Incidental Mutation 'IGL03008:Fmn1'
ID407673
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: 0.308) question?
Stock #IGL03008
Quality Score
Status
Chromosome2
Chromosomal Location113327736-113716767 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113365100 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 382 (T382A)
Ref Sequence ENSEMBL: ENSMUSP00000125052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]
Predicted Effect unknown
Transcript: ENSMUST00000099576
AA Change: T382A
SMART Domains Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: T382A

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 unknown
Transcript: ENSMUST00000102547
AA Change: T382A
SMART Domains Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: T382A

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 unknown
Transcript: ENSMUST00000161731
AA Change: T382A
SMART Domains Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: T382A

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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T G 5: 107,491,598 probably null Het
AF529169 A G 9: 89,596,678 Y772H probably damaging Het
Aga T C 8: 53,511,826 S8P probably benign Het
Ankrd34c C T 9: 89,730,284 M1I probably null Het
Ankrd44 T C 1: 54,766,809 H146R probably damaging Het
Bst1 A G 5: 43,826,262 probably null Het
Cdh12 A T 15: 21,480,330 I211F probably damaging Het
Cenpj G T 14: 56,526,949 D1335E probably benign Het
Clpx G A 9: 65,322,775 V502I possibly damaging Het
Cntnap4 T C 8: 112,773,590 S505P probably benign Het
Cog2 T C 8: 124,535,392 probably benign Het
Cped1 A G 6: 22,233,602 Q819R probably benign Het
Cspg4 A G 9: 56,898,475 E2190G possibly damaging Het
Ctsa G A 2: 164,837,448 R359Q probably damaging Het
Cul9 A G 17: 46,502,697 probably benign Het
Dab1 G T 4: 104,727,580 V306F probably damaging Het
Dysf A G 6: 84,073,894 I438V probably benign Het
Eif4g3 G T 4: 138,120,388 G380W probably damaging Het
Exd1 T A 2: 119,520,381 K466N probably benign Het
Eya3 A C 4: 132,706,983 D325A probably damaging Het
Fry T A 5: 150,345,556 D106E possibly damaging Het
Gm21957 T A 7: 125,219,561 noncoding transcript Het
Gm44511 A G 6: 128,784,096 probably benign Het
Gm884 T C 11: 103,620,467 E225G unknown Het
Itga4 A G 2: 79,325,638 I983V probably benign Het
Lrpprc A T 17: 84,751,247 D5E probably benign Het
Ltbp4 G T 7: 27,324,364 N747K probably damaging Het
Mlh3 T C 12: 85,240,851 Q1308R probably benign Het
Mtfr2 T A 10: 20,353,439 C63S possibly damaging Het
Myh11 T A 16: 14,204,753 M1661L probably benign Het
Myo1c T C 11: 75,658,414 M137T probably benign Het
Myocd A C 11: 65,187,566 L340V probably damaging Het
Napsa A T 7: 44,585,796 Q335L possibly damaging Het
Nlrp4b C A 7: 10,714,589 Q240K probably benign Het
Npepps A C 11: 97,238,158 F400C probably damaging Het
Nxpe4 A T 9: 48,393,438 E275V probably benign Het
Ofd1 T C X: 166,409,534 D501G probably benign Het
Olfr1310 A G 2: 112,008,523 I221T possibly damaging Het
Olfr228 A T 2: 86,483,334 M136K probably damaging Het
Olfr507 T G 7: 108,622,283 L157R probably damaging Het
Olfr525 T C 7: 140,323,532 Y278H probably damaging Het
P2ry1 A T 3: 61,003,526 T29S probably benign Het
Papss1 T C 3: 131,585,099 V201A possibly damaging Het
Paxip1 A G 5: 27,752,766 V864A probably benign Het
Pcdhgc5 T A 18: 37,821,834 H720Q probably benign Het
Pdxdc1 T C 16: 13,876,159 N133S possibly damaging Het
Prkar1a T C 11: 109,653,864 I27T probably damaging Het
Rnf10 G T 5: 115,251,296 H271N possibly damaging Het
Scn9a A G 2: 66,562,511 S246P probably damaging Het
Sertad2 G T 11: 20,647,798 probably benign Het
Slc22a27 A G 19: 7,909,702 I274T possibly damaging Het
Slc22a5 A T 11: 53,891,232 V103E probably damaging Het
Slc5a9 A T 4: 111,890,941 F225I probably benign Het
Slc6a3 G A 13: 73,558,285 probably null Het
Smcr8 A G 11: 60,778,461 E145G probably damaging Het
Spen A T 4: 141,476,137 D1726E possibly damaging Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stag1 A T 9: 100,776,791 N144Y probably damaging Het
Strada T C 11: 106,170,957 H156R probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tas2r138 A C 6: 40,613,182 D43E probably damaging Het
Tdpoz3 A T 3: 93,826,335 K106* probably null Het
Trbv13-1 A G 6: 41,116,295 D54G probably damaging Het
Ttc39b A G 4: 83,247,695 V218A probably benign Het
Ttn G A 2: 76,780,859 T15697I probably damaging Het
Ugt2b38 G A 5: 87,412,423 T344I probably benign Het
Vmn2r94 T C 17: 18,257,646 M168V probably benign Het
Wdr11 T C 7: 129,606,991 probably benign Het
Wipf2 T C 11: 98,892,728 probably benign Het
Zranb2 T A 3: 157,546,665 probably null 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
IGL03058:Fmn1 APN 2 113441814 intron probably benign
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
R7311:Fmn1 UTSW 2 113525680 missense unknown
R7439:Fmn1 UTSW 2 113441611 missense unknown
R7440:Fmn1 UTSW 2 113441611 missense unknown
R7441:Fmn1 UTSW 2 113441611 missense unknown
R7444:Fmn1 UTSW 2 113441611 missense unknown
R7461:Fmn1 UTSW 2 113364071 missense unknown
R7526:Fmn1 UTSW 2 113688134 missense probably damaging 0.99
R7540:Fmn1 UTSW 2 113529310 splice site probably null
R7576:Fmn1 UTSW 2 113365008 missense unknown
R7657:Fmn1 UTSW 2 113525193 missense unknown
R7669:Fmn1 UTSW 2 113365477 missense unknown
R7713:Fmn1 UTSW 2 113525814 missense unknown
R7841:Fmn1 UTSW 2 113529465 critical splice donor site probably null
R7924:Fmn1 UTSW 2 113529465 critical splice donor site probably null
R8041:Fmn1 UTSW 2 113364594 missense unknown
RF003:Fmn1 UTSW 2 113525786 small insertion probably benign
RF023:Fmn1 UTSW 2 113525786 small insertion probably benign
Z1088:Fmn1 UTSW 2 113441925 intron probably benign
Posted On2016-08-02