Incidental Mutation 'R5655:Fmnl3'
ID 442292
Institutional Source Beutler Lab
Gene Symbol Fmnl3
Ensembl Gene ENSMUSG00000023008
Gene Name formin-like 3
Synonyms 2700073B04Rik, Wbp3
MMRRC Submission 043301-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.706) question?
Stock # R5655 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 99215106-99268363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99219743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 668 (F668L)
Ref Sequence ENSEMBL: ENSMUSP00000113094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081224] [ENSMUST00000088233] [ENSMUST00000118287] [ENSMUST00000120633] [ENSMUST00000126955] [ENSMUST00000136980] [ENSMUST00000145482]
AlphaFold Q6ZPF4
Predicted Effect probably benign
Transcript: ENSMUST00000081224
AA Change: F617L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: F617L

DomainStartEndE-ValueType
Drf_GBD 26 227 2.99e-88 SMART
Drf_FH3 230 421 6.1e-71 SMART
low complexity region 448 497 N/A INTRINSIC
FH2 510 944 9.85e-141 SMART
low complexity region 960 975 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000088233
AA Change: F668L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: F668L

DomainStartEndE-ValueType
Drf_GBD 26 278 3.91e-92 SMART
Drf_FH3 281 472 6.1e-71 SMART
low complexity region 499 548 N/A INTRINSIC
FH2 561 995 9.85e-141 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118287
SMART Domains Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 87 N/A INTRINSIC
WW 93 125 7.6e-9 SMART
WW 134 166 1.75e-8 SMART
low complexity region 182 212 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
FF 276 330 2.36e-14 SMART
FF 410 470 6.94e-3 SMART
FF 490 550 1.41e0 SMART
low complexity region 557 568 N/A INTRINSIC
FF 626 682 3.41e-11 SMART
low complexity region 694 777 N/A INTRINSIC
low complexity region 778 797 N/A INTRINSIC
low complexity region 810 826 N/A INTRINSIC
low complexity region 845 866 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120633
AA Change: F668L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: F668L

DomainStartEndE-ValueType
Drf_GBD 26 278 3.91e-92 SMART
Drf_FH3 281 472 6.1e-71 SMART
low complexity region 499 548 N/A INTRINSIC
FH2 561 995 9.85e-141 SMART
low complexity region 1011 1026 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126955
Predicted Effect probably benign
Transcript: ENSMUST00000136980
SMART Domains Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007

DomainStartEndE-ValueType
low complexity region 1 18 N/A INTRINSIC
low complexity region 22 46 N/A INTRINSIC
low complexity region 50 81 N/A INTRINSIC
WW 87 119 7.6e-9 SMART
WW 128 160 1.75e-8 SMART
low complexity region 176 206 N/A INTRINSIC
low complexity region 249 261 N/A INTRINSIC
FF 270 324 2.36e-14 SMART
FF 404 464 6.94e-3 SMART
FF 484 544 1.41e0 SMART
FF 613 669 3.41e-11 SMART
low complexity region 681 764 N/A INTRINSIC
low complexity region 765 784 N/A INTRINSIC
low complexity region 797 813 N/A INTRINSIC
low complexity region 832 853 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150641
Predicted Effect probably benign
Transcript: ENSMUST00000145482
SMART Domains Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007

DomainStartEndE-ValueType
low complexity region 1 24 N/A INTRINSIC
low complexity region 28 52 N/A INTRINSIC
low complexity region 56 87 N/A INTRINSIC
WW 93 125 7.6e-9 SMART
WW 134 166 1.75e-8 SMART
low complexity region 182 212 N/A INTRINSIC
low complexity region 255 267 N/A INTRINSIC
FF 276 330 2.36e-14 SMART
FF 410 470 6.94e-3 SMART
FF 490 550 1.41e0 SMART
low complexity region 557 568 N/A INTRINSIC
FF 626 682 3.41e-11 SMART
low complexity region 693 708 N/A INTRINSIC
low complexity region 719 780 N/A INTRINSIC
low complexity region 781 800 N/A INTRINSIC
low complexity region 813 829 N/A INTRINSIC
low complexity region 848 869 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T A 5: 103,796,746 (GRCm39) I99F probably benign Het
Acan G A 7: 78,749,791 (GRCm39) D1521N possibly damaging Het
Acap3 C T 4: 155,981,076 (GRCm39) T53I probably benign Het
Actr3b G T 5: 26,053,366 (GRCm39) V232F probably damaging Het
Adgrl1 G A 8: 84,665,230 (GRCm39) V1311M possibly damaging Het
Arhgap23 T C 11: 97,343,372 (GRCm39) probably null Het
Asns A C 6: 7,685,309 (GRCm39) M116R probably benign Het
Asprv1 A T 6: 86,605,464 (GRCm39) E103D probably benign Het
Atxn2 T C 5: 121,885,489 (GRCm39) I232T probably damaging Het
B020004C17Rik C T 14: 57,252,689 (GRCm39) probably benign Het
Bckdha A G 7: 25,329,789 (GRCm39) Y414H probably damaging Het
Bod1l G A 5: 41,974,387 (GRCm39) T2309M probably benign Het
Cacna2d1 T A 5: 16,507,333 (GRCm39) F361I probably damaging Het
Cdc45 C T 16: 18,626,029 (GRCm39) probably null Het
Cog4 A G 8: 111,589,939 (GRCm39) Y368C probably damaging Het
Cplx3 C T 9: 57,523,258 (GRCm39) V100M probably damaging Het
Cyp4a12b C G 4: 115,290,994 (GRCm39) H341D probably damaging Het
Ddx10 A T 9: 53,120,987 (GRCm39) probably null Het
Dnah12 A T 14: 26,431,424 (GRCm39) Y414F probably benign Het
Dync1h1 A G 12: 110,595,496 (GRCm39) K1445R probably benign Het
Dync2h1 A C 9: 7,148,659 (GRCm39) D928E probably benign Het
Dzip1 T A 14: 119,124,644 (GRCm39) probably null Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fgf14 T C 14: 124,429,828 (GRCm39) N36D probably benign Het
Foxl2 C T 9: 98,838,048 (GRCm39) P112L probably damaging Het
Foxp2 T G 6: 15,197,112 (GRCm39) H51Q probably damaging Het
Frem3 A T 8: 81,339,323 (GRCm39) T539S probably benign Het
Ftcd G T 10: 76,423,937 (GRCm39) G493C probably damaging Het
Gab2 A G 7: 96,948,099 (GRCm39) S230G probably benign Het
Gabra1 A T 11: 42,073,750 (GRCm39) probably null Het
Gm14496 A T 2: 181,637,975 (GRCm39) I350L probably benign Het
Idh2 A C 7: 79,747,996 (GRCm39) C235G probably damaging Het
Ift140 C T 17: 25,264,038 (GRCm39) L514F probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lamc3 C A 2: 31,815,729 (GRCm39) R1142S probably benign Het
Lmod2 A T 6: 24,603,853 (GRCm39) H276L possibly damaging Het
Lrrc37a T A 11: 103,389,381 (GRCm39) I2015L probably benign Het
Mcf2l A G 8: 13,060,444 (GRCm39) E764G probably damaging Het
Mcph1 G A 8: 18,838,326 (GRCm39) M749I probably benign Het
Msh2 C T 17: 88,026,871 (GRCm39) A789V possibly damaging Het
Ndufa2 T C 18: 36,877,519 (GRCm39) I19V probably benign Het
Neurod4 T A 10: 130,107,002 (GRCm39) K91* probably null Het
Nos1 G T 5: 118,061,322 (GRCm39) G883C probably damaging Het
Npdc1 A T 2: 25,297,692 (GRCm39) H121L possibly damaging Het
Or2ak5 G A 11: 58,611,077 (GRCm39) H266Y probably damaging Het
Or3a10 A C 11: 73,935,160 (GRCm39) Y313* probably null Het
Orc1 A G 4: 108,450,636 (GRCm39) I123V probably benign Het
P2ry13 C T 3: 59,117,260 (GRCm39) V173M possibly damaging Het
Pigk T A 3: 152,445,858 (GRCm39) N156K probably damaging Het
Pik3ap1 A T 19: 41,286,680 (GRCm39) F569Y possibly damaging Het
Pla2g4c T A 7: 13,063,889 (GRCm39) probably null Het
Plk3 A G 4: 116,988,677 (GRCm39) L324P probably damaging Het
Pom121 A G 5: 135,421,171 (GRCm39) S260P unknown Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Prrt2 G A 7: 126,618,574 (GRCm39) A297V probably damaging Het
Prss47 A T 13: 65,192,857 (GRCm39) V308E probably damaging Het
Ptbp2 T C 3: 119,517,806 (GRCm39) I139V probably benign Het
Ptprz1 A T 6: 22,999,772 (GRCm39) M621L probably benign Het
Rab6a G A 7: 100,257,501 (GRCm39) probably null Het
Ranbp1 C T 16: 18,059,669 (GRCm39) D127N probably damaging Het
Rnpepl1 G T 1: 92,847,032 (GRCm39) R272L probably damaging Het
Slc27a2 T C 2: 126,420,859 (GRCm39) L314P probably damaging Het
Slc6a5 A T 7: 49,606,218 (GRCm39) M709L probably benign Het
Smarcc1 A T 9: 109,986,412 (GRCm39) S238C probably null Het
Snx29 C T 16: 11,573,185 (GRCm39) L476F probably damaging Het
Sorbs2 T C 8: 46,194,618 (GRCm39) probably null Het
St6galnac2 T C 11: 116,575,972 (GRCm39) N160D probably damaging Het
Thsd7b A G 1: 129,556,671 (GRCm39) probably null Het
Trpc4ap G A 2: 155,495,547 (GRCm39) T306I possibly damaging Het
Ubr5 T G 15: 38,015,337 (GRCm39) Y891S probably damaging Het
Vmn1r220 A G 13: 23,368,298 (GRCm39) F133L probably benign Het
Vmn1r56 T A 7: 5,198,700 (GRCm39) I306F possibly damaging Het
Vmn1r67 T C 7: 10,181,315 (GRCm39) V193A probably benign Het
Yipf1 T A 4: 107,202,354 (GRCm39) V239E probably damaging Het
Zfp7 G T 15: 76,775,629 (GRCm39) C557F probably damaging Het
Other mutations in Fmnl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00648:Fmnl3 APN 15 99,220,551 (GRCm39) missense probably damaging 1.00
IGL00672:Fmnl3 APN 15 99,223,562 (GRCm39) missense probably damaging 1.00
IGL00727:Fmnl3 APN 15 99,220,551 (GRCm39) missense probably damaging 1.00
IGL00754:Fmnl3 APN 15 99,220,551 (GRCm39) missense probably damaging 1.00
IGL00927:Fmnl3 APN 15 99,235,509 (GRCm39) critical splice donor site probably null
IGL02376:Fmnl3 APN 15 99,216,844 (GRCm39) missense possibly damaging 0.51
IGL02607:Fmnl3 APN 15 99,222,653 (GRCm39) missense probably damaging 1.00
IGL03323:Fmnl3 APN 15 99,219,162 (GRCm39) missense probably damaging 1.00
C9142:Fmnl3 UTSW 15 99,235,508 (GRCm39) splice site probably null
PIT4280001:Fmnl3 UTSW 15 99,219,134 (GRCm39) critical splice donor site probably null
R0003:Fmnl3 UTSW 15 99,219,013 (GRCm39) missense probably damaging 0.99
R0003:Fmnl3 UTSW 15 99,219,013 (GRCm39) missense probably damaging 0.99
R0116:Fmnl3 UTSW 15 99,220,619 (GRCm39) splice site probably benign
R0117:Fmnl3 UTSW 15 99,220,619 (GRCm39) splice site probably benign
R0137:Fmnl3 UTSW 15 99,220,619 (GRCm39) splice site probably benign
R0138:Fmnl3 UTSW 15 99,220,619 (GRCm39) splice site probably benign
R0701:Fmnl3 UTSW 15 99,219,188 (GRCm39) missense probably damaging 0.99
R2338:Fmnl3 UTSW 15 99,268,108 (GRCm39) missense probably benign 0.01
R3729:Fmnl3 UTSW 15 99,219,745 (GRCm39) missense probably damaging 0.99
R4707:Fmnl3 UTSW 15 99,221,362 (GRCm39) missense probably benign 0.00
R5346:Fmnl3 UTSW 15 99,229,871 (GRCm39) missense probably damaging 1.00
R5916:Fmnl3 UTSW 15 99,219,709 (GRCm39) missense probably damaging 0.99
R5951:Fmnl3 UTSW 15 99,223,791 (GRCm39) missense probably damaging 1.00
R5954:Fmnl3 UTSW 15 99,223,791 (GRCm39) missense probably damaging 1.00
R5957:Fmnl3 UTSW 15 99,223,791 (GRCm39) missense probably damaging 1.00
R6334:Fmnl3 UTSW 15 99,235,534 (GRCm39) missense probably damaging 1.00
R6891:Fmnl3 UTSW 15 99,223,754 (GRCm39) missense probably damaging 1.00
R7182:Fmnl3 UTSW 15 99,219,663 (GRCm39) missense probably damaging 0.99
R7423:Fmnl3 UTSW 15 99,227,281 (GRCm39) missense probably damaging 0.99
R7952:Fmnl3 UTSW 15 99,220,518 (GRCm39) missense probably damaging 0.97
R7977:Fmnl3 UTSW 15 99,225,979 (GRCm39) missense possibly damaging 0.89
R7987:Fmnl3 UTSW 15 99,225,979 (GRCm39) missense possibly damaging 0.89
R8749:Fmnl3 UTSW 15 99,219,322 (GRCm39) missense possibly damaging 0.88
R9397:Fmnl3 UTSW 15 99,225,938 (GRCm39) critical splice donor site probably null
R9598:Fmnl3 UTSW 15 99,223,210 (GRCm39) missense probably damaging 1.00
X0009:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0010:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0011:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0012:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0014:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0017:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0021:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0023:Fmnl3 UTSW 15 99,223,165 (GRCm39) missense probably damaging 1.00
X0023:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0028:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0033:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0060:Fmnl3 UTSW 15 99,217,919 (GRCm39) missense possibly damaging 0.69
X0064:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
X0067:Fmnl3 UTSW 15 99,220,208 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGGAAGTTGCCAAGAAAGG -3'
(R):5'- GAGCAGAGCATACTGACTCCAG -3'

Sequencing Primer
(F):5'- GCCATGCCAGCCATTCG -3'
(R):5'- ATACTGACTCCAGGCTGGGTC -3'
Posted On 2016-11-09