncoding transcript Het
Npsr1 C T 9: 24,201,252 (GRCm39) T59I probably damaging Het
Nr2c1 A G 10: 94,024,114 (GRCm39) T440A probably benign Het
Nup160 C T 2: 90,556,035 (GRCm39) T1245I probably damaging Het
Nup88 T A 11: 70,856,552 (GRCm39) T194S probably damaging Het
Oas3 A G 5: 120,899,212 (GRCm39) probably benign Het
Odad2 T G 18: 7,288,634 (GRCm39) T78P possibly damaging Het
Opn1sw A T 6: 29,378,038 (GRCm39) M252K probably damaging Het
Oprm1 T G 10: 6,782,698 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,406,087 (GRCm39) I220V probably benign Het
Or2y1g T A 11: 49,171,284 (GRCm39) I103K possibly damaging Het
Or4x13 T A 2: 90,231,440 (GRCm39) M145K probably benign Het
Pcdha2 T A 18: 37,072,861 (GRCm39) V164E probably benign Het
Pclo A G 5: 14,590,039 (GRCm39) T780A unknown Het
Pcnx2 T A 8: 126,592,678 (GRCm39) Q762L probably benign Het
Pcyt2 A T 11: 120,505,251 (GRCm39) probably benign Het
Pdpr A G 8: 111,843,349 (GRCm39) N294D probably benign Het
Perm1 T A 4: 156,303,193 (GRCm39) V579E possibly damaging Het
Pgk2 T A 17: 40,518,281 (GRCm39) K382N possibly damaging Het
Plcb4 T A 2: 135,849,801 (GRCm39) L205Q probably damaging Het
Plekha3 C T 2: 76,516,975 (GRCm39) T109I probably damaging Het
Pnn T A 12: 59,118,404 (GRCm39) V329E possibly damaging Het
Ptpn13 A G 5: 103,671,481 (GRCm39) I469M probably benign Het
Rapgef3 A G 15: 97,651,684 (GRCm39) V603A probably benign Het
Rbms1 C T 2: 60,623,113 (GRCm39) V75I possibly damaging Het
Rbp3 T A 14: 33,676,731 (GRCm39) D226E probably damaging Het
Robo2 A T 16: 73,713,176 (GRCm39) N1189K probably benign Het
Rragd A G 4: 33,018,766 (GRCm39) T270A probably benign Het
Rxfp1 T A 3: 79,557,889 (GRCm39) T530S probably benign Het
Ryr3 T C 2: 112,742,581 (GRCm39) E479G probably damaging Het
Scd2 A T 19: 44,289,841 (GRCm39) I279F probably damaging Het
Sh3d19 A T 3: 86,031,074 (GRCm39) D746V probably damaging Het
Shroom4 A G X: 6,536,180 (GRCm39) K1133E probably benign Het
Sirpb1c A G 3: 15,887,386 (GRCm39) V151A probably damaging Het
Slc26a2 A T 18: 61,335,093 (GRCm39) I120N probably damaging Het
Slco1a1 A G 6: 141,864,319 (GRCm39) S494P probably damaging Het
Srebf2 A T 15: 82,088,026 (GRCm39) T1061S probably damaging Het
Sspo T C 6: 48,467,444 (GRCm39) L4202P probably benign Het
Synj2 G A 17: 6,060,939 (GRCm39) G215E probably damaging Het
Tbc1d19 T C 5: 53,967,148 (GRCm39) V16A probably damaging Het
Tektl1 T C 10: 78,585,050 (GRCm39) H262R probably benign Het
Tiparp T C 3: 65,460,190 (GRCm39) I495T possibly damaging Het
Tipin A G 9: 64,211,694 (GRCm39) H260R probably benign Het
Tle1 A G 4: 72,063,591 (GRCm39) S221P probably damaging Het
Tmem94 T A 11: 115,686,938 (GRCm39) L1101* probably null Het
Trim43b C T 9: 88,973,533 (GRCm39) D67N probably benign Het
Ubn2 T A 6: 38,440,661 (GRCm39) C178S probably benign Het
Vmn1r54 T C 6: 90,246,307 (GRCm39) F74L probably benign Het
Vmn2r24 A G 6: 123,756,144 (GRCm39) H72R probably benign Het
Wnk1 C T 6: 119,929,732 (GRCm39) V850I probably benign Het
Zan T G 5: 137,454,547 (GRCm39) Y1419S unknown Het
Zbtb14 T A 17: 69,694,577 (GRCm39) Y92N probably damaging Het
Zfand5 A G 19: 21,255,101 (GRCm39) K116E probably benign Het
Zfhx3 A G 8: 109,674,593 (GRCm39) E1881G possibly damaging Het
Zfp280b A G 10: 75,874,924 (GRCm39) K268E probably benign Het
Zfp541 A G 7: 15,813,035 (GRCm39) I563V probably benign Het
Zfy2 T A Y: 2,106,334 (GRCm39) I767L probably benign 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
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'- AAATGAGTGTCCCCTTCCACG -3'
(R):5'- CTCAGGCTGAGTATGGCTATTG -3'

Sequencing Primer
(F):5'- CACGTGTACAAAATCAAGTCCTTAG -3'
(R):5'- AGGGTGCTACGACCAGTTTTTG -3'
Posted On 2016-02-04