Incidental Mutation 'R5951:Fmnl3'
| ID |
470916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl3
|
| Ensembl Gene |
ENSMUSG00000023008 |
| Gene Name |
formin-like 3 |
| Synonyms |
2700073B04Rik, Wbp3 |
| MMRRC Submission |
044141-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.706)
|
| Stock # |
R5951 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99215106-99268363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99223791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 302
(R302W)
|
| 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: R251W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: R251W
| 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: R302W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: R302W
| 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: R302W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: R302W
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (78/78) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,811 (GRCm39) |
E180D |
probably damaging |
Het |
| Add3 |
A |
G |
19: 53,232,720 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,590,620 (GRCm39) |
I4396N |
probably damaging |
Het |
| Apc |
C |
T |
18: 34,450,199 (GRCm39) |
S2331L |
possibly damaging |
Het |
| Apoh |
G |
T |
11: 108,286,729 (GRCm39) |
C51F |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,317,648 (GRCm39) |
V177A |
possibly damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,249,935 (GRCm39) |
I343N |
probably damaging |
Het |
| Bcar1 |
T |
C |
8: 112,440,032 (GRCm39) |
D654G |
probably benign |
Het |
| Brox |
T |
C |
1: 183,064,072 (GRCm39) |
K245R |
probably damaging |
Het |
| Ccdc146 |
A |
T |
5: 21,524,577 (GRCm39) |
S258R |
possibly damaging |
Het |
| Ccdc169 |
A |
C |
3: 55,047,562 (GRCm39) |
K18Q |
probably damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Crot |
C |
A |
5: 9,019,120 (GRCm39) |
E478* |
probably null |
Het |
| Dgkq |
A |
T |
5: 108,802,236 (GRCm39) |
M443K |
probably damaging |
Het |
| Dhx32 |
A |
T |
7: 133,339,057 (GRCm39) |
L326Q |
probably damaging |
Het |
| Dtwd1 |
A |
G |
2: 126,000,342 (GRCm39) |
I93V |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,357 (GRCm39) |
T44I |
probably benign |
Het |
| Enc1 |
T |
C |
13: 97,381,765 (GRCm39) |
S92P |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,479,051 (GRCm39) |
|
probably benign |
Het |
| Eya4 |
T |
A |
10: 23,031,892 (GRCm39) |
S244C |
probably damaging |
Het |
| Fscn3 |
A |
T |
6: 28,436,173 (GRCm39) |
I490F |
possibly damaging |
Het |
| Galntl6 |
A |
G |
8: 58,415,436 (GRCm39) |
V239A |
probably benign |
Het |
| Glg1 |
T |
C |
8: 111,892,323 (GRCm39) |
I841V |
possibly damaging |
Het |
| Gm15455 |
T |
C |
1: 33,876,893 (GRCm39) |
|
noncoding transcript |
Het |
| Gpd1l |
C |
T |
9: 114,743,473 (GRCm39) |
M142I |
probably benign |
Het |
| Helb |
A |
G |
10: 119,927,653 (GRCm39) |
V819A |
possibly damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,802,255 (GRCm39) |
F374C |
probably damaging |
Het |
| Hoxc10 |
G |
A |
15: 102,875,753 (GRCm39) |
S154N |
possibly damaging |
Het |
| Ice2 |
A |
T |
9: 69,319,651 (GRCm39) |
T367S |
possibly damaging |
Het |
| Iqca1 |
A |
T |
1: 90,067,819 (GRCm39) |
|
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Klhl14 |
T |
A |
18: 21,784,677 (GRCm39) |
H250L |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,535,801 (GRCm39) |
D1447E |
probably benign |
Het |
| Larp1 |
G |
T |
11: 57,940,765 (GRCm39) |
M630I |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,326,667 (GRCm39) |
|
probably null |
Het |
| Map4k3 |
G |
T |
17: 80,911,427 (GRCm39) |
Q673K |
probably benign |
Het |
| Mettl16 |
A |
G |
11: 74,686,823 (GRCm39) |
N201D |
possibly damaging |
Het |
| Mrpl15 |
C |
A |
1: 4,855,956 (GRCm39) |
|
probably benign |
Het |
| Mthfd1l |
T |
A |
10: 3,998,222 (GRCm39) |
V655D |
probably damaging |
Het |
| Odf1 |
T |
C |
15: 38,226,531 (GRCm39) |
Y144H |
probably damaging |
Het |
| Or2f1b |
G |
T |
6: 42,739,493 (GRCm39) |
C169F |
probably damaging |
Het |
| Or5t5 |
G |
T |
2: 86,616,571 (GRCm39) |
V166L |
probably benign |
Het |
| Padi1 |
T |
C |
4: 140,542,140 (GRCm39) |
Y594C |
probably damaging |
Het |
| Palm3 |
T |
A |
8: 84,756,049 (GRCm39) |
D520E |
probably benign |
Het |
| Paox |
G |
A |
7: 139,707,567 (GRCm39) |
C130Y |
probably damaging |
Het |
| Parpbp |
T |
A |
10: 87,975,769 (GRCm39) |
S115C |
probably damaging |
Het |
| Pcnx3 |
A |
G |
19: 5,721,708 (GRCm39) |
V1438A |
possibly damaging |
Het |
| Pdlim2 |
T |
A |
14: 70,405,229 (GRCm39) |
D212V |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,121,006 (GRCm39) |
F53L |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,967,419 (GRCm39) |
D839E |
probably damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,710,625 (GRCm39) |
|
probably benign |
Het |
| Ppl |
A |
T |
16: 4,906,492 (GRCm39) |
Y1268N |
probably benign |
Het |
| Prelid3a |
C |
T |
18: 67,598,011 (GRCm39) |
S6L |
probably benign |
Het |
| Ptk2 |
T |
G |
15: 73,175,682 (GRCm39) |
D285A |
possibly damaging |
Het |
| Rasd2 |
T |
G |
8: 75,948,811 (GRCm39) |
Y246D |
probably damaging |
Het |
| Rhbdl2 |
A |
G |
4: 123,708,120 (GRCm39) |
T110A |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,085 (GRCm39) |
F217I |
probably damaging |
Het |
| Serhl |
T |
C |
15: 82,987,237 (GRCm39) |
|
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,078 (GRCm39) |
E613G |
probably damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,502,714 (GRCm39) |
|
probably benign |
Het |
| Steap4 |
T |
C |
5: 8,025,769 (GRCm39) |
I110T |
probably benign |
Het |
| Syde1 |
C |
A |
10: 78,425,150 (GRCm39) |
R287L |
possibly damaging |
Het |
| Tmem184c |
C |
T |
8: 78,325,291 (GRCm39) |
|
probably null |
Het |
| Trmt44 |
C |
A |
5: 35,730,032 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
G |
T |
2: 120,603,764 (GRCm39) |
S256R |
probably benign |
Het |
| Ttll6 |
A |
T |
11: 96,036,336 (GRCm39) |
I322F |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,205,753 (GRCm39) |
|
probably null |
Het |
| Wsb2 |
A |
T |
5: 117,515,600 (GRCm39) |
T402S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGAGTGCACCACAATGTTG -3'
(R):5'- CTGGTGTCCAAAATGGCACAG -3'
Sequencing Primer
(F):5'- GTGCACCACAATGTTGATGAACTG -3'
(R):5'- TGGCCTGAAACTATGGCAGTC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation