Incidental Mutation 'IGL01406:Fmnl1'
ID79817
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: 0.163) question?
Stock #IGL01406
Quality Score
Status
Chromosome11
Chromosomal Location103171107-103198901 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 103194690 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021323] [ENSMUST00000042286] [ENSMUST00000107026] [ENSMUST00000107027] [ENSMUST00000129726] [ENSMUST00000172850] [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: I687T
SMART Domains Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
AA Change: I687T

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: I687T
SMART Domains Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
AA Change: I687T

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 noncoding transcript
Transcript: ENSMUST00000126425
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: ENSMUST00000154871
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 unknown
Transcript: ENSMUST00000218163
AA Change: I693T
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,130,212 Q558* probably null Het
Adam29 A T 8: 55,871,839 Y527N probably damaging Het
Atm T C 9: 53,439,746 *3067W probably null Het
B3galt2 A T 1: 143,647,106 I327L possibly damaging Het
Cadm2 C A 16: 66,815,304 probably null Het
Cd6 G T 19: 10,791,137 A496E possibly damaging Het
Cdh16 A T 8: 104,618,412 I415N possibly damaging Het
Ces1b T C 8: 93,071,994 N188S probably damaging Het
Col4a1 T C 8: 11,218,898 D980G probably damaging Het
Dmgdh G A 13: 93,687,031 probably benign Het
Emb A T 13: 117,268,930 D296V probably damaging Het
Fbln2 T C 6: 91,266,392 S917P probably damaging Het
Frem2 T C 3: 53,525,896 Y2669C probably damaging Het
Gm3115 T A 14: 4,087,137 probably benign Het
Hnf1b C T 11: 83,889,124 P402S probably benign Het
Il7r T A 15: 9,508,214 R341* probably null Het
Krt75 T C 15: 101,568,025 Y435C probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Musk T C 4: 58,367,539 Y578H probably damaging Het
Naa20 A G 2: 145,915,806 probably null Het
Ncoa7 T C 10: 30,690,840 D565G probably damaging Het
Pgap1 C T 1: 54,533,414 probably null Het
Plekha5 G A 6: 140,572,950 R172H probably damaging Het
Snx17 A G 5: 31,195,994 Y77C probably damaging Het
Spdye4b C T 5: 143,202,411 P220S probably benign Het
Tbx18 T A 9: 87,713,543 D326V probably damaging Het
Tlr12 A T 4: 128,616,339 L706* probably null Het
Tnfrsf21 T A 17: 43,037,946 C150S probably damaging Het
Togaram1 A G 12: 64,995,578 D1187G possibly damaging Het
Trav5-1 T C 14: 52,622,987 L83P probably damaging Het
Vmn2r75 T A 7: 86,163,292 probably benign 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
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
IGL02812:Fmnl1 APN 11 103196766 unclassified probably benign
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
Posted On2013-11-05