Incidental Mutation 'R7440:Fmn1'
ID 576871
Institutional Source Beutler Lab
Gene Symbol Fmn1
Ensembl Gene ENSMUSG00000044042
Gene Name formin 1
Synonyms formin-1, Fmn
MMRRC Submission 045516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.249) question?
Stock # R7440 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 113158081-113547112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113271956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 108 (Q108L)
Ref Sequence ENSEMBL: ENSMUSP00000080093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081349] [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]
AlphaFold Q05860
PDB Structure FBP28WW2 domain in complex with the PPLIPPPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with PTPPPLPP peptide [SOLUTION NMR]
FBP28WW2 domain in complex with a PPPLIPPPP peptide [SOLUTION NMR]
Predicted Effect unknown
Transcript: ENSMUST00000081349
AA Change: Q108L
SMART Domains Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: Q108L

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 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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (69/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm G A 3: 153,628,626 (GRCm39) T403I probably damaging Het
Adat1 A T 8: 112,716,530 (GRCm39) M64K probably damaging Het
Adcy2 C T 13: 68,944,786 (GRCm39) V199M probably damaging Het
Ankrd13a T C 5: 114,941,636 (GRCm39) S508P possibly damaging Het
Ap1g1 T A 8: 110,529,356 (GRCm39) probably null Het
Bicral C T 17: 47,136,710 (GRCm39) G167R probably damaging Het
Ccser2 T C 14: 36,620,174 (GRCm39) K727E possibly damaging Het
Cep350 T G 1: 155,816,518 (GRCm39) K332N probably damaging Het
Cfap68 A G 9: 50,676,213 (GRCm39) V35A probably benign Het
Chd5 A G 4: 152,469,108 (GRCm39) N1811S probably benign Het
Chpf A T 1: 75,452,245 (GRCm39) V565D probably damaging Het
Clcn6 A T 4: 148,098,652 (GRCm39) L489H probably damaging Het
Cntln C A 4: 84,981,453 (GRCm39) T877K possibly damaging Het
Cog4 T C 8: 111,606,338 (GRCm39) V630A probably benign Het
Col6a5 G T 9: 105,758,630 (GRCm39) S2192* probably null Het
Cry2 G A 2: 92,243,983 (GRCm39) R397W probably damaging Het
Cstdc2 A C 2: 148,688,911 (GRCm39) C109W probably damaging Het
Cyp1b1 T C 17: 80,020,986 (GRCm39) N252S probably damaging Het
Dhx9 T C 1: 153,356,977 (GRCm39) I91V probably benign Het
Dnajb6 G A 5: 29,962,857 (GRCm39) A256T possibly damaging Het
Epm2a T G 10: 11,266,619 (GRCm39) Y121* probably null Het
Erlec1 T C 11: 30,900,818 (GRCm39) I117V possibly damaging Het
Exoc8 T C 8: 125,622,520 (GRCm39) M616V probably benign Het
Fuz T C 7: 44,545,996 (GRCm39) L46P probably damaging Het
Insc T C 7: 114,444,278 (GRCm39) S422P possibly damaging Het
Intu A G 3: 40,651,981 (GRCm39) I813V probably benign Het
Jak3 T A 8: 72,133,362 (GRCm39) S352T probably benign Het
Klf11 T C 12: 24,705,490 (GRCm39) S315P probably benign Het
Lrrc63 T C 14: 75,358,453 (GRCm39) N400D possibly damaging Het
Lrrk1 T C 7: 65,940,602 (GRCm39) D760G probably damaging Het
Macf1 A T 4: 123,349,239 (GRCm39) L3976* probably null Het
Map7 C T 10: 20,137,605 (GRCm39) A259V probably damaging Het
Meioc T A 11: 102,565,063 (GRCm39) D170E possibly damaging Het
Mgat5b T A 11: 116,859,271 (GRCm39) Y34* probably null Het
Mgst1 A G 6: 138,127,842 (GRCm39) K68R probably benign Het
Miga1 T A 3: 152,043,683 (GRCm39) probably null Het
Mrps33 G A 6: 39,779,413 (GRCm39) P94L probably damaging Het
Ncapg2 G T 12: 116,414,033 (GRCm39) G1068C possibly damaging Het
Ndufaf7 C T 17: 79,249,546 (GRCm39) H148Y probably damaging Het
Nkx6-3 A T 8: 23,643,770 (GRCm39) D57V probably damaging Het
Nlrp1a T C 11: 70,983,150 (GRCm39) D1272G probably damaging Het
Oit3 T C 10: 59,265,392 (GRCm39) N291S probably damaging Het
Or1b1 A T 2: 36,995,181 (GRCm39) H160Q possibly damaging Het
Pld1 T G 3: 28,095,419 (GRCm39) S251A probably benign Het
Polr1h T A 17: 37,268,736 (GRCm39) L75F probably benign Het
Potefam3a C T 8: 20,356,948 (GRCm38) S254N unknown Het
Ppfibp1 T C 6: 146,921,001 (GRCm39) S580P probably benign Het
Prdx6b A T 2: 80,123,560 (GRCm39) D123V probably damaging Het
Ptprs A G 17: 56,731,256 (GRCm39) L1050P possibly damaging Het
Rcc1 A C 4: 132,065,110 (GRCm39) S138A probably damaging Het
Rimbp3 G T 16: 17,031,065 (GRCm39) R1496S possibly damaging Het
Sacs T C 14: 61,429,054 (GRCm39) V371A probably benign Het
Sfxn4 A G 19: 60,830,642 (GRCm39) L260P possibly damaging Het
Slc17a1 G A 13: 24,062,466 (GRCm39) S211N possibly damaging Het
Slc39a11 C T 11: 113,452,918 (GRCm39) V8M probably damaging Het
Smpd2 A G 10: 41,365,012 (GRCm39) I78T probably benign Het
Steap3 A C 1: 120,169,248 (GRCm39) F350V probably benign Het
Syt17 A T 7: 117,981,107 (GRCm39) V462E probably damaging Het
Tlr11 T A 14: 50,598,801 (GRCm39) D262E probably benign Het
Tnfrsf9 T C 4: 151,014,331 (GRCm39) V10A probably benign Het
Trpv3 C A 11: 73,168,800 (GRCm39) Q87K probably benign Het
Ugt1a5 T C 1: 88,094,281 (GRCm39) Y170H probably benign Het
Urb1 A G 16: 90,584,296 (GRCm39) L562P probably damaging Het
Usp3 G T 9: 66,437,537 (GRCm39) N299K probably benign Het
Vmn1r83 T C 7: 12,055,556 (GRCm39) Y167C probably damaging Het
Vmn2r117 T A 17: 23,694,539 (GRCm39) Y436F probably benign Het
Vps13d A G 4: 144,854,981 (GRCm39) I2220T Het
Zfp936 T A 7: 42,836,685 (GRCm39) V32D probably damaging Het
Zswim2 A G 2: 83,751,063 (GRCm39) C259R probably damaging 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
R3772: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
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'- ACTCCTTGGAGCCTGAAGAG -3'
(R):5'- GGGCTCTTGAGAAGGTTCAC -3'

Sequencing Primer
(F):5'- CCTGAAGAGGAAGATGCTGTGC -3'
(R):5'- GGCTCTTGAGAAGGTTCACATAAAAC -3'
Posted On 2019-10-07