Incidental Mutation 'R8097:Filip1'
| ID |
630248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1
|
| Ensembl Gene |
ENSMUSG00000034898 |
| Gene Name |
filamin A interacting protein 1 |
| Synonyms |
FILIP, 5730485H21Rik |
| MMRRC Submission |
067529-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.580)
|
| Stock # |
R8097 (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 79725541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1026
(D1026G)
|
| 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: D1026G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091329
Gene: ENSMUSG00000034898
AA Change: D1026G
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
100% (64/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,805,394 (GRCm39) |
M749I |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,743,711 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
G |
A |
4: 129,901,690 (GRCm39) |
C438Y |
probably damaging |
Het |
| Amn1 |
G |
A |
6: 149,070,853 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,887,286 (GRCm39) |
R319W |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,510,115 (GRCm39) |
E830G |
probably benign |
Het |
| Ccdc71 |
T |
C |
9: 108,340,751 (GRCm39) |
V188A |
probably benign |
Het |
| Ceacam11 |
A |
T |
7: 17,709,455 (GRCm39) |
R218* |
probably null |
Het |
| Col18a1 |
A |
C |
10: 76,948,342 (GRCm39) |
L390R |
unknown |
Het |
| Cps1 |
A |
G |
1: 67,267,429 (GRCm39) |
N1399S |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,847,845 (GRCm39) |
E98G |
probably damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,586,836 (GRCm39) |
|
probably null |
Het |
| Cyp2d11 |
C |
A |
15: 82,274,581 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
G |
A |
4: 96,103,647 (GRCm39) |
T296I |
possibly damaging |
Het |
| Dcc |
C |
T |
18: 71,812,573 (GRCm39) |
G407D |
probably damaging |
Het |
| E330034G19Rik |
T |
C |
14: 24,356,920 (GRCm39) |
L217S |
unknown |
Het |
| Eea1 |
A |
G |
10: 95,862,516 (GRCm39) |
K813E |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Etf1 |
T |
C |
18: 35,064,697 (GRCm39) |
D4G |
probably benign |
Het |
| F830045P16Rik |
T |
C |
2: 129,305,505 (GRCm39) |
T290A |
possibly damaging |
Het |
| Flad1 |
A |
T |
3: 89,316,442 (GRCm39) |
L40H |
probably damaging |
Het |
| Fpr3 |
C |
A |
17: 18,191,054 (GRCm39) |
N108K |
probably damaging |
Het |
| Galntl6 |
A |
G |
8: 58,415,407 (GRCm39) |
|
probably null |
Het |
| Hmgcll1 |
T |
C |
9: 75,922,421 (GRCm39) |
L22P |
probably benign |
Het |
| Iars2 |
C |
T |
1: 185,061,586 (GRCm39) |
|
probably benign |
Het |
| Ifna15 |
A |
T |
4: 88,475,938 (GRCm39) |
L182Q |
probably benign |
Het |
| Kcna6 |
A |
T |
6: 126,715,575 (GRCm39) |
V438E |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,381,032 (GRCm39) |
D1012V |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,066,660 (GRCm39) |
Q1074* |
probably null |
Het |
| Lhx9 |
T |
C |
1: 138,766,089 (GRCm39) |
Y242C |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,394,925 (GRCm39) |
I167F |
probably benign |
Het |
| Lrrc49 |
T |
A |
9: 60,522,331 (GRCm39) |
T351S |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,775,819 (GRCm39) |
|
probably null |
Het |
| Mlh1 |
C |
A |
9: 111,085,160 (GRCm39) |
|
probably null |
Het |
| Msh4 |
C |
T |
3: 153,583,545 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
G |
7: 49,237,525 (GRCm39) |
D1999G |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,145,945 (GRCm39) |
I1272K |
possibly damaging |
Het |
| Neurl1a |
A |
G |
19: 47,245,958 (GRCm39) |
D530G |
probably damaging |
Het |
| Nid2 |
T |
C |
14: 19,848,657 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,650 (GRCm39) |
L582Q |
probably damaging |
Het |
| Or1o4 |
A |
T |
17: 37,590,818 (GRCm39) |
Y164* |
probably null |
Het |
| Or4c121 |
A |
T |
2: 89,023,976 (GRCm39) |
I134N |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,363,197 (GRCm39) |
V141A |
possibly damaging |
Het |
| Or8k1 |
A |
T |
2: 86,048,010 (GRCm39) |
F15I |
probably damaging |
Het |
| Pde6c |
G |
T |
19: 38,150,414 (GRCm39) |
E520* |
probably null |
Het |
| Pdzk1 |
C |
T |
3: 96,757,556 (GRCm39) |
T4I |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rap1gap |
G |
T |
4: 137,455,597 (GRCm39) |
V667F |
probably benign |
Het |
| Recql |
A |
T |
6: 142,320,637 (GRCm39) |
I137N |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,960,881 (GRCm39) |
E19G |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,500,615 (GRCm39) |
|
probably null |
Het |
| Six1 |
A |
G |
12: 73,090,524 (GRCm39) |
S214P |
possibly damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,831,734 (GRCm39) |
D1121G |
probably damaging |
Het |
| Slc30a6 |
T |
A |
17: 74,719,693 (GRCm39) |
C218S |
possibly damaging |
Het |
| Spata31e1 |
T |
A |
13: 49,943,676 (GRCm39) |
M1L |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,704,959 (GRCm39) |
D1803G |
possibly damaging |
Het |
| Sult2a3 |
A |
T |
7: 13,816,635 (GRCm39) |
V181E |
possibly damaging |
Het |
| Ubc |
C |
T |
5: 125,466,982 (GRCm39) |
|
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,596,800 (GRCm39) |
N870S |
probably benign |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,709,492 (GRCm39) |
I1813T |
probably benign |
Het |
| Wdr11 |
C |
T |
7: 129,209,611 (GRCm39) |
P473L |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,333 (GRCm39) |
I114N |
probably benign |
Het |
| Zfp516 |
C |
A |
18: 83,005,295 (GRCm39) |
S733* |
probably null |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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'- ATAACTGGACTCACGCCTTC -3'
(R):5'- CCAATGTCATGTCGCAAAAGC -3'
Sequencing Primer
(F):5'- GACTCACGCCTTCCGCTG -3'
(R):5'- AAAAGTGCAGATCCTACTCTCGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation