Incidental Mutation 'R9536:Fmn1'
ID 719675
Institutional Source Beutler Lab
Gene Symbol Fmn1
Ensembl Gene ENSMUSG00000044042
Gene Name formin 1
Synonyms formin-1, Fmn
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R9536 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 113158081-113547112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113309262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 728 (I728T)
Ref Sequence ENSEMBL: ENSMUSP00000099606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081349] [ENSMUST00000099576] [ENSMUST00000102547] [ENSMUST00000161731]
AlphaFold Q05860
Predicted Effect unknown
Transcript: ENSMUST00000081349
AA Change: I502T
SMART Domains Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: I502T

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: I728T
SMART Domains Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: I728T

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: I728T
SMART Domains Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: I728T

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 unknown
Transcript: ENSMUST00000161731
AA Change: I630T
SMART Domains Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: I630T

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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
1700013G24Rik A T 4: 137,182,623 (GRCm39) L259F probably damaging Het
Adamts6 A C 13: 104,489,313 (GRCm39) I389L probably benign Het
Adcy7 A T 8: 89,053,026 (GRCm39) E974V possibly damaging Het
Agbl3 G T 6: 34,823,861 (GRCm39) R847M probably benign Het
Ank2 T G 3: 126,736,031 (GRCm39) Q3284H unknown Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Bod1l C A 5: 41,974,305 (GRCm39) E2336D probably benign Het
Ccdc18 T C 5: 108,286,792 (GRCm39) S109P probably benign Het
Ccdc62 T C 5: 124,092,749 (GRCm39) F578S probably damaging Het
Chid1 A G 7: 141,093,755 (GRCm39) V287A probably benign Het
Cyp26b1 T G 6: 84,553,999 (GRCm39) D206A probably benign Het
Dennd6a A T 14: 26,329,758 (GRCm39) K334* probably null Het
Drd3 T C 16: 43,637,368 (GRCm39) V189A probably damaging Het
Frem3 G A 8: 81,342,048 (GRCm39) G1447D probably benign Het
Gck T C 11: 5,852,307 (GRCm39) D344G possibly damaging Het
Gimap9 T A 6: 48,654,416 (GRCm39) M1K probably null Het
Glb1l3 T C 9: 26,770,929 (GRCm39) T46A probably benign Het
Gm13941 T C 2: 110,918,861 (GRCm39) T198A unknown Het
Gphn T G 12: 78,609,636 (GRCm39) S327A possibly damaging Het
Hmcn2 T C 2: 31,335,130 (GRCm39) S4356P possibly damaging Het
Iqgap1 A T 7: 80,458,840 (GRCm39) M26K Het
Iqsec1 A G 6: 90,666,659 (GRCm39) Y489H probably damaging Het
Lars1 T A 18: 42,376,046 (GRCm39) R255* probably null Het
Lrp5 G A 19: 3,672,672 (GRCm39) H546Y probably damaging Het
Or2c1 T A 16: 3,657,438 (GRCm39) N200K possibly damaging Het
Or52a5b A T 7: 103,416,779 (GRCm39) V275E probably damaging Het
Or5p61 T C 7: 107,759,075 (GRCm39) I2V probably benign Het
Or6c33 G A 10: 129,853,345 (GRCm39) M38I probably benign Het
Osbpl6 T A 2: 76,416,554 (GRCm39) C691S probably benign Het
Pcbp3 G A 10: 76,599,225 (GRCm39) L304F possibly damaging Het
Pramel34 G C 5: 93,784,289 (GRCm39) L392V probably damaging Het
Rpl5 T A 5: 108,051,721 (GRCm39) S172T probably benign Het
Rps2 C T 17: 24,940,851 (GRCm39) H297Y unknown Het
Scp2 A T 4: 107,928,532 (GRCm39) V386E possibly damaging Het
Sh2d5 T A 4: 137,986,420 (GRCm39) V381E probably benign Het
Styxl1 T C 5: 135,776,634 (GRCm39) E318G probably benign Het
Tat T A 8: 110,722,711 (GRCm39) C258S probably benign Het
Thbs2 T C 17: 14,910,147 (GRCm39) N151D probably damaging Het
Thbs3 A T 3: 89,124,044 (GRCm39) I46F possibly damaging Het
Trpm6 A T 19: 18,764,123 (GRCm39) D243V probably damaging Het
Ttn T A 2: 76,739,017 (GRCm39) N3887Y unknown Het
Ubap2 A G 4: 41,195,661 (GRCm39) S1020P probably benign Het
Ubtfl1 A T 9: 18,320,537 (GRCm39) M22L probably benign Het
V1rd19 A T 7: 23,703,253 (GRCm39) I240F probably damaging Het
Vwa5b2 C T 16: 20,414,449 (GRCm39) P275L probably damaging Het
Zfp386 G A 12: 116,023,686 (GRCm39) C468Y probably damaging Het
Zfp975 A C 7: 42,312,345 (GRCm39) H89Q probably benign Het
Zfyve26 T A 12: 79,298,046 (GRCm39) N1881I 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
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
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
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'- AACTTGGCACTTTTGGTCGTC -3'
(R):5'- TCCAGAGTGATGTTGGTGCC -3'

Sequencing Primer
(F):5'- GGAATGAGTTCCCCTTTGCC -3'
(R):5'- CCTTTGGCAGCTGGGAG -3'
Posted On 2022-07-18