Incidental Mutation 'R5891:Filip1'
ID |
457193 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1
|
Ensembl Gene |
ENSMUSG00000034898 |
Gene Name |
filamin A interacting protein 1 |
Synonyms |
FILIP, 5730485H21Rik |
MMRRC Submission |
044092-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.499)
|
Stock # |
R5891 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 79727142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 492
(L492F)
|
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: L492F
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000091329 Gene: ENSMUSG00000034898 AA Change: L492F
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 |
0.0635 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
96% (85/89) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
A |
T |
16: 56,426,496 (GRCm39) |
T504S |
probably damaging |
Het |
Adamtsl4 |
C |
A |
3: 95,589,623 (GRCm39) |
R387L |
possibly damaging |
Het |
Adgb |
G |
A |
10: 10,253,591 (GRCm39) |
Q1224* |
probably null |
Het |
Ankrd40 |
T |
A |
11: 94,225,689 (GRCm39) |
F240Y |
probably damaging |
Het |
Asnsd1 |
A |
T |
1: 53,387,136 (GRCm39) |
Y164N |
probably benign |
Het |
Atf7ip |
A |
T |
6: 136,536,975 (GRCm39) |
E69D |
possibly damaging |
Het |
Atm |
T |
C |
9: 53,408,459 (GRCm39) |
T1129A |
probably benign |
Het |
Atosa |
C |
G |
9: 74,911,668 (GRCm39) |
C46W |
probably damaging |
Het |
AU021092 |
T |
C |
16: 5,029,995 (GRCm39) |
D340G |
probably benign |
Het |
Baz2a |
T |
A |
10: 127,957,191 (GRCm39) |
I978N |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,108,793 (GRCm39) |
|
probably benign |
Het |
Bcl9 |
A |
G |
3: 97,116,204 (GRCm39) |
L830P |
probably damaging |
Het |
Bicral |
T |
C |
17: 47,112,155 (GRCm39) |
N1015S |
probably benign |
Het |
Ccdc9b |
T |
A |
2: 118,591,864 (GRCm39) |
D92V |
probably damaging |
Het |
Ceacam3 |
C |
A |
7: 16,885,718 (GRCm39) |
T107N |
probably damaging |
Het |
Cep83 |
T |
C |
10: 94,561,537 (GRCm39) |
V109A |
probably benign |
Het |
Ces1e |
A |
G |
8: 93,929,894 (GRCm39) |
V463A |
possibly damaging |
Het |
Ciao1 |
A |
G |
2: 127,089,054 (GRCm39) |
V55A |
probably benign |
Het |
Col19a1 |
T |
C |
1: 24,328,806 (GRCm39) |
E900G |
probably damaging |
Het |
Commd3 |
A |
G |
2: 18,678,626 (GRCm39) |
|
probably benign |
Het |
Coro1c |
A |
G |
5: 113,988,872 (GRCm39) |
I157T |
probably damaging |
Het |
Cplane1 |
A |
G |
15: 8,218,073 (GRCm39) |
I828V |
probably benign |
Het |
Ctso |
T |
A |
3: 81,861,561 (GRCm39) |
F311L |
probably benign |
Het |
Cxcl10 |
A |
G |
5: 92,496,083 (GRCm39) |
|
probably benign |
Het |
Daam1 |
C |
A |
12: 71,990,923 (GRCm39) |
T179N |
unknown |
Het |
Ddx24 |
T |
C |
12: 103,390,317 (GRCm39) |
K225E |
probably damaging |
Het |
Dnajc16 |
T |
C |
4: 141,502,703 (GRCm39) |
T278A |
probably benign |
Het |
Dnajc2 |
A |
T |
5: 21,966,709 (GRCm39) |
N345K |
possibly damaging |
Het |
Dnpep |
G |
T |
1: 75,288,456 (GRCm39) |
Q395K |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,580,654 (GRCm39) |
|
probably null |
Het |
Exoc1 |
A |
G |
5: 76,689,991 (GRCm39) |
D177G |
probably damaging |
Het |
Fam135b |
C |
T |
15: 71,397,652 (GRCm39) |
R136H |
probably damaging |
Het |
Flvcr2 |
A |
T |
12: 85,843,002 (GRCm39) |
I359F |
possibly damaging |
Het |
Gmcl1 |
A |
G |
6: 86,684,425 (GRCm39) |
W366R |
probably damaging |
Het |
Htt |
A |
G |
5: 35,028,167 (GRCm39) |
T1808A |
possibly damaging |
Het |
Ighv5-4 |
C |
A |
12: 113,561,249 (GRCm39) |
R57L |
probably damaging |
Het |
Il12rb2 |
A |
T |
6: 67,337,674 (GRCm39) |
I69N |
probably damaging |
Het |
Irf5 |
A |
T |
6: 29,529,424 (GRCm39) |
|
probably benign |
Het |
Kif13b |
T |
G |
14: 65,025,854 (GRCm39) |
|
probably null |
Het |
Klkb1 |
T |
A |
8: 45,723,703 (GRCm39) |
T571S |
probably benign |
Het |
Mapkbp1 |
G |
T |
2: 119,854,413 (GRCm39) |
E1337* |
probably null |
Het |
Met |
A |
G |
6: 17,491,538 (GRCm39) |
D100G |
probably benign |
Het |
Mgam |
T |
A |
6: 40,721,282 (GRCm39) |
D183E |
probably benign |
Het |
Mrgprb13 |
T |
C |
7: 47,962,007 (GRCm39) |
|
noncoding transcript |
Het |
Mrgprx2 |
T |
C |
7: 48,131,994 (GRCm39) |
T275A |
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,169,337 (GRCm39) |
Q671K |
possibly damaging |
Het |
Nckipsd |
T |
A |
9: 108,685,808 (GRCm39) |
S42R |
probably damaging |
Het |
Nlrp12 |
T |
A |
7: 3,267,933 (GRCm39) |
|
probably benign |
Het |
Or12j2 |
C |
T |
7: 139,916,513 (GRCm39) |
T246I |
probably benign |
Het |
Or12k8 |
T |
A |
2: 36,974,990 (GRCm39) |
M257L |
probably benign |
Het |
Or4k47 |
A |
T |
2: 111,451,778 (GRCm39) |
L214M |
probably damaging |
Het |
Or5p5 |
C |
T |
7: 107,414,387 (GRCm39) |
P199S |
probably damaging |
Het |
Otoa |
T |
A |
7: 120,731,583 (GRCm39) |
|
probably null |
Het |
Pfkm |
T |
A |
15: 98,020,571 (GRCm39) |
C233* |
probably null |
Het |
Pikfyve |
A |
G |
1: 65,241,896 (GRCm39) |
Y212C |
probably damaging |
Het |
Ptprq |
T |
A |
10: 107,412,756 (GRCm39) |
D1781V |
possibly damaging |
Het |
Pttg1ip |
A |
G |
10: 77,418,274 (GRCm39) |
|
probably benign |
Het |
Rab6a |
T |
A |
7: 100,288,454 (GRCm39) |
|
probably null |
Het |
Rbm11 |
C |
T |
16: 75,395,725 (GRCm39) |
A132V |
possibly damaging |
Het |
Septin4 |
G |
T |
11: 87,479,750 (GRCm39) |
|
probably benign |
Het |
Serpinb8 |
A |
G |
1: 107,533,575 (GRCm39) |
E210G |
probably damaging |
Het |
Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
Slco5a1 |
A |
G |
1: 13,060,626 (GRCm39) |
F32L |
probably benign |
Het |
Smad2 |
A |
G |
18: 76,433,046 (GRCm39) |
E326G |
probably damaging |
Het |
Sp9 |
T |
A |
2: 73,104,595 (GRCm39) |
L383Q |
probably damaging |
Het |
Stx11 |
T |
C |
10: 12,817,559 (GRCm39) |
N55S |
probably damaging |
Het |
Tbc1d15 |
T |
A |
10: 115,056,213 (GRCm39) |
Q253L |
probably benign |
Het |
Tcf7l1 |
T |
A |
6: 72,614,034 (GRCm39) |
|
probably benign |
Het |
Tdrd9 |
T |
A |
12: 112,009,153 (GRCm39) |
S1020T |
probably damaging |
Het |
Tead3 |
A |
T |
17: 28,560,339 (GRCm39) |
D88E |
probably damaging |
Het |
Tnrc18 |
A |
G |
5: 142,800,926 (GRCm39) |
S11P |
probably damaging |
Homo |
Trpc3 |
G |
T |
3: 36,725,171 (GRCm39) |
D268E |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,576,085 (GRCm39) |
V23190A |
possibly damaging |
Het |
Ubr4 |
T |
A |
4: 139,135,937 (GRCm39) |
Y908* |
probably null |
Het |
Urb2 |
G |
T |
8: 124,757,595 (GRCm39) |
V1101L |
possibly damaging |
Het |
Usp9y |
A |
T |
Y: 1,341,535 (GRCm39) |
D1375E |
probably benign |
Het |
Zcchc7 |
T |
C |
4: 44,895,838 (GRCm39) |
L262P |
probably damaging |
Het |
Zdhhc7 |
T |
A |
8: 120,811,639 (GRCm39) |
H188L |
probably benign |
Het |
Zfp518a |
T |
A |
19: 40,900,877 (GRCm39) |
C269S |
probably damaging |
Het |
Zfp933 |
T |
C |
4: 147,911,231 (GRCm39) |
K90E |
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 |
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'- TGCAGCTCAGTTCACAGGAC -3'
(R):5'- TGTCTGAACTGGAGAAGCTGG -3'
Sequencing Primer
(F):5'- AGCTCAGTTCACAGGACCTTTC -3'
(R):5'- AAGCTGGAGGAGGCCTTC -3'
|
Posted On |
2017-02-15 |