Incidental Mutation 'R3871:Filip1l'
ID |
276582 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1l
|
Ensembl Gene |
ENSMUSG00000043336 |
Gene Name |
filamin A interacting protein 1-like |
Synonyms |
4631422O05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3871 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 57333649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 147
(K147N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099667]
[ENSMUST00000114371]
[ENSMUST00000159816]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099667
AA Change: K147N
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133252 Gene: ENSMUSG00000043336 AA Change: K147N
Domain | Start | End | E-Value | Type |
Pfam:CortBP2
|
55 |
201 |
2.6e-67 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114371
|
SMART Domains |
Protein: ENSMUSP00000110011 Gene: ENSMUSG00000022748
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
29 |
N/A |
INTRINSIC |
Pfam:CMS1
|
42 |
266 |
7.9e-35 |
PFAM |
Pfam:DEAD
|
127 |
234 |
4e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159816
AA Change: K147N
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: K147N
Domain | Start | End | E-Value | Type |
Pfam:CortBP2
|
61 |
246 |
1.8e-65 |
PFAM |
low complexity region
|
271 |
286 |
N/A |
INTRINSIC |
low complexity region
|
483 |
495 |
N/A |
INTRINSIC |
coiled coil region
|
609 |
780 |
N/A |
INTRINSIC |
low complexity region
|
827 |
840 |
N/A |
INTRINSIC |
low complexity region
|
1106 |
1117 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231282
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
T |
A |
19: 20,602,117 (GRCm39) |
Y225* |
probably null |
Het |
Bard1 |
T |
C |
1: 71,114,099 (GRCm39) |
K294R |
probably benign |
Het |
Bcap29 |
A |
T |
12: 31,667,080 (GRCm39) |
S194T |
probably benign |
Het |
Ccdc40 |
G |
A |
11: 119,155,107 (GRCm39) |
V1116M |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,060,867 (GRCm39) |
D92G |
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,674,463 (GRCm39) |
F197L |
probably benign |
Het |
Hrnr |
T |
A |
3: 93,239,181 (GRCm39) |
S3140T |
unknown |
Het |
Igfn1 |
G |
T |
1: 135,896,574 (GRCm39) |
H1331N |
probably benign |
Het |
Kalrn |
C |
T |
16: 34,024,226 (GRCm39) |
|
probably null |
Het |
Kmt2d |
TTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGC |
15: 98,748,902 (GRCm39) |
|
probably benign |
Het |
Mfng |
A |
G |
15: 78,640,821 (GRCm39) |
L308P |
probably damaging |
Het |
Nt5e |
C |
A |
9: 88,246,746 (GRCm39) |
N327K |
probably benign |
Het |
Or5m13 |
T |
G |
2: 85,748,926 (GRCm39) |
|
probably null |
Het |
Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
Phactr4 |
T |
C |
4: 132,104,560 (GRCm39) |
T256A |
probably benign |
Het |
Rab24 |
T |
C |
13: 55,468,992 (GRCm39) |
D63G |
probably damaging |
Het |
Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
Serpina3b |
A |
T |
12: 104,105,047 (GRCm39) |
I408F |
probably damaging |
Het |
Setx |
A |
G |
2: 29,035,753 (GRCm39) |
D746G |
probably damaging |
Het |
Sf3a2 |
A |
C |
10: 80,640,527 (GRCm39) |
|
probably benign |
Het |
Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
Snx9 |
C |
T |
17: 5,942,056 (GRCm39) |
P61L |
probably benign |
Het |
Sult2a6 |
T |
C |
7: 13,988,701 (GRCm39) |
K20E |
probably benign |
Het |
Tas2r122 |
A |
G |
6: 132,688,543 (GRCm39) |
S117P |
probably benign |
Het |
Tmem26 |
G |
A |
10: 68,614,562 (GRCm39) |
E326K |
probably benign |
Het |
Tnpo2 |
T |
A |
8: 85,781,380 (GRCm39) |
C789S |
probably null |
Het |
Togaram1 |
A |
C |
12: 65,049,419 (GRCm39) |
E1285D |
probably benign |
Het |
Ubxn7 |
T |
A |
16: 32,200,248 (GRCm39) |
S335T |
possibly damaging |
Het |
Unc119b |
G |
A |
5: 115,268,567 (GRCm39) |
T106M |
probably damaging |
Het |
Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
Usp32 |
T |
C |
11: 84,971,982 (GRCm39) |
D129G |
probably null |
Het |
|
Other mutations in Filip1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01294:Filip1l
|
APN |
16 |
57,392,711 (GRCm39) |
nonsense |
probably null |
|
IGL01393:Filip1l
|
APN |
16 |
57,392,586 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01886:Filip1l
|
APN |
16 |
57,391,613 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02336:Filip1l
|
APN |
16 |
57,392,096 (GRCm39) |
splice site |
probably null |
|
IGL02503:Filip1l
|
APN |
16 |
57,391,938 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02608:Filip1l
|
APN |
16 |
57,392,469 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02681:Filip1l
|
APN |
16 |
57,392,142 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02687:Filip1l
|
APN |
16 |
57,391,490 (GRCm39) |
missense |
probably benign |
0.30 |
IGL02982:Filip1l
|
APN |
16 |
57,392,595 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03062:Filip1l
|
APN |
16 |
57,327,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R1027:Filip1l
|
UTSW |
16 |
57,390,051 (GRCm39) |
missense |
probably benign |
|
R1347:Filip1l
|
UTSW |
16 |
57,391,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R1347:Filip1l
|
UTSW |
16 |
57,391,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R1384:Filip1l
|
UTSW |
16 |
57,391,652 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1655:Filip1l
|
UTSW |
16 |
57,392,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R1764:Filip1l
|
UTSW |
16 |
57,390,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R1809:Filip1l
|
UTSW |
16 |
57,327,023 (GRCm39) |
missense |
probably benign |
|
R1983:Filip1l
|
UTSW |
16 |
57,391,637 (GRCm39) |
missense |
probably damaging |
0.98 |
R2504:Filip1l
|
UTSW |
16 |
57,391,410 (GRCm39) |
missense |
probably damaging |
0.97 |
R2504:Filip1l
|
UTSW |
16 |
57,391,025 (GRCm39) |
missense |
possibly damaging |
0.76 |
R3117:Filip1l
|
UTSW |
16 |
57,327,095 (GRCm39) |
missense |
probably benign |
0.07 |
R3844:Filip1l
|
UTSW |
16 |
57,392,790 (GRCm39) |
missense |
probably benign |
0.15 |
R4231:Filip1l
|
UTSW |
16 |
57,327,131 (GRCm39) |
missense |
probably benign |
|
R4391:Filip1l
|
UTSW |
16 |
57,391,155 (GRCm39) |
nonsense |
probably null |
|
R4700:Filip1l
|
UTSW |
16 |
57,391,058 (GRCm39) |
missense |
probably benign |
0.00 |
R4999:Filip1l
|
UTSW |
16 |
57,390,778 (GRCm39) |
missense |
probably benign |
0.01 |
R5002:Filip1l
|
UTSW |
16 |
57,391,466 (GRCm39) |
missense |
probably benign |
0.01 |
R5123:Filip1l
|
UTSW |
16 |
57,391,025 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5294:Filip1l
|
UTSW |
16 |
57,390,399 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5429:Filip1l
|
UTSW |
16 |
57,390,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R5811:Filip1l
|
UTSW |
16 |
57,390,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R6220:Filip1l
|
UTSW |
16 |
57,390,352 (GRCm39) |
missense |
probably benign |
0.31 |
R6452:Filip1l
|
UTSW |
16 |
57,327,163 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6678:Filip1l
|
UTSW |
16 |
57,390,333 (GRCm39) |
missense |
probably benign |
0.00 |
R6700:Filip1l
|
UTSW |
16 |
57,391,611 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7260:Filip1l
|
UTSW |
16 |
57,391,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R7327:Filip1l
|
UTSW |
16 |
57,391,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R7578:Filip1l
|
UTSW |
16 |
57,333,645 (GRCm39) |
missense |
probably damaging |
0.99 |
R7691:Filip1l
|
UTSW |
16 |
57,392,796 (GRCm39) |
missense |
probably benign |
0.00 |
R7950:Filip1l
|
UTSW |
16 |
57,390,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R8288:Filip1l
|
UTSW |
16 |
57,390,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R8334:Filip1l
|
UTSW |
16 |
57,390,510 (GRCm39) |
missense |
probably benign |
0.18 |
R8392:Filip1l
|
UTSW |
16 |
57,391,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R8742:Filip1l
|
UTSW |
16 |
57,391,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R9020:Filip1l
|
UTSW |
16 |
57,391,058 (GRCm39) |
missense |
probably benign |
0.00 |
R9157:Filip1l
|
UTSW |
16 |
57,391,980 (GRCm39) |
missense |
probably benign |
0.04 |
RF019:Filip1l
|
UTSW |
16 |
57,391,004 (GRCm39) |
missense |
probably benign |
0.07 |
Z1088:Filip1l
|
UTSW |
16 |
57,333,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTTGCTATACCTTGCATCTAATC -3'
(R):5'- GTAACACTTTGCAGAAGGGGCC -3'
Sequencing Primer
(F):5'- GCACAGAAATATGTAAACGACT -3'
(R):5'- CAGAAGGGGCCATTGTTTCATCC -3'
|
Posted On |
2015-04-06 |