Incidental Mutation 'R6166:Filip1'
ID |
490147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1
|
Ensembl Gene |
ENSMUSG00000034898 |
Gene Name |
filamin A interacting protein 1 |
Synonyms |
FILIP, 5730485H21Rik |
MMRRC Submission |
044312-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.499)
|
Stock # |
R6166 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79726736 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 628
(K628E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091329
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093811]
[ENSMUST00000172973]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000093811
AA Change: K628E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091329 Gene: ENSMUSG00000034898 AA Change: K628E
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 |
0.1903 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
Validation Efficiency |
97% (57/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot2 |
A |
T |
12: 84,039,378 (GRCm39) |
N296Y |
probably damaging |
Het |
Ago2 |
T |
A |
15: 72,996,089 (GRCm39) |
I347L |
probably benign |
Het |
Aldh1l2 |
C |
T |
10: 83,329,288 (GRCm39) |
|
probably null |
Het |
Ap1ar |
A |
G |
3: 127,606,177 (GRCm39) |
|
probably null |
Het |
Arap3 |
T |
C |
18: 38,107,423 (GRCm39) |
T1365A |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,525,699 (GRCm39) |
H1966Q |
probably damaging |
Het |
Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
Atg13 |
G |
T |
2: 91,506,736 (GRCm39) |
Q479K |
probably damaging |
Het |
Bmp8a |
T |
C |
4: 123,218,471 (GRCm39) |
T183A |
probably benign |
Het |
Camta2 |
G |
C |
11: 70,565,087 (GRCm39) |
|
probably null |
Het |
Catspere2 |
A |
G |
1: 177,931,403 (GRCm39) |
T441A |
unknown |
Het |
Ccdc40 |
T |
C |
11: 119,122,827 (GRCm39) |
S210P |
probably benign |
Het |
Cnn2 |
A |
G |
10: 79,824,561 (GRCm39) |
E17G |
possibly damaging |
Het |
Cnot6l |
T |
C |
5: 96,227,799 (GRCm39) |
D478G |
possibly damaging |
Het |
Cplane1 |
A |
G |
15: 8,216,044 (GRCm39) |
H478R |
probably benign |
Het |
Csf2rb |
A |
G |
15: 78,228,766 (GRCm39) |
Y369C |
probably damaging |
Het |
Dll4 |
A |
G |
2: 119,165,107 (GRCm39) |
|
probably null |
Het |
Efcab6 |
A |
G |
15: 83,780,316 (GRCm39) |
V1039A |
probably benign |
Het |
Fam117a |
T |
C |
11: 95,271,607 (GRCm39) |
M393T |
possibly damaging |
Het |
Fancd2 |
T |
A |
6: 113,532,212 (GRCm39) |
N508K |
possibly damaging |
Het |
Fat1 |
T |
C |
8: 45,405,522 (GRCm39) |
S758P |
probably damaging |
Het |
Fgf20 |
T |
C |
8: 40,732,881 (GRCm39) |
K186E |
probably damaging |
Het |
Fsip2 |
G |
T |
2: 82,811,071 (GRCm39) |
K2463N |
probably benign |
Het |
Gm15446 |
T |
A |
5: 110,090,646 (GRCm39) |
Y299* |
probably null |
Het |
Gm7363 |
A |
T |
7: 3,986,784 (GRCm39) |
|
noncoding transcript |
Het |
Gpx5 |
A |
T |
13: 21,473,435 (GRCm39) |
F104I |
probably damaging |
Het |
Grip1 |
A |
T |
10: 119,908,623 (GRCm39) |
I618F |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,259,274 (GRCm39) |
G1038D |
probably damaging |
Het |
Lgals9 |
C |
T |
11: 78,862,184 (GRCm39) |
A134T |
probably benign |
Het |
Lrba |
G |
A |
3: 86,261,614 (GRCm39) |
|
probably null |
Het |
Lypd10 |
A |
T |
7: 24,413,644 (GRCm39) |
Q220L |
probably benign |
Het |
Naprt |
T |
C |
15: 75,763,326 (GRCm39) |
Q439R |
possibly damaging |
Het |
Ndufs6 |
G |
A |
13: 73,466,060 (GRCm39) |
|
probably benign |
Het |
Nodal |
C |
A |
10: 61,260,337 (GRCm39) |
S329R |
probably damaging |
Het |
Olfm3 |
T |
A |
3: 114,916,074 (GRCm39) |
N315K |
probably damaging |
Het |
Or4k2 |
C |
T |
14: 50,424,225 (GRCm39) |
V150I |
probably benign |
Het |
Or6c3b |
A |
T |
10: 129,527,148 (GRCm39) |
I254K |
probably damaging |
Het |
Or6k2 |
A |
G |
1: 173,986,659 (GRCm39) |
T107A |
probably benign |
Het |
Plg |
T |
A |
17: 12,617,001 (GRCm39) |
V373E |
probably damaging |
Het |
Prdm2 |
A |
C |
4: 142,861,306 (GRCm39) |
S661R |
probably damaging |
Het |
Psg21 |
A |
T |
7: 18,390,664 (GRCm39) |
|
probably benign |
Het |
Rhobtb2 |
T |
C |
14: 70,035,627 (GRCm39) |
D148G |
probably damaging |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,322,543 (GRCm39) |
N116K |
probably damaging |
Het |
Sf3a3 |
T |
C |
4: 124,617,177 (GRCm39) |
|
probably benign |
Homo |
Slc38a9 |
T |
G |
13: 112,831,801 (GRCm39) |
Y184D |
possibly damaging |
Het |
Sowahc |
A |
G |
10: 59,058,182 (GRCm39) |
D106G |
probably benign |
Het |
Srbd1 |
T |
C |
17: 86,406,696 (GRCm39) |
Y563C |
probably damaging |
Het |
Src |
A |
G |
2: 157,310,442 (GRCm39) |
Y359C |
probably damaging |
Het |
Tbc1d9b |
A |
G |
11: 50,026,673 (GRCm39) |
D47G |
probably damaging |
Het |
Tctn3 |
T |
C |
19: 40,585,923 (GRCm39) |
K541E |
possibly damaging |
Het |
Tgm7 |
A |
G |
2: 120,929,539 (GRCm39) |
V245A |
probably damaging |
Het |
Thbs2 |
C |
T |
17: 14,900,650 (GRCm39) |
R519H |
probably damaging |
Het |
Tm4sf19 |
T |
C |
16: 32,226,681 (GRCm39) |
S157P |
probably damaging |
Het |
Trio |
C |
T |
15: 27,818,157 (GRCm39) |
S507N |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,718,791 (GRCm39) |
H152Q |
possibly damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,427,947 (GRCm39) |
L773P |
probably damaging |
Het |
Vmn2r70 |
A |
G |
7: 85,215,189 (GRCm39) |
L115P |
probably benign |
Het |
Wdr59 |
C |
T |
8: 112,199,293 (GRCm39) |
R631H |
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 |
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'- TAATTTCCTCGAGCTGCTGG -3'
(R):5'- TGTGACGGAGAAGCTAATCG -3'
Sequencing Primer
(F):5'- CTGGGAGAGGAAATTTGCCTTATCC -3'
(R):5'- GGTGTATAGTCTGACCAAGGAG -3'
|
Posted On |
2017-10-10 |