Incidental Mutation 'IGL01520:Fmn1'
ID90485
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 #IGL01520
Quality Score
Status
Chromosome2
Chromosomal Location113327736-113716767 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to A at 113444368 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: D466E
SMART Domains Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: D466E

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 unknown
Transcript: ENSMUST00000099576
AA Change: D692E
SMART Domains Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: D692E

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: D692E
SMART Domains Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: D692E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185668
AA Change: D541E
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,221,911 T1889K probably damaging Het
4430402I18Rik A T 19: 28,896,132 probably null Het
4932438A13Rik T A 3: 36,973,260 Y2265* probably null Het
Acan T A 7: 79,084,570 H58Q probably damaging Het
Atp6v1c2 A T 12: 17,297,753 L149Q probably damaging Het
Cd40lg A G X: 57,219,788 N132D probably benign Het
Cemip G T 7: 83,948,622 T1060K probably benign Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ces5a A T 8: 93,519,578 S328T probably benign Het
Cfap70 A G 14: 20,420,687 C497R probably benign Het
Cndp2 T C 18: 84,668,607 K430R probably benign Het
Crlf3 T C 11: 80,060,146 D126G probably benign Het
Cxcr1 A T 1: 74,192,275 L196Q probably damaging Het
E330013P04Rik A G 19: 60,161,897 noncoding transcript Het
Erbb2 C T 11: 98,434,009 H810Y probably benign Het
Fam57a T C 11: 76,207,225 probably null Het
Fpr3 A G 17: 17,971,063 T199A possibly damaging Het
Gcsh A G 8: 116,983,949 probably benign Het
Gm10073 T A 8: 106,573,269 I28F probably benign Het
Gucy1a2 C A 9: 3,759,561 Q456K probably damaging Het
Hgs C A 11: 120,478,348 P317T probably damaging Het
Inmt C A 6: 55,171,228 V139F probably damaging Het
Kcnma1 C A 14: 23,501,143 M460I possibly damaging Het
Map9 A T 3: 82,378,965 N359I probably damaging Het
Mavs T C 2: 131,245,343 S254P probably benign Het
Mcts1 T A X: 38,611,759 probably benign Het
Mecp2 C A X: 74,035,841 R344L possibly damaging Het
Olfr1006 T C 2: 85,674,357 T265A probably benign Het
Olfr1427 A G 19: 12,099,636 M1T probably null Het
Olfr1469 G T 19: 13,410,750 M60I probably damaging Het
Olfr392 T G 11: 73,814,786 T99P probably damaging Het
Olfr957 T C 9: 39,511,046 I225V possibly damaging Het
Olfr969 T G 9: 39,795,378 M1R probably null Het
Rasgrp1 T C 2: 117,288,663 I498V probably damaging Het
Rbbp6 T A 7: 122,985,675 S185T possibly damaging Het
Rd3 A T 1: 191,985,322 H251L possibly damaging Het
Rnf180 T A 13: 105,250,356 D148V probably damaging Het
Rnf43 C A 11: 87,664,716 A34E probably damaging Het
Rslcan18 A G 13: 67,102,108 V21A probably benign Het
Sept9 T C 11: 117,352,643 V128A probably damaging Het
Slc36a1 A G 11: 55,219,656 H103R probably benign Het
Ssh2 A G 11: 77,449,906 D628G probably damaging Het
Tmem119 A G 5: 113,795,485 F85S probably damaging Het
Tpp1 A T 7: 105,747,729 I398N probably benign Het
Ttc3 T C 16: 94,390,207 Y203H probably benign Het
Vars G T 17: 35,013,873 V898L probably benign Het
Vmn1r85 A C 7: 13,085,154 V21G probably damaging Het
Zfp521 T C 18: 13,938,988 H65R possibly damaging Het
Other mutations in Fmn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Fmn1 APN 2 113444467 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
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 On2013-12-09