Incidental Mutation 'IGL02812:Fmnl1'
ID360608
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmnl1
Ensembl Gene ENSMUSG00000055805
Gene Nameformin-like 1
Synonymsformin-related gene in leukocytes, 8030453N10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL02812
Quality Score
Status
Chromosome11
Chromosomal Location103171107-103198901 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 103196766 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000172850] [ENSMUST00000174567] [ENSMUST00000218163]
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: ENSMUST00000140559
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 noncoding transcript
Transcript: ENSMUST00000174079
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
Predicted Effect unknown
Transcript: ENSMUST00000218163
AA Change: D938G
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
4930563D23Rik A G 16: 92,320,728 I224T probably damaging Het
Abca7 G T 10: 80,006,047 V1005L possibly damaging Het
Abcc9 A G 6: 142,697,790 S11P possibly damaging Het
Acsl1 A T 8: 46,492,836 E2V possibly damaging Het
AI314180 T A 4: 58,864,343 probably benign Het
Aox3 G A 1: 58,165,896 V757I probably benign Het
Aqp4 T C 18: 15,397,575 probably null Het
Arhgef7 A G 8: 11,781,245 probably benign Het
Armc9 T A 1: 86,244,571 D2E probably damaging Het
Celsr2 G A 3: 108,414,113 P461L probably benign Het
Cep170 T C 1: 176,742,514 D1339G probably damaging Het
Clk1 T A 1: 58,414,476 N317I probably damaging Het
Comp G A 8: 70,376,687 G305S possibly damaging Het
Depdc5 G A 5: 32,893,368 probably benign Het
Dse T C 10: 34,183,716 E131G probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Epha2 A G 4: 141,318,919 probably benign Het
Gbp9 T C 5: 105,083,758 N321D probably damaging Het
Gm5884 A G 6: 128,645,775 noncoding transcript Het
Gp2 A T 7: 119,452,229 N254K probably benign Het
Hgh1 T A 15: 76,369,554 probably null Het
Inpp5f A G 7: 128,682,306 N543S probably damaging Het
Ints7 T C 1: 191,619,741 V854A probably damaging Het
Itgb1bp1 T G 12: 21,270,878 probably benign Het
Lrrtm4 A T 6: 80,021,964 N120Y probably damaging Het
Map3k5 T C 10: 20,025,036 S319P probably damaging Het
Mc4r A G 18: 66,859,247 L265S probably damaging Het
Morc1 T C 16: 48,558,506 probably benign Het
Mre11a T A 9: 14,790,670 probably null Het
Msh4 T C 3: 153,901,400 probably benign Het
Mterf4 A G 1: 93,304,733 L132P probably damaging Het
Myo15 A T 11: 60,477,179 E255V probably benign Het
Myot T C 18: 44,346,060 V288A probably damaging Het
Nipa2 T C 7: 55,943,018 Y53C probably damaging Het
Npas1 T A 7: 16,456,116 I502F probably damaging Het
Olfr1389 T A 11: 49,430,922 W149R probably damaging Het
Olfr536 C T 7: 140,503,620 V280M probably damaging Het
Osbp2 A G 11: 3,714,637 V565A probably benign Het
Otof A G 5: 30,374,082 S1666P probably benign Het
Per3 A C 4: 151,024,470 S476A probably damaging Het
Pja2 T C 17: 64,297,794 N465D probably damaging Het
Pla2g4c T C 7: 13,348,365 F512S probably damaging Het
Plcd4 T A 1: 74,557,808 L403Q probably damaging Het
Psg26 T C 7: 18,475,155 T443A probably benign Het
Snapc4 T A 2: 26,369,372 T589S probably benign Het
Spag8 G A 4: 43,651,755 R404W probably damaging Het
Tdrd7 A G 4: 45,994,406 D268G probably benign Het
Tfap2d A G 1: 19,142,927 H325R possibly damaging Het
Vmn1r59 C T 7: 5,454,177 V195I probably damaging Het
Vmn1r67 G A 7: 10,447,018 E70K probably benign Het
Wdr18 T A 10: 79,961,064 N91K possibly damaging Het
Zbtb7b T C 3: 89,379,774 T463A probably damaging Het
Other mutations in Fmnl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Fmnl1 APN 11 103197340 nonsense probably null
IGL00972:Fmnl1 APN 11 103180955 missense probably damaging 1.00
IGL01406:Fmnl1 APN 11 103194690 unclassified probably benign
IGL01417:Fmnl1 APN 11 103196694 unclassified probably benign
IGL01599:Fmnl1 APN 11 103186656 missense probably damaging 1.00
IGL02151:Fmnl1 APN 11 103192772 missense probably benign 0.38
IGL02324:Fmnl1 APN 11 103179538 missense probably damaging 1.00
IGL03369:Fmnl1 APN 11 103197182 splice site probably null
R0077:Fmnl1 UTSW 11 103189969 missense probably damaging 1.00
R0241:Fmnl1 UTSW 11 103182170 critical splice donor site probably null
R0241:Fmnl1 UTSW 11 103182170 critical splice donor site probably null
R0413:Fmnl1 UTSW 11 103194063 splice site probably benign
R1170:Fmnl1 UTSW 11 103197370 missense probably benign 0.02
R1389:Fmnl1 UTSW 11 103186709 splice site probably null
R1794:Fmnl1 UTSW 11 103197147 missense probably benign 0.00
R2082:Fmnl1 UTSW 11 103192025 missense probably damaging 1.00
R2105:Fmnl1 UTSW 11 103194692 missense probably benign 0.39
R3611:Fmnl1 UTSW 11 103194765 unclassified probably benign
R3883:Fmnl1 UTSW 11 103182114 missense probably damaging 1.00
R3893:Fmnl1 UTSW 11 103196757 unclassified probably benign
R4658:Fmnl1 UTSW 11 103197694 missense probably damaging 1.00
R4689:Fmnl1 UTSW 11 103193736 critical splice donor site probably null
R4812:Fmnl1 UTSW 11 103198564 unclassified probably benign
R4996:Fmnl1 UTSW 11 103182656 missense possibly damaging 0.58
R5646:Fmnl1 UTSW 11 103196512 unclassified probably benign
R5702:Fmnl1 UTSW 11 103185665 missense probably damaging 1.00
R5850:Fmnl1 UTSW 11 103195285 unclassified probably benign
R5903:Fmnl1 UTSW 11 103171444 splice site probably null
R6254:Fmnl1 UTSW 11 103196315 unclassified probably benign
R6958:Fmnl1 UTSW 11 103171314 start codon destroyed probably null 1.00
R7030:Fmnl1 UTSW 11 103194774 unclassified probably benign
R7133:Fmnl1 UTSW 11 103181784 critical splice donor site probably null
R7171:Fmnl1 UTSW 11 103190398 missense probably damaging 1.00
R7224:Fmnl1 UTSW 11 103182769 critical splice donor site probably null
R7282:Fmnl1 UTSW 11 103196265 missense unknown
R7448:Fmnl1 UTSW 11 103186627 missense probably damaging 1.00
R7463:Fmnl1 UTSW 11 103193128 missense probably damaging 1.00
R7831:Fmnl1 UTSW 11 103198173 missense unknown
R7862:Fmnl1 UTSW 11 103180930 missense probably damaging 1.00
R7973:Fmnl1 UTSW 11 103171158 start gained probably benign
R8177:Fmnl1 UTSW 11 103189959 missense probably damaging 0.98
R8273:Fmnl1 UTSW 11 103186699 missense probably damaging 1.00
R8345:Fmnl1 UTSW 11 103186614 missense possibly damaging 0.88
R8507:Fmnl1 UTSW 11 103194033 missense unknown
Posted On2015-12-18