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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3871 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
57353093-57573126 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 57513286 bp (GRCm38)
|
| 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: 20,624,753 (GRCm38) |
Y225* |
probably null |
Het |
| Bard1 |
T |
C |
1: 71,074,940 (GRCm38) |
K294R |
probably benign |
Het |
| Bcap29 |
A |
T |
12: 31,617,081 (GRCm38) |
S194T |
probably benign |
Het |
| Ccdc40 |
G |
A |
11: 119,264,281 (GRCm38) |
V1116M |
probably damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,060,249 (GRCm38) |
E170G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,805,551 (GRCm38) |
G102D |
possibly damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,072,423 (GRCm38) |
D92G |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,469,465 (GRCm38) |
F197L |
probably benign |
Het |
| Hrnr |
T |
A |
3: 93,331,874 (GRCm38) |
S3140T |
unknown |
Het |
| Igfn1 |
G |
T |
1: 135,968,836 (GRCm38) |
H1331N |
probably benign |
Het |
| Kalrn |
C |
T |
16: 34,203,856 (GRCm38) |
|
probably null |
Het |
| Kmt2d |
TTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGC |
15: 98,851,021 (GRCm38) |
|
probably benign |
Het |
| Mfng |
A |
G |
15: 78,756,621 (GRCm38) |
L308P |
probably damaging |
Het |
| Nt5e |
C |
A |
9: 88,364,693 (GRCm38) |
N327K |
probably benign |
Het |
| Olfr1025-ps1 |
T |
G |
2: 85,918,582 (GRCm38) |
|
probably null |
Het |
| Pgbd1 |
C |
T |
13: 21,434,370 (GRCm38) |
R39H |
possibly damaging |
Het |
| Phactr4 |
T |
C |
4: 132,377,249 (GRCm38) |
T256A |
probably benign |
Het |
| Rab24 |
T |
C |
13: 55,321,179 (GRCm38) |
D63G |
probably damaging |
Het |
| Rubcnl |
C |
T |
14: 75,040,916 (GRCm38) |
P380L |
probably benign |
Het |
| Satb2 |
A |
G |
1: 56,891,220 (GRCm38) |
S215P |
probably damaging |
Het |
| Serpina3b |
A |
T |
12: 104,138,788 (GRCm38) |
I408F |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,145,741 (GRCm38) |
D746G |
probably damaging |
Het |
| Sf3a2 |
A |
C |
10: 80,804,693 (GRCm38) |
|
probably benign |
Het |
| Snx33 |
T |
C |
9: 56,926,740 (GRCm38) |
N15S |
probably benign |
Het |
| Snx9 |
C |
T |
17: 5,891,781 (GRCm38) |
P61L |
probably benign |
Het |
| Sult2a6 |
T |
C |
7: 14,254,776 (GRCm38) |
K20E |
probably benign |
Het |
| Tas2r122 |
A |
G |
6: 132,711,580 (GRCm38) |
S117P |
probably benign |
Het |
| Tmem26 |
G |
A |
10: 68,778,732 (GRCm38) |
E326K |
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,054,751 (GRCm38) |
C789S |
probably null |
Het |
| Togaram1 |
A |
C |
12: 65,002,645 (GRCm38) |
E1285D |
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,381,430 (GRCm38) |
S335T |
possibly damaging |
Het |
| Unc119b |
G |
A |
5: 115,130,508 (GRCm38) |
T106M |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 10,002,370 (GRCm38) |
S314P |
possibly damaging |
Het |
| Usp32 |
T |
C |
11: 85,081,156 (GRCm38) |
D129G |
probably null |
Het |
|
| Other mutations in Filip1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:Filip1l
|
APN |
16 |
57,572,348 (GRCm38) |
nonsense |
probably null |
|
|
IGL01393:Filip1l
|
APN |
16 |
57,572,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01886:Filip1l
|
APN |
16 |
57,571,250 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
IGL02336:Filip1l
|
APN |
16 |
57,571,733 (GRCm38) |
splice site |
probably null |
|
|
IGL02503:Filip1l
|
APN |
16 |
57,571,575 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02608:Filip1l
|
APN |
16 |
57,572,106 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02681:Filip1l
|
APN |
16 |
57,571,779 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02687:Filip1l
|
APN |
16 |
57,571,127 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL02982:Filip1l
|
APN |
16 |
57,572,232 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03062:Filip1l
|
APN |
16 |
57,506,804 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1027:Filip1l
|
UTSW |
16 |
57,569,688 (GRCm38) |
missense |
probably benign |
|
|
R1347:Filip1l
|
UTSW |
16 |
57,570,987 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1347:Filip1l
|
UTSW |
16 |
57,570,987 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1384:Filip1l
|
UTSW |
16 |
57,571,289 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R1655:Filip1l
|
UTSW |
16 |
57,571,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1764:Filip1l
|
UTSW |
16 |
57,570,038 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1809:Filip1l
|
UTSW |
16 |
57,506,660 (GRCm38) |
missense |
probably benign |
|
|
R1983:Filip1l
|
UTSW |
16 |
57,571,274 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2504:Filip1l
|
UTSW |
16 |
57,571,047 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2504:Filip1l
|
UTSW |
16 |
57,570,662 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R3117:Filip1l
|
UTSW |
16 |
57,506,732 (GRCm38) |
missense |
probably benign |
0.07 |
|
R3844:Filip1l
|
UTSW |
16 |
57,572,427 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4231:Filip1l
|
UTSW |
16 |
57,506,768 (GRCm38) |
missense |
probably benign |
|
|
R4391:Filip1l
|
UTSW |
16 |
57,570,792 (GRCm38) |
nonsense |
probably null |
|
|
R4700:Filip1l
|
UTSW |
16 |
57,570,695 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4999:Filip1l
|
UTSW |
16 |
57,570,415 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5002:Filip1l
|
UTSW |
16 |
57,571,103 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5123:Filip1l
|
UTSW |
16 |
57,570,662 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5294:Filip1l
|
UTSW |
16 |
57,570,036 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R5429:Filip1l
|
UTSW |
16 |
57,570,255 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5811:Filip1l
|
UTSW |
16 |
57,570,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6220:Filip1l
|
UTSW |
16 |
57,569,989 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6452:Filip1l
|
UTSW |
16 |
57,506,800 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6678:Filip1l
|
UTSW |
16 |
57,569,970 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6700:Filip1l
|
UTSW |
16 |
57,571,248 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7260:Filip1l
|
UTSW |
16 |
57,570,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7327:Filip1l
|
UTSW |
16 |
57,570,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7578:Filip1l
|
UTSW |
16 |
57,513,282 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7691:Filip1l
|
UTSW |
16 |
57,572,433 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7950:Filip1l
|
UTSW |
16 |
57,569,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8288:Filip1l
|
UTSW |
16 |
57,570,554 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8334:Filip1l
|
UTSW |
16 |
57,570,147 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8392:Filip1l
|
UTSW |
16 |
57,571,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8742:Filip1l
|
UTSW |
16 |
57,571,230 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9020:Filip1l
|
UTSW |
16 |
57,570,695 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9157:Filip1l
|
UTSW |
16 |
57,571,617 (GRCm38) |
missense |
probably benign |
0.04 |
|
RF019:Filip1l
|
UTSW |
16 |
57,570,641 (GRCm38) |
missense |
probably benign |
0.07 |
|
Z1088:Filip1l
|
UTSW |
16 |
57,513,405 (GRCm38) |
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 |
Incidental Mutation