Incidental Mutation 'R7126:Filip1'
| ID |
552334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
045213-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R7126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79805577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 59
(L59P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093811]
[ENSMUST00000172973]
[ENSMUST00000217264]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093811
AA Change: L59P
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: L59P
| 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: L59P
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134427
Gene: ENSMUSG00000034898
AA Change: L59P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
65 |
225 |
5.2e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217264
|
| Meta Mutation Damage Score |
0.0932 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
97% (73/75) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
T |
C |
3: 36,535,988 (GRCm39) |
C85R |
unknown |
Het |
| 3110082I17Rik |
G |
T |
5: 139,347,005 (GRCm39) |
H153Q |
unknown |
Het |
| Acadsb |
T |
C |
7: 131,039,177 (GRCm39) |
I316T |
probably benign |
Het |
| Acsbg2 |
A |
T |
17: 57,153,633 (GRCm39) |
N523K |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,979,723 (GRCm39) |
P336S |
possibly damaging |
Het |
| Ankdd1b |
A |
G |
13: 96,566,370 (GRCm39) |
V277A |
possibly damaging |
Het |
| Aspm |
A |
G |
1: 139,408,541 (GRCm39) |
Y2476C |
probably benign |
Het |
| Atg13 |
G |
A |
2: 91,510,765 (GRCm39) |
R321W |
probably damaging |
Het |
| B4galt2 |
A |
G |
4: 117,734,735 (GRCm39) |
F211S |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,464,119 (GRCm39) |
T913S |
possibly damaging |
Het |
| Btbd18 |
A |
T |
2: 84,496,546 (GRCm39) |
E61D |
possibly damaging |
Het |
| Btnl9 |
G |
T |
11: 49,060,082 (GRCm39) |
S555R |
probably damaging |
Het |
| Cbs |
T |
A |
17: 31,838,113 (GRCm39) |
M379L |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,741,853 (GRCm39) |
G1614D |
unknown |
Het |
| Cmya5 |
G |
A |
13: 93,226,448 (GRCm39) |
P2880L |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,473,292 (GRCm39) |
S729P |
probably damaging |
Het |
| Cox16 |
T |
A |
12: 81,518,940 (GRCm39) |
E70D |
probably benign |
Het |
| Cp |
A |
G |
3: 20,034,788 (GRCm39) |
H699R |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,678,209 (GRCm39) |
N56D |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,725,667 (GRCm39) |
Y707C |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,349,983 (GRCm39) |
E2555D |
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,729,154 (GRCm39) |
T6A |
unknown |
Het |
| Fsip2 |
A |
G |
2: 82,813,485 (GRCm39) |
N3268S |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,014 (GRCm39) |
C457S |
probably benign |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
| Grep1 |
C |
T |
17: 23,939,538 (GRCm39) |
V8I |
probably benign |
Het |
| Grid2 |
T |
A |
6: 64,053,794 (GRCm39) |
V331E |
probably damaging |
Het |
| Inpp4a |
C |
A |
1: 37,413,353 (GRCm39) |
H123Q |
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,793,851 (GRCm39) |
Y260* |
probably null |
Het |
| Itpr2 |
G |
A |
6: 146,259,294 (GRCm39) |
Q628* |
probably null |
Het |
| Kbtbd11 |
G |
A |
8: 15,078,759 (GRCm39) |
A453T |
probably damaging |
Het |
| Kcnj2 |
A |
G |
11: 110,963,648 (GRCm39) |
T347A |
probably damaging |
Het |
| Kif19b |
A |
T |
5: 140,477,073 (GRCm39) |
D874V |
probably benign |
Het |
| Klhl12 |
A |
G |
1: 134,395,521 (GRCm39) |
H161R |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,856,871 (GRCm39) |
E412G |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,573,132 (GRCm39) |
I95V |
probably damaging |
Het |
| Mme |
C |
T |
3: 63,276,322 (GRCm39) |
P700S |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Mthfd2 |
A |
G |
6: 83,290,472 (GRCm39) |
V53A |
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,468,439 (GRCm39) |
L210P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,552,512 (GRCm39) |
T4594A |
probably benign |
Het |
| Niban1 |
T |
A |
1: 151,590,318 (GRCm39) |
C537* |
probably null |
Het |
| Olfm5 |
A |
T |
7: 103,809,187 (GRCm39) |
C208S |
probably damaging |
Het |
| Or10q1 |
T |
A |
19: 13,726,887 (GRCm39) |
I139N |
possibly damaging |
Het |
| Or2ad1 |
A |
T |
13: 21,326,888 (GRCm39) |
L113H |
probably damaging |
Het |
| Or7a39 |
T |
C |
10: 78,715,411 (GRCm39) |
V135A |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Plin1 |
T |
C |
7: 79,376,412 (GRCm39) |
|
probably null |
Het |
| Prl7a1 |
C |
T |
13: 27,826,402 (GRCm39) |
|
probably null |
Het |
| Ptpn23 |
T |
C |
9: 110,217,812 (GRCm39) |
D711G |
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,103,954 (GRCm39) |
I169N |
probably damaging |
Het |
| Scn7a |
G |
T |
2: 66,587,630 (GRCm39) |
H24Q |
possibly damaging |
Het |
| Scrt2 |
C |
T |
2: 151,935,006 (GRCm39) |
P53L |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,802,458 (GRCm39) |
I264L |
probably benign |
Het |
| Smarcd1 |
A |
T |
15: 99,607,206 (GRCm39) |
D393V |
probably damaging |
Het |
| Spag17 |
T |
G |
3: 100,008,751 (GRCm39) |
N1960K |
probably benign |
Het |
| Ssb |
A |
G |
2: 69,696,845 (GRCm39) |
T62A |
possibly damaging |
Het |
| Taar7b |
T |
A |
10: 23,875,960 (GRCm39) |
Y42N |
possibly damaging |
Het |
| Terf1 |
A |
T |
1: 15,883,363 (GRCm39) |
I159L |
probably benign |
Het |
| Tff3 |
T |
G |
17: 31,346,410 (GRCm39) |
N54T |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,905,818 (GRCm39) |
L285P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,896,392 (GRCm39) |
Y283C |
probably damaging |
Het |
| Trim58 |
T |
C |
11: 58,531,405 (GRCm39) |
C38R |
probably damaging |
Het |
| Trpa1 |
T |
A |
1: 14,960,648 (GRCm39) |
T647S |
probably benign |
Het |
| Trpm4 |
A |
T |
7: 44,960,133 (GRCm39) |
|
probably null |
Het |
| Trpm6 |
C |
T |
19: 18,831,397 (GRCm39) |
Q1421* |
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,284,982 (GRCm39) |
|
probably null |
Het |
| Vmn1r46 |
T |
G |
6: 89,953,976 (GRCm39) |
I275S |
possibly damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,366,088 (GRCm39) |
F282S |
possibly damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,218 (GRCm39) |
S844P |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,688,243 (GRCm39) |
C855G |
probably benign |
Het |
| Wdr31 |
T |
A |
4: 62,381,666 (GRCm39) |
Q55L |
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 |
|
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 |
|
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'- ACATAACTGAGGATGGTAAGCC -3'
(R):5'- GCAGGTGGGAATGAGATCTC -3'
Sequencing Primer
(F):5'- TGAGGATGGTAAGCCCCCTTC -3'
(R):5'- TCTCGAAATCAAGGTGGAGAAAGTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation