Incidental Mutation 'R9541:Filip1'
| ID |
719884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R9541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 79727135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 495
(K495*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093811]
[ENSMUST00000172973]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093811
AA Change: K495*
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: K495*
| 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 |
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: 99.9%
- 10x: 99.1%
- 20x: 96.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,801,079 (GRCm39) |
I450V |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,607,724 (GRCm39) |
T13A |
probably benign |
Het |
| Adamts4 |
C |
A |
1: 171,084,695 (GRCm39) |
P644H |
probably damaging |
Het |
| Ak9 |
C |
T |
10: 41,243,173 (GRCm39) |
A689V |
|
Het |
| Ankhd1 |
G |
A |
18: 36,757,697 (GRCm39) |
S209N |
|
Het |
| Anks1b |
A |
T |
10: 90,412,947 (GRCm39) |
T32S |
probably benign |
Het |
| Atp13a4 |
G |
T |
16: 29,241,544 (GRCm39) |
T708K |
|
Het |
| B4gat1 |
C |
T |
19: 5,089,896 (GRCm39) |
P298S |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,439,438 (GRCm39) |
L583P |
possibly damaging |
Het |
| Ciart |
C |
A |
3: 95,788,527 (GRCm39) |
C104F |
possibly damaging |
Het |
| Coq5 |
T |
C |
5: 115,417,901 (GRCm39) |
S44P |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,899,872 (GRCm39) |
V1175A |
probably benign |
Het |
| Fscn2 |
G |
A |
11: 120,258,771 (GRCm39) |
V439M |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,754,416 (GRCm39) |
I2339V |
probably benign |
Het |
| Gmppa |
T |
A |
1: 75,417,094 (GRCm39) |
S176R |
probably damaging |
Het |
| Gpatch3 |
G |
A |
4: 133,305,595 (GRCm39) |
E277K |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,767,685 (GRCm39) |
D1082G |
probably damaging |
Het |
| Hdgfl2 |
T |
A |
17: 56,405,976 (GRCm39) |
D487E |
unknown |
Het |
| Ifna14 |
A |
T |
4: 88,490,010 (GRCm39) |
M9K |
probably null |
Het |
| Igkv4-81 |
A |
G |
6: 68,967,925 (GRCm39) |
Y59H |
|
Het |
| Il2rb |
T |
A |
15: 78,372,393 (GRCm39) |
N108I |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Kdm5d |
T |
G |
Y: 910,801 (GRCm39) |
C304W |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,109 (GRCm39) |
I121T |
possibly damaging |
Het |
| Lmcd1 |
A |
T |
6: 112,306,824 (GRCm39) |
H332L |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,234,600 (GRCm39) |
D1117G |
|
Het |
| Med25 |
A |
G |
7: 44,541,267 (GRCm39) |
V82A |
possibly damaging |
Het |
| Mindy2 |
G |
A |
9: 70,512,508 (GRCm39) |
R581C |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,391,449 (GRCm39) |
T257A |
probably damaging |
Het |
| Myo1e |
A |
T |
9: 70,204,628 (GRCm39) |
Y76F |
probably damaging |
Het |
| Npas2 |
A |
T |
1: 39,377,194 (GRCm39) |
I519F |
possibly damaging |
Het |
| Or2h2c |
C |
T |
17: 37,422,824 (GRCm39) |
D17N |
probably benign |
Het |
| Or4f52 |
T |
A |
2: 111,061,275 (GRCm39) |
T288S |
probably damaging |
Het |
| Or5ak25 |
T |
A |
2: 85,269,025 (GRCm39) |
H159L |
possibly damaging |
Het |
| Otx1 |
A |
G |
11: 21,947,052 (GRCm39) |
F86L |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,780,616 (GRCm39) |
D1856G |
probably benign |
Het |
| Pcsk7 |
G |
A |
9: 45,820,768 (GRCm39) |
E67K |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,607,927 (GRCm39) |
Y142C |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,266,740 (GRCm39) |
D236G |
probably benign |
Het |
| Rasd2 |
T |
C |
8: 75,945,200 (GRCm39) |
C10R |
probably benign |
Het |
| Rd3 |
C |
A |
1: 191,717,294 (GRCm39) |
R140S |
possibly damaging |
Het |
| Rusc1 |
T |
G |
3: 88,998,922 (GRCm39) |
T287P |
possibly damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,749,084 (GRCm39) |
S78G |
probably damaging |
Het |
| Sltm |
A |
T |
9: 70,481,057 (GRCm39) |
H303L |
unknown |
Het |
| Syne4 |
G |
A |
7: 30,016,343 (GRCm39) |
V228I |
probably benign |
Het |
| Timm22 |
T |
A |
11: 76,300,641 (GRCm39) |
C138S |
possibly damaging |
Het |
| Trib2 |
T |
A |
12: 15,866,827 (GRCm39) |
I15L |
unknown |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tyro3 |
T |
C |
2: 119,642,589 (GRCm39) |
V591A |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,209 (GRCm39) |
V643A |
probably benign |
Het |
| Zfp281 |
G |
T |
1: 136,555,303 (GRCm39) |
Q760H |
probably 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 |
|
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 |
|
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'- GTCTGAACTGGAGAAGCTGG -3'
Sequencing Primer
(F):5'- AGCTCAGTTCACAGGACCTTTC -3'
(R):5'- AAGCTGGAGGAGGCCTTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation