Incidental Mutation 'R7866:Filip1'
| ID |
607785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
045918-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R7866 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79726225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 798
(V798A)
|
| 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: V798A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: V798A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,317,269 (GRCm39) |
R194* |
probably null |
Het |
| Actl6a |
A |
G |
3: 32,766,262 (GRCm39) |
T39A |
possibly damaging |
Het |
| Adamts6 |
T |
A |
13: 104,550,257 (GRCm39) |
C624* |
probably null |
Het |
| Adgrl1 |
T |
C |
8: 84,664,564 (GRCm39) |
|
probably null |
Het |
| Ap3m2 |
A |
G |
8: 23,289,674 (GRCm39) |
V143A |
probably benign |
Het |
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Aqp5 |
T |
A |
15: 99,489,424 (GRCm39) |
V91E |
probably damaging |
Het |
| Atp6v0b |
A |
T |
4: 117,742,350 (GRCm39) |
I181N |
probably damaging |
Het |
| Ccp110 |
T |
A |
7: 118,322,241 (GRCm39) |
M632K |
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,672,604 (GRCm39) |
|
probably null |
Het |
| Cidea |
G |
A |
18: 67,491,854 (GRCm39) |
R38Q |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,042 (GRCm39) |
I86T |
probably benign |
Het |
| Col14a1 |
C |
A |
15: 55,252,016 (GRCm39) |
D557E |
unknown |
Het |
| Col6a6 |
T |
C |
9: 105,566,760 (GRCm39) |
Y2245C |
probably damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,725,092 (GRCm39) |
N196Y |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 31,093,901 (GRCm39) |
V4665A |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,716,113 (GRCm39) |
T267A |
|
Het |
| Dtx3l |
T |
A |
16: 35,759,120 (GRCm39) |
Q43L |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,080,738 (GRCm39) |
S59P |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,758,126 (GRCm39) |
T435A |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,333,925 (GRCm39) |
F1090I |
probably benign |
Het |
| Fnip1 |
T |
G |
11: 54,356,228 (GRCm39) |
|
probably benign |
Het |
| Gabrb2 |
C |
T |
11: 42,378,050 (GRCm39) |
Q89* |
probably null |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,063 (GRCm39) |
V882E |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,532,804 (GRCm39) |
M1K |
probably null |
Het |
| Ift70b |
A |
G |
2: 75,766,963 (GRCm39) |
S597P |
possibly damaging |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,025 (GRCm39) |
D90V |
possibly damaging |
Het |
| Igkv4-54 |
G |
A |
6: 69,608,740 (GRCm39) |
R60C |
probably benign |
Het |
| Igkv7-33 |
G |
T |
6: 70,035,847 (GRCm39) |
A45D |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 43,762,168 (GRCm39) |
I15F |
possibly damaging |
Het |
| Lamp3 |
T |
A |
16: 19,518,490 (GRCm39) |
D249V |
probably benign |
Het |
| Lrrfip2 |
T |
C |
9: 111,022,149 (GRCm39) |
V125A |
possibly damaging |
Het |
| Mprip |
G |
A |
11: 59,643,756 (GRCm39) |
R638H |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,349,589 (GRCm39) |
M501V |
probably benign |
Het |
| Myo5a |
C |
T |
9: 75,111,034 (GRCm39) |
P1509S |
probably damaging |
Het |
| Ngdn |
A |
G |
14: 55,258,554 (GRCm39) |
Y63C |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,259,852 (GRCm39) |
V517A |
probably benign |
Het |
| Or8g21 |
A |
T |
9: 38,906,027 (GRCm39) |
S235T |
not run |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,512 (GRCm39) |
F281I |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,809,881 (GRCm39) |
Q3520K |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,929,525 (GRCm39) |
I127N |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,655,390 (GRCm39) |
N319I |
probably damaging |
Het |
| Pxn |
T |
C |
5: 115,686,665 (GRCm39) |
S386P |
possibly damaging |
Het |
| Ralgps2 |
C |
T |
1: 156,714,738 (GRCm39) |
V104I |
probably benign |
Het |
| Rp1 |
C |
T |
1: 4,417,924 (GRCm39) |
V1063I |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,532 (GRCm39) |
F376Y |
probably damaging |
Het |
| Snd1 |
T |
A |
6: 28,527,724 (GRCm39) |
I277N |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,406 (GRCm39) |
|
probably null |
Het |
| Tex29 |
A |
G |
8: 11,894,055 (GRCm39) |
N6D |
unknown |
Het |
| Top6bl |
T |
A |
19: 4,748,514 (GRCm39) |
R61S |
unknown |
Het |
| Ttc6 |
G |
A |
12: 57,721,435 (GRCm39) |
A975T |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,320,560 (GRCm39) |
E13G |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,211,927 (GRCm39) |
C98G |
possibly damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,240,190 (GRCm39) |
D65V |
probably damaging |
Het |
| Unc93b1 |
A |
T |
19: 3,985,243 (GRCm39) |
D17V |
not run |
Het |
| Usf1 |
G |
T |
1: 171,245,462 (GRCm39) |
W291C |
unknown |
Het |
| Vps29 |
T |
C |
5: 122,500,180 (GRCm39) |
W97R |
possibly damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,577 (GRCm39) |
E117G |
probably damaging |
Het |
| Zfp735 |
A |
C |
11: 73,601,629 (GRCm39) |
D191A |
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 |
|
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 |
|
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'- TCCAAGACTTCCTCATGGTGAG -3'
(R):5'- TGAACAAGGAAGATCAGCTCTCTC -3'
Sequencing Primer
(F):5'- AAGACTTCCTCATGGTGAGTTCATTG -3'
(R):5'- CAGCTCCAGGTCGACTATTCGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation