Incidental Mutation 'IGL02613:Fmnl2'
ID300575
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? Non essential (E-score: 0.000) question?
Stock #IGL02613
Quality Score
Status
Chromosome2
Chromosomal Location52857860-53133804 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 53073735 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [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 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,783,984 I549L possibly damaging Het
Arhgef17 A T 7: 100,928,896 H948Q probably damaging Het
Auh A G 13: 52,918,999 probably null Het
Btf3 A G 13: 98,310,206 probably benign Het
Capg A G 6: 72,555,611 N53S probably damaging Het
Cfap70 T C 14: 20,409,064 probably null Het
Chrna5 A T 9: 55,006,421 E417V probably damaging Het
Coch A G 12: 51,595,349 T35A possibly damaging Het
Dock4 T A 12: 40,810,466 L1284M probably damaging Het
Etv3 A G 3: 87,536,395 T429A possibly damaging Het
Glb1 A G 9: 114,464,062 T502A possibly damaging Het
Greb1 C A 12: 16,739,888 probably null Het
Hspg2 A G 4: 137,544,420 Y2499C probably damaging Het
Kcnq1 A T 7: 143,426,126 probably benign Het
Lrriq1 A G 10: 103,144,548 S1497P probably damaging Het
Magel2 G A 7: 62,380,198 R950H unknown Het
Mcc A G 18: 44,429,954 L982P probably damaging Het
Naif1 T A 2: 32,455,160 M292K possibly damaging Het
Npb T A 11: 120,608,890 C99S probably damaging Het
Obscn G T 11: 59,002,132 R6763S probably benign Het
Olfr477 C T 7: 107,991,174 Q270* probably null Het
Olfr532 A G 7: 140,419,470 V101A probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pitpnm3 A T 11: 72,058,072 S736T probably damaging Het
Polr1a A T 6: 71,967,320 E1257V probably damaging Het
Sec63 G A 10: 42,801,707 D270N probably damaging Het
Snrnp200 C T 2: 127,218,426 T530I probably damaging Het
Sorbs1 A T 19: 40,327,547 N383K probably damaging Het
Syk G A 13: 52,643,040 G546R probably damaging Het
Tfap2d T A 1: 19,119,191 L265Q probably damaging Het
Trav12-1 C T 14: 53,538,285 S9L possibly damaging Het
Trerf1 T C 17: 47,348,840 noncoding transcript Het
Ttn T A 2: 76,728,360 I29726L possibly damaging Het
Usp18 A G 6: 121,261,090 T143A probably benign Het
Usp32 A T 11: 85,040,070 N511K probably damaging Het
Wdr64 C T 1: 175,767,047 Q4* probably null Het
Zfp277 A G 12: 40,329,515 F340S 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
IGL02555:Fmnl2 APN 2 53126851 critical splice acceptor 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
PIT4280001:Fmnl2 UTSW 2 53118196 missense unknown
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
R7006:Fmnl2 UTSW 2 53108254 missense probably benign 0.27
R7146:Fmnl2 UTSW 2 53068540 missense
R7173:Fmnl2 UTSW 2 53114190 missense unknown
R7176:Fmnl2 UTSW 2 53114150 missense unknown
R7182:Fmnl2 UTSW 2 53107441 missense unknown
R7201:Fmnl2 UTSW 2 53073654 missense unknown
R7470:Fmnl2 UTSW 2 53042365 missense probably damaging 1.00
R7481:Fmnl2 UTSW 2 53108431 missense unknown
R7691:Fmnl2 UTSW 2 53101498 missense unknown
R7699:Fmnl2 UTSW 2 53036508 missense
R7700:Fmnl2 UTSW 2 53036508 missense
R7722:Fmnl2 UTSW 2 53054467 missense
R7775:Fmnl2 UTSW 2 53073680 missense unknown
R7824:Fmnl2 UTSW 2 53073680 missense unknown
Posted On2015-04-16