Incidental Mutation 'R7702:Filip1'
| ID |
594067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
045763-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R7702 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 79727931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 229
(N229K)
|
| 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: N229K
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: N229K
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,167,278 (GRCm39) |
|
probably null |
Het |
| AU040320 |
T |
A |
4: 126,708,166 (GRCm39) |
S261T |
probably benign |
Het |
| Banp |
T |
A |
8: 122,705,326 (GRCm39) |
C65* |
probably null |
Het |
| Bloc1s5 |
T |
C |
13: 38,787,850 (GRCm39) |
D178G |
probably benign |
Het |
| Cacna1c |
A |
G |
6: 118,575,727 (GRCm39) |
F1941L |
|
Het |
| Ccdc121rt3 |
T |
C |
5: 112,503,063 (GRCm39) |
K214E |
probably benign |
Het |
| Cd48 |
A |
G |
1: 171,523,348 (GRCm39) |
I64V |
probably damaging |
Het |
| Cela3a |
A |
G |
4: 137,135,501 (GRCm39) |
S21P |
probably benign |
Het |
| Cidec |
A |
G |
6: 113,411,415 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Col12a1 |
C |
G |
9: 79,588,803 (GRCm39) |
R1104T |
probably damaging |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cux2 |
T |
C |
5: 122,006,648 (GRCm39) |
D874G |
possibly damaging |
Het |
| Dbnl |
C |
T |
11: 5,748,048 (GRCm39) |
L298F |
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,032,866 (GRCm39) |
V390F |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,012,304 (GRCm39) |
D486G |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,916,466 (GRCm39) |
I4236V |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,857,274 (GRCm39) |
D406E |
probably benign |
Het |
| Dsp |
C |
T |
13: 38,359,183 (GRCm39) |
A318V |
possibly damaging |
Het |
| Duox1 |
T |
C |
2: 122,160,120 (GRCm39) |
L745P |
possibly damaging |
Het |
| Ell |
C |
A |
8: 70,992,364 (GRCm39) |
A3E |
possibly damaging |
Het |
| Fer1l5 |
T |
A |
1: 36,459,775 (GRCm39) |
L1832* |
probably null |
Het |
| Flg |
A |
T |
3: 93,200,089 (GRCm39) |
H195L |
unknown |
Het |
| Fndc7 |
G |
T |
3: 108,770,129 (GRCm39) |
P685H |
probably damaging |
Het |
| Ggt1 |
A |
G |
10: 75,412,116 (GRCm39) |
N120S |
probably benign |
Het |
| Gm4952 |
A |
T |
19: 12,604,428 (GRCm39) |
H280L |
probably benign |
Het |
| Golim4 |
A |
T |
3: 75,794,091 (GRCm39) |
D551E |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Hmbs |
A |
C |
9: 44,248,147 (GRCm39) |
|
probably null |
Het |
| Ino80 |
T |
C |
2: 119,273,054 (GRCm39) |
D474G |
probably benign |
Het |
| Ipo4 |
A |
C |
14: 55,869,787 (GRCm39) |
H343Q |
probably damaging |
Het |
| Jade2 |
C |
T |
11: 51,707,744 (GRCm39) |
R823H |
probably damaging |
Het |
| Jakmip1 |
C |
T |
5: 37,274,841 (GRCm39) |
T453I |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,478,689 (GRCm39) |
S199P |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,223,166 (GRCm39) |
Y105N |
probably damaging |
Het |
| Map3k19 |
G |
T |
1: 127,756,827 (GRCm39) |
T394N |
probably damaging |
Het |
| Megf6 |
G |
A |
4: 154,354,927 (GRCm39) |
D1445N |
probably benign |
Het |
| Mmp21 |
A |
G |
7: 133,280,791 (GRCm39) |
Y60H |
probably damaging |
Het |
| Mylk4 |
C |
T |
13: 32,904,585 (GRCm39) |
|
probably null |
Het |
| Nckipsd |
A |
T |
9: 108,691,216 (GRCm39) |
R38* |
probably null |
Het |
| Nob1 |
G |
A |
8: 108,139,737 (GRCm39) |
R341* |
probably null |
Het |
| Or11g25 |
A |
G |
14: 50,723,751 (GRCm39) |
T279A |
possibly damaging |
Het |
| Or1e19 |
T |
A |
11: 73,324,175 (GRCm39) |
|
probably benign |
Het |
| Or5ac22 |
A |
G |
16: 59,134,997 (GRCm39) |
Y258H |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,336,569 (GRCm39) |
L22P |
unknown |
Het |
| Pebp4 |
T |
A |
14: 70,297,056 (GRCm39) |
N198K |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,138,757 (GRCm39) |
S336P |
probably damaging |
Het |
| Prr5l |
T |
A |
2: 101,547,442 (GRCm39) |
D361V |
probably benign |
Het |
| Ralgapa1 |
C |
G |
12: 55,756,340 (GRCm39) |
V1086L |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,756,341 (GRCm39) |
Q1085H |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,705,219 (GRCm39) |
N2849S |
probably damaging |
Het |
| Slc6a18 |
A |
T |
13: 73,820,915 (GRCm39) |
L223H |
probably damaging |
Het |
| Sqstm1 |
T |
G |
11: 50,096,932 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,195,835 (GRCm39) |
E3945G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,037,161 (GRCm39) |
Y3780C |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,140,236 (GRCm39) |
Y840H |
probably damaging |
Het |
| Tmem183a |
T |
C |
1: 134,288,539 (GRCm39) |
Q108R |
probably benign |
Het |
| Tmtc1 |
A |
T |
6: 148,345,415 (GRCm39) |
C95S |
probably benign |
Het |
| Trappc8 |
C |
T |
18: 20,958,119 (GRCm39) |
V1250I |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,032,461 (GRCm39) |
V649A |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vmn1r123 |
A |
C |
7: 20,896,302 (GRCm39) |
T65P |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,553 (GRCm39) |
H328Q |
possibly damaging |
Het |
| Zeb1 |
T |
C |
18: 5,766,802 (GRCm39) |
S438P |
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 |
|
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'- CCTTGGACTTGTAAGTGATGGC -3'
(R):5'- TTGGCAAACCGTACTATTCTGAAG -3'
Sequencing Primer
(F):5'- AAGTGATGGCTTTGAGTTTTTCTTCC -3'
(R):5'- TTCTGAAGTTAAAAAGGGACCTTGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation