Incidental Mutation 'R5387:Filip1'
ID |
425338 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1
|
Ensembl Gene |
ENSMUSG00000034898 |
Gene Name |
filamin A interacting protein 1 |
Synonyms |
FILIP, 5730485H21Rik |
MMRRC Submission |
042959-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.580)
|
Stock # |
R5387 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79725556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1021
(I1021T)
|
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: I1021T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091329 Gene: ENSMUSG00000034898 AA Change: I1021T
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 |
0.0618 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
99% (80/81) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,408,092 (GRCm39) |
S140T |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,981,055 (GRCm39) |
S780P |
probably damaging |
Het |
Ankhd1 |
C |
A |
18: 36,767,697 (GRCm39) |
H1205N |
probably damaging |
Het |
Ano1 |
T |
C |
7: 144,202,356 (GRCm39) |
K139R |
probably benign |
Het |
Anp32b |
T |
G |
4: 46,468,573 (GRCm39) |
C114W |
probably damaging |
Het |
Ascl1 |
C |
T |
10: 87,328,551 (GRCm39) |
A134T |
probably damaging |
Het |
Atl2 |
C |
T |
17: 80,160,229 (GRCm39) |
E453K |
probably benign |
Het |
Aup1 |
C |
T |
6: 83,032,005 (GRCm39) |
A84V |
probably damaging |
Het |
Btbd7 |
A |
T |
12: 102,804,044 (GRCm39) |
M332K |
probably damaging |
Het |
Cacna1d |
A |
G |
14: 29,822,708 (GRCm39) |
V1107A |
probably damaging |
Het |
Cd33 |
G |
A |
7: 43,181,477 (GRCm39) |
Q114* |
probably null |
Het |
Cdhr18 |
C |
A |
14: 13,914,438 (GRCm38) |
M1I |
probably null |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Defb22 |
C |
A |
2: 152,327,826 (GRCm39) |
A120S |
unknown |
Het |
Dnah7b |
A |
G |
1: 46,227,819 (GRCm39) |
I1347M |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 77,025,668 (GRCm39) |
I549T |
possibly damaging |
Het |
Esp15 |
T |
A |
17: 39,955,468 (GRCm39) |
|
probably null |
Het |
Fbxo7 |
A |
G |
10: 85,860,518 (GRCm39) |
T42A |
probably benign |
Het |
Gad1 |
C |
A |
2: 70,394,195 (GRCm39) |
S7* |
probably null |
Het |
H2ac7 |
T |
A |
13: 23,758,841 (GRCm39) |
|
probably null |
Het |
H2-Q7 |
C |
T |
17: 35,658,518 (GRCm39) |
T52M |
probably damaging |
Het |
H2-T3 |
C |
T |
17: 36,497,594 (GRCm39) |
G28R |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ift81 |
A |
G |
5: 122,693,598 (GRCm39) |
Y604H |
probably damaging |
Het |
Igsf11 |
A |
G |
16: 38,842,785 (GRCm39) |
Y154C |
probably damaging |
Het |
Kif26b |
G |
T |
1: 178,742,441 (GRCm39) |
A846S |
probably benign |
Het |
Lnx2 |
G |
A |
5: 146,964,964 (GRCm39) |
P420S |
probably benign |
Het |
Lrit2 |
A |
G |
14: 36,794,216 (GRCm39) |
T427A |
probably damaging |
Het |
Lrrc43 |
G |
T |
5: 123,637,734 (GRCm39) |
|
probably null |
Het |
Mettl25b |
A |
T |
3: 87,837,318 (GRCm39) |
|
probably benign |
Het |
Mug1 |
T |
C |
6: 121,861,353 (GRCm39) |
Y1325H |
probably damaging |
Het |
Naglu |
A |
T |
11: 100,967,550 (GRCm39) |
Y500F |
probably damaging |
Het |
Npy4r |
A |
G |
14: 33,868,940 (GRCm39) |
M116T |
probably benign |
Het |
Nrdc |
A |
G |
4: 108,896,959 (GRCm39) |
Y526C |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,801,972 (GRCm39) |
S472P |
probably benign |
Het |
Or12d2 |
T |
A |
17: 37,625,183 (GRCm39) |
T31S |
probably benign |
Het |
Or12k8 |
T |
C |
2: 36,975,731 (GRCm39) |
T10A |
possibly damaging |
Het |
Otogl |
T |
A |
10: 107,616,794 (GRCm39) |
T1828S |
probably benign |
Het |
Pank2 |
C |
T |
2: 131,116,182 (GRCm39) |
T200I |
probably benign |
Het |
Pbrm1 |
A |
G |
14: 30,804,567 (GRCm39) |
Y946C |
probably damaging |
Het |
Pde12 |
A |
T |
14: 26,387,608 (GRCm39) |
S437T |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,304,427 (GRCm39) |
K1710E |
possibly damaging |
Het |
Plcd3 |
A |
G |
11: 102,969,281 (GRCm39) |
S229P |
probably damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Prkaa2 |
C |
A |
4: 104,897,374 (GRCm39) |
D280Y |
probably damaging |
Het |
Ptprg |
T |
A |
14: 12,153,873 (GRCm38) |
S531R |
probably damaging |
Het |
R3hdm2 |
T |
C |
10: 127,321,303 (GRCm39) |
S620P |
probably damaging |
Het |
Rab33b |
A |
G |
3: 51,400,876 (GRCm39) |
T117A |
probably damaging |
Het |
Rasal2 |
T |
C |
1: 156,985,335 (GRCm39) |
D804G |
possibly damaging |
Het |
Rbp3 |
A |
G |
14: 33,678,370 (GRCm39) |
T773A |
possibly damaging |
Het |
Rspry1 |
A |
G |
8: 95,364,914 (GRCm39) |
T185A |
possibly damaging |
Het |
Sec61a2 |
G |
T |
2: 5,887,356 (GRCm39) |
|
probably benign |
Het |
Setx |
C |
T |
2: 29,037,606 (GRCm39) |
R1364C |
probably benign |
Het |
Shtn1 |
G |
T |
19: 59,026,801 (GRCm39) |
L97M |
probably damaging |
Het |
Slc35f1 |
T |
C |
10: 52,984,260 (GRCm39) |
L340P |
probably damaging |
Het |
Slc45a1 |
T |
A |
4: 150,728,366 (GRCm39) |
|
probably benign |
Het |
Slmap |
T |
C |
14: 26,181,088 (GRCm39) |
E386G |
probably benign |
Het |
Smc2 |
C |
T |
4: 52,475,096 (GRCm39) |
A924V |
probably benign |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Tecta |
G |
A |
9: 42,286,359 (GRCm39) |
L766F |
probably damaging |
Het |
Tle3 |
C |
T |
9: 61,314,771 (GRCm39) |
|
probably null |
Het |
Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
Trappc2b |
A |
T |
11: 51,576,801 (GRCm39) |
D32E |
probably benign |
Het |
Trem1 |
T |
C |
17: 48,548,541 (GRCm39) |
I26T |
possibly damaging |
Het |
Ttc7b |
G |
T |
12: 100,413,222 (GRCm39) |
Q199K |
possibly damaging |
Het |
Ubap2l |
T |
C |
3: 89,913,903 (GRCm39) |
Y975C |
probably benign |
Het |
Ubxn11 |
C |
A |
4: 133,850,737 (GRCm39) |
D196E |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,569,180 (GRCm39) |
H945R |
possibly damaging |
Het |
Usp15 |
A |
G |
10: 122,967,191 (GRCm39) |
I405T |
probably damaging |
Het |
Uty |
C |
T |
Y: 1,189,339 (GRCm39) |
E138K |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,399,252 (GRCm39) |
E107G |
probably benign |
Het |
Wbp1l |
T |
C |
19: 46,632,896 (GRCm39) |
|
probably null |
Het |
Zfp184 |
T |
G |
13: 22,133,810 (GRCm39) |
|
probably benign |
Het |
Zfp36 |
A |
C |
7: 28,077,293 (GRCm39) |
L205R |
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 |
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 |
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'- TAACTGGACTCACGCCTTCC -3'
(R):5'- CCCAATGTCATGTCGCAAAAG -3'
Sequencing Primer
(F):5'- CCTTCCGCTGCTGCAGG -3'
(R):5'- TGTCGCAAAAGCCCAAAAGTG -3'
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Posted On |
2016-08-04 |