Incidental Mutation 'R6334:Fmnl3'
| ID |
510725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl3
|
| Ensembl Gene |
ENSMUSG00000023008 |
| Gene Name |
formin-like 3 |
| Synonyms |
2700073B04Rik, Wbp3 |
| MMRRC Submission |
044488-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.772)
|
| Stock # |
R6334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99215106-99268363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99235534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 63
(K63E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085566
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081224]
[ENSMUST00000088233]
[ENSMUST00000120633]
|
| AlphaFold |
Q6ZPF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081224
AA Change: K63E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: K63E
| 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: K63E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: K63E
| 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: K63E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: K63E
| 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
|
| Meta Mutation Damage Score |
0.5889 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,770,940 (GRCm39) |
S141T |
probably benign |
Het |
| Afap1l2 |
A |
G |
19: 56,906,408 (GRCm39) |
|
probably null |
Het |
| Aox1 |
C |
T |
1: 58,346,566 (GRCm39) |
Q567* |
probably null |
Het |
| Aqp4 |
T |
A |
18: 15,526,648 (GRCm39) |
M278L |
probably benign |
Het |
| Atp23 |
A |
C |
10: 126,723,538 (GRCm39) |
L188R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,905,782 (GRCm39) |
G215D |
probably benign |
Het |
| Cavin4 |
T |
C |
4: 48,663,824 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ccl4 |
T |
C |
11: 83,553,504 (GRCm39) |
S6P |
unknown |
Het |
| Cfap46 |
T |
C |
7: 139,260,747 (GRCm39) |
E117G |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,701,662 (GRCm39) |
|
probably null |
Het |
| Chek1 |
A |
G |
9: 36,625,788 (GRCm39) |
S286P |
possibly damaging |
Het |
| Cntn4 |
G |
A |
6: 106,321,747 (GRCm39) |
V35I |
probably benign |
Het |
| Cntn4 |
C |
A |
6: 106,483,153 (GRCm39) |
P236Q |
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,753 (GRCm39) |
G84V |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,427,989 (GRCm39) |
H205L |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,453,305 (GRCm39) |
V845I |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,216,292 (GRCm39) |
K7E |
possibly damaging |
Het |
| Eloa |
G |
A |
4: 135,737,133 (GRCm39) |
P488S |
probably damaging |
Het |
| Evi5 |
G |
A |
5: 107,968,387 (GRCm39) |
R187* |
probably null |
Het |
| Fam53a |
T |
A |
5: 33,758,219 (GRCm39) |
L301F |
probably damaging |
Het |
| Gast |
C |
A |
11: 100,227,438 (GRCm39) |
Q44K |
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,257 (GRCm39) |
V7E |
probably benign |
Het |
| Gtf3c5 |
G |
A |
2: 28,460,474 (GRCm39) |
T375I |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hspa14 |
A |
T |
2: 3,490,109 (GRCm39) |
|
probably null |
Het |
| Kcna3 |
T |
C |
3: 106,943,740 (GRCm39) |
M1T |
probably null |
Het |
| Kcnj15 |
T |
G |
16: 95,097,095 (GRCm39) |
L239R |
probably damaging |
Het |
| Klhl2 |
G |
T |
8: 65,212,842 (GRCm39) |
D232E |
probably benign |
Het |
| Lamb3 |
A |
T |
1: 193,017,782 (GRCm39) |
I888F |
probably damaging |
Het |
| Lars1 |
C |
A |
18: 42,350,551 (GRCm39) |
M919I |
probably benign |
Het |
| Lfng |
T |
C |
5: 140,598,522 (GRCm39) |
V247A |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 41,679,045 (GRCm39) |
A16T |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,341,270 (GRCm39) |
I235N |
probably damaging |
Het |
| Map9 |
T |
A |
3: 82,290,612 (GRCm39) |
L492Q |
probably damaging |
Het |
| Mcpt8 |
A |
G |
14: 56,322,604 (GRCm39) |
V14A |
possibly damaging |
Het |
| Myo1b |
T |
C |
1: 51,807,810 (GRCm39) |
K823R |
probably null |
Het |
| Nbea |
G |
T |
3: 55,944,570 (GRCm39) |
T598K |
probably damaging |
Het |
| Nrcam |
C |
A |
12: 44,619,083 (GRCm39) |
H877N |
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,581,322 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,957,596 (GRCm39) |
I309F |
possibly damaging |
Het |
| Phyhd1 |
G |
A |
2: 30,164,736 (GRCm39) |
|
probably null |
Het |
| Pkp2 |
C |
T |
16: 16,043,933 (GRCm39) |
T229I |
probably damaging |
Het |
| Plagl2 |
G |
A |
2: 153,074,611 (GRCm39) |
P97S |
probably benign |
Het |
| Plekhh2 |
C |
A |
17: 84,874,294 (GRCm39) |
N526K |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,410,261 (GRCm39) |
L1217P |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,527,222 (GRCm39) |
S67P |
possibly damaging |
Het |
| Postn |
A |
G |
3: 54,292,703 (GRCm39) |
K757E |
probably benign |
Het |
| Prpf39 |
T |
A |
12: 65,089,587 (GRCm39) |
|
probably null |
Het |
| Ptprg |
C |
T |
14: 12,166,832 (GRCm38) |
T745I |
probably damaging |
Het |
| Pxylp1 |
C |
G |
9: 96,707,307 (GRCm39) |
A292P |
probably damaging |
Het |
| Rpl35 |
G |
T |
2: 38,891,754 (GRCm39) |
D82E |
possibly damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,149,519 (GRCm39) |
V782I |
possibly damaging |
Het |
| Syn2 |
T |
A |
6: 115,240,875 (GRCm39) |
M415K |
possibly damaging |
Het |
| Tmem117 |
A |
C |
15: 94,909,324 (GRCm39) |
I246L |
probably benign |
Het |
| Tmem221 |
A |
T |
8: 72,011,428 (GRCm39) |
V9E |
probably damaging |
Het |
| Trav13-5 |
A |
G |
14: 54,033,399 (GRCm39) |
T103A |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,007 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
G |
T |
17: 19,810,112 (GRCm39) |
M299I |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,014,344 (GRCm39) |
S379T |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,761,440 (GRCm39) |
N639S |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,030,771 (GRCm39) |
|
|
Het |
| Zfp109 |
T |
A |
7: 23,928,308 (GRCm39) |
Y367F |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,685,338 (GRCm39) |
C389Y |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,836,064 (GRCm39) |
|
probably null |
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 |
|
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'- GACTGCACCTCCTGATCTTG -3'
(R):5'- TTGTTCAACCAAGCTTGACAG -3'
Sequencing Primer
(F):5'- TGATCTTGCCAAGCTCATACCAAG -3'
(R):5'- TCAACCAAGCTTGACAGTGGGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation