Incidental Mutation 'IGL01393:Filip1l'
ID |
79282 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01393
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57392586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 820
(N820S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114371]
[ENSMUST00000159414]
[ENSMUST00000159816]
[ENSMUST00000232413]
|
AlphaFold |
no structure available at present |
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: ENSMUST00000159414
AA Change: N820S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124069 Gene: ENSMUSG00000043336 AA Change: N820S
Domain | Start | End | E-Value | Type |
coiled coil region
|
4 |
345 |
N/A |
INTRINSIC |
coiled coil region
|
371 |
542 |
N/A |
INTRINSIC |
low complexity region
|
589 |
602 |
N/A |
INTRINSIC |
low complexity region
|
868 |
879 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159816
AA Change: N1058S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: N1058S
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232413
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930474N05Rik |
G |
A |
14: 35,818,379 (GRCm39) |
V126I |
possibly damaging |
Het |
A630073D07Rik |
G |
T |
6: 132,603,577 (GRCm39) |
Q60K |
unknown |
Het |
Alpk2 |
A |
G |
18: 65,440,779 (GRCm39) |
S205P |
possibly damaging |
Het |
Ang4 |
T |
A |
14: 52,001,670 (GRCm39) |
I93L |
probably benign |
Het |
Arpin |
A |
G |
7: 79,581,588 (GRCm39) |
V44A |
possibly damaging |
Het |
Atxn3 |
A |
T |
12: 101,899,306 (GRCm39) |
C263* |
probably null |
Het |
Cd209f |
T |
C |
8: 4,153,154 (GRCm39) |
N260S |
probably damaging |
Het |
Cdh20 |
A |
G |
1: 104,861,969 (GRCm39) |
R50G |
probably benign |
Het |
Cracd |
T |
C |
5: 77,006,818 (GRCm39) |
S1060P |
unknown |
Het |
Csmd3 |
C |
T |
15: 48,320,995 (GRCm39) |
V272I |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,206,706 (GRCm39) |
Y1136F |
possibly damaging |
Het |
Fam20c |
A |
G |
5: 138,793,026 (GRCm39) |
Y420C |
probably damaging |
Het |
Fancd2 |
T |
A |
6: 113,554,321 (GRCm39) |
|
probably benign |
Het |
Fat2 |
T |
C |
11: 55,160,135 (GRCm39) |
D3326G |
probably benign |
Het |
Gm26566 |
G |
A |
4: 88,640,581 (GRCm39) |
|
probably benign |
Het |
Gm4792 |
A |
G |
10: 94,134,304 (GRCm39) |
L22P |
unknown |
Het |
Gpat2 |
A |
G |
2: 127,274,571 (GRCm39) |
E386G |
probably damaging |
Het |
Grm3 |
T |
C |
5: 9,639,856 (GRCm39) |
D63G |
probably benign |
Het |
Hdc |
A |
G |
2: 126,436,581 (GRCm39) |
V430A |
probably benign |
Het |
Hnf4a |
T |
C |
2: 163,393,492 (GRCm39) |
|
probably benign |
Het |
Il2ra |
A |
G |
2: 11,687,865 (GRCm39) |
D215G |
probably damaging |
Het |
Kctd3 |
T |
C |
1: 188,732,487 (GRCm39) |
I74V |
probably benign |
Het |
Kctd5 |
A |
T |
17: 24,278,292 (GRCm39) |
|
probably null |
Het |
Lrsam1 |
A |
T |
2: 32,845,185 (GRCm39) |
|
probably benign |
Het |
Mblac1 |
A |
G |
5: 138,193,036 (GRCm39) |
N126S |
possibly damaging |
Het |
Mmrn1 |
T |
A |
6: 60,937,692 (GRCm39) |
|
probably benign |
Het |
Mpp3 |
A |
T |
11: 101,916,304 (GRCm39) |
L16Q |
probably damaging |
Het |
Mrgprb1 |
C |
A |
7: 48,097,754 (GRCm39) |
A53S |
possibly damaging |
Het |
Nbea |
C |
A |
3: 55,912,729 (GRCm39) |
M1019I |
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,103,599 (GRCm39) |
K22R |
probably null |
Het |
Or1j4 |
G |
A |
2: 36,740,553 (GRCm39) |
R165Q |
probably benign |
Het |
Or2ag18 |
C |
T |
7: 106,405,642 (GRCm39) |
G9E |
probably benign |
Het |
Or4k48 |
A |
G |
2: 111,475,601 (GRCm39) |
V247A |
probably damaging |
Het |
Pard6b |
T |
A |
2: 167,929,298 (GRCm39) |
S35T |
probably benign |
Het |
Peli1 |
T |
C |
11: 21,097,400 (GRCm39) |
V215A |
probably benign |
Het |
Pkp4 |
A |
T |
2: 59,178,269 (GRCm39) |
D1003V |
probably damaging |
Het |
Pot1a |
G |
A |
6: 25,744,630 (GRCm39) |
R625* |
probably null |
Het |
Ppp1r16a |
T |
C |
15: 76,578,744 (GRCm39) |
S483P |
probably benign |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Prrg3 |
T |
C |
X: 71,011,123 (GRCm39) |
V210A |
probably benign |
Het |
Rev1 |
A |
G |
1: 38,131,144 (GRCm39) |
V168A |
probably damaging |
Het |
Sez6l |
G |
T |
5: 112,586,261 (GRCm39) |
|
probably benign |
Het |
Spag17 |
A |
G |
3: 99,934,926 (GRCm39) |
T711A |
possibly damaging |
Het |
Spice1 |
A |
G |
16: 44,186,993 (GRCm39) |
I163M |
probably benign |
Het |
Tex13c1 |
C |
T |
X: 42,680,233 (GRCm39) |
A66V |
probably damaging |
Het |
Tmem132d |
A |
T |
5: 127,861,702 (GRCm39) |
S806R |
probably benign |
Het |
Tnc |
A |
G |
4: 63,932,291 (GRCm39) |
|
probably benign |
Het |
Tpbg |
T |
A |
9: 85,726,145 (GRCm39) |
V38E |
unknown |
Het |
Unc13c |
T |
A |
9: 73,447,552 (GRCm39) |
I1883F |
probably benign |
Het |
Vmn2r61 |
A |
C |
7: 41,916,258 (GRCm39) |
Q290H |
probably benign |
Het |
Vps39 |
A |
G |
2: 120,180,719 (GRCm39) |
|
probably benign |
Het |
Zfp369 |
T |
C |
13: 65,442,288 (GRCm39) |
V294A |
possibly damaging |
Het |
Zfp821 |
T |
A |
8: 110,436,110 (GRCm39) |
|
probably benign |
Het |
Zfp941 |
C |
T |
7: 140,391,841 (GRCm39) |
G506E |
probably damaging |
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 |
|
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 |
R3871:Filip1l
|
UTSW |
16 |
57,333,649 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
|
Posted On |
2013-11-05 |