Incidental Mutation 'IGL03058:Fmn1'
ID409336
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fmn1
Ensembl Gene ENSMUSG00000044042
Gene Nameformin 1
SynonymsFmn, formin-1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.382) question?
Stock #IGL03058
Quality Score
Status
Chromosome2
Chromosomal Location113327736-113716767 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 113441814 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081349] [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]
Predicted Effect unknown
Transcript: ENSMUST00000081349
AA Change: P176S
SMART Domains Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: P176S

DomainStartEndE-ValueType
Blast:FH2 25 641 N/A BLAST
SCOP:d1jvr__ 668 699 2e-3 SMART
FH2 757 1162 1.16e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099576
SMART Domains Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Blast:FH2 352 861 N/A BLAST
SCOP:d1jvr__ 894 925 2e-3 SMART
FH2 983 1388 1.16e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102547
SMART Domains Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Blast:FH2 352 861 N/A BLAST
SCOP:d1jvr__ 894 925 2e-3 SMART
FH2 983 1424 1.03e-134 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148420
Predicted Effect probably benign
Transcript: ENSMUST00000161731
SMART Domains Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Blast:FH2 352 619 1e-62 BLAST
Blast:FH2 625 765 3e-53 BLAST
SCOP:d1jvr__ 796 827 2e-3 SMART
FH2 885 1290 1.16e-137 SMART
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 belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for spontaneous, irradiation-induced, and transgene-insertional mutations show severe syndactyly and oligodactyly of the feet, abnormal long bones (including radius-ulna fusions), and reduced or absent kidneys. Many mutants survive and breed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik T C 11: 29,824,656 D267G probably benign Het
Abcg3 A G 5: 104,961,246 V395A probably benign Het
Adck1 A T 12: 88,459,130 T443S probably benign Het
Axdnd1 G A 1: 156,376,663 A541V probably benign Het
B020011L13Rik A G 1: 117,782,969 D35G possibly damaging Het
Bmp3 T G 5: 98,872,094 I125M probably damaging Het
Cdc40 T C 10: 40,849,828 E215G probably benign Het
Ces1f A G 8: 93,269,972 probably null Het
Chd8 A C 14: 52,218,273 V986G probably damaging Het
Clca4a A T 3: 144,961,834 probably benign Het
Crhbp T A 13: 95,443,798 E91V probably damaging Het
Dgkh T A 14: 78,627,797 H53L probably benign Het
Dnajc1 T C 2: 18,217,321 D532G possibly damaging Het
Dot1l T C 10: 80,790,997 S230P probably benign Het
Evi5 C T 5: 107,748,151 V809M probably damaging Het
Fbn1 T A 2: 125,403,200 M256L probably benign Het
Fgfr2 C T 7: 130,182,692 D292N probably damaging Het
Gm12394 G A 4: 42,793,764 L123F probably damaging Het
Htatsf1 T A X: 57,058,921 D203E probably damaging Het
Kcnh1 T A 1: 192,434,891 L51Q probably damaging Het
Lamp5 A T 2: 136,069,127 H260L probably benign Het
Mindy4 T A 6: 55,308,198 V659D probably damaging Het
Mkks C A 2: 136,876,170 L397F probably damaging Het
Ncan G A 8: 70,107,932 S795F possibly damaging Het
Olfr1006 T C 2: 85,674,681 I157V probably benign Het
Olfr159 A C 4: 43,770,255 F252C probably damaging Het
Papolg T C 11: 23,895,029 M4V probably benign Het
Pdk3 A T X: 93,802,286 I143N probably benign Het
Polr2a A T 11: 69,745,047 probably null Het
Prc1 C T 7: 80,301,125 T78I probably benign Het
Ret C A 6: 118,175,067 D569Y probably damaging Het
Samd9l G T 6: 3,374,980 N760K probably damaging Het
Slc5a12 T A 2: 110,640,792 S460T probably benign Het
Slco1c1 A G 6: 141,563,187 I573M probably benign Het
Steap4 A G 5: 7,975,664 D75G probably benign Het
Tcf20 A G 15: 82,852,004 F1749L probably damaging Het
Thbs2 T C 17: 14,689,969 T123A possibly damaging Het
Tmc3 T C 7: 83,615,886 S663P possibly damaging Het
Vmn2r121 G T X: 124,132,921 H180N probably benign Het
Vnn1 T C 10: 23,904,544 F477L probably benign Het
Xpnpep2 A G X: 48,125,425 probably null Het
Zfand4 T C 6: 116,288,077 F168L probably benign Het
Other mutations in Fmn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Fmn1 APN 2 113444467 intron probably benign
IGL01520:Fmn1 APN 2 113444368 intron probably benign
IGL02039:Fmn1 APN 2 113365080 missense unknown
IGL02222:Fmn1 APN 2 113593109 missense probably damaging 1.00
IGL02238:Fmn1 APN 2 113582125 missense possibly damaging 0.90
IGL02373:Fmn1 APN 2 113364126 missense unknown
IGL02490:Fmn1 APN 2 113529472 splice site probably benign
IGL02506:Fmn1 APN 2 113525295 missense unknown
IGL02684:Fmn1 APN 2 113525277 missense unknown
IGL03008:Fmn1 APN 2 113365100 missense unknown
IGL03076:Fmn1 APN 2 113584092 missense probably damaging 0.99
FR4304:Fmn1 UTSW 2 113525774 small insertion probably benign
FR4304:Fmn1 UTSW 2 113525783 small insertion probably benign
FR4342:Fmn1 UTSW 2 113525783 small insertion probably benign
FR4589:Fmn1 UTSW 2 113525773 small insertion probably benign
FR4589:Fmn1 UTSW 2 113525774 small insertion probably benign
FR4737:Fmn1 UTSW 2 113525778 small insertion probably benign
FR4737:Fmn1 UTSW 2 113525781 small insertion probably benign
FR4737:Fmn1 UTSW 2 113525784 small insertion probably benign
R0349:Fmn1 UTSW 2 113365796 missense unknown
R0452:Fmn1 UTSW 2 113636779 missense possibly damaging 0.46
R0529:Fmn1 UTSW 2 113707853 splice site probably benign
R1215:Fmn1 UTSW 2 113693030 nonsense probably null
R1471:Fmn1 UTSW 2 113693094 missense possibly damaging 0.95
R1489:Fmn1 UTSW 2 113365212 missense unknown
R1491:Fmn1 UTSW 2 113596369 missense probably damaging 1.00
R1551:Fmn1 UTSW 2 113525862 missense possibly damaging 0.70
R1558:Fmn1 UTSW 2 113693118 missense possibly damaging 0.46
R1588:Fmn1 UTSW 2 113365698 missense unknown
R1602:Fmn1 UTSW 2 113525623 missense unknown
R1690:Fmn1 UTSW 2 113525482 missense unknown
R1772:Fmn1 UTSW 2 113365355 missense unknown
R1867:Fmn1 UTSW 2 113709438 missense probably damaging 1.00
R1923:Fmn1 UTSW 2 113429721 intron probably benign
R1941:Fmn1 UTSW 2 113365143 missense unknown
R2019:Fmn1 UTSW 2 113364480 missense unknown
R2140:Fmn1 UTSW 2 113595048 missense probably benign 0.45
R2164:Fmn1 UTSW 2 113365617 missense unknown
R2395:Fmn1 UTSW 2 113365181 missense unknown
R2999:Fmn1 UTSW 2 113365094 missense unknown
R3405:Fmn1 UTSW 2 113364348 missense unknown
R3407:Fmn1 UTSW 2 113365055 missense unknown
R3771:Fmn1 UTSW 2 113582118 missense probably damaging 1.00
R3772:Fmn1 UTSW 2 113582118 missense probably damaging 1.00
R3773:Fmn1 UTSW 2 113582118 missense probably damaging 1.00
R3777:Fmn1 UTSW 2 113365122 missense unknown
R4166:Fmn1 UTSW 2 113636735 missense probably benign 0.33
R4477:Fmn1 UTSW 2 113444399 intron probably benign
R4614:Fmn1 UTSW 2 113365149 missense unknown
R4701:Fmn1 UTSW 2 113584071 missense possibly damaging 0.76
R4867:Fmn1 UTSW 2 113584120 critical splice donor site probably null
R5063:Fmn1 UTSW 2 113364921 missense unknown
R5224:Fmn1 UTSW 2 113365125 missense unknown
R5510:Fmn1 UTSW 2 113596369 missense probably damaging 1.00
R6083:Fmn1 UTSW 2 113364303 missense unknown
R6234:Fmn1 UTSW 2 113365655 missense unknown
R6266:Fmn1 UTSW 2 113596338 missense probably damaging 1.00
R6764:Fmn1 UTSW 2 113525215 missense unknown
R7054:Fmn1 UTSW 2 113365008 missense unknown
Z1088:Fmn1 UTSW 2 113441925 intron probably benign
Posted On2016-08-02