Incidental Mutation 'R3945:Filip1'
ID |
307657 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1
|
Ensembl Gene |
ENSMUSG00000034898 |
Gene Name |
filamin A interacting protein 1 |
Synonyms |
FILIP, 5730485H21Rik |
MMRRC Submission |
040926-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.499)
|
Stock # |
R3945 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79725649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 990
(K990R)
|
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: K990R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000091329 Gene: ENSMUSG00000034898 AA Change: K990R
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 |
noncoding transcript
Transcript: ENSMUST00000172740
|
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 |
|
Meta Mutation Damage Score |
0.0689 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (54/54) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
C |
15: 81,949,601 (GRCm39) |
L1166P |
probably damaging |
Het |
Actn4 |
T |
C |
7: 28,611,661 (GRCm39) |
|
probably null |
Het |
Adamts17 |
A |
T |
7: 66,770,687 (GRCm39) |
E905V |
probably benign |
Het |
Adck5 |
A |
G |
15: 76,479,400 (GRCm39) |
N485S |
probably damaging |
Het |
Agr3 |
C |
A |
12: 35,997,512 (GRCm39) |
|
probably benign |
Het |
Ankrd12 |
G |
A |
17: 66,283,098 (GRCm39) |
T1921I |
probably damaging |
Het |
Ascl2 |
T |
C |
7: 142,521,708 (GRCm39) |
S247G |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,510,880 (GRCm39) |
E422G |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,180,790 (GRCm39) |
I2229T |
probably damaging |
Het |
C630050I24Rik |
C |
T |
8: 107,845,894 (GRCm39) |
R15* |
probably null |
Het |
Cabin1 |
T |
G |
10: 75,581,093 (GRCm39) |
Q411P |
probably damaging |
Het |
Chrne |
T |
C |
11: 70,507,869 (GRCm39) |
I277V |
possibly damaging |
Het |
Coch |
A |
G |
12: 51,648,595 (GRCm39) |
|
probably null |
Het |
Corin |
A |
G |
5: 72,515,767 (GRCm39) |
V429A |
probably damaging |
Het |
Cpa3 |
A |
T |
3: 20,279,281 (GRCm39) |
N219K |
probably damaging |
Het |
Creb3l1 |
T |
C |
2: 91,821,556 (GRCm39) |
E273G |
probably damaging |
Het |
Csmd1 |
A |
C |
8: 15,960,619 (GRCm39) |
|
probably null |
Het |
Ddx59 |
A |
G |
1: 136,362,356 (GRCm39) |
D527G |
probably damaging |
Het |
Defa25 |
G |
A |
8: 21,574,506 (GRCm39) |
V17I |
probably null |
Het |
Efs |
A |
G |
14: 55,158,108 (GRCm39) |
|
probably benign |
Het |
Ern2 |
A |
G |
7: 121,775,753 (GRCm39) |
M447T |
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,779,485 (GRCm39) |
E596K |
possibly damaging |
Het |
Ipo8 |
T |
A |
6: 148,719,615 (GRCm39) |
Q110L |
probably damaging |
Het |
Kank4 |
T |
A |
4: 98,659,517 (GRCm39) |
I854F |
probably damaging |
Het |
Mst1 |
G |
A |
9: 107,962,052 (GRCm39) |
C681Y |
probably damaging |
Het |
Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
Or1s2 |
A |
G |
19: 13,758,786 (GRCm39) |
E270G |
probably benign |
Het |
Or4f4b |
C |
T |
2: 111,314,032 (GRCm39) |
Q86* |
probably null |
Het |
Pde11a |
T |
C |
2: 75,906,275 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,253 (GRCm39) |
|
probably benign |
Het |
Rcbtb1 |
G |
A |
14: 59,462,225 (GRCm39) |
|
probably null |
Het |
Rpl37 |
G |
A |
15: 5,147,176 (GRCm39) |
R72H |
probably benign |
Het |
Samd9l |
A |
T |
6: 3,377,029 (GRCm39) |
S77R |
possibly damaging |
Het |
Sin3b |
A |
G |
8: 73,460,067 (GRCm39) |
D218G |
possibly damaging |
Het |
Slc22a23 |
A |
G |
13: 34,367,109 (GRCm39) |
I633T |
probably damaging |
Het |
Spen |
T |
C |
4: 141,204,664 (GRCm39) |
D1321G |
unknown |
Het |
Ssh2 |
T |
C |
11: 77,345,494 (GRCm39) |
S1160P |
possibly damaging |
Het |
Synrg |
T |
A |
11: 83,914,232 (GRCm39) |
D952E |
probably damaging |
Het |
Tigd3 |
A |
G |
19: 5,942,461 (GRCm39) |
F223S |
probably damaging |
Het |
Trim66 |
G |
A |
7: 109,071,475 (GRCm39) |
T608I |
possibly damaging |
Het |
Trmt13 |
A |
G |
3: 116,375,167 (GRCm39) |
F447S |
probably damaging |
Het |
Trpc2 |
T |
C |
7: 101,737,486 (GRCm39) |
I800T |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,370,184 (GRCm39) |
I443F |
possibly damaging |
Het |
Vamp2 |
C |
A |
11: 68,980,000 (GRCm39) |
P24Q |
unknown |
Het |
Vmn1r113 |
A |
G |
7: 20,521,637 (GRCm39) |
Y143C |
probably benign |
Het |
Vmn1r14 |
T |
A |
6: 57,211,254 (GRCm39) |
N277K |
probably benign |
Het |
Vmn1r181 |
T |
A |
7: 23,683,577 (GRCm39) |
V14E |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,688,352 (GRCm39) |
I3086N |
probably damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
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 |
R9334:Filip1
|
UTSW |
9 |
79,725,739 (GRCm39) |
missense |
probably benign |
0.32 |
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'- GCATTGTACTTCCGCATGG -3'
(R):5'- GATCACGAGAACAGCACTGC -3'
Sequencing Primer
(F):5'- TCCGCATGGGGGTTGGAAC -3'
(R):5'- AAGCCCCACATCTGAAGAGTTTTTC -3'
|
Posted On |
2015-04-17 |