Incidental Mutation 'IGL01790:Fmnl2'
ID 155184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmnl2
Ensembl Gene ENSMUSG00000036053
Gene Name formin-like 2
Synonyms man, 5430425K04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01790
Quality Score
Status
Chromosome 2
Chromosomal Location 52747872-53023816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53008380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 824 (I824T)
Ref Sequence ENSEMBL: ENSMUSP00000047260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [ENSMUST00000155586]
AlphaFold A2APV2
Predicted Effect probably damaging
Transcript: ENSMUST00000049483
AA Change: I824T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: I824T

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 damaging
Transcript: ENSMUST00000050719
AA Change: I790T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: I790T

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 possibly damaging
Transcript: ENSMUST00000090952
AA Change: I824T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: I824T

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 possibly damaging
Transcript: ENSMUST00000127122
AA Change: I824T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: I824T

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 possibly damaging
Transcript: ENSMUST00000155586
AA Change: I824T

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: I824T

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 T C 1: 158,407,897 (GRCm39) I618T possibly damaging Het
Bod1l T C 5: 41,989,593 (GRCm39) S377G probably benign Het
Disp2 A T 2: 118,621,361 (GRCm39) S698C probably damaging Het
Ehbp1l1 A G 19: 5,773,012 (GRCm39) V43A probably damaging Het
Eml5 G T 12: 98,765,191 (GRCm39) T1539K probably damaging Het
Gpr75 T G 11: 30,841,132 (GRCm39) N12K probably damaging Het
Hap1 C T 11: 100,242,732 (GRCm39) probably null Het
Helz2 A C 2: 180,880,274 (GRCm39) Y481D probably benign Het
Klhl3 T C 13: 58,157,236 (GRCm39) probably null Het
Lrcol1 A G 5: 110,502,073 (GRCm39) S49G probably damaging Het
Magi3 A G 3: 103,992,560 (GRCm39) M304T probably damaging Het
Med13l T C 5: 118,731,587 (GRCm39) W88R probably damaging Het
Nfatc1 A G 18: 80,710,257 (GRCm39) V503A probably damaging Het
Ntm C A 9: 29,322,886 (GRCm39) V45L probably benign Het
Or4c100 A G 2: 88,356,767 (GRCm39) N280S probably damaging Het
Or4f60 T A 2: 111,902,266 (GRCm39) I221L probably benign Het
Or4p22 T A 2: 88,317,270 (GRCm39) S65T possibly damaging Het
Or5b116 A G 19: 13,422,526 (GRCm39) D50G probably damaging Het
Or7a40 T C 16: 16,490,967 (GRCm39) R293G probably damaging Het
Pias4 T C 10: 80,993,332 (GRCm39) Q197R probably damaging Het
Pkhd1 T A 1: 20,628,895 (GRCm39) H684L probably damaging Het
Prr5 A C 15: 84,651,415 (GRCm39) I288L possibly damaging Het
Psmb3 T A 11: 97,603,336 (GRCm39) M183K probably damaging Het
Rasal1 T C 5: 120,808,383 (GRCm39) F472L possibly damaging Het
Rpl3 A T 15: 79,964,061 (GRCm39) probably benign Het
Scin A T 12: 40,113,256 (GRCm39) D538E probably benign Het
Sdhb T C 4: 140,701,038 (GRCm39) S165P probably benign Het
Slc43a2 C A 11: 75,436,577 (GRCm39) probably null Het
Sparc C T 11: 55,298,041 (GRCm39) probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tcf25 A G 8: 124,119,975 (GRCm39) E382G possibly damaging Het
Tmx3 G A 18: 90,529,458 (GRCm39) probably null Het
Trim24 C T 6: 37,922,548 (GRCm39) P452S probably benign Het
Vsig10 T A 5: 117,476,379 (GRCm39) W278R probably damaging Het
Other mutations in Fmnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Fmnl2 APN 2 53,004,929 (GRCm39) missense probably damaging 1.00
IGL00960:Fmnl2 APN 2 53,013,494 (GRCm39) missense probably damaging 0.98
IGL01343:Fmnl2 APN 2 53,013,557 (GRCm39) missense probably damaging 1.00
IGL02555:Fmnl2 APN 2 53,016,863 (GRCm39) critical splice acceptor site probably null
IGL02613:Fmnl2 APN 2 52,963,747 (GRCm39) critical splice donor site probably null
IGL02712:Fmnl2 APN 2 52,926,510 (GRCm39) splice site probably benign
IGL02715:Fmnl2 APN 2 52,962,222 (GRCm39) missense possibly damaging 0.93
IGL02750:Fmnl2 APN 2 52,993,709 (GRCm39) missense possibly damaging 0.95
IGL02832:Fmnl2 APN 2 52,748,261 (GRCm39) missense possibly damaging 0.90
IGL02975:Fmnl2 APN 2 52,991,494 (GRCm39) missense probably benign 0.45
Beefeater UTSW 2 52,963,666 (GRCm39) missense unknown
waterloo UTSW 2 52,904,860 (GRCm39) missense probably damaging 1.00
PIT4280001:Fmnl2 UTSW 2 53,008,208 (GRCm39) missense unknown
R0529:Fmnl2 UTSW 2 52,932,377 (GRCm39) missense probably damaging 1.00
R0571:Fmnl2 UTSW 2 52,944,503 (GRCm39) missense probably benign 0.01
R0707:Fmnl2 UTSW 2 52,944,498 (GRCm39) missense possibly damaging 0.85
R1172:Fmnl2 UTSW 2 52,962,286 (GRCm39) missense probably damaging 1.00
R1473:Fmnl2 UTSW 2 52,748,219 (GRCm39) missense possibly damaging 0.53
R1533:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R1536:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R1537:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R1547:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R1548:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R1549:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R1604:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R1608:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R1615:Fmnl2 UTSW 2 53,008,436 (GRCm39) missense probably damaging 1.00
R1792:Fmnl2 UTSW 2 52,932,329 (GRCm39) missense possibly damaging 0.79
R1965:Fmnl2 UTSW 2 53,004,880 (GRCm39) missense probably damaging 1.00
R1970:Fmnl2 UTSW 2 52,995,588 (GRCm39) missense possibly damaging 0.93
R2012:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R2065:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R2111:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R2112:Fmnl2 UTSW 2 52,995,549 (GRCm39) missense probably damaging 1.00
R2427:Fmnl2 UTSW 2 53,006,991 (GRCm39) missense probably damaging 0.96
R4084:Fmnl2 UTSW 2 52,997,507 (GRCm39) missense possibly damaging 0.96
R4095:Fmnl2 UTSW 2 52,991,535 (GRCm39) missense probably damaging 0.99
R4607:Fmnl2 UTSW 2 52,993,728 (GRCm39) missense possibly damaging 0.94
R4608:Fmnl2 UTSW 2 52,993,728 (GRCm39) missense possibly damaging 0.94
R4720:Fmnl2 UTSW 2 52,997,552 (GRCm39) missense possibly damaging 0.96
R4731:Fmnl2 UTSW 2 53,007,081 (GRCm39) missense possibly damaging 0.95
R4947:Fmnl2 UTSW 2 52,963,722 (GRCm39) missense probably benign 0.32
R5015:Fmnl2 UTSW 2 52,993,773 (GRCm39) missense possibly damaging 0.85
R5402:Fmnl2 UTSW 2 53,018,794 (GRCm39) missense probably damaging 0.97
R5731:Fmnl2 UTSW 2 53,008,149 (GRCm39) splice site probably null
R5766:Fmnl2 UTSW 2 52,991,466 (GRCm39) missense probably damaging 1.00
R5945:Fmnl2 UTSW 2 53,004,211 (GRCm39) missense probably damaging 0.99
R6093:Fmnl2 UTSW 2 53,004,880 (GRCm39) missense probably damaging 1.00
R6210:Fmnl2 UTSW 2 53,020,457 (GRCm39) missense possibly damaging 0.94
R6287:Fmnl2 UTSW 2 52,904,860 (GRCm39) missense probably damaging 1.00
R6661:Fmnl2 UTSW 2 52,998,297 (GRCm39) missense probably damaging 0.98
R6967:Fmnl2 UTSW 2 52,987,344 (GRCm39) missense possibly damaging 0.88
R7006:Fmnl2 UTSW 2 52,998,266 (GRCm39) missense probably benign 0.27
R7146:Fmnl2 UTSW 2 52,958,552 (GRCm39) missense
R7173:Fmnl2 UTSW 2 53,004,202 (GRCm39) missense unknown
R7176:Fmnl2 UTSW 2 53,004,162 (GRCm39) missense unknown
R7182:Fmnl2 UTSW 2 52,997,453 (GRCm39) missense unknown
R7201:Fmnl2 UTSW 2 52,963,666 (GRCm39) missense unknown
R7470:Fmnl2 UTSW 2 52,932,377 (GRCm39) missense probably damaging 1.00
R7481:Fmnl2 UTSW 2 52,998,443 (GRCm39) missense unknown
R7691:Fmnl2 UTSW 2 52,991,510 (GRCm39) missense unknown
R7699:Fmnl2 UTSW 2 52,926,520 (GRCm39) missense
R7700:Fmnl2 UTSW 2 52,926,520 (GRCm39) missense
R7722:Fmnl2 UTSW 2 52,944,479 (GRCm39) missense
R7775:Fmnl2 UTSW 2 52,963,692 (GRCm39) missense unknown
R7824:Fmnl2 UTSW 2 52,963,692 (GRCm39) missense unknown
R8282:Fmnl2 UTSW 2 52,997,678 (GRCm39) critical splice donor site probably null
R8774:Fmnl2 UTSW 2 52,932,321 (GRCm39) missense
R8774-TAIL:Fmnl2 UTSW 2 52,932,321 (GRCm39) missense
R8816:Fmnl2 UTSW 2 53,004,214 (GRCm39) missense unknown
R8832:Fmnl2 UTSW 2 52,944,584 (GRCm39) missense
R8868:Fmnl2 UTSW 2 53,016,077 (GRCm39) missense unknown
R8990:Fmnl2 UTSW 2 53,016,971 (GRCm39) missense unknown
R9412:Fmnl2 UTSW 2 53,007,016 (GRCm39) missense unknown
R9502:Fmnl2 UTSW 2 52,998,312 (GRCm39) missense unknown
R9532:Fmnl2 UTSW 2 53,006,941 (GRCm39) missense unknown
R9602:Fmnl2 UTSW 2 53,013,587 (GRCm39) critical splice donor site probably null
R9760:Fmnl2 UTSW 2 52,944,527 (GRCm39) missense
Z1188:Fmnl2 UTSW 2 53,004,883 (GRCm39) missense unknown
Posted On 2014-02-04