Incidental Mutation 'IGL02555:Fmnl2'
ID298488
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Nameformin-like 2
Synonyms5430425K04Rik, man
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.295) question?
Stock #IGL02555
Quality Score
Status
Chromosome2
Chromosomal Location52857860-53133804 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to G at 53126851 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [ENSMUST00000134459] [ENSMUST00000155586]
Predicted Effect probably null
Transcript: ENSMUST00000049483
SMART Domains Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053

DomainStartEndE-ValueType
Drf_GBD 23 275 1.19e-96 SMART
Drf_FH3 278 482 8.68e-76 SMART
low complexity region 518 540 N/A INTRINSIC
SCOP:d1jvr__ 549 588 8e-3 SMART
FH2 615 1052 1.66e-124 SMART
Predicted Effect probably null
Transcript: ENSMUST00000050719
SMART Domains Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053

DomainStartEndE-ValueType
Drf_GBD 23 275 1.19e-96 SMART
Drf_FH3 278 482 8.68e-76 SMART
low complexity region 518 540 N/A INTRINSIC
low complexity region 549 568 N/A INTRINSIC
FH2 581 1018 1.66e-124 SMART
Predicted Effect probably null
Transcript: ENSMUST00000090952
SMART Domains Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053

DomainStartEndE-ValueType
Drf_GBD 23 275 1.19e-96 SMART
Drf_FH3 278 482 8.68e-76 SMART
low complexity region 518 540 N/A INTRINSIC
SCOP:d1jvr__ 549 588 6e-3 SMART
FH2 615 1052 1.66e-124 SMART
low complexity region 1063 1075 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000127122
SMART Domains Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053

DomainStartEndE-ValueType
Drf_GBD 23 275 1.19e-96 SMART
Drf_FH3 278 482 8.68e-76 SMART
low complexity region 518 540 N/A INTRINSIC
SCOP:d1jvr__ 549 588 7e-3 SMART
FH2 615 1052 1.66e-124 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134459
SMART Domains Protein: ENSMUSP00000114995
Gene: ENSMUSG00000036053

DomainStartEndE-ValueType
Blast:FH2 1 68 1e-37 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000155586
SMART Domains Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053

DomainStartEndE-ValueType
Pfam:FH2 1 131 2e-33 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109I03Rik G T 15: 74,881,608 probably benign Het
Actr1b G A 1: 36,701,747 R199C probably damaging Het
Adam9 T C 8: 24,966,736 N661D probably damaging Het
Amy1 C T 3: 113,564,892 E164K probably benign Het
Arid5b A C 10: 68,101,904 D221E probably benign Het
B3galt1 G T 2: 68,118,561 V207F probably benign Het
Begain A G 12: 109,034,189 S219P probably damaging Het
Clip1 A G 5: 123,621,794 probably null Het
Cps1 A G 1: 67,214,021 K1224R probably benign Het
Dnm1 A G 2: 32,328,038 Y449H probably damaging Het
Epas1 A T 17: 86,829,064 M755L probably benign Het
F13b T C 1: 139,517,186 C525R probably damaging Het
Gm5346 A T 8: 43,625,268 C640S probably damaging Het
Ighv5-15 A G 12: 113,827,115 F3L probably benign Het
Inpp4a A G 1: 37,379,968 Q538R possibly damaging Het
Insrr A T 3: 87,813,817 M1092L probably damaging Het
Itgb8 C T 12: 119,189,881 V300M probably damaging Het
Kcnk5 A T 14: 20,141,985 H369Q probably benign Het
Olfr1023 G A 2: 85,887,398 M199I probably benign Het
Olfr1249 G A 2: 89,630,203 R232C probably damaging Het
Olfr1294 A G 2: 111,537,917 V124A probably damaging Het
Olfr24 T A 9: 18,755,473 H54L probably benign Het
Plxdc2 A G 2: 16,729,341 I417M probably benign Het
Polr1a G A 6: 71,920,457 E186K probably damaging Het
Ppp3cb A T 14: 20,530,953 F134L probably damaging Het
Prox2 C T 12: 85,095,260 W56* probably null Het
Scaf4 C T 16: 90,250,305 A395T unknown Het
Sh3tc2 G T 18: 61,990,237 A690S probably damaging Het
Slc34a1 T C 13: 55,401,168 S144P possibly damaging Het
Slc6a6 C T 6: 91,748,330 probably benign Het
Tubgcp3 A T 8: 12,639,595 M557K probably benign Het
Vmn2r103 A T 17: 19,811,611 D549V probably damaging Het
Washc2 T A 6: 116,209,100 N90K probably damaging Het
Other mutations in Fmnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Fmnl2 APN 2 53114917 missense probably damaging 1.00
IGL00960:Fmnl2 APN 2 53123482 missense probably damaging 0.98
IGL01343:Fmnl2 APN 2 53123545 missense probably damaging 1.00
IGL01790:Fmnl2 APN 2 53118368 missense probably damaging 1.00
IGL02613:Fmnl2 APN 2 53073735 critical splice donor site probably null
IGL02712:Fmnl2 APN 2 53036498 splice site probably benign
IGL02715:Fmnl2 APN 2 53072210 missense possibly damaging 0.93
IGL02750:Fmnl2 APN 2 53103697 missense possibly damaging 0.95
IGL02832:Fmnl2 APN 2 52858249 missense possibly damaging 0.90
IGL02975:Fmnl2 APN 2 53101482 missense probably benign 0.45
R0529:Fmnl2 UTSW 2 53042365 missense probably damaging 1.00
R0571:Fmnl2 UTSW 2 53054491 missense probably benign 0.01
R0707:Fmnl2 UTSW 2 53054486 missense possibly damaging 0.85
R1172:Fmnl2 UTSW 2 53072274 missense probably damaging 1.00
R1473:Fmnl2 UTSW 2 52858207 missense possibly damaging 0.53
R1533:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R1536:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R1537:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R1547:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R1548:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R1549:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R1604:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R1608:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R1615:Fmnl2 UTSW 2 53118424 missense probably damaging 1.00
R1792:Fmnl2 UTSW 2 53042317 missense possibly damaging 0.79
R1965:Fmnl2 UTSW 2 53114868 missense probably damaging 1.00
R1970:Fmnl2 UTSW 2 53105576 missense possibly damaging 0.93
R2012:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R2065:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R2111:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R2112:Fmnl2 UTSW 2 53105537 missense probably damaging 1.00
R2427:Fmnl2 UTSW 2 53116979 missense probably damaging 0.96
R4084:Fmnl2 UTSW 2 53107495 missense possibly damaging 0.96
R4095:Fmnl2 UTSW 2 53101523 missense probably damaging 0.99
R4607:Fmnl2 UTSW 2 53103716 missense possibly damaging 0.94
R4608:Fmnl2 UTSW 2 53103716 missense possibly damaging 0.94
R4720:Fmnl2 UTSW 2 53107540 missense possibly damaging 0.96
R4731:Fmnl2 UTSW 2 53117069 missense possibly damaging 0.95
R4947:Fmnl2 UTSW 2 53073710 missense probably benign 0.32
R5015:Fmnl2 UTSW 2 53103761 missense possibly damaging 0.85
R5402:Fmnl2 UTSW 2 53128782 missense probably damaging 0.97
R5731:Fmnl2 UTSW 2 53118137 intron probably null
R5766:Fmnl2 UTSW 2 53101454 missense probably damaging 1.00
R5945:Fmnl2 UTSW 2 53114199 missense probably damaging 0.99
R6093:Fmnl2 UTSW 2 53114868 missense probably damaging 1.00
R6210:Fmnl2 UTSW 2 53130445 missense possibly damaging 0.94
R6287:Fmnl2 UTSW 2 53014848 missense probably damaging 1.00
R6661:Fmnl2 UTSW 2 53108285 missense probably damaging 0.98
R6967:Fmnl2 UTSW 2 53097332 missense possibly damaging 0.88
Posted On2015-04-16