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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |