Incidental Mutation 'R6273:Filip1'
ID |
507475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1
|
Ensembl Gene |
ENSMUSG00000034898 |
Gene Name |
filamin A interacting protein 1 |
Synonyms |
FILIP, 5730485H21Rik |
MMRRC Submission |
044443-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.499)
|
Stock # |
R6273 (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 T
at 79723168 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1150
(D1150E)
|
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: D1150E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000091329 Gene: ENSMUSG00000034898 AA Change: D1150E
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
98% (78/80) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
A |
5: 64,055,561 (GRCm39) |
I99N |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Ankrd31 |
A |
G |
13: 96,988,181 (GRCm39) |
I1065V |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,378,831 (GRCm39) |
T1027A |
probably benign |
Het |
Atm |
G |
A |
9: 53,399,222 (GRCm39) |
P1593L |
probably benign |
Het |
Atp13a5 |
T |
G |
16: 29,167,555 (GRCm39) |
I132L |
probably benign |
Het |
BC035044 |
A |
G |
6: 128,867,852 (GRCm39) |
|
probably benign |
Het |
Cadm3 |
CT |
C |
1: 173,176,691 (GRCm39) |
|
probably benign |
Homo |
Car3 |
C |
T |
3: 14,936,677 (GRCm39) |
P247S |
probably benign |
Het |
Ccdc7a |
T |
C |
8: 129,513,819 (GRCm39) |
Y160C |
probably damaging |
Het |
Cd1d1 |
A |
G |
3: 86,905,564 (GRCm39) |
V143A |
probably benign |
Het |
Cemip2 |
T |
A |
19: 21,779,369 (GRCm39) |
V393E |
probably damaging |
Het |
Cog6 |
A |
T |
3: 52,903,473 (GRCm39) |
F142I |
probably damaging |
Het |
Cracd |
A |
T |
5: 77,005,568 (GRCm39) |
D643V |
unknown |
Het |
Crhr1 |
T |
G |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
Csf1 |
A |
G |
3: 107,656,479 (GRCm39) |
V72A |
probably damaging |
Het |
Cwc15 |
T |
A |
9: 14,421,537 (GRCm39) |
I201K |
probably benign |
Het |
Dgka |
T |
C |
10: 128,559,515 (GRCm39) |
K482R |
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,281,476 (GRCm39) |
S2846P |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,314,347 (GRCm39) |
I4199N |
probably damaging |
Het |
Dusp7 |
A |
G |
9: 106,251,095 (GRCm39) |
T407A |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fem1a |
T |
C |
17: 56,564,083 (GRCm39) |
Y59H |
possibly damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Gabra1 |
A |
G |
11: 42,031,138 (GRCm39) |
V264A |
probably damaging |
Het |
Gm4131 |
T |
C |
14: 62,702,299 (GRCm39) |
E223G |
probably damaging |
Het |
Gon4l |
T |
C |
3: 88,763,156 (GRCm39) |
V333A |
probably damaging |
Het |
Gsk3b |
A |
G |
16: 38,028,408 (GRCm39) |
T289A |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,301,846 (GRCm39) |
S2912P |
probably damaging |
Het |
Htr7 |
A |
T |
19: 36,018,969 (GRCm39) |
|
probably benign |
Het |
Ibsp |
A |
G |
5: 104,458,167 (GRCm39) |
T235A |
probably benign |
Het |
Ints13 |
A |
T |
6: 146,467,179 (GRCm39) |
D116E |
probably damaging |
Het |
Irag1 |
G |
T |
7: 110,470,790 (GRCm39) |
H848N |
probably benign |
Het |
Kctd19 |
T |
C |
8: 106,112,117 (GRCm39) |
N753S |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,715,979 (GRCm39) |
N2054D |
probably benign |
Het |
Mink1 |
A |
T |
11: 70,502,261 (GRCm39) |
K880* |
probably null |
Het |
Myo15b |
T |
A |
11: 115,753,625 (GRCm39) |
L824Q |
possibly damaging |
Het |
Napepld |
T |
C |
5: 21,870,320 (GRCm39) |
E366G |
probably benign |
Het |
Obscn |
T |
A |
11: 58,967,819 (GRCm39) |
T2662S |
possibly damaging |
Het |
Or2g7 |
T |
G |
17: 38,378,686 (GRCm39) |
L208R |
probably damaging |
Het |
Or2n1b |
T |
A |
17: 38,459,833 (GRCm39) |
M118K |
possibly damaging |
Het |
Or4k52 |
T |
C |
2: 111,611,567 (GRCm39) |
F301L |
probably benign |
Het |
Or52p1 |
A |
G |
7: 104,267,102 (GRCm39) |
D72G |
probably damaging |
Het |
Or5b12 |
A |
G |
19: 12,896,764 (GRCm39) |
V303A |
probably benign |
Het |
Or6d13 |
A |
G |
6: 116,518,277 (GRCm39) |
T288A |
possibly damaging |
Het |
Pah |
T |
C |
10: 87,412,077 (GRCm39) |
|
probably null |
Het |
Panx3 |
T |
G |
9: 37,578,725 (GRCm39) |
I85L |
probably benign |
Het |
Pate4 |
T |
C |
9: 35,519,086 (GRCm39) |
N94D |
probably benign |
Het |
Pde4d |
A |
G |
13: 110,086,755 (GRCm39) |
M610V |
possibly damaging |
Het |
Pik3c2b |
T |
C |
1: 132,994,449 (GRCm39) |
S138P |
probably benign |
Het |
Pkn1 |
T |
C |
8: 84,398,899 (GRCm39) |
N696S |
probably damaging |
Het |
Plppr2 |
A |
G |
9: 21,855,801 (GRCm39) |
E258G |
probably damaging |
Het |
Plxnd1 |
A |
T |
6: 115,955,453 (GRCm39) |
M538K |
probably damaging |
Het |
Prepl |
G |
T |
17: 85,390,696 (GRCm39) |
N87K |
probably benign |
Het |
Prkag2 |
C |
A |
5: 25,152,534 (GRCm39) |
R190L |
probably damaging |
Het |
Rara |
A |
G |
11: 98,861,048 (GRCm39) |
T179A |
probably benign |
Het |
Rfx7 |
A |
G |
9: 72,524,279 (GRCm39) |
K490E |
possibly damaging |
Het |
Rgsl1 |
C |
T |
1: 153,703,211 (GRCm39) |
V147M |
possibly damaging |
Het |
Rph3a |
A |
G |
5: 121,083,485 (GRCm39) |
I595T |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc8a2 |
T |
C |
7: 15,879,259 (GRCm39) |
F582L |
possibly damaging |
Het |
Sprr2e |
A |
G |
3: 92,260,171 (GRCm39) |
M1V |
probably null |
Het |
Steap1 |
T |
A |
5: 5,790,827 (GRCm39) |
R40S |
possibly damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,408,835 (GRCm39) |
V729E |
probably damaging |
Het |
Tmprss13 |
A |
G |
9: 45,256,630 (GRCm39) |
Y525C |
probably damaging |
Het |
Tnik |
A |
T |
3: 28,631,649 (GRCm39) |
H383L |
possibly damaging |
Het |
Vars1 |
T |
C |
17: 35,232,719 (GRCm39) |
L881S |
probably damaging |
Het |
Vmn1r201 |
A |
C |
13: 22,659,385 (GRCm39) |
S200R |
probably damaging |
Het |
Vmn2r130 |
A |
T |
17: 23,295,759 (GRCm39) |
H643L |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,369,133 (GRCm39) |
W147R |
probably benign |
Het |
Vps53 |
T |
C |
11: 75,992,844 (GRCm39) |
E367G |
probably benign |
Het |
Xab2 |
C |
T |
8: 3,661,822 (GRCm39) |
G544S |
probably damaging |
Het |
Ythdf3 |
T |
A |
3: 16,259,020 (GRCm39) |
V400E |
possibly damaging |
Het |
Zfand5 |
C |
T |
19: 21,257,060 (GRCm39) |
P147S |
probably benign |
Het |
Zfp768 |
A |
T |
7: 126,944,319 (GRCm39) |
|
probably null |
Het |
Zswim8 |
A |
G |
14: 20,763,521 (GRCm39) |
M423V |
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 |
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'- ACAGCAGCAGTAGCATCCTTAC -3'
(R):5'- GAGCGGTTAGATGCAGACTG -3'
Sequencing Primer
(F):5'- CTCCAAGAGAGGCAGTGCTG -3'
(R):5'- GCAGACTGCGGCTTTCTCAAC -3'
|
Posted On |
2018-03-15 |