Incidental Mutation 'R1801:Filip1'
| ID |
203148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
039831-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R1801 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79723128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1164
(S1164P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093811]
[ENSMUST00000172973]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093811
AA Change: S1164P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: S1164P
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.5%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,230 (GRCm39) |
E362G |
probably damaging |
Het |
| Abcc5 |
T |
C |
16: 20,157,637 (GRCm39) |
M1307V |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,078,954 (GRCm39) |
C423* |
probably null |
Het |
| Adamts9 |
A |
G |
6: 92,840,357 (GRCm39) |
V1142A |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,082,096 (GRCm39) |
N525S |
probably damaging |
Het |
| Bpifa2 |
T |
C |
2: 153,853,424 (GRCm39) |
|
probably null |
Het |
| C7 |
C |
T |
15: 5,041,503 (GRCm39) |
V468I |
possibly damaging |
Het |
| Carf |
A |
T |
1: 60,180,664 (GRCm39) |
H362L |
possibly damaging |
Het |
| Ccdc171 |
A |
C |
4: 83,465,132 (GRCm39) |
I37L |
probably benign |
Het |
| Ccdc182 |
T |
C |
11: 88,185,016 (GRCm39) |
L32P |
possibly damaging |
Het |
| Celsr3 |
A |
T |
9: 108,711,825 (GRCm39) |
D1678V |
possibly damaging |
Het |
| Col7a1 |
A |
T |
9: 108,790,065 (GRCm39) |
Y920F |
unknown |
Het |
| Cpsf3 |
T |
C |
12: 21,363,791 (GRCm39) |
V627A |
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,941 (GRCm39) |
M640T |
probably damaging |
Het |
| Ddi2 |
T |
C |
4: 141,411,283 (GRCm39) |
D543G |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,123 (GRCm39) |
N2972D |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,813,857 (GRCm39) |
D304G |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,026,705 (GRCm39) |
V1232A |
possibly damaging |
Het |
| Ezr |
T |
C |
17: 7,009,771 (GRCm39) |
T358A |
possibly damaging |
Het |
| Gmip |
T |
C |
8: 70,267,127 (GRCm39) |
V341A |
probably benign |
Het |
| Gnb3 |
A |
C |
6: 124,812,599 (GRCm39) |
F286V |
probably benign |
Het |
| Gpatch2 |
T |
A |
1: 186,958,028 (GRCm39) |
S128T |
probably benign |
Het |
| Gpr87 |
T |
C |
3: 59,086,813 (GRCm39) |
R231G |
possibly damaging |
Het |
| Hip1r |
G |
A |
5: 124,136,871 (GRCm39) |
R613Q |
probably benign |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,206 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,517,625 (GRCm39) |
D275V |
probably damaging |
Het |
| Il4 |
G |
T |
11: 53,509,365 (GRCm39) |
H23Q |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,809,053 (GRCm39) |
Y749C |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,506,578 (GRCm39) |
K275R |
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,416,808 (GRCm39) |
R510L |
probably damaging |
Het |
| Lrrc8b |
A |
G |
5: 105,628,689 (GRCm39) |
Y345C |
probably damaging |
Het |
| Med15 |
T |
C |
16: 17,498,599 (GRCm39) |
T98A |
possibly damaging |
Het |
| Mmp1a |
T |
A |
9: 7,475,391 (GRCm39) |
Y387N |
probably damaging |
Het |
| Myrf |
C |
A |
19: 10,191,555 (GRCm39) |
V928L |
probably benign |
Het |
| Nr1d1 |
T |
C |
11: 98,662,325 (GRCm39) |
K134E |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 90,250,356 (GRCm39) |
D305V |
probably damaging |
Het |
| Obscn |
A |
C |
11: 58,889,147 (GRCm39) |
S7542A |
unknown |
Het |
| Or4a27 |
T |
A |
2: 88,559,608 (GRCm39) |
I112F |
probably damaging |
Het |
| Pak4 |
G |
A |
7: 28,264,615 (GRCm39) |
R96C |
probably damaging |
Het |
| Pde6b |
A |
T |
5: 108,575,713 (GRCm39) |
D691V |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,221,601 (GRCm39) |
E171G |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,387,740 (GRCm39) |
V873I |
possibly damaging |
Het |
| Plb1 |
A |
T |
5: 32,450,587 (GRCm39) |
D376V |
probably damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,913,904 (GRCm39) |
Y1209H |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,393,885 (GRCm39) |
C263R |
probably damaging |
Het |
| Psma2 |
A |
T |
13: 14,798,190 (GRCm39) |
Y104F |
probably benign |
Het |
| Ptger4 |
T |
A |
15: 5,272,281 (GRCm39) |
M113L |
possibly damaging |
Het |
| Rgs10 |
T |
G |
7: 128,006,201 (GRCm39) |
D17A |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,592,090 (GRCm39) |
S189P |
possibly damaging |
Het |
| Rsbn1 |
T |
C |
3: 103,822,188 (GRCm39) |
L102P |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,610,167 (GRCm39) |
S655G |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,106,756 (GRCm39) |
|
probably null |
Het |
| Sema4a |
C |
T |
3: 88,344,056 (GRCm39) |
D732N |
probably benign |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,177 (GRCm39) |
D378G |
probably benign |
Het |
| Sh3gl3 |
C |
T |
7: 81,933,327 (GRCm39) |
T230I |
possibly damaging |
Het |
| Slc28a2b |
C |
T |
2: 122,352,133 (GRCm39) |
R324C |
possibly damaging |
Het |
| Slc5a1 |
A |
T |
5: 33,304,297 (GRCm39) |
Q299L |
probably damaging |
Het |
| Ssc5d |
C |
A |
7: 4,939,606 (GRCm39) |
H681N |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,689,360 (GRCm39) |
S10P |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,016,639 (GRCm39) |
|
probably null |
Het |
| Syna |
A |
G |
5: 134,588,943 (GRCm39) |
V2A |
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,141,089 (GRCm39) |
Y299* |
probably null |
Het |
| Tenm3 |
C |
A |
8: 48,729,291 (GRCm39) |
V1572L |
probably benign |
Het |
| Tent4b |
T |
G |
8: 88,977,416 (GRCm39) |
V406G |
probably benign |
Het |
| Trp53rka |
A |
G |
2: 165,333,533 (GRCm39) |
S119P |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,179,874 (GRCm39) |
|
probably null |
Het |
| Uchl4 |
T |
A |
9: 64,142,757 (GRCm39) |
D79E |
probably benign |
Het |
| Vmn2r17 |
C |
A |
5: 109,576,344 (GRCm39) |
T405K |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,998,564 (GRCm39) |
L228P |
probably damaging |
Het |
| Xrcc4 |
T |
G |
13: 90,140,698 (GRCm39) |
E170D |
probably damaging |
Het |
| Zfp945 |
T |
C |
17: 23,070,736 (GRCm39) |
T388A |
probably damaging |
Het |
| Zfp947 |
G |
A |
17: 22,365,443 (GRCm39) |
A77V |
probably benign |
Het |
| Zkscan5 |
G |
A |
5: 145,157,015 (GRCm39) |
G433R |
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 |
|
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 |
|
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'- AGGAAGGTTTGTTTCCACAGC -3'
(R):5'- CAACCCTTTTCCCTAGGATGG -3'
Sequencing Primer
(F):5'- TGTTTCCACAGCAGCAGTAG -3'
(R):5'- GGTTGTTGTGAAATGCCCC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation