Incidental Mutation 'R7218:Filip1'
| ID |
561604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
045290-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.499)
|
| Stock # |
R7218 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79725356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1088
(S1088G)
|
| 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: S1088G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: S1088G
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (69/69) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
T |
C |
17: 46,043,977 (GRCm39) |
T94A |
unknown |
Het |
| 1700025G04Rik |
T |
C |
1: 151,791,259 (GRCm39) |
R101G |
probably damaging |
Het |
| 6430548M08Rik |
T |
A |
8: 120,872,322 (GRCm39) |
S83R |
probably damaging |
Het |
| Actn2 |
A |
G |
13: 12,293,799 (GRCm39) |
S574P |
probably benign |
Het |
| Ank |
A |
T |
15: 27,544,407 (GRCm39) |
Y56F |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,191 (GRCm39) |
D74G |
probably benign |
Het |
| Apaf1 |
T |
A |
10: 90,872,864 (GRCm39) |
T738S |
probably damaging |
Het |
| Apcs |
A |
T |
1: 172,722,231 (GRCm39) |
D38E |
possibly damaging |
Het |
| Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
| Atp8a1 |
T |
A |
5: 67,860,324 (GRCm39) |
D717V |
|
Het |
| Baiap2l1 |
A |
G |
5: 144,212,687 (GRCm39) |
S443P |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,886,390 (GRCm39) |
H149L |
probably damaging |
Het |
| Brix1 |
T |
C |
15: 10,483,378 (GRCm39) |
|
probably null |
Het |
| C1qtnf6 |
T |
C |
15: 78,411,574 (GRCm39) |
E34G |
probably benign |
Het |
| Chil3 |
A |
C |
3: 106,067,853 (GRCm39) |
|
probably null |
Het |
| Chmp4c |
T |
A |
3: 10,432,198 (GRCm39) |
L36Q |
probably damaging |
Het |
| Chrna2 |
T |
A |
14: 66,381,320 (GRCm39) |
|
probably null |
Het |
| Clec1a |
C |
T |
6: 129,413,918 (GRCm39) |
C57Y |
probably damaging |
Het |
| Clec7a |
G |
T |
6: 129,445,885 (GRCm39) |
T95K |
probably damaging |
Het |
| Csf1r |
C |
A |
18: 61,263,396 (GRCm39) |
S926R |
probably damaging |
Het |
| Dnajc9 |
A |
G |
14: 20,438,507 (GRCm39) |
I61T |
probably benign |
Het |
| Extl1 |
T |
G |
4: 134,087,080 (GRCm39) |
S493R |
probably benign |
Het |
| Fance |
A |
G |
17: 28,545,148 (GRCm39) |
D143G |
probably benign |
Het |
| Fcho2 |
C |
T |
13: 98,890,121 (GRCm39) |
|
probably null |
Het |
| Gnat1 |
A |
C |
9: 107,553,184 (GRCm39) |
M319R |
possibly damaging |
Het |
| Gpr132 |
A |
T |
12: 112,816,049 (GRCm39) |
V259E |
probably damaging |
Het |
| Gprc5d |
T |
A |
6: 135,093,452 (GRCm39) |
M152L |
probably benign |
Het |
| Hif3a |
C |
T |
7: 16,784,513 (GRCm39) |
R244H |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,952,649 (GRCm39) |
S322P |
possibly damaging |
Het |
| Il33 |
T |
A |
19: 29,936,325 (GRCm39) |
F229I |
probably damaging |
Het |
| Il4ra |
A |
G |
7: 125,174,950 (GRCm39) |
D386G |
probably benign |
Het |
| Ino80 |
G |
T |
2: 119,288,608 (GRCm39) |
H33N |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,922,781 (GRCm39) |
D228G |
unknown |
Het |
| Mamdc2 |
C |
T |
19: 23,424,974 (GRCm39) |
A40T |
probably benign |
Het |
| Meis3 |
T |
C |
7: 15,918,626 (GRCm39) |
V357A |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,371,282 (GRCm39) |
T4199A |
probably benign |
Het |
| Myo7b |
A |
T |
18: 32,114,054 (GRCm39) |
M1099K |
probably benign |
Het |
| Mzb1 |
A |
T |
18: 35,780,975 (GRCm39) |
H104Q |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,413,184 (GRCm39) |
L167P |
probably benign |
Het |
| Numa1 |
A |
T |
7: 101,650,117 (GRCm39) |
S1283C |
probably benign |
Het |
| Nup98 |
T |
G |
7: 101,841,107 (GRCm39) |
|
probably null |
Het |
| Or13p4 |
T |
C |
4: 118,547,215 (GRCm39) |
I145V |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,566,874 (GRCm39) |
L90P |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,386,091 (GRCm39) |
T1243A |
possibly damaging |
Het |
| Pramel39-ps |
C |
A |
5: 94,451,113 (GRCm39) |
V338F |
probably benign |
Het |
| Ptpro |
C |
T |
6: 137,431,596 (GRCm39) |
R1152W |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,389,284 (GRCm39) |
T1270A |
probably damaging |
Het |
| Pwwp2b |
A |
C |
7: 138,836,049 (GRCm39) |
T497P |
probably damaging |
Het |
| Rab44 |
T |
A |
17: 29,358,418 (GRCm39) |
V202E |
|
Het |
| Rbfox1 |
C |
T |
16: 7,111,947 (GRCm39) |
T191I |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,172,174 (GRCm39) |
K299R |
probably damaging |
Het |
| Snip1 |
T |
A |
4: 124,966,712 (GRCm39) |
S381T |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,199,961 (GRCm39) |
I2889V |
possibly damaging |
Het |
| Spopfm2 |
A |
T |
3: 94,082,856 (GRCm39) |
H318Q |
possibly damaging |
Het |
| St3gal3 |
T |
A |
4: 117,814,639 (GRCm39) |
D218V |
|
Het |
| Sun1 |
A |
G |
5: 139,212,442 (GRCm39) |
T70A |
unknown |
Het |
| Tbc1d23 |
C |
T |
16: 56,990,745 (GRCm39) |
V678M |
probably damaging |
Het |
| Tdh |
T |
A |
14: 63,733,206 (GRCm39) |
Y195F |
probably damaging |
Het |
| Tescl |
C |
T |
7: 24,033,286 (GRCm39) |
R13H |
possibly damaging |
Het |
| Tfap2c |
T |
A |
2: 172,399,277 (GRCm39) |
M508K |
probably benign |
Het |
| Trappc4 |
A |
G |
9: 44,316,587 (GRCm39) |
M136T |
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,016,350 (GRCm39) |
C1207R |
probably damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,229,398 (GRCm39) |
Y355C |
probably damaging |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,572 (GRCm39) |
H270L |
probably benign |
Het |
| Vmn2r20 |
G |
A |
6: 123,363,074 (GRCm39) |
P570L |
probably damaging |
Het |
| Wnk1 |
A |
C |
6: 119,979,234 (GRCm39) |
Y284* |
probably null |
Het |
| Yars2 |
C |
T |
16: 16,121,182 (GRCm39) |
A112V |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,995,024 (GRCm39) |
N470S |
probably damaging |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,852 (GRCm39) |
S417T |
probably benign |
Het |
| Zfp879 |
A |
C |
11: 50,723,508 (GRCm39) |
V516G |
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 |
|
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 |
|
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'- CACTGATTGGGTTCCTCGTG -3'
(R):5'- AATGACGGTGTCAACGTCTGC -3'
Sequencing Primer
(F):5'- CGTGTGGATGACGTTGTGACC -3'
(R):5'- CTGACTCTCAGGAAGTGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation