Incidental Mutation 'R7311:Fmn1'
ID 567568
Institutional Source Beutler Lab
Gene Symbol Fmn1
Ensembl Gene ENSMUSG00000044042
Gene Name formin 1
Synonyms formin-1, Fmn
MMRRC Submission 045367-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R7311 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 113158081-113547112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 113356025 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 920 (P920Q)
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: P694Q
SMART Domains Protein: ENSMUSP00000080093
Gene: ENSMUSG00000044042
AA Change: P694Q

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: P920Q
SMART Domains Protein: ENSMUSP00000097171
Gene: ENSMUSG00000044042
AA Change: P920Q

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: P920Q
SMART Domains Protein: ENSMUSP00000099606
Gene: ENSMUSG00000044042
AA Change: P920Q

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: P822Q
SMART Domains Protein: ENSMUSP00000125052
Gene: ENSMUSG00000044042
AA Change: P822Q

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: 99.1%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik A G 12: 110,635,184 (GRCm39) V118A probably benign Het
Accsl C T 2: 93,696,160 (GRCm39) G146D possibly damaging Het
Acsm1 A T 7: 119,237,305 (GRCm39) H206L probably damaging Het
Acta2 A G 19: 34,219,186 (GRCm39) Y339H probably damaging Het
Adcy2 T C 13: 68,779,073 (GRCm39) D989G probably damaging Het
Ahnak G A 19: 8,979,507 (GRCm39) A264T probably benign Het
Ahnak A G 19: 8,987,191 (GRCm39) D2825G possibly damaging Het
Akt1 G T 12: 112,623,587 (GRCm39) T291K probably damaging Het
Arhgap24 A G 5: 103,040,551 (GRCm39) D589G probably damaging Het
B4galnt3 G A 6: 120,192,396 (GRCm39) Q447* probably null Het
BC024063 C T 10: 81,945,993 (GRCm39) R538C possibly damaging Het
Bod1l A G 5: 41,951,676 (GRCm39) S2912P possibly damaging Het
Bysl A G 17: 47,912,710 (GRCm39) V360A possibly damaging Het
C1qb A G 4: 136,607,877 (GRCm39) V162A possibly damaging Het
Ccdc57 G A 11: 120,764,567 (GRCm39) P736L probably benign Het
Cep290 T A 10: 100,373,580 (GRCm39) F1287I probably damaging Het
Cntn1 T C 15: 92,130,156 (GRCm39) probably null Het
Col6a3 C T 1: 90,750,013 (GRCm39) G274R probably damaging Het
Cplane1 G T 15: 8,210,399 (GRCm39) V291F probably damaging Het
Cyb5r4 T C 9: 86,937,835 (GRCm39) C285R probably damaging Het
Cyp4f39 G A 17: 32,708,629 (GRCm39) C392Y probably damaging Het
Dcun1d3 A T 7: 119,458,734 (GRCm39) D100E probably damaging Het
Dhx58 A T 11: 100,588,997 (GRCm39) D516E probably benign Het
Dock5 T A 14: 68,065,951 (GRCm39) I351F probably benign Het
Elmod2 A C 8: 84,046,041 (GRCm39) probably null Het
Endov G A 11: 119,398,077 (GRCm39) A281T probably benign Het
Epyc A G 10: 97,485,562 (GRCm39) M1V probably null Het
Espnl T A 1: 91,251,290 (GRCm39) H128Q probably damaging Het
Fam20a A T 11: 109,565,454 (GRCm39) C452* probably null Het
Fam241b A G 10: 61,944,733 (GRCm39) V88A probably damaging Het
Fbxl9 A G 8: 106,042,299 (GRCm39) probably benign Het
Fgd3 A T 13: 49,450,166 (GRCm39) S28T possibly damaging Het
Gpr139 G C 7: 118,744,089 (GRCm39) D165E probably benign Het
Hoxb1 A G 11: 96,257,927 (GRCm39) T286A possibly damaging Het
Ifi204 T A 1: 173,587,134 (GRCm39) E174D probably benign Het
Igf2bp2 A G 16: 21,880,632 (GRCm39) I555T possibly damaging Het
Ighv1-85 A G 12: 115,963,799 (GRCm39) I67T probably damaging Het
Ihh G C 1: 74,990,306 (GRCm39) P23R unknown Het
Irx2 T C 13: 72,779,396 (GRCm39) S227P probably damaging Het
Itga4 A G 2: 79,086,526 (GRCm39) I68V probably benign Het
Jsrp1 T A 10: 80,647,906 (GRCm39) T51S probably benign Het
Khdc4 T C 3: 88,619,002 (GRCm39) S569P probably damaging Het
Kifc2 G T 15: 76,547,010 (GRCm39) G306V probably damaging Het
L3mbtl2 T A 15: 81,551,588 (GRCm39) S85T possibly damaging Het
Lama1 T C 17: 68,074,380 (GRCm39) S944P Het
Lama4 T A 10: 38,902,631 (GRCm39) C202S probably damaging Het
Morc3 G A 16: 93,646,061 (GRCm39) D218N probably damaging Het
Mrtfb T A 16: 13,223,718 (GRCm39) Y866* probably null Het
Myorg A G 4: 41,498,577 (GRCm39) I351T probably damaging Het
N4bp2l1 G A 5: 150,496,389 (GRCm39) T179I probably damaging Het
Narf A G 11: 121,139,976 (GRCm39) E270G probably benign Het
Nsd2 A G 5: 34,049,380 (GRCm39) D1205G probably damaging Het
Or10x1 T C 1: 174,196,759 (GRCm39) V92A probably benign Het
Or5an11 T C 19: 12,246,068 (GRCm39) V158A probably benign Het
Parl T C 16: 20,106,625 (GRCm39) T195A probably benign Het
Phrf1 A G 7: 140,820,846 (GRCm39) I158V unknown Het
Phtf1 T C 3: 103,904,980 (GRCm39) F543L possibly damaging Het
Plod2 T A 9: 92,466,611 (GRCm39) D190E probably damaging Het
Polr1a G T 6: 71,927,863 (GRCm39) K871N possibly damaging Het
Ppp2r5a A T 1: 191,089,998 (GRCm39) I252K probably damaging Het
Ptgir T A 7: 16,640,973 (GRCm39) D88E probably damaging Het
Raly T C 2: 154,699,340 (GRCm39) V48A probably damaging Het
Ripor1 T A 8: 106,344,447 (GRCm39) L527* probably null Het
Rnf213 T C 11: 119,307,373 (GRCm39) S678P Het
Rpf1 T A 3: 146,212,918 (GRCm39) Q306L probably benign Het
Rpl14 T C 9: 120,403,171 (GRCm39) I122T probably damaging Het
Scn9a C A 2: 66,314,748 (GRCm39) A1657S possibly damaging Het
Serpinb10 A G 1: 107,474,477 (GRCm39) Y213C probably damaging Het
Slc25a23 A G 17: 57,359,827 (GRCm39) L308P probably damaging Het
Smg9 T A 7: 24,120,058 (GRCm39) M387K probably benign Het
Socs3 G A 11: 117,858,614 (GRCm39) P148L probably benign Het
Susd3 A G 13: 49,401,906 (GRCm39) L14P probably benign Het
Syt14 T A 1: 192,662,858 (GRCm39) M80L probably benign Het
Tmprss2 T A 16: 97,369,616 (GRCm39) Y386F possibly damaging Het
Tmx3 T A 18: 90,558,195 (GRCm39) S416T probably benign Het
Treh A G 9: 44,597,245 (GRCm39) T555A probably benign Het
Ttc5 T G 14: 51,003,400 (GRCm39) Q428P probably damaging Het
Vmn2r73 A G 7: 85,521,192 (GRCm39) S259P possibly damaging Het
Vps4b A T 1: 106,719,434 (GRCm39) V38E probably damaging Het
Wdr83 C A 8: 85,802,890 (GRCm39) R177L probably benign Het
Zfp780b A G 7: 27,662,588 (GRCm39) F656L possibly damaging Het
Zfp995 A T 17: 22,099,641 (GRCm39) F198I probably benign Het
Zswim8 A T 14: 20,771,552 (GRCm39) Y1495F 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
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'- TTCCAGACAAGAGAAGGCAC -3'
(R):5'- TCAATGGCTGGTTTACGAGG -3'

Sequencing Primer
(F):5'- GAGAAGGCACCTCCTCATCTAGTC -3'
(R):5'- CTGGCTGGAAGAAGAGCTGAGTC -3'
Posted On 2019-06-26