Incidental Mutation 'R8749:Fmnl3'
ID 663732
Institutional Source Beutler Lab
Gene Symbol Fmnl3
Ensembl Gene ENSMUSG00000023008
Gene Name formin-like 3
Synonyms 2700073B04Rik, Wbp3
MMRRC Submission 068592-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.706) question?
Stock # R8749 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 99215106-99268363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99219322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 766 (M766K)
Ref Sequence ENSEMBL: ENSMUSP00000085566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023745] [ENSMUST00000081224] [ENSMUST00000088233] [ENSMUST00000118287] [ENSMUST00000120633] [ENSMUST00000126955] [ENSMUST00000136980] [ENSMUST00000145482] [ENSMUST00000150636]
AlphaFold Q6ZPF4
Predicted Effect probably benign
Transcript: ENSMUST00000023745
SMART Domains Protein: ENSMUSP00000023745
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 693 776 N/A INTRINSIC
low complexity region 777 796 N/A INTRINSIC
low complexity region 809 825 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000081224
AA Change: M715K

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: M715K

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 possibly damaging
Transcript: ENSMUST00000088233
AA Change: M766K

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: M766K

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: M766K

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: M766K

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: ENSMUST00000134034
SMART Domains Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007

DomainStartEndE-ValueType
Pfam:FF 11 62 2.2e-7 PFAM
low complexity region 77 92 N/A INTRINSIC
low complexity region 103 164 N/A INTRINSIC
low complexity region 165 184 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
low complexity region 232 253 N/A INTRINSIC
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 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
Predicted Effect probably benign
Transcript: ENSMUST00000150636
SMART Domains Protein: ENSMUSP00000119295
Gene: ENSMUSG00000023007

DomainStartEndE-ValueType
Pfam:FF 1 52 1.2e-7 PFAM
low complexity region 67 82 N/A INTRINSIC
Meta Mutation Damage Score 0.5203 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 C T 13: 4,320,155 (GRCm39) probably benign Het
Ap3b1 T A 13: 94,664,725 (GRCm39) M888K unknown Het
Arhgap23 T A 11: 97,391,641 (GRCm39) V223E probably damaging Het
Atm C T 9: 53,410,497 (GRCm39) W1028* probably null Het
Atp7b A G 8: 22,518,334 (GRCm39) V168A probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Caskin1 C T 17: 24,723,774 (GRCm39) A854V probably benign Het
Cdcp1 T C 9: 123,019,027 (GRCm39) N84S probably benign Het
Cdh20 T A 1: 110,027,009 (GRCm39) I475N probably damaging Het
Ciz1 A T 2: 32,255,848 (GRCm39) Y107F probably benign Het
Creb3l4 T C 3: 90,145,199 (GRCm39) N318D probably benign Het
Dmrt3 G A 19: 25,588,550 (GRCm39) A130T probably benign Het
Dmxl1 A T 18: 50,088,937 (GRCm39) K2805N probably damaging Het
Dusp15 T A 2: 152,788,209 (GRCm39) I63F probably damaging Het
Dync2h1 T C 9: 7,035,063 (GRCm39) Q3462R probably benign Het
Evpl A G 11: 116,120,232 (GRCm39) C569R probably benign Het
G6pc2 A G 2: 69,057,140 (GRCm39) N262S probably damaging Het
Galk1 A T 11: 115,899,762 (GRCm39) L325Q probably damaging Het
H3c3 T C 13: 23,929,108 (GRCm39) I125V probably benign Het
Hr G A 14: 70,795,510 (GRCm39) G352R probably damaging Het
Il12b A T 11: 44,294,864 (GRCm39) M1L not run Het
Lpar6 A T 14: 73,476,950 (GRCm39) M304L probably benign Het
Mpeg1 G A 19: 12,439,291 (GRCm39) A250T probably benign Het
Mtcl3 T C 10: 29,072,721 (GRCm39) I671T possibly damaging Het
Neb T C 2: 52,180,863 (GRCm39) K1221R probably benign Het
Ogfrl1 T A 1: 23,409,399 (GRCm39) I276F probably damaging Het
Or4f62 A G 2: 111,986,869 (GRCm39) D191G possibly damaging Het
Or4k37 T C 2: 111,158,817 (GRCm39) C18R possibly damaging Het
Or4x12-ps1 T C 2: 89,916,631 (GRCm39) Y58C probably damaging Het
Oxr1 A G 15: 41,574,260 (GRCm39) N2S probably benign Het
P3h3 G A 6: 124,822,940 (GRCm39) R505C probably damaging Het
Pcdhb16 A T 18: 37,612,392 (GRCm39) I451F possibly damaging Het
Pet117 C A 2: 144,215,122 (GRCm39) D36E probably benign Het
Prf1 T C 10: 61,138,948 (GRCm39) V302A probably damaging Het
Prkdc G A 16: 15,601,029 (GRCm39) A2897T possibly damaging Het
Prkra A G 2: 76,460,879 (GRCm39) L273P probably damaging Het
Prr30 T A 14: 101,436,365 (GRCm39) T66S probably benign Het
Slc29a4 A G 5: 142,700,819 (GRCm39) Y188C probably damaging Het
Spink5 A T 18: 44,122,425 (GRCm39) K297* probably null Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tmem100 G A 11: 89,926,574 (GRCm39) A134T probably damaging Het
Tmem132c A G 5: 127,437,003 (GRCm39) D164G possibly damaging Het
Tnfsf18 A G 1: 161,331,047 (GRCm39) T66A possibly damaging Het
Ubr4 C T 4: 139,129,935 (GRCm39) T685I probably damaging Het
Uck1 T C 2: 32,146,524 (GRCm39) Y185C Het
Umod T A 7: 119,070,639 (GRCm39) I418F probably benign Het
Upp1 A T 11: 9,079,561 (GRCm39) S41C probably damaging Het
Vmn1r168 A T 7: 23,240,428 (GRCm39) Y95F probably benign Het
Vmn1r180 G T 7: 23,652,415 (GRCm39) D193Y probably damaging Het
Vmn2r11 A G 5: 109,195,319 (GRCm39) V669A probably damaging Het
Vmn2r55 T A 7: 12,385,796 (GRCm39) Y728F probably damaging Het
Vmn2r78 A G 7: 86,603,513 (GRCm39) T564A possibly damaging Het
Vps13d T A 4: 144,865,183 (GRCm39) N2057I Het
Wdfy3 C T 5: 102,030,446 (GRCm39) R2354Q probably damaging Het
Wdr77 T A 3: 105,866,975 (GRCm39) C26S probably damaging Het
Yif1b C T 7: 28,946,690 (GRCm39) A267V probably benign Het
Zfp316 A G 5: 143,248,565 (GRCm39) V227A unknown Het
Zfp600 T A 4: 146,133,151 (GRCm39) H606Q unknown Het
Zfp804a T C 2: 82,087,919 (GRCm39) W583R probably benign Het
Zfp961 T C 8: 72,719,686 (GRCm39) W39R probably damaging Het
Zfp990 T A 4: 145,264,156 (GRCm39) C385S 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
R5655:Fmnl3 UTSW 15 99,219,743 (GRCm39) missense probably damaging 0.99
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
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'- AGCTTGAAGCCGTAGACAGC -3'
(R):5'- TCTTGGCAACTTCCAGGACAATC -3'

Sequencing Primer
(F):5'- TTGAAGCCGTAGACAGCACCTC -3'
(R):5'- TTCCAGGACAATCTGCAGATG -3'
Posted On 2021-03-08