Incidental Mutation 'R6083:Fmn1'
ID 482279
Institutional Source Beutler Lab
Gene Symbol Fmn1
Ensembl Gene ENSMUSG00000044042
Gene Name formin 1
Synonyms Fmn, formin-1
MMRRC Submission 044242-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R6083 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 113327736-113716767 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113364303 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 116 (E116G)
Ref Sequence ENSEMBL: ENSMUSP00000125052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]
AlphaFold Q05860
Predicted Effect unknown
Transcript: ENSMUST00000099576
AA Change: E116G
SMART Domains Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: E116G

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: E116G
SMART Domains Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: E116G

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: E116G
SMART Domains Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: E116G

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
Meta Mutation Damage Score 0.1238 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 96% (76/79)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C A 11: 58,878,851 (GRCm38) P73Q possibly damaging Het
Aak1 A T 6: 86,963,996 (GRCm38) I591F unknown Het
Ace C A 11: 105,985,267 (GRCm38) Y816* probably null Het
Ahnak2 A G 12: 112,782,612 (GRCm38) V1205A probably benign Het
Ahnak2 T G 12: 112,782,999 (GRCm38) Q1076P probably benign Het
Ap2a1 G A 7: 44,907,751 (GRCm38) R263W probably damaging Het
Arhgap29 A G 3: 121,992,748 (GRCm38) T257A probably benign Het
Bora A T 14: 99,062,294 (GRCm38) Q234L possibly damaging Het
Ccdc17 A T 4: 116,596,926 (GRCm38) Q47L possibly damaging Het
Cep170 C T 1: 176,774,625 (GRCm38) R305H probably damaging Het
Cyb5r4 C T 9: 87,057,168 (GRCm38) P335S probably damaging Het
Cyp2c54 A G 19: 40,073,762 (GRCm38) L17P probably benign Het
Cyp2c69 A T 19: 39,849,456 (GRCm38) V394E probably damaging Het
Dedd2 G A 7: 25,211,290 (GRCm38) P154S probably benign Het
Defb36 A T 2: 152,604,488 (GRCm38) M1L unknown Het
Dnaja1 A G 4: 40,731,713 (GRCm38) D263G probably benign Het
Dock10 T C 1: 80,532,431 (GRCm38) N1560S probably damaging Het
Efnb2 T C 8: 8,622,328 (GRCm38) probably null Het
Eif3e A G 15: 43,266,144 (GRCm38) I196T probably damaging Het
Ercc4 T A 16: 13,110,039 (GRCm38) C24* probably null Het
Gnas A G 2: 174,297,862 (GRCm38) M1V probably null Het
Grin2a C A 16: 9,579,540 (GRCm38) M894I probably benign Het
Herc2 G T 7: 56,228,505 (GRCm38) S4566I probably benign Het
Hmcn1 G T 1: 150,755,294 (GRCm38) P918T probably damaging Het
Hmcn1 G A 1: 150,755,293 (GRCm38) P918L probably damaging Het
Hsd3b2 T A 3: 98,712,056 (GRCm38) Y191F possibly damaging Het
Ifit1bl2 A C 19: 34,619,817 (GRCm38) F133C possibly damaging Het
Itih2 T C 2: 10,108,894 (GRCm38) probably benign Het
Itsn1 T C 16: 91,853,011 (GRCm38) L191P probably benign Het
Kdr T C 5: 75,944,366 (GRCm38) K1068R probably damaging Het
Lmtk2 T C 5: 144,182,756 (GRCm38) L1345P probably damaging Het
Man2b2 T A 5: 36,809,041 (GRCm38) D936V probably damaging Het
Mapk1ip1 G A 7: 138,836,588 (GRCm38) R38* probably null Het
Med13l T C 5: 118,721,486 (GRCm38) V246A possibly damaging Het
Mlec T A 5: 115,148,049 (GRCm38) T248S probably benign Het
Mslnl T A 17: 25,737,902 (GRCm38) V54D possibly damaging Het
Muc16 G A 9: 18,657,212 (GRCm38) T1337I unknown Het
Nek7 C T 1: 138,515,654 (GRCm38) S187N probably damaging Het
Neto2 A G 8: 85,640,585 (GRCm38) V538A probably benign Het
Nktr T C 9: 121,750,136 (GRCm38) probably benign Het
Npy6r A G 18: 44,276,492 (GRCm38) K327E probably damaging Het
Olfr1230 T A 2: 89,297,024 (GRCm38) D82V probably damaging Het
Olfr1245 T C 2: 89,575,672 (GRCm38) D18G probably benign Het
Olfr1463 A T 19: 13,234,525 (GRCm38) I92F probably benign Het
Olfr402 A G 11: 74,155,570 (GRCm38) M139V possibly damaging Het
Olfr705 A G 7: 106,873,582 (GRCm38) I221T probably damaging Het
Pcdhga4 A T 18: 37,687,425 (GRCm38) N676Y probably damaging Het
Pde2a T C 7: 101,502,879 (GRCm38) I331T possibly damaging Het
Pip5k1b A T 19: 24,304,035 (GRCm38) Y486* probably null Het
Plch2 A G 4: 155,000,818 (GRCm38) M272T probably benign Het
Rbm12 G A 2: 156,097,726 (GRCm38) probably benign Het
Rgs19 T C 2: 181,689,507 (GRCm38) E111G probably damaging Het
Rhbdf1 T C 11: 32,210,066 (GRCm38) N145S probably damaging Het
Rnf4 T A 5: 34,351,221 (GRCm38) probably null Het
Rpa1 T C 11: 75,314,911 (GRCm38) T207A probably damaging Het
Rufy4 A C 1: 74,129,397 (GRCm38) Q113P probably damaging Het
Sh3pxd2b T G 11: 32,422,985 (GRCm38) S717R probably benign Het
Sin3a A T 9: 57,107,540 (GRCm38) I682F probably damaging Het
Sipa1l2 A T 8: 125,468,473 (GRCm38) V842E possibly damaging Het
Slc5a4a A G 10: 76,147,597 (GRCm38) I23V unknown Het
Slitrk5 A G 14: 111,681,725 (GRCm38) N927S probably benign Het
Smc6 A G 12: 11,276,353 (GRCm38) K117R possibly damaging Het
Sod2 G A 17: 13,008,031 (GRCm38) probably benign Het
Stxbp1 A G 2: 32,796,018 (GRCm38) I567T possibly damaging Het
Tbkbp1 C A 11: 97,147,380 (GRCm38) L209F probably damaging Het
Tll1 G T 8: 64,038,586 (GRCm38) probably null Het
Tmem38b T C 4: 53,840,765 (GRCm38) L60S probably damaging Het
Trib1 G A 15: 59,654,475 (GRCm38) R298H probably damaging Het
Trim30b A G 7: 104,366,142 (GRCm38) V13A probably damaging Het
Trip11 G A 12: 101,889,742 (GRCm38) T425I probably benign Het
Ttn C A 2: 76,889,973 (GRCm38) probably benign Het
Tymp GC GCC 15: 89,374,364 (GRCm38) probably null Het
Ush2a T A 1: 188,267,023 (GRCm38) S177T probably damaging Het
Usp40 A T 1: 87,978,559 (GRCm38) S651R probably benign Het
Vmn1r125 T C 7: 21,272,719 (GRCm38) S181P probably damaging Het
Vmn1r198 T A 13: 22,354,758 (GRCm38) V138D possibly damaging Het
Vmn1r56 A G 7: 5,196,318 (GRCm38) L100P probably damaging Het
Vmn2r32 T A 7: 7,464,210 (GRCm38) D773V probably benign Het
Vmn2r53 A C 7: 12,581,881 (GRCm38) H670Q probably benign Het
Vmn2r69 A T 7: 85,406,503 (GRCm38) I809N probably damaging Het
Wdr7 G A 18: 63,728,469 (GRCm38) G184D probably damaging Het
Wnk1 C T 6: 120,037,601 (GRCm38) G11D probably damaging Het
Zfp110 A C 7: 12,844,675 (GRCm38) E171A possibly damaging Het
Zkscan6 T C 11: 65,815,931 (GRCm38) V134A probably damaging Het
Other mutations in Fmn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Fmn1 APN 2 113,444,467 (GRCm38) intron probably benign
IGL01520:Fmn1 APN 2 113,444,368 (GRCm38) intron probably benign
IGL02039:Fmn1 APN 2 113,365,080 (GRCm38) missense unknown
IGL02222:Fmn1 APN 2 113,593,109 (GRCm38) missense probably damaging 1.00
IGL02238:Fmn1 APN 2 113,582,125 (GRCm38) missense possibly damaging 0.90
IGL02373:Fmn1 APN 2 113,364,126 (GRCm38) missense unknown
IGL02490:Fmn1 APN 2 113,529,472 (GRCm38) splice site probably benign
IGL02506:Fmn1 APN 2 113,525,295 (GRCm38) missense unknown
IGL02684:Fmn1 APN 2 113,525,277 (GRCm38) missense unknown
IGL03008:Fmn1 APN 2 113,365,100 (GRCm38) missense unknown
IGL03058:Fmn1 APN 2 113,441,814 (GRCm38) intron probably benign
IGL03076:Fmn1 APN 2 113,584,092 (GRCm38) missense probably damaging 0.99
FR4304:Fmn1 UTSW 2 113,525,783 (GRCm38) small insertion probably benign
FR4304:Fmn1 UTSW 2 113,525,774 (GRCm38) small insertion probably benign
FR4342:Fmn1 UTSW 2 113,525,783 (GRCm38) small insertion probably benign
FR4589:Fmn1 UTSW 2 113,525,774 (GRCm38) small insertion probably benign
FR4589:Fmn1 UTSW 2 113,525,773 (GRCm38) small insertion probably benign
FR4737:Fmn1 UTSW 2 113,525,784 (GRCm38) small insertion probably benign
FR4737:Fmn1 UTSW 2 113,525,781 (GRCm38) small insertion probably benign
FR4737:Fmn1 UTSW 2 113,525,778 (GRCm38) small insertion probably benign
R0349:Fmn1 UTSW 2 113,365,796 (GRCm38) missense unknown
R0452:Fmn1 UTSW 2 113,636,779 (GRCm38) missense possibly damaging 0.46
R0529:Fmn1 UTSW 2 113,707,853 (GRCm38) splice site probably benign
R1215:Fmn1 UTSW 2 113,693,030 (GRCm38) nonsense probably null
R1471:Fmn1 UTSW 2 113,693,094 (GRCm38) missense possibly damaging 0.95
R1489:Fmn1 UTSW 2 113,365,212 (GRCm38) missense unknown
R1491:Fmn1 UTSW 2 113,596,369 (GRCm38) missense probably damaging 1.00
R1551:Fmn1 UTSW 2 113,525,862 (GRCm38) missense possibly damaging 0.70
R1558:Fmn1 UTSW 2 113,693,118 (GRCm38) missense possibly damaging 0.46
R1588:Fmn1 UTSW 2 113,365,698 (GRCm38) missense unknown
R1602:Fmn1 UTSW 2 113,525,623 (GRCm38) missense unknown
R1690:Fmn1 UTSW 2 113,525,482 (GRCm38) missense unknown
R1772:Fmn1 UTSW 2 113,365,355 (GRCm38) missense unknown
R1867:Fmn1 UTSW 2 113,709,438 (GRCm38) missense probably damaging 1.00
R1923:Fmn1 UTSW 2 113,429,721 (GRCm38) intron probably benign
R1941:Fmn1 UTSW 2 113,365,143 (GRCm38) missense unknown
R2019:Fmn1 UTSW 2 113,364,480 (GRCm38) missense unknown
R2140:Fmn1 UTSW 2 113,595,048 (GRCm38) missense probably benign 0.45
R2164:Fmn1 UTSW 2 113,365,617 (GRCm38) missense unknown
R2395:Fmn1 UTSW 2 113,365,181 (GRCm38) missense unknown
R2999:Fmn1 UTSW 2 113,365,094 (GRCm38) missense unknown
R3405:Fmn1 UTSW 2 113,364,348 (GRCm38) missense unknown
R3407:Fmn1 UTSW 2 113,365,055 (GRCm38) missense unknown
R3771:Fmn1 UTSW 2 113,582,118 (GRCm38) missense probably damaging 1.00
R3772:Fmn1 UTSW 2 113,582,118 (GRCm38) missense probably damaging 1.00
R3773:Fmn1 UTSW 2 113,582,118 (GRCm38) missense probably damaging 1.00
R3777:Fmn1 UTSW 2 113,365,122 (GRCm38) missense unknown
R4166:Fmn1 UTSW 2 113,636,735 (GRCm38) missense probably benign 0.33
R4477:Fmn1 UTSW 2 113,444,399 (GRCm38) intron probably benign
R4614:Fmn1 UTSW 2 113,365,149 (GRCm38) missense unknown
R4701:Fmn1 UTSW 2 113,584,071 (GRCm38) missense possibly damaging 0.76
R4867:Fmn1 UTSW 2 113,584,120 (GRCm38) critical splice donor site probably null
R5063:Fmn1 UTSW 2 113,364,921 (GRCm38) missense unknown
R5224:Fmn1 UTSW 2 113,365,125 (GRCm38) missense unknown
R5510:Fmn1 UTSW 2 113,596,369 (GRCm38) missense probably damaging 1.00
R6234:Fmn1 UTSW 2 113,365,655 (GRCm38) missense unknown
R6266:Fmn1 UTSW 2 113,596,338 (GRCm38) missense probably damaging 1.00
R6764:Fmn1 UTSW 2 113,525,215 (GRCm38) missense unknown
R7054:Fmn1 UTSW 2 113,365,008 (GRCm38) missense unknown
R7311:Fmn1 UTSW 2 113,525,680 (GRCm38) missense unknown
R7439:Fmn1 UTSW 2 113,441,611 (GRCm38) missense unknown
R7440:Fmn1 UTSW 2 113,441,611 (GRCm38) missense unknown
R7441:Fmn1 UTSW 2 113,441,611 (GRCm38) missense unknown
R7444:Fmn1 UTSW 2 113,441,611 (GRCm38) missense unknown
R7461:Fmn1 UTSW 2 113,364,071 (GRCm38) missense unknown
R7526:Fmn1 UTSW 2 113,688,134 (GRCm38) missense probably damaging 0.99
R7540:Fmn1 UTSW 2 113,529,310 (GRCm38) splice site probably null
R7576:Fmn1 UTSW 2 113,365,008 (GRCm38) missense unknown
R7657:Fmn1 UTSW 2 113,525,193 (GRCm38) missense unknown
R7669:Fmn1 UTSW 2 113,365,477 (GRCm38) missense unknown
R7713:Fmn1 UTSW 2 113,525,814 (GRCm38) missense unknown
R7841:Fmn1 UTSW 2 113,529,465 (GRCm38) critical splice donor site probably null
R7953:Fmn1 UTSW 2 113,596,344 (GRCm38) missense probably benign 0.03
R7959:Fmn1 UTSW 2 113,365,622 (GRCm38) missense unknown
R8041:Fmn1 UTSW 2 113,364,594 (GRCm38) missense unknown
R8152:Fmn1 UTSW 2 113,365,692 (GRCm38) missense unknown
R8203:Fmn1 UTSW 2 113,525,275 (GRCm38) missense unknown
R8318:Fmn1 UTSW 2 113,365,157 (GRCm38) missense unknown
R8356:Fmn1 UTSW 2 113,365,040 (GRCm38) missense unknown
R8456:Fmn1 UTSW 2 113,365,040 (GRCm38) missense unknown
R8698:Fmn1 UTSW 2 113,429,807 (GRCm38) missense unknown
R8861:Fmn1 UTSW 2 113,364,804 (GRCm38) missense unknown
R8907:Fmn1 UTSW 2 113,525,569 (GRCm38) missense unknown
R9147:Fmn1 UTSW 2 113,441,628 (GRCm38) missense unknown
R9148:Fmn1 UTSW 2 113,441,628 (GRCm38) missense unknown
R9536:Fmn1 UTSW 2 113,478,917 (GRCm38) missense unknown
R9574:Fmn1 UTSW 2 113,595,057 (GRCm38) missense probably damaging 1.00
R9577:Fmn1 UTSW 2 113,364,125 (GRCm38) missense unknown
RF003:Fmn1 UTSW 2 113,525,786 (GRCm38) small insertion probably benign
Z1088:Fmn1 UTSW 2 113,441,925 (GRCm38) intron probably benign
Predicted Primers PCR Primer
(F):5'- TAACTGCTACCAAGTCAGGGAGG -3'
(R):5'- AAATGCTGACTCCTGGCAGC -3'

Posted On 2017-07-14