Incidental Mutation 'R7952:Fmnl3'
| ID |
649636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl3
|
| Ensembl Gene |
ENSMUSG00000023008 |
| Gene Name |
formin-like 3 |
| Synonyms |
2700073B04Rik, Wbp3 |
| MMRRC Submission |
045996-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.772)
|
| Stock # |
R7952 (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 G
at 99220518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 588
(V588A)
|
| 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: V537A
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: V537A
| 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: V588A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: V588A
| 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: V588A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: V588A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (47/48) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,579,903 (GRCm39) |
S516P |
possibly damaging |
Het |
| Adora1 |
A |
G |
1: 134,131,024 (GRCm39) |
S216P |
possibly damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,885,914 (GRCm39) |
S739R |
probably benign |
Het |
| Bphl |
A |
G |
13: 34,230,780 (GRCm39) |
T75A |
probably benign |
Het |
| Ccdc73 |
G |
A |
2: 104,775,801 (GRCm39) |
|
probably null |
Het |
| Cela3b |
T |
C |
4: 137,149,219 (GRCm39) |
I262V |
probably benign |
Het |
| Chpf |
T |
C |
1: 75,455,586 (GRCm39) |
N55S |
probably benign |
Het |
| Chst8 |
A |
G |
7: 34,374,919 (GRCm39) |
Y307H |
probably damaging |
Het |
| Cmtm2b |
G |
T |
8: 105,057,203 (GRCm39) |
E188* |
probably null |
Het |
| Cmya5 |
TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG |
TTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAGGCGCATGCTCCTCCTCTCTGTGGACTATGGGCTCAG |
13: 93,233,512 (GRCm39) |
|
probably benign |
Het |
| Cxadr |
C |
T |
16: 78,131,123 (GRCm39) |
T213M |
possibly damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,703,096 (GRCm39) |
|
probably null |
Het |
| Dhx32 |
T |
C |
7: 133,350,725 (GRCm39) |
Y115C |
probably benign |
Het |
| Dop1b |
C |
A |
16: 93,546,848 (GRCm39) |
T284K |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,129,802 (GRCm39) |
V1732A |
possibly damaging |
Het |
| Egf |
C |
T |
3: 129,533,645 (GRCm39) |
R65Q |
probably damaging |
Het |
| Fat4 |
T |
G |
3: 38,945,870 (GRCm39) |
S1588A |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,928,186 (GRCm39) |
E237K |
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,298,633 (GRCm39) |
I363V |
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,598,340 (GRCm39) |
T769I |
probably damaging |
Het |
| Hpd |
A |
T |
5: 123,316,327 (GRCm39) |
D141E |
possibly damaging |
Het |
| Hrc |
A |
T |
7: 44,985,692 (GRCm39) |
D281V |
probably damaging |
Het |
| Igfn1 |
A |
T |
1: 135,891,693 (GRCm39) |
I2274K |
probably damaging |
Het |
| Iqgap3 |
A |
G |
3: 88,005,677 (GRCm39) |
I502V |
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,266,493 (GRCm39) |
Q835L |
probably benign |
Het |
| Kmt2d |
C |
T |
15: 98,748,649 (GRCm39) |
G2892R |
unknown |
Het |
| Lama4 |
T |
G |
10: 38,906,486 (GRCm39) |
I284S |
probably benign |
Het |
| Madd |
C |
A |
2: 90,992,886 (GRCm39) |
G1011V |
probably damaging |
Het |
| Mroh2b |
T |
C |
15: 4,980,693 (GRCm39) |
F1421L |
probably damaging |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nedd9 |
C |
A |
13: 41,470,431 (GRCm39) |
D241Y |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,007,552 (GRCm39) |
V434A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,433,781 (GRCm39) |
R108Q |
probably benign |
Het |
| Or10al2 |
T |
C |
17: 37,983,708 (GRCm39) |
Y265H |
probably damaging |
Het |
| Or51g1 |
A |
G |
7: 102,633,721 (GRCm39) |
F217L |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pramel41 |
T |
C |
5: 94,594,902 (GRCm39) |
V254A |
probably benign |
Het |
| Prss55 |
A |
G |
14: 64,313,132 (GRCm39) |
Y251H |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,862,760 (GRCm39) |
V573A |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,661,313 (GRCm39) |
|
probably null |
Het |
| Sec31b |
A |
G |
19: 44,508,979 (GRCm39) |
S667P |
probably benign |
Het |
| Smim17 |
A |
G |
7: 6,427,849 (GRCm39) |
D45G |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,464,263 (GRCm39) |
T3906A |
probably damaging |
Het |
| Tanc2 |
G |
T |
11: 105,787,423 (GRCm39) |
G908W |
probably damaging |
Het |
| Tcf7l2 |
A |
T |
19: 55,886,989 (GRCm39) |
M1L |
probably benign |
Het |
| Tpx2 |
C |
T |
2: 152,735,514 (GRCm39) |
A714V |
probably damaging |
Het |
| Trgc4 |
T |
A |
13: 19,533,740 (GRCm39) |
S121R |
|
Het |
| Trmt1 |
G |
A |
8: 85,415,969 (GRCm39) |
R9H |
possibly damaging |
Het |
| Unc13a |
A |
T |
8: 72,111,131 (GRCm39) |
V360E |
possibly damaging |
Het |
| Vmn1r225 |
T |
A |
17: 20,722,589 (GRCm39) |
I10N |
probably damaging |
Het |
| Xkr4 |
A |
G |
1: 3,740,842 (GRCm39) |
S244P |
possibly damaging |
Het |
| Zkscan14 |
G |
T |
5: 145,132,708 (GRCm39) |
H274Q |
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 |
|
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 |
|
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'- CCTGCAGTCGTGACTAGATAATGG -3'
(R):5'- TCTTCCCAGACAAGTGTCCC -3'
Sequencing Primer
(F):5'- ACTAGATAATGGGGTCAGTCTTGCTC -3'
(R):5'- CCTGTCAGGTGAGTGTCCTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation