Incidental Mutation 'IGL02607:Fmnl3'
| ID |
300314 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fmnl3
|
| Ensembl Gene |
ENSMUSG00000023008 |
| Gene Name |
formin-like 3 |
| Synonyms |
Wbp3, 2700073B04Rik |
| Accession Numbers |
Genbank: NM_011711; MGI: 109569 |
| Is this an essential gene? |
Possibly essential
(E-score: 0.694)
|
| Stock # |
IGL02607
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99317225-99370482 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99324772 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 431
(L431Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081224]
[ENSMUST00000088233]
[ENSMUST00000120633]
|
| AlphaFold |
Q6ZPF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081224
AA Change: L380Q
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: L380Q
| 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: L431Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: L431Q
| 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 damaging
Transcript: ENSMUST00000120633
AA Change: L431Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: L431Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000139767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140368
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004E09Rik |
G |
A |
16: 90,929,947 |
T98M |
probably damaging |
Het |
| Abca17 |
C |
T |
17: 24,327,705 |
W307* |
probably null |
Het |
| Cit |
A |
G |
5: 115,859,209 |
I84V |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,706,714 |
D1132G |
probably benign |
Het |
| Cobll1 |
A |
T |
2: 65,151,085 |
S54T |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,754,584 |
R130G |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,862,327 |
M439V |
probably damaging |
Het |
| Dnajc15 |
T |
A |
14: 77,840,216 |
I110F |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,851,513 |
F824L |
probably benign |
Het |
| Eml2 |
A |
G |
7: 19,206,111 |
H617R |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 94,044,448 |
Q388L |
possibly damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,434,470 |
|
probably benign |
Het |
| Gng8 |
T |
C |
7: 16,894,934 |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,744,995 |
I1155F |
possibly damaging |
Het |
| Muc4 |
G |
T |
16: 32,775,819 |
C3135F |
possibly damaging |
Het |
| Mycbp2 |
C |
T |
14: 103,285,273 |
G685D |
probably damaging |
Het |
| Olfr1389 |
T |
C |
11: 49,430,512 |
F12S |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,357,581 |
I771F |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,794,101 |
|
probably null |
Het |
| Rrn3 |
G |
T |
16: 13,806,563 |
V420L |
possibly damaging |
Het |
| Samm50 |
A |
T |
15: 84,207,838 |
Y338F |
probably benign |
Het |
| Slc2a7 |
C |
T |
4: 150,154,705 |
T129I |
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,379,511 |
I806V |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,546,747 |
E699G |
unknown |
Het |
| Vmn2r85 |
T |
C |
10: 130,426,421 |
K150E |
possibly damaging |
Het |
|
| Other mutations in Fmnl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00648:Fmnl3
|
APN |
15 |
99322670 |
missense |
probably damaging |
1.00 |
|
IGL00672:Fmnl3
|
APN |
15 |
99325681 |
missense |
probably damaging |
1.00 |
|
IGL00727:Fmnl3
|
APN |
15 |
99322670 |
missense |
probably damaging |
1.00 |
|
IGL00754:Fmnl3
|
APN |
15 |
99322670 |
missense |
probably damaging |
1.00 |
|
IGL00927:Fmnl3
|
APN |
15 |
99337628 |
critical splice donor site |
probably null |
|
|
IGL02376:Fmnl3
|
APN |
15 |
99318963 |
missense |
possibly damaging |
0.51 |
|
IGL03323:Fmnl3
|
APN |
15 |
99321281 |
missense |
probably damaging |
1.00 |
|
C9142:Fmnl3
|
UTSW |
15 |
99337627 |
splice site |
probably null |
|
|
PIT4280001:Fmnl3
|
UTSW |
15 |
99321253 |
critical splice donor site |
probably null |
|
|
R0003:Fmnl3
|
UTSW |
15 |
99321132 |
missense |
probably damaging |
0.99 |
|
R0003:Fmnl3
|
UTSW |
15 |
99321132 |
missense |
probably damaging |
0.99 |
|
R0116:Fmnl3
|
UTSW |
15 |
99322738 |
splice site |
probably benign |
|
|
R0117:Fmnl3
|
UTSW |
15 |
99322738 |
splice site |
probably benign |
|
|
R0137:Fmnl3
|
UTSW |
15 |
99322738 |
splice site |
probably benign |
|
|
R0138:Fmnl3
|
UTSW |
15 |
99322738 |
splice site |
probably benign |
|
|
R0701:Fmnl3
|
UTSW |
15 |
99321307 |
missense |
probably damaging |
0.99 |
|
R2338:Fmnl3
|
UTSW |
15 |
99370227 |
missense |
probably benign |
0.01 |
|
R3729:Fmnl3
|
UTSW |
15 |
99321864 |
missense |
probably damaging |
0.99 |
|
R4707:Fmnl3
|
UTSW |
15 |
99323481 |
missense |
probably benign |
0.00 |
|
R5346:Fmnl3
|
UTSW |
15 |
99331990 |
missense |
probably damaging |
1.00 |
|
R5655:Fmnl3
|
UTSW |
15 |
99321862 |
missense |
probably damaging |
0.99 |
|
R5916:Fmnl3
|
UTSW |
15 |
99321828 |
missense |
probably damaging |
0.99 |
|
R5951:Fmnl3
|
UTSW |
15 |
99325910 |
missense |
probably damaging |
1.00 |
|
R5954:Fmnl3
|
UTSW |
15 |
99325910 |
missense |
probably damaging |
1.00 |
|
R5957:Fmnl3
|
UTSW |
15 |
99325910 |
missense |
probably damaging |
1.00 |
|
R6334:Fmnl3
|
UTSW |
15 |
99337653 |
missense |
probably damaging |
1.00 |
|
R6891:Fmnl3
|
UTSW |
15 |
99325873 |
missense |
probably damaging |
1.00 |
|
R7182:Fmnl3
|
UTSW |
15 |
99321782 |
missense |
probably damaging |
0.99 |
|
R7423:Fmnl3
|
UTSW |
15 |
99329400 |
missense |
probably damaging |
0.99 |
|
R7952:Fmnl3
|
UTSW |
15 |
99322637 |
missense |
probably damaging |
0.97 |
|
R7977:Fmnl3
|
UTSW |
15 |
99328098 |
missense |
possibly damaging |
0.89 |
|
R7987:Fmnl3
|
UTSW |
15 |
99328098 |
missense |
possibly damaging |
0.89 |
|
R8749:Fmnl3
|
UTSW |
15 |
99321441 |
missense |
possibly damaging |
0.88 |
|
R9397:Fmnl3
|
UTSW |
15 |
99328057 |
critical splice donor site |
probably null |
|
|
X0009:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0010:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0011:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0012:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0014:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0017:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0021:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0023:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0023:Fmnl3
|
UTSW |
15 |
99325284 |
missense |
probably damaging |
1.00 |
|
X0028:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0033:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0060:Fmnl3
|
UTSW |
15 |
99320038 |
missense |
possibly damaging |
0.69 |
|
X0064:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
X0067:Fmnl3
|
UTSW |
15 |
99322327 |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
