Incidental Mutation 'R0399:Filip1'
| ID |
38063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
038604-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R0399 (G1)
|
| Quality Score |
187 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79725592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1009
(I1009T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093811]
[ENSMUST00000172973]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093811
AA Change: I1009T
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: I1009T
| 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 |
0.0978 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
99% (71/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030452D12Rik |
T |
C |
8: 107,231,174 (GRCm39) |
M120T |
unknown |
Het |
| Actr1a |
A |
T |
19: 46,373,450 (GRCm39) |
|
probably null |
Het |
| Anapc5 |
A |
T |
5: 122,929,816 (GRCm39) |
V555D |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,108,008 (GRCm39) |
|
probably null |
Het |
| Arhgap30 |
A |
G |
1: 171,232,384 (GRCm39) |
E343G |
probably damaging |
Het |
| Asap2 |
C |
T |
12: 21,267,998 (GRCm39) |
T291I |
possibly damaging |
Het |
| Atp5f1a |
T |
A |
18: 77,869,536 (GRCm39) |
Y439* |
probably null |
Het |
| Auts2 |
A |
T |
5: 131,469,362 (GRCm39) |
S428T |
probably benign |
Het |
| B3gnt7 |
T |
A |
1: 86,233,433 (GRCm39) |
C109* |
probably null |
Het |
| C4b |
C |
A |
17: 34,947,843 (GRCm39) |
Q1657H |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,544,225 (GRCm39) |
L268* |
probably null |
Het |
| Cep290 |
G |
A |
10: 100,390,262 (GRCm39) |
|
probably benign |
Het |
| Cep68 |
T |
G |
11: 20,180,571 (GRCm39) |
I687L |
probably benign |
Het |
| Chd6 |
T |
A |
2: 160,894,608 (GRCm39) |
D84V |
probably damaging |
Het |
| Clpx |
A |
G |
9: 65,230,051 (GRCm39) |
T514A |
probably benign |
Het |
| Cox18 |
A |
T |
5: 90,362,887 (GRCm39) |
C324S |
probably benign |
Het |
| Cryzl2 |
T |
C |
1: 157,289,586 (GRCm39) |
Y75H |
probably damaging |
Het |
| Cxcr6 |
C |
T |
9: 123,640,016 (GRCm39) |
A339V |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 134,765,171 (GRCm39) |
L1721P |
probably benign |
Het |
| Dstyk |
T |
C |
1: 132,380,818 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,827,047 (GRCm39) |
T1029A |
possibly damaging |
Het |
| Ehf |
A |
G |
2: 103,097,215 (GRCm39) |
Y246H |
probably damaging |
Het |
| Epas1 |
T |
C |
17: 87,112,621 (GRCm39) |
V73A |
probably benign |
Het |
| Glis3 |
A |
T |
19: 28,276,168 (GRCm39) |
|
probably benign |
Het |
| Gm17333 |
A |
T |
16: 77,649,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,200,346 (GRCm39) |
I387N |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,076,853 (GRCm39) |
D83G |
probably damaging |
Het |
| Grid2 |
A |
G |
6: 64,643,036 (GRCm39) |
I933V |
probably benign |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,720,196 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,269,314 (GRCm39) |
S656R |
possibly damaging |
Het |
| Il11ra1 |
A |
T |
4: 41,766,185 (GRCm39) |
T241S |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,606 (GRCm39) |
I760V |
probably benign |
Het |
| Kansl1 |
T |
C |
11: 104,314,958 (GRCm39) |
E360G |
possibly damaging |
Het |
| Klf9 |
A |
T |
19: 23,119,446 (GRCm39) |
S110C |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,935 (GRCm39) |
N217S |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,262 (GRCm39) |
Y1077C |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,517,529 (GRCm39) |
|
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,546,081 (GRCm39) |
H626Q |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,342,558 (GRCm39) |
L40Q |
probably damaging |
Het |
| Mroh1 |
C |
T |
15: 76,336,299 (GRCm39) |
A1530V |
probably benign |
Het |
| Myo1e |
A |
G |
9: 70,209,075 (GRCm39) |
|
probably benign |
Het |
| Naa25 |
A |
T |
5: 121,573,553 (GRCm39) |
M761L |
probably benign |
Het |
| Ncln |
G |
A |
10: 81,324,131 (GRCm39) |
A465V |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,560,550 (GRCm39) |
N98S |
probably damaging |
Het |
| Or52h9 |
T |
A |
7: 104,202,576 (GRCm39) |
V150E |
probably benign |
Het |
| Or5a1 |
G |
C |
19: 12,097,734 (GRCm39) |
A114G |
possibly damaging |
Het |
| Or6d15 |
C |
A |
6: 116,559,742 (GRCm39) |
S55I |
probably benign |
Het |
| Or8b4 |
G |
T |
9: 37,830,849 (GRCm39) |
A304S |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,248 (GRCm39) |
I157M |
possibly damaging |
Het |
| Pacsin2 |
T |
C |
15: 83,270,983 (GRCm39) |
Y222C |
probably damaging |
Het |
| Pcdhb15 |
C |
T |
18: 37,607,221 (GRCm39) |
T151M |
possibly damaging |
Het |
| Plcz1 |
C |
A |
6: 139,968,956 (GRCm39) |
V161L |
possibly damaging |
Het |
| Ppp6c |
G |
A |
2: 39,090,136 (GRCm39) |
|
probably benign |
Het |
| Relch |
A |
G |
1: 105,678,684 (GRCm39) |
|
probably benign |
Het |
| Rhbdf2 |
T |
A |
11: 116,494,818 (GRCm39) |
Y286F |
probably benign |
Het |
| Rtn3 |
A |
T |
19: 7,435,241 (GRCm39) |
D231E |
probably damaging |
Het |
| Slc35c2 |
A |
C |
2: 165,122,815 (GRCm39) |
Y156* |
probably null |
Het |
| Spata46 |
A |
G |
1: 170,139,106 (GRCm39) |
D35G |
probably damaging |
Het |
| Tmed3 |
A |
G |
9: 89,584,926 (GRCm39) |
F110L |
possibly damaging |
Het |
| Tmem104 |
T |
G |
11: 115,092,134 (GRCm39) |
|
probably benign |
Het |
| Tpbg |
T |
A |
9: 85,726,991 (GRCm39) |
V320E |
possibly damaging |
Het |
| Trib2 |
T |
C |
12: 15,843,664 (GRCm39) |
D190G |
probably damaging |
Het |
| Tspan2 |
A |
G |
3: 102,666,701 (GRCm39) |
T26A |
probably damaging |
Het |
| Usp17lb |
A |
C |
7: 104,490,358 (GRCm39) |
Y190D |
possibly damaging |
Het |
| Utp18 |
C |
T |
11: 93,770,973 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,656,841 (GRCm39) |
D121E |
probably damaging |
Het |
| Vmn1r80 |
T |
A |
7: 11,927,244 (GRCm39) |
M118K |
possibly damaging |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,794 (GRCm39) |
S300G |
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 |
|
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 |
|
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'- CCGGGAGATCGCTTAAACTGAGAAC -3'
(R):5'- CACCGTCATTCCTACCTTAGGCAAC -3'
Sequencing Primer
(F):5'- GCTTAAACTGAGAACCCAGGTG -3'
(R):5'- TTCCTACCTTAGGCAACCAGAAAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation