Incidental Mutation 'R3772:Fmn1'
ID 273336
Institutional Source Beutler Lab
Gene Symbol Fmn1
Ensembl Gene ENSMUSG00000044042
Gene Name formin 1
Synonyms formin-1, Fmn
MMRRC Submission 040748-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R3772 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 113158081-113547112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 113412463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 996 (S996A)
Ref Sequence ENSEMBL: ENSMUSP00000125052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081349] [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]
AlphaFold Q05860
Predicted Effect probably damaging
Transcript: ENSMUST00000081349
AA Change: S868A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: S868A

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 damaging
Transcript: ENSMUST00000099576
AA Change: S1094A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: S1094A

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 damaging
Transcript: ENSMUST00000102547
AA Change: S1094A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: S1094A

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 probably damaging
Transcript: ENSMUST00000161731
AA Change: S996A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: S996A

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: S943A
Meta Mutation Damage Score 0.1164 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (77/77)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,159,720 (GRCm39) probably benign Het
Adgrl1 A G 8: 84,649,633 (GRCm39) N97S possibly damaging Het
Aldh1a2 A G 9: 71,160,202 (GRCm39) D76G probably damaging Het
Aldh3a1 A G 11: 61,105,431 (GRCm39) E179G possibly damaging Het
Ap1g1 A G 8: 110,564,418 (GRCm39) D324G probably damaging Het
Arfgap2 A G 2: 91,095,711 (GRCm39) T12A probably benign Het
Aurka A G 2: 172,208,880 (GRCm39) L85P probably benign Het
Birc6 T A 17: 74,925,424 (GRCm39) probably benign Het
Bmp7 A T 2: 172,712,015 (GRCm39) I403N probably damaging Het
Carns1 A G 19: 4,220,915 (GRCm39) probably benign Het
Ccdc88c G A 12: 100,932,359 (GRCm39) probably benign Het
Ccl2 C T 11: 81,927,784 (GRCm39) A76V probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Clstn2 A G 9: 97,464,615 (GRCm39) I180T probably damaging Het
Col24a1 T C 3: 145,251,041 (GRCm39) L1680P probably damaging Het
Col4a6 C A X: 139,955,196 (GRCm39) G1416C probably damaging Het
Ctnna2 T G 6: 76,950,752 (GRCm39) N573T probably damaging Het
Cts8 G A 13: 61,398,715 (GRCm39) probably benign Het
Cxcl17 A G 7: 25,099,754 (GRCm39) probably benign Het
Defb18 T C 1: 18,306,845 (GRCm39) H37R possibly damaging Het
Dis3l2 T C 1: 86,782,130 (GRCm39) I229T probably benign Het
Dysf G A 6: 84,129,333 (GRCm39) S1474N possibly damaging Het
Elf1 T C 14: 79,804,650 (GRCm39) V105A possibly damaging Het
F13a1 T C 13: 37,082,108 (GRCm39) K532R probably benign Het
Focad A C 4: 88,254,398 (GRCm39) probably benign Het
Frmd4a A T 2: 4,595,433 (GRCm39) E109D probably damaging Het
Frrs1 T G 3: 116,672,036 (GRCm39) S45A possibly damaging Het
Gm5422 T A 10: 31,124,510 (GRCm39) noncoding transcript Het
Gm5866 T C 5: 52,740,088 (GRCm39) noncoding transcript Het
Hmcn2 C T 2: 31,250,908 (GRCm39) T790M probably damaging Het
Iglon5 A T 7: 43,130,037 (GRCm39) Y42* probably null Het
Khdrbs2 C T 1: 32,283,157 (GRCm39) Q90* probably null Het
Krt74 T C 15: 101,670,630 (GRCm39) noncoding transcript Het
Lamc2 T A 1: 152,999,997 (GRCm39) M1121L probably benign Het
Lrig1 A G 6: 94,582,798 (GRCm39) L1073P probably benign Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Man2c1 C A 9: 57,047,661 (GRCm39) probably benign Het
Megf10 G A 18: 57,416,934 (GRCm39) D768N probably benign Het
Mycbp2 T C 14: 103,371,224 (GRCm39) N4108S possibly damaging Het
Nid1 A G 13: 13,651,003 (GRCm39) probably benign Het
Nnt A G 13: 119,533,488 (GRCm39) V59A probably damaging Het
Nsd1 G A 13: 55,394,486 (GRCm39) V696I probably benign Het
Or1o4 T C 17: 37,590,745 (GRCm39) T189A probably benign Het
Pag1 G A 3: 9,764,688 (GRCm39) T155M probably benign Het
Pgam5 T C 5: 110,413,459 (GRCm39) H176R probably damaging Het
Pid1 T C 1: 84,015,918 (GRCm39) D149G probably damaging Het
Pkp3 G A 7: 140,662,259 (GRCm39) M1I probably null Het
Pld2 C T 11: 70,434,949 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,735,978 (GRCm39) T152A possibly damaging Het
Rab9b T A X: 135,762,198 (GRCm39) E67D probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf214 T C 9: 45,777,932 (GRCm39) M625V possibly damaging Het
Rwdd2a A C 9: 86,456,214 (GRCm39) N130T possibly damaging Het
Scn9a T C 2: 66,313,992 (GRCm39) N1909D probably benign Het
Septin10 A T 10: 59,012,709 (GRCm39) M303K probably damaging Het
Sez6l2 A G 7: 126,558,375 (GRCm39) E339G probably damaging Het
Sf3b1 C A 1: 55,039,150 (GRCm39) probably benign Het
Shisal1 A T 15: 84,290,886 (GRCm39) Y120* probably null Het
Ska3 C T 14: 58,047,534 (GRCm39) V334I probably benign Het
Srebf2 A G 15: 82,066,309 (GRCm39) K579R probably benign Het
St18 A T 1: 6,914,553 (GRCm39) K799I probably damaging Het
Strada C T 11: 106,055,648 (GRCm39) R333Q probably damaging Het
Stradb A T 1: 59,024,544 (GRCm39) I64L probably benign Het
Sun1 A G 5: 139,224,575 (GRCm39) probably benign Het
Tecta T C 9: 42,242,292 (GRCm39) T2094A probably damaging Het
Tenm4 A T 7: 96,344,087 (GRCm39) R227W probably damaging Het
Tnk2 A G 16: 32,498,640 (GRCm39) D651G probably damaging Het
Trim43c A T 9: 88,729,810 (GRCm39) D417V probably damaging Het
Tsc22d4 T C 5: 137,757,495 (GRCm39) L374P possibly damaging Het
Ttn T C 2: 76,601,711 (GRCm39) T16872A probably benign Het
Ubr4 T C 4: 139,180,011 (GRCm39) V262A possibly damaging Het
Vmn2r60 A T 7: 41,765,980 (GRCm39) N29I probably benign Het
Xrn2 T C 2: 146,903,207 (GRCm39) V765A probably benign Het
Zbed4 C T 15: 88,664,990 (GRCm39) P353S probably benign Het
Zfp251 A G 15: 76,737,836 (GRCm39) I414T possibly damaging Het
Zfp426 A T 9: 20,384,413 (GRCm39) probably null Het
Zwilch A T 9: 64,063,316 (GRCm39) F286I probably benign Het
Other mutations in Fmn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Fmn1 APN 2 113,274,812 (GRCm39) intron probably benign
IGL01520:Fmn1 APN 2 113,274,713 (GRCm39) intron probably benign
IGL02039:Fmn1 APN 2 113,195,425 (GRCm39) missense unknown
IGL02222:Fmn1 APN 2 113,423,454 (GRCm39) missense probably damaging 1.00
IGL02238:Fmn1 APN 2 113,412,470 (GRCm39) missense possibly damaging 0.90
IGL02373:Fmn1 APN 2 113,194,471 (GRCm39) missense unknown
IGL02490:Fmn1 APN 2 113,359,817 (GRCm39) splice site probably benign
IGL02506:Fmn1 APN 2 113,355,640 (GRCm39) missense unknown
IGL02684:Fmn1 APN 2 113,355,622 (GRCm39) missense unknown
IGL03008:Fmn1 APN 2 113,195,445 (GRCm39) missense unknown
IGL03058:Fmn1 APN 2 113,272,159 (GRCm39) intron probably benign
IGL03076:Fmn1 APN 2 113,414,437 (GRCm39) missense probably damaging 0.99
FR4304:Fmn1 UTSW 2 113,356,128 (GRCm39) small insertion probably benign
FR4304:Fmn1 UTSW 2 113,356,119 (GRCm39) small insertion probably benign
FR4342:Fmn1 UTSW 2 113,356,128 (GRCm39) small insertion probably benign
FR4589:Fmn1 UTSW 2 113,356,119 (GRCm39) small insertion probably benign
FR4589:Fmn1 UTSW 2 113,356,118 (GRCm39) small insertion probably benign
FR4737:Fmn1 UTSW 2 113,356,129 (GRCm39) small insertion probably benign
FR4737:Fmn1 UTSW 2 113,356,126 (GRCm39) small insertion probably benign
FR4737:Fmn1 UTSW 2 113,356,123 (GRCm39) small insertion probably benign
R0349:Fmn1 UTSW 2 113,196,141 (GRCm39) missense unknown
R0452:Fmn1 UTSW 2 113,467,124 (GRCm39) missense possibly damaging 0.46
R0529:Fmn1 UTSW 2 113,538,198 (GRCm39) splice site probably benign
R1215:Fmn1 UTSW 2 113,523,375 (GRCm39) nonsense probably null
R1471:Fmn1 UTSW 2 113,523,439 (GRCm39) missense possibly damaging 0.95
R1489:Fmn1 UTSW 2 113,195,557 (GRCm39) missense unknown
R1491:Fmn1 UTSW 2 113,426,714 (GRCm39) missense probably damaging 1.00
R1551:Fmn1 UTSW 2 113,356,207 (GRCm39) missense possibly damaging 0.70
R1558:Fmn1 UTSW 2 113,523,463 (GRCm39) missense possibly damaging 0.46
R1588:Fmn1 UTSW 2 113,196,043 (GRCm39) missense unknown
R1602:Fmn1 UTSW 2 113,355,968 (GRCm39) missense unknown
R1690:Fmn1 UTSW 2 113,355,827 (GRCm39) missense unknown
R1772:Fmn1 UTSW 2 113,195,700 (GRCm39) missense unknown
R1867:Fmn1 UTSW 2 113,539,783 (GRCm39) missense probably damaging 1.00
R1923:Fmn1 UTSW 2 113,260,066 (GRCm39) intron probably benign
R1941:Fmn1 UTSW 2 113,195,488 (GRCm39) missense unknown
R2019:Fmn1 UTSW 2 113,194,825 (GRCm39) missense unknown
R2140:Fmn1 UTSW 2 113,425,393 (GRCm39) missense probably benign 0.45
R2164:Fmn1 UTSW 2 113,195,962 (GRCm39) missense unknown
R2395:Fmn1 UTSW 2 113,195,526 (GRCm39) missense unknown
R2999:Fmn1 UTSW 2 113,195,439 (GRCm39) missense unknown
R3405:Fmn1 UTSW 2 113,194,693 (GRCm39) missense unknown
R3407:Fmn1 UTSW 2 113,195,400 (GRCm39) missense unknown
R3771:Fmn1 UTSW 2 113,412,463 (GRCm39) missense probably damaging 1.00
R3773:Fmn1 UTSW 2 113,412,463 (GRCm39) missense probably damaging 1.00
R3777:Fmn1 UTSW 2 113,195,467 (GRCm39) missense unknown
R4166:Fmn1 UTSW 2 113,467,080 (GRCm39) missense probably benign 0.33
R4477:Fmn1 UTSW 2 113,274,744 (GRCm39) intron probably benign
R4614:Fmn1 UTSW 2 113,195,494 (GRCm39) missense unknown
R4701:Fmn1 UTSW 2 113,414,416 (GRCm39) missense possibly damaging 0.76
R4867:Fmn1 UTSW 2 113,414,465 (GRCm39) critical splice donor site probably null
R5063:Fmn1 UTSW 2 113,195,266 (GRCm39) missense unknown
R5224:Fmn1 UTSW 2 113,195,470 (GRCm39) missense unknown
R5510:Fmn1 UTSW 2 113,426,714 (GRCm39) missense probably damaging 1.00
R6083:Fmn1 UTSW 2 113,194,648 (GRCm39) missense unknown
R6234:Fmn1 UTSW 2 113,196,000 (GRCm39) missense unknown
R6266:Fmn1 UTSW 2 113,426,683 (GRCm39) missense probably damaging 1.00
R6764:Fmn1 UTSW 2 113,355,560 (GRCm39) missense unknown
R7054:Fmn1 UTSW 2 113,195,353 (GRCm39) missense unknown
R7311:Fmn1 UTSW 2 113,356,025 (GRCm39) missense unknown
R7439:Fmn1 UTSW 2 113,271,956 (GRCm39) missense unknown
R7440:Fmn1 UTSW 2 113,271,956 (GRCm39) missense unknown
R7441:Fmn1 UTSW 2 113,271,956 (GRCm39) missense unknown
R7444:Fmn1 UTSW 2 113,271,956 (GRCm39) missense unknown
R7461:Fmn1 UTSW 2 113,194,416 (GRCm39) missense unknown
R7526:Fmn1 UTSW 2 113,518,479 (GRCm39) missense probably damaging 0.99
R7540:Fmn1 UTSW 2 113,359,655 (GRCm39) splice site probably null
R7576:Fmn1 UTSW 2 113,195,353 (GRCm39) missense unknown
R7657:Fmn1 UTSW 2 113,355,538 (GRCm39) missense unknown
R7669:Fmn1 UTSW 2 113,195,822 (GRCm39) missense unknown
R7713:Fmn1 UTSW 2 113,356,159 (GRCm39) missense unknown
R7841:Fmn1 UTSW 2 113,359,810 (GRCm39) critical splice donor site probably null
R7953:Fmn1 UTSW 2 113,426,689 (GRCm39) missense probably benign 0.03
R7959:Fmn1 UTSW 2 113,195,967 (GRCm39) missense unknown
R8041:Fmn1 UTSW 2 113,194,939 (GRCm39) missense unknown
R8152:Fmn1 UTSW 2 113,196,037 (GRCm39) missense unknown
R8203:Fmn1 UTSW 2 113,355,620 (GRCm39) missense unknown
R8318:Fmn1 UTSW 2 113,195,502 (GRCm39) missense unknown
R8356:Fmn1 UTSW 2 113,195,385 (GRCm39) missense unknown
R8456:Fmn1 UTSW 2 113,195,385 (GRCm39) missense unknown
R8698:Fmn1 UTSW 2 113,260,152 (GRCm39) missense unknown
R8861:Fmn1 UTSW 2 113,195,149 (GRCm39) missense unknown
R8907:Fmn1 UTSW 2 113,355,914 (GRCm39) missense unknown
R9147:Fmn1 UTSW 2 113,271,973 (GRCm39) missense unknown
R9148:Fmn1 UTSW 2 113,271,973 (GRCm39) missense unknown
R9536:Fmn1 UTSW 2 113,309,262 (GRCm39) missense unknown
R9574:Fmn1 UTSW 2 113,425,402 (GRCm39) missense probably damaging 1.00
R9577:Fmn1 UTSW 2 113,194,470 (GRCm39) missense unknown
RF003:Fmn1 UTSW 2 113,356,131 (GRCm39) small insertion probably benign
Z1088:Fmn1 UTSW 2 113,272,270 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- CCACACCTGGTATTAGAGAAAGG -3'
(R):5'- AACCAATCTGCCTTGCTGGG -3'

Sequencing Primer
(F):5'- CACCTGGTATTAGAGAAAGGGGAAC -3'
(R):5'- CCTTGCTGGGGTTAGAAGATCTACC -3'
Posted On 2015-03-25