Incidental Mutation 'R9334:Filip1'
| ID |
707003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R9334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79725739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 960
(V960D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093811]
[ENSMUST00000172973]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093811
AA Change: V960D
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: V960D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
71 |
256 |
2.1e-64 |
PFAM |
|
coiled coil region
|
258 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
545 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
592 |
N/A |
INTRINSIC |
|
coiled coil region
|
625 |
778 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
940 |
N/A |
INTRINSIC |
|
low complexity region
|
1126 |
1140 |
N/A |
INTRINSIC |
|
low complexity region
|
1168 |
1180 |
N/A |
INTRINSIC |
|
low complexity region
|
1198 |
1214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172973
|
| SMART Domains |
Protein: ENSMUSP00000134427
Gene: ENSMUSG00000034898
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
65 |
225 |
5.2e-74 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
A |
T |
1: 36,739,251 (GRCm39) |
I346N |
probably damaging |
Het |
| Adam6b |
A |
C |
12: 113,454,768 (GRCm39) |
E528D |
probably damaging |
Het |
| Ang |
A |
G |
14: 51,339,017 (GRCm39) |
M53V |
possibly damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,509,262 (GRCm39) |
A601V |
probably benign |
Het |
| Atp6v0d2 |
A |
G |
4: 19,890,695 (GRCm39) |
L155P |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,296,594 (GRCm39) |
V1204A |
probably damaging |
Het |
| Car4 |
A |
G |
11: 84,855,415 (GRCm39) |
I183V |
probably benign |
Het |
| Ccdc149 |
G |
T |
5: 52,578,171 (GRCm39) |
A87E |
possibly damaging |
Het |
| Ccdc88b |
A |
G |
19: 6,833,541 (GRCm39) |
M208T |
possibly damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,723,046 (GRCm39) |
L162S |
probably damaging |
Het |
| Cd27 |
A |
G |
6: 125,213,718 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
C |
A |
16: 44,239,654 (GRCm39) |
T567K |
probably damaging |
Het |
| Cpne5 |
C |
T |
17: 29,423,673 (GRCm39) |
V152M |
probably benign |
Het |
| Cyp2u1 |
C |
T |
3: 131,092,065 (GRCm39) |
V152M |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,051,659 (GRCm39) |
F1733I |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,403,027 (GRCm39) |
Y1409C |
probably damaging |
Het |
| Ecm2 |
T |
C |
13: 49,677,815 (GRCm39) |
M367T |
probably benign |
Het |
| Eif4g2 |
A |
G |
7: 110,674,031 (GRCm39) |
S658P |
possibly damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,397,117 (GRCm39) |
L666P |
probably damaging |
Het |
| Fbxl4 |
G |
A |
4: 22,376,778 (GRCm39) |
M71I |
probably damaging |
Het |
| Fbxw10 |
T |
C |
11: 62,765,910 (GRCm39) |
S727P |
possibly damaging |
Het |
| Fem1b |
A |
T |
9: 62,703,604 (GRCm39) |
L552* |
probably null |
Het |
| Glipr1l3 |
A |
T |
10: 111,979,948 (GRCm39) |
M198K |
probably benign |
Het |
| Gm19410 |
T |
A |
8: 36,270,722 (GRCm39) |
C1216* |
probably null |
Het |
| Gmps |
T |
A |
3: 63,889,864 (GRCm39) |
V81E |
probably damaging |
Het |
| Gpr150 |
G |
T |
13: 76,204,103 (GRCm39) |
Q281K |
probably benign |
Het |
| Grsf1 |
A |
G |
5: 88,820,469 (GRCm39) |
V221A |
probably damaging |
Het |
| Gsc |
T |
A |
12: 104,439,353 (GRCm39) |
I8F |
probably damaging |
Het |
| Homer2 |
A |
T |
7: 81,261,078 (GRCm39) |
C284* |
probably null |
Het |
| Hrg |
T |
A |
16: 22,780,061 (GRCm39) |
H446Q |
unknown |
Het |
| Jag1 |
C |
T |
2: 136,943,593 (GRCm39) |
R201H |
probably damaging |
Het |
| Kctd15 |
C |
T |
7: 34,341,483 (GRCm39) |
R148H |
possibly damaging |
Het |
| Klhdc7a |
G |
A |
4: 139,693,493 (GRCm39) |
R485C |
probably benign |
Het |
| Ldhd |
T |
A |
8: 112,353,980 (GRCm39) |
I407F |
probably benign |
Het |
| Lgals12 |
G |
A |
19: 7,578,086 (GRCm39) |
R192C |
probably benign |
Het |
| Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
| Lum |
A |
T |
10: 97,404,347 (GRCm39) |
I81F |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,568,148 (GRCm39) |
D1524E |
unknown |
Het |
| Marveld3 |
A |
G |
8: 110,675,036 (GRCm39) |
L260S |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,942,203 (GRCm39) |
R555H |
probably benign |
Het |
| Mrpl37 |
G |
A |
4: 106,921,605 (GRCm39) |
T208I |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,838,490 (GRCm39) |
T498S |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,047,360 (GRCm39) |
C289R |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,716,369 (GRCm39) |
F1459Y |
probably damaging |
Het |
| Neurl4 |
C |
A |
11: 69,796,792 (GRCm39) |
R518S |
probably damaging |
Het |
| Nmnat2 |
T |
G |
1: 152,949,585 (GRCm39) |
V43G |
probably damaging |
Het |
| Or2b11 |
T |
C |
11: 59,462,272 (GRCm39) |
Y98C |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,459,840 (GRCm39) |
F120L |
probably benign |
Het |
| Or6c6c |
A |
G |
10: 129,541,683 (GRCm39) |
N312S |
probably benign |
Het |
| Otog |
A |
G |
7: 45,909,353 (GRCm39) |
T608A |
possibly damaging |
Het |
| Pck2 |
G |
A |
14: 55,785,283 (GRCm39) |
R482Q |
probably damaging |
Het |
| Pcx |
G |
A |
19: 4,670,532 (GRCm39) |
M1013I |
probably benign |
Het |
| Pex13 |
A |
G |
11: 23,605,630 (GRCm39) |
M200T |
probably benign |
Het |
| Pigt |
CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC |
CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC |
2: 164,349,420 (GRCm39) |
|
probably null |
Het |
| Pramel32 |
A |
T |
4: 88,548,186 (GRCm39) |
I73K |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,730,114 (GRCm39) |
H26R |
probably benign |
Het |
| Ralgps2 |
T |
A |
1: 156,715,599 (GRCm39) |
E72V |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,654,179 (GRCm39) |
F873L |
possibly damaging |
Het |
| Scube1 |
A |
T |
15: 83,512,264 (GRCm39) |
C396S |
possibly damaging |
Het |
| Sec23b |
T |
A |
2: 144,410,550 (GRCm39) |
N283K |
possibly damaging |
Het |
| Setx |
T |
A |
2: 29,044,032 (GRCm39) |
Y1800* |
probably null |
Het |
| Sgce |
G |
T |
6: 4,707,205 (GRCm39) |
S213R |
probably damaging |
Het |
| Skic3 |
C |
A |
13: 76,281,076 (GRCm39) |
T704N |
possibly damaging |
Het |
| Slc36a2 |
T |
C |
11: 55,075,865 (GRCm39) |
|
probably benign |
Het |
| Sult5a1 |
A |
T |
8: 123,875,146 (GRCm39) |
D129E |
probably damaging |
Het |
| Tacr1 |
A |
T |
6: 82,380,913 (GRCm39) |
H108L |
probably damaging |
Het |
| Tnfsf10 |
T |
A |
3: 27,389,496 (GRCm39) |
Y186N |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,688,919 (GRCm39) |
S2428P |
possibly damaging |
Het |
| Vwf |
G |
A |
6: 125,654,909 (GRCm39) |
R2535H |
|
Het |
| Zfp532 |
A |
G |
18: 65,756,128 (GRCm39) |
I20M |
probably damaging |
Het |
|
| Other mutations in Filip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Filip1
|
APN |
9 |
79,725,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01101:Filip1
|
APN |
9 |
79,805,528 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01301:Filip1
|
APN |
9 |
79,726,462 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01887:Filip1
|
APN |
9 |
79,726,899 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02119:Filip1
|
APN |
9 |
79,725,548 (GRCm39) |
missense |
probably benign |
|
|
IGL02285:Filip1
|
APN |
9 |
79,727,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02395:Filip1
|
APN |
9 |
79,805,692 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03398:Filip1
|
APN |
9 |
79,726,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03400:Filip1
|
APN |
9 |
79,727,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03404:Filip1
|
APN |
9 |
79,725,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
ANU18:Filip1
|
UTSW |
9 |
79,726,462 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
BB010:Filip1
|
UTSW |
9 |
79,727,329 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
BB020:Filip1
|
UTSW |
9 |
79,727,329 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0101:Filip1
|
UTSW |
9 |
79,726,810 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0243:Filip1
|
UTSW |
9 |
79,726,285 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0244:Filip1
|
UTSW |
9 |
79,726,744 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0371:Filip1
|
UTSW |
9 |
79,767,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0399:Filip1
|
UTSW |
9 |
79,725,592 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0412:Filip1
|
UTSW |
9 |
79,727,571 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0671:Filip1
|
UTSW |
9 |
79,726,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1314:Filip1
|
UTSW |
9 |
79,727,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Filip1
|
UTSW |
9 |
79,805,589 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1465:Filip1
|
UTSW |
9 |
79,805,589 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1602:Filip1
|
UTSW |
9 |
79,727,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1801:Filip1
|
UTSW |
9 |
79,723,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1929:Filip1
|
UTSW |
9 |
79,727,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1983:Filip1
|
UTSW |
9 |
79,767,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Filip1
|
UTSW |
9 |
79,727,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2128:Filip1
|
UTSW |
9 |
79,726,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2271:Filip1
|
UTSW |
9 |
79,727,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2411:Filip1
|
UTSW |
9 |
79,805,715 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3429:Filip1
|
UTSW |
9 |
79,760,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Filip1
|
UTSW |
9 |
79,760,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Filip1
|
UTSW |
9 |
79,725,649 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4007:Filip1
|
UTSW |
9 |
79,726,009 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4583:Filip1
|
UTSW |
9 |
79,723,091 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4803:Filip1
|
UTSW |
9 |
79,727,396 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4837:Filip1
|
UTSW |
9 |
79,726,741 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4910:Filip1
|
UTSW |
9 |
79,725,214 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4929:Filip1
|
UTSW |
9 |
79,727,029 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5387:Filip1
|
UTSW |
9 |
79,725,556 (GRCm39) |
missense |
probably benign |
|
|
R5581:Filip1
|
UTSW |
9 |
79,727,042 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5808:Filip1
|
UTSW |
9 |
79,725,983 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5891:Filip1
|
UTSW |
9 |
79,727,142 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6166:Filip1
|
UTSW |
9 |
79,726,736 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6273:Filip1
|
UTSW |
9 |
79,723,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6380:Filip1
|
UTSW |
9 |
79,726,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6385:Filip1
|
UTSW |
9 |
79,727,813 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6614:Filip1
|
UTSW |
9 |
79,723,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6715:Filip1
|
UTSW |
9 |
79,726,040 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7047:Filip1
|
UTSW |
9 |
79,760,916 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7126:Filip1
|
UTSW |
9 |
79,805,577 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7144:Filip1
|
UTSW |
9 |
79,727,495 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7218:Filip1
|
UTSW |
9 |
79,725,356 (GRCm39) |
missense |
probably benign |
|
|
R7404:Filip1
|
UTSW |
9 |
79,727,380 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7702:Filip1
|
UTSW |
9 |
79,727,931 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7866:Filip1
|
UTSW |
9 |
79,726,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7933:Filip1
|
UTSW |
9 |
79,727,329 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8012:Filip1
|
UTSW |
9 |
79,725,241 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8097:Filip1
|
UTSW |
9 |
79,725,541 (GRCm39) |
missense |
probably benign |
|
|
R8213:Filip1
|
UTSW |
9 |
79,725,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8305:Filip1
|
UTSW |
9 |
79,727,757 (GRCm39) |
nonsense |
probably null |
|
|
R8798:Filip1
|
UTSW |
9 |
79,727,372 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9184:Filip1
|
UTSW |
9 |
79,805,542 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9322:Filip1
|
UTSW |
9 |
79,727,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9353:Filip1
|
UTSW |
9 |
79,725,623 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9541:Filip1
|
UTSW |
9 |
79,727,135 (GRCm39) |
nonsense |
probably null |
|
|
R9607:Filip1
|
UTSW |
9 |
79,726,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0054:Filip1
|
UTSW |
9 |
79,726,817 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGAGAGACAGCGATTTCAG -3'
(R):5'- AAACCCATGGAACGGTCCTC -3'
Sequencing Primer
(F):5'- ACAGCGATTTCAGGGGGC -3'
(R):5'- TCGGTCCTCGACAGGTATC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation