Incidental Mutation 'R1983:Filip1'
| ID |
220167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
039995-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R1983 (G1)
|
| Quality Score |
190 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79767374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 146
(K146N)
|
| 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: K146N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: K146N
| 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 |
possibly damaging
Transcript: ENSMUST00000172973
AA Change: K146N
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134427
Gene: ENSMUSG00000034898
AA Change: K146N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
65 |
225 |
5.2e-74 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012H06Rik |
T |
A |
17: 15,164,272 (GRCm39) |
V133E |
probably damaging |
Het |
| Aco1 |
G |
A |
4: 40,175,845 (GRCm39) |
G160S |
probably benign |
Het |
| Actn2 |
C |
T |
13: 12,293,696 (GRCm39) |
R608H |
probably benign |
Het |
| Adora2a |
A |
C |
10: 75,169,480 (GRCm39) |
S315R |
probably benign |
Het |
| Arhgap42 |
T |
C |
9: 9,017,018 (GRCm39) |
Y382C |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atg4c |
A |
G |
4: 99,116,812 (GRCm39) |
Y318C |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,959,828 (GRCm39) |
T1408I |
probably benign |
Het |
| Bbx |
T |
A |
16: 50,029,480 (GRCm39) |
Q663L |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 36,942,014 (GRCm39) |
D273G |
probably null |
Het |
| Btbd3 |
T |
G |
2: 138,125,608 (GRCm39) |
L264R |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,662,194 (GRCm39) |
I391T |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,578,097 (GRCm39) |
I45V |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,469,123 (GRCm39) |
A1853D |
possibly damaging |
Het |
| Cmas |
G |
T |
6: 142,716,312 (GRCm39) |
D251Y |
probably damaging |
Het |
| Cyp2d10 |
A |
G |
15: 82,290,200 (GRCm39) |
M90T |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,050,341 (GRCm39) |
F714L |
probably benign |
Het |
| Dguok |
A |
T |
6: 83,464,110 (GRCm39) |
Y126* |
probably null |
Het |
| Dnai1 |
A |
G |
4: 41,603,232 (GRCm39) |
K172E |
probably benign |
Het |
| Dnai2 |
T |
A |
11: 114,626,682 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
T |
15: 83,777,163 (GRCm39) |
|
probably benign |
Het |
| Eln |
A |
T |
5: 134,765,194 (GRCm39) |
|
probably null |
Het |
| Epor |
T |
C |
9: 21,870,696 (GRCm39) |
T395A |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,573,275 (GRCm39) |
E996* |
probably null |
Het |
| Fam124b |
T |
A |
1: 80,191,364 (GRCm39) |
E6D |
probably benign |
Het |
| Filip1l |
T |
C |
16: 57,391,637 (GRCm39) |
S742P |
probably damaging |
Het |
| Fsip2 |
G |
T |
2: 82,810,175 (GRCm39) |
V2165L |
probably benign |
Het |
| Gcdh |
A |
T |
8: 85,617,539 (GRCm39) |
V227E |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,183 (GRCm39) |
N336S |
probably benign |
Het |
| Gm12695 |
G |
T |
4: 96,627,214 (GRCm39) |
A399E |
possibly damaging |
Het |
| Gm16503 |
T |
A |
4: 147,625,749 (GRCm39) |
V81E |
unknown |
Het |
| Gpr137c |
T |
C |
14: 45,517,428 (GRCm39) |
V388A |
probably benign |
Het |
| Hgf |
A |
G |
5: 16,766,010 (GRCm39) |
T49A |
possibly damaging |
Het |
| Hspa1a |
G |
T |
17: 35,189,938 (GRCm39) |
R322S |
probably benign |
Het |
| Jak3 |
A |
T |
8: 72,131,019 (GRCm39) |
Q13L |
possibly damaging |
Het |
| Jak3 |
A |
G |
8: 72,140,780 (GRCm39) |
R1098G |
probably benign |
Het |
| Kif11 |
C |
T |
19: 37,379,224 (GRCm39) |
T305I |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,546,806 (GRCm39) |
V130E |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,401,416 (GRCm39) |
|
probably null |
Het |
| Mdga1 |
G |
A |
17: 30,069,579 (GRCm39) |
R430C |
probably damaging |
Het |
| Mfsd12 |
T |
A |
10: 81,198,090 (GRCm39) |
|
probably null |
Het |
| Mmp27 |
T |
A |
9: 7,578,898 (GRCm39) |
|
probably null |
Het |
| Mtnr1a |
A |
T |
8: 45,540,471 (GRCm39) |
N144I |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,383,407 (GRCm39) |
T3563A |
probably damaging |
Het |
| Myef2 |
T |
A |
2: 124,940,765 (GRCm39) |
M355L |
probably benign |
Het |
| Or4a39 |
A |
G |
2: 89,236,770 (GRCm39) |
F218L |
probably benign |
Het |
| Or5b104 |
A |
G |
19: 13,072,748 (GRCm39) |
I88T |
probably benign |
Het |
| Or5p51 |
C |
T |
7: 107,444,619 (GRCm39) |
G107D |
probably benign |
Het |
| Or8k27 |
T |
A |
2: 86,275,420 (GRCm39) |
H302L |
probably benign |
Het |
| Parg |
A |
G |
14: 31,939,653 (GRCm39) |
K560E |
probably damaging |
Het |
| Pck2 |
G |
A |
14: 55,781,525 (GRCm39) |
|
probably null |
Het |
| Pdcd6 |
T |
C |
13: 74,452,119 (GRCm39) |
I174V |
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,066 (GRCm39) |
L57S |
probably damaging |
Het |
| Pomgnt1 |
C |
A |
4: 116,009,117 (GRCm39) |
P74Q |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,743,817 (GRCm39) |
Y146C |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 16,998,006 (GRCm39) |
M248V |
probably damaging |
Het |
| Ric8b |
T |
A |
10: 84,837,702 (GRCm39) |
M503K |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,444 (GRCm39) |
V871M |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,758,897 (GRCm39) |
N3427S |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,600,288 (GRCm39) |
|
probably null |
Het |
| Scimp |
C |
T |
11: 70,691,540 (GRCm39) |
V30I |
probably damaging |
Het |
| Skint4 |
A |
G |
4: 112,003,689 (GRCm39) |
E374G |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,469,652 (GRCm39) |
Y482H |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,821 (GRCm39) |
S482G |
probably benign |
Het |
| Spopfm2 |
T |
G |
3: 94,083,601 (GRCm39) |
D70A |
possibly damaging |
Het |
| Strc |
T |
A |
2: 121,201,518 (GRCm39) |
M1229L |
possibly damaging |
Het |
| Tasor2 |
G |
T |
13: 3,624,853 (GRCm39) |
T1699K |
possibly damaging |
Het |
| Terf2 |
T |
C |
8: 107,809,640 (GRCm39) |
Y226C |
probably damaging |
Het |
| Tex10 |
A |
T |
4: 48,460,059 (GRCm39) |
L431I |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,902,867 (GRCm39) |
V1470A |
possibly damaging |
Het |
| Ttll13 |
T |
C |
7: 79,903,364 (GRCm39) |
I248T |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,619,369 (GRCm39) |
N16031S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,587,104 (GRCm39) |
K21631M |
probably damaging |
Het |
| Uroc1 |
A |
T |
6: 90,322,351 (GRCm39) |
S292C |
probably damaging |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,588 (GRCm39) |
M233L |
probably benign |
Het |
| Wdr31 |
A |
T |
4: 62,378,840 (GRCm39) |
M129K |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,914,539 (GRCm39) |
N1754K |
probably damaging |
Het |
| Xirp1 |
G |
A |
9: 119,845,695 (GRCm39) |
Q1063* |
probably null |
Het |
| Zfp799 |
C |
A |
17: 33,041,084 (GRCm39) |
V32L |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,546,386 (GRCm39) |
D874E |
possibly 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 |
|
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 |
|
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'- CCTATCAGAACATATCTAGTCCAGATC -3'
(R):5'- CCTGCTGACTTTGTGAATCTGG -3'
Sequencing Primer
(F):5'- ctttctctccctctatccct -3'
(R):5'- TGAATCTGGGAGCGTCGGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation