Incidental Mutation 'IGL03323:Fmnl3'
| ID |
416551 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fmnl3
|
| Ensembl Gene |
ENSMUSG00000023008 |
| Gene Name |
formin-like 3 |
| Synonyms |
2700073B04Rik, Wbp3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.706)
|
| Stock # |
IGL03323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99215106-99268363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99219162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 787
(G787S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023745]
[ENSMUST00000081224]
[ENSMUST00000088233]
[ENSMUST00000118287]
[ENSMUST00000120633]
[ENSMUST00000126955]
[ENSMUST00000145482]
[ENSMUST00000150636]
[ENSMUST00000136980]
|
| AlphaFold |
Q6ZPF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023745
|
| SMART Domains |
Protein: ENSMUSP00000023745
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 |
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: G736S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: G736S
| 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: G787S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: G787S
| 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: G787S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: G787S
| 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: ENSMUST00000134034
|
| SMART Domains |
Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000150641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139767
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150636
|
| SMART Domains |
Protein: ENSMUSP00000119295
Gene: ENSMUSG00000023007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FF
|
1 |
52 |
1.2e-7 |
PFAM |
|
low complexity region
|
67 |
82 |
N/A |
INTRINSIC |
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
A |
T |
14: 103,292,730 (GRCm39) |
D418V |
probably damaging |
Het |
| Ahdc1 |
G |
A |
4: 132,792,739 (GRCm39) |
G1327S |
probably benign |
Het |
| Bcl2l15 |
A |
T |
3: 103,740,719 (GRCm39) |
I62L |
probably benign |
Het |
| Ccdc7a |
A |
T |
8: 129,785,244 (GRCm39) |
D105E |
probably benign |
Het |
| Cldn12 |
C |
A |
5: 5,558,421 (GRCm39) |
G2V |
probably damaging |
Het |
| Eapp |
G |
T |
12: 54,720,400 (GRCm39) |
H272N |
probably damaging |
Het |
| Fcrla |
A |
G |
1: 170,755,114 (GRCm39) |
|
probably benign |
Het |
| Fmo5 |
G |
T |
3: 97,546,323 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
G |
T |
16: 36,733,815 (GRCm39) |
E1021* |
probably null |
Het |
| Hspa4 |
A |
T |
11: 53,155,960 (GRCm39) |
N648K |
probably benign |
Het |
| Iigp1 |
T |
C |
18: 60,522,896 (GRCm39) |
F5L |
probably benign |
Het |
| Lad1 |
T |
A |
1: 135,758,712 (GRCm39) |
|
probably null |
Het |
| Man2b2 |
T |
C |
5: 36,975,858 (GRCm39) |
D399G |
probably benign |
Het |
| Mc5r |
C |
T |
18: 68,472,286 (GRCm39) |
T215I |
probably benign |
Het |
| Mx2 |
A |
G |
16: 97,347,575 (GRCm39) |
S156G |
probably damaging |
Het |
| Necap2 |
A |
T |
4: 140,795,533 (GRCm39) |
I242N |
possibly damaging |
Het |
| Nme8 |
C |
T |
13: 19,873,120 (GRCm39) |
E175K |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,801,445 (GRCm39) |
C1098S |
probably damaging |
Het |
| Or1j16 |
T |
A |
2: 36,530,153 (GRCm39) |
M34K |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,434 (GRCm39) |
Y132H |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,919,656 (GRCm39) |
|
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,607,162 (GRCm39) |
S968P |
probably damaging |
Het |
| Qsox2 |
A |
G |
2: 26,110,991 (GRCm39) |
S125P |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,460 (GRCm39) |
T598A |
probably benign |
Het |
| Slc2a2 |
G |
A |
3: 28,780,439 (GRCm39) |
M375I |
probably damaging |
Het |
| Tmed9 |
C |
T |
13: 55,744,691 (GRCm39) |
T173I |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,181,184 (GRCm39) |
D402G |
probably damaging |
Het |
| Ttc21a |
G |
T |
9: 119,769,602 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,511,295 (GRCm39) |
M503V |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation