Incidental Mutation 'R8305:Filip1'
| ID |
641014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
067716-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R8305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
79712376-79920133 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 79727757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 287
(Y287*)
|
| 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: Y287*
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: Y287*
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
98% (65/66) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,208,844 (GRCm39) |
E243K |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,696,423 (GRCm39) |
H58Q |
probably benign |
Het |
| Actl7a |
T |
A |
4: 56,743,744 (GRCm39) |
F90L |
probably benign |
Het |
| Adam5 |
G |
A |
8: 25,300,719 (GRCm39) |
A270V |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 98,919,548 (GRCm39) |
T103A |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,780,219 (GRCm39) |
L1757P |
possibly damaging |
Het |
| Apoa4 |
T |
A |
9: 46,152,453 (GRCm39) |
M1K |
probably null |
Het |
| Arih1 |
T |
A |
9: 59,303,770 (GRCm39) |
Q445L |
probably benign |
Het |
| Asb14 |
A |
T |
14: 26,634,054 (GRCm39) |
I420L |
probably benign |
Het |
| Bbs2 |
A |
C |
8: 94,800,953 (GRCm39) |
V626G |
probably damaging |
Het |
| Cep290 |
C |
A |
10: 100,380,796 (GRCm39) |
A1678D |
probably benign |
Het |
| Cilp |
G |
A |
9: 65,186,286 (GRCm39) |
G794S |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,464,927 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
T |
A |
3: 144,531,698 (GRCm39) |
N702I |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,179,937 (GRCm39) |
V1143A |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,388,863 (GRCm39) |
T223A |
probably benign |
Het |
| Defa30 |
A |
T |
8: 21,625,475 (GRCm39) |
T80S |
probably benign |
Het |
| Dennd1a |
G |
A |
2: 37,748,093 (GRCm39) |
L375F |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,480,984 (GRCm39) |
T675I |
probably damaging |
Het |
| Emc9 |
A |
G |
14: 55,822,556 (GRCm39) |
V4A |
probably damaging |
Het |
| Enpp3 |
C |
G |
10: 24,700,827 (GRCm39) |
|
probably null |
Het |
| Fam117b |
A |
G |
1: 59,952,782 (GRCm39) |
T154A |
probably benign |
Het |
| Flt3 |
T |
C |
5: 147,284,864 (GRCm39) |
D751G |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,918,226 (GRCm39) |
Q572L |
probably benign |
Het |
| Gja10 |
G |
A |
4: 32,602,441 (GRCm39) |
|
probably benign |
Het |
| Gm39115 |
A |
G |
7: 141,689,360 (GRCm39) |
C138R |
unknown |
Het |
| Gm7356 |
T |
A |
17: 14,221,699 (GRCm39) |
Y110F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,952,747 (GRCm39) |
K233R |
probably benign |
Het |
| Igkv9-129 |
A |
T |
6: 67,817,206 (GRCm39) |
E103D |
probably benign |
Het |
| Igsf11 |
C |
A |
16: 38,827,586 (GRCm39) |
T48N |
probably damaging |
Het |
| Itpkc |
A |
T |
7: 26,913,944 (GRCm39) |
Y506N |
probably damaging |
Het |
| Kat2a |
A |
C |
11: 100,600,304 (GRCm39) |
M357R |
possibly damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,132 (GRCm39) |
R233G |
possibly damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,726,197 (GRCm39) |
C563* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,018 (GRCm39) |
V456A |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,428,825 (GRCm39) |
V45A |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,289,414 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
T |
A |
1: 127,745,007 (GRCm39) |
E1177D |
|
Het |
| Mdn1 |
G |
T |
4: 32,725,107 (GRCm39) |
L2575F |
probably benign |
Het |
| Mga |
T |
A |
2: 119,776,800 (GRCm39) |
M1569K |
possibly damaging |
Het |
| Mvk |
T |
C |
5: 114,588,840 (GRCm39) |
Y161H |
probably damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,389 (GRCm39) |
M276K |
probably benign |
Het |
| Or14c44 |
G |
T |
7: 86,061,987 (GRCm39) |
C139F |
probably damaging |
Het |
| Or2n1 |
C |
A |
17: 38,486,464 (GRCm39) |
T163K |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,583,075 (GRCm39) |
V727E |
possibly damaging |
Het |
| Pcsk7 |
T |
G |
9: 45,821,707 (GRCm39) |
V167G |
probably damaging |
Het |
| Plin5 |
T |
C |
17: 56,422,221 (GRCm39) |
D146G |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,188,000 (GRCm39) |
G879R |
possibly damaging |
Het |
| Prss58 |
C |
T |
6: 40,872,594 (GRCm39) |
A171T |
probably benign |
Het |
| Pum1 |
A |
G |
4: 130,499,231 (GRCm39) |
I1016V |
probably benign |
Het |
| Rbm43 |
A |
G |
2: 51,816,712 (GRCm39) |
V85A |
probably damaging |
Het |
| Rdh16f2 |
T |
A |
10: 127,712,864 (GRCm39) |
D287E |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,702,812 (GRCm39) |
L393Q |
probably damaging |
Het |
| Sbf2 |
T |
G |
7: 109,970,825 (GRCm39) |
H857P |
possibly damaging |
Het |
| Scn8a |
A |
C |
15: 100,938,387 (GRCm39) |
T1919P |
probably benign |
Het |
| Sema6b |
C |
T |
17: 56,434,084 (GRCm39) |
G377E |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,975,603 (GRCm39) |
D436E |
probably damaging |
Het |
| Slc6a17 |
T |
A |
3: 107,380,901 (GRCm39) |
I535F |
probably benign |
Het |
| Sptbn2 |
T |
A |
19: 4,779,158 (GRCm39) |
S281T |
possibly damaging |
Het |
| Stt3b |
T |
C |
9: 115,083,999 (GRCm39) |
I392M |
probably damaging |
Het |
| Tfap2b |
T |
C |
1: 19,296,660 (GRCm39) |
V201A |
possibly damaging |
Het |
| Timm10b |
T |
C |
7: 105,289,876 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
A |
C |
7: 67,312,135 (GRCm39) |
D14A |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,923,011 (GRCm39) |
L636I |
possibly damaging |
Het |
| Vgll4 |
G |
T |
6: 114,867,613 (GRCm39) |
H79Q |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,858 (GRCm39) |
I3047T |
|
Het |
| Zan |
T |
C |
5: 137,448,813 (GRCm39) |
E1680G |
unknown |
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 |
|
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'- TTCCTCGGCCTTCTGAAGAC -3'
(R):5'- CCTTGAGCAAGAAAAGGCTTAC -3'
Sequencing Primer
(F):5'- GAAGACTTTTATTGGTCTCTTCCAG -3'
(R):5'- TTACCAAGCCCGCAAAGAAAAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation