Incidental Mutation 'IGL01294:Filip1l'
ID |
73011 |
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 # |
IGL01294
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 57392711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 1100
(K1100*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124179
(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 null
Transcript: ENSMUST00000159414
AA Change: K862*
|
SMART Domains |
Protein: ENSMUSP00000124069 Gene: ENSMUSG00000043336 AA Change: K862*
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 null
Transcript: ENSMUST00000159816
AA Change: K1100*
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: K1100*
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
T |
7: 127,836,291 (GRCm39) |
S101T |
probably benign |
Het |
Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
Arglu1 |
G |
T |
8: 8,733,739 (GRCm39) |
|
probably benign |
Het |
Cacna2d2 |
T |
G |
9: 107,391,280 (GRCm39) |
Y436D |
probably damaging |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cpne8 |
G |
A |
15: 90,385,648 (GRCm39) |
S460L |
probably damaging |
Het |
Crat |
G |
A |
2: 30,295,199 (GRCm39) |
A436V |
probably damaging |
Het |
Dmd |
T |
C |
X: 83,475,604 (GRCm39) |
|
probably null |
Het |
Emilin2 |
G |
T |
17: 71,581,589 (GRCm39) |
A379E |
probably benign |
Het |
Ercc2 |
A |
G |
7: 19,124,342 (GRCm39) |
I445V |
probably benign |
Het |
Evc2 |
T |
C |
5: 37,504,854 (GRCm39) |
|
probably null |
Het |
Gm4353 |
T |
A |
7: 115,683,077 (GRCm39) |
D168V |
possibly damaging |
Het |
Hsf4 |
G |
T |
8: 106,002,289 (GRCm39) |
*417L |
probably null |
Het |
Kmt2a |
A |
G |
9: 44,731,594 (GRCm39) |
|
probably benign |
Het |
Macroh2a1 |
A |
T |
13: 56,222,113 (GRCm39) |
V346E |
probably damaging |
Het |
Mpzl1 |
A |
G |
1: 165,421,177 (GRCm39) |
S261P |
probably damaging |
Het |
Mre11a |
T |
C |
9: 14,742,211 (GRCm39) |
S621P |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,232,926 (GRCm39) |
Y934C |
probably damaging |
Het |
Naip5 |
A |
G |
13: 100,353,588 (GRCm39) |
S1224P |
probably damaging |
Het |
Nwd1 |
A |
T |
8: 73,438,373 (GRCm39) |
N1474Y |
probably damaging |
Het |
Or2ag20 |
T |
C |
7: 106,464,970 (GRCm39) |
L261S |
probably damaging |
Het |
Ptbp2 |
A |
G |
3: 119,541,461 (GRCm39) |
V192A |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,090,657 (GRCm39) |
Y421C |
probably damaging |
Het |
Sfmbt2 |
T |
A |
2: 10,595,232 (GRCm39) |
|
probably benign |
Het |
Slc4a10 |
A |
C |
2: 62,083,653 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
T |
C |
14: 110,987,506 (GRCm39) |
M734V |
probably benign |
Het |
Tap1 |
T |
C |
17: 34,413,019 (GRCm39) |
|
probably null |
Het |
Tep1 |
A |
G |
14: 51,067,114 (GRCm39) |
|
probably benign |
Het |
Uba6 |
T |
A |
5: 86,297,907 (GRCm39) |
I256L |
possibly damaging |
Het |
Wnt3 |
A |
T |
11: 103,699,140 (GRCm39) |
H82L |
possibly damaging |
Het |
|
Other mutations in Filip1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2013-10-07 |