Incidental Mutation 'IGL00927:Fmnl3'
ID |
29065 |
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 # |
IGL00927
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
99215106-99268363 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 99235509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113094
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081224]
[ENSMUST00000088233]
[ENSMUST00000088233]
[ENSMUST00000088233]
[ENSMUST00000088233]
[ENSMUST00000088233]
[ENSMUST00000120633]
|
AlphaFold |
Q6ZPF4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000081224
|
SMART Domains |
Protein: ENSMUSP00000079984 Gene: ENSMUSG00000023008
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 null
Transcript: ENSMUST00000088233
|
SMART Domains |
Protein: ENSMUSP00000085566 Gene: ENSMUSG00000023008
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 null
Transcript: ENSMUST00000088233
|
SMART Domains |
Protein: ENSMUSP00000085566 Gene: ENSMUSG00000023008
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 null
Transcript: ENSMUST00000088233
|
SMART Domains |
Protein: ENSMUSP00000085566 Gene: ENSMUSG00000023008
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 null
Transcript: ENSMUST00000088233
|
SMART Domains |
Protein: ENSMUSP00000085566 Gene: ENSMUSG00000023008
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 null
Transcript: ENSMUST00000088233
|
SMART Domains |
Protein: ENSMUSP00000085566 Gene: ENSMUSG00000023008
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 null
Transcript: ENSMUST00000120633
|
SMART Domains |
Protein: ENSMUSP00000113094 Gene: ENSMUSG00000023008
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: 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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,099,674 (GRCm39) |
T92A |
probably damaging |
Het |
Ankhd1 |
A |
G |
18: 36,765,125 (GRCm39) |
S1007G |
probably benign |
Het |
Cabp4 |
A |
T |
19: 4,189,406 (GRCm39) |
S50R |
possibly damaging |
Het |
Camp |
A |
T |
9: 109,678,336 (GRCm39) |
L56Q |
probably damaging |
Het |
Cblb |
A |
G |
16: 51,986,461 (GRCm39) |
N568S |
probably benign |
Het |
Ccr6 |
C |
A |
17: 8,474,825 (GRCm39) |
T10K |
probably benign |
Het |
Chit1 |
T |
C |
1: 134,072,992 (GRCm39) |
F106S |
probably damaging |
Het |
Cyb561d1 |
A |
G |
3: 108,106,943 (GRCm39) |
L34P |
probably damaging |
Het |
Dcun1d1 |
A |
T |
3: 35,975,114 (GRCm39) |
|
probably benign |
Het |
Deup1 |
A |
G |
9: 15,521,967 (GRCm39) |
|
probably benign |
Het |
Erich1 |
A |
G |
8: 14,083,518 (GRCm39) |
F184S |
probably damaging |
Het |
Grk2 |
T |
C |
19: 4,337,982 (GRCm39) |
N508S |
probably benign |
Het |
Herc4 |
A |
G |
10: 63,109,316 (GRCm39) |
I184V |
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Ift56 |
T |
C |
6: 38,359,155 (GRCm39) |
|
probably benign |
Het |
Kif3b |
G |
A |
2: 153,158,381 (GRCm39) |
A61T |
possibly damaging |
Het |
Kmt2d |
G |
A |
15: 98,742,890 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
C |
A |
3: 157,866,727 (GRCm39) |
V1005L |
possibly damaging |
Het |
Lrrtm1 |
A |
T |
6: 77,221,046 (GRCm39) |
M168L |
probably benign |
Het |
Ndc1 |
C |
T |
4: 107,241,977 (GRCm39) |
|
probably benign |
Het |
Nphs1 |
A |
G |
7: 30,160,164 (GRCm39) |
|
probably benign |
Het |
Or52w1 |
A |
T |
7: 105,018,454 (GRCm39) |
Y298F |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,907,734 (GRCm39) |
V200A |
probably benign |
Het |
Pcdhb21 |
A |
G |
18: 37,647,606 (GRCm39) |
Y245C |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,740,918 (GRCm39) |
T1055A |
probably damaging |
Het |
Plcl2 |
C |
T |
17: 50,913,948 (GRCm39) |
S319L |
probably benign |
Het |
Plekha8 |
C |
A |
6: 54,606,822 (GRCm39) |
Y372* |
probably null |
Het |
Ralb |
T |
A |
1: 119,399,506 (GRCm39) |
N184I |
probably benign |
Het |
Robo3 |
C |
T |
9: 37,339,050 (GRCm39) |
|
probably null |
Het |
Slc41a1 |
T |
A |
1: 131,766,914 (GRCm39) |
L144H |
probably damaging |
Het |
Smg1 |
C |
T |
7: 117,739,855 (GRCm39) |
G3364D |
probably damaging |
Het |
Spmap2 |
A |
G |
10: 79,412,433 (GRCm39) |
S329P |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,216 (GRCm39) |
V36D |
possibly damaging |
Het |
Zbtb7c |
T |
C |
18: 76,278,921 (GRCm39) |
S460P |
possibly damaging |
Het |
Zscan30 |
T |
C |
18: 24,104,834 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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 |
2013-04-17 |