Incidental Mutation 'IGL02812:Fmnl1'
ID 360608
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
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # IGL02812
Quality Score
Status
Chromosome 11
Chromosomal Location 103061933-103089727 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 103087592 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: D932G
SMART Domains Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: D932G

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: D932G
SMART Domains Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: D932G

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: ENSMUST00000174079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140559
Predicted Effect unknown
Transcript: ENSMUST00000218163
AA Change: D938G
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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G T 10: 79,841,881 (GRCm39) V1005L possibly damaging Het
Abcc9 A G 6: 142,643,516 (GRCm39) S11P possibly damaging Het
Acsl1 A T 8: 46,945,873 (GRCm39) E2V possibly damaging Het
Aox3 G A 1: 58,205,055 (GRCm39) V757I probably benign Het
Aqp4 T C 18: 15,530,632 (GRCm39) probably null Het
Arhgef7 A G 8: 11,831,245 (GRCm39) probably benign Het
Armc9 T A 1: 86,172,293 (GRCm39) D2E probably damaging Het
Celsr2 G A 3: 108,321,429 (GRCm39) P461L probably benign Het
Cep170 T C 1: 176,570,080 (GRCm39) D1339G probably damaging Het
Clk1 T A 1: 58,453,635 (GRCm39) N317I probably damaging Het
Comp G A 8: 70,829,337 (GRCm39) G305S possibly damaging Het
Depdc5 G A 5: 33,050,712 (GRCm39) probably benign Het
Dse T C 10: 34,059,712 (GRCm39) E131G probably damaging Het
Ecpas T A 4: 58,864,343 (GRCm39) probably benign Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Epha2 A G 4: 141,046,230 (GRCm39) probably benign Het
Fam243 A G 16: 92,117,616 (GRCm39) I224T probably damaging Het
Gbp9 T C 5: 105,231,624 (GRCm39) N321D probably damaging Het
Gm5884 A G 6: 128,622,738 (GRCm39) noncoding transcript Het
Gp2 A T 7: 119,051,452 (GRCm39) N254K probably benign Het
Hgh1 T A 15: 76,253,754 (GRCm39) probably null Het
Inpp5f A G 7: 128,284,030 (GRCm39) N543S probably damaging Het
Ints7 T C 1: 191,351,853 (GRCm39) V854A probably damaging Het
Itgb1bp1 T G 12: 21,320,879 (GRCm39) probably benign Het
Lrrtm4 A T 6: 79,998,947 (GRCm39) N120Y probably damaging Het
Map3k5 T C 10: 19,900,782 (GRCm39) S319P probably damaging Het
Mc4r A G 18: 66,992,318 (GRCm39) L265S probably damaging Het
Morc1 T C 16: 48,378,869 (GRCm39) probably benign Het
Mre11a T A 9: 14,701,966 (GRCm39) probably null Het
Msh4 T C 3: 153,607,037 (GRCm39) probably benign Het
Mterf4 A G 1: 93,232,455 (GRCm39) L132P probably damaging Het
Myo15a A T 11: 60,368,005 (GRCm39) E255V probably benign Het
Myot T C 18: 44,479,127 (GRCm39) V288A probably damaging Het
Nipa2 T C 7: 55,592,766 (GRCm39) Y53C probably damaging Het
Npas1 T A 7: 16,190,041 (GRCm39) I502F probably damaging Het
Or12j5 C T 7: 140,083,533 (GRCm39) V280M probably damaging Het
Or2y1d T A 11: 49,321,749 (GRCm39) W149R probably damaging Het
Osbp2 A G 11: 3,664,637 (GRCm39) V565A probably benign Het
Otof A G 5: 30,531,426 (GRCm39) S1666P probably benign Het
Per3 A C 4: 151,108,927 (GRCm39) S476A probably damaging Het
Pja2 T C 17: 64,604,789 (GRCm39) N465D probably damaging Het
Pla2g4c T C 7: 13,082,290 (GRCm39) F512S probably damaging Het
Plcd4 T A 1: 74,596,967 (GRCm39) L403Q probably damaging Het
Psg26 T C 7: 18,209,080 (GRCm39) T443A probably benign Het
Snapc4 T A 2: 26,259,384 (GRCm39) T589S probably benign Het
Spag8 G A 4: 43,651,755 (GRCm39) R404W probably damaging Het
Tdrd7 A G 4: 45,994,406 (GRCm39) D268G probably benign Het
Tfap2d A G 1: 19,213,151 (GRCm39) H325R possibly damaging Het
Vmn1r59 C T 7: 5,457,176 (GRCm39) V195I probably damaging Het
Vmn1r67 G A 7: 10,180,945 (GRCm39) E70K probably benign Het
Wdr18 T A 10: 79,796,898 (GRCm39) N91K possibly damaging Het
Zbtb7b T C 3: 89,287,081 (GRCm39) T463A 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
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
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
Posted On 2015-12-18