Incidental Mutation 'IGL02503:Filip1l'
| ID |
296168 |
| 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 # |
IGL02503
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57391938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 604
(V604E)
|
| 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 benign
Transcript: ENSMUST00000159414
AA Change: V604E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: V604E
| 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 benign
Transcript: ENSMUST00000159816
AA Change: V842E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: V842E
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,008,962 (GRCm39) |
W822R |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,390,598 (GRCm39) |
Y807* |
probably null |
Het |
| Alkbh8 |
G |
A |
9: 3,347,852 (GRCm39) |
G215D |
probably damaging |
Het |
| Cfap57 |
C |
T |
4: 118,426,545 (GRCm39) |
|
probably null |
Het |
| Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,940 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,909,621 (GRCm39) |
Y1411* |
probably null |
Het |
| Dmrtc1b |
T |
A |
X: 101,758,366 (GRCm39) |
S199T |
possibly damaging |
Het |
| Elk4 |
A |
G |
1: 131,942,277 (GRCm39) |
N50D |
probably damaging |
Het |
| Fmo3 |
A |
T |
1: 162,796,433 (GRCm39) |
H46Q |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,990,348 (GRCm39) |
Y1116F |
unknown |
Het |
| Fpr-rs3 |
T |
A |
17: 20,844,817 (GRCm39) |
N108I |
probably damaging |
Het |
| Glmn |
A |
T |
5: 107,710,644 (GRCm39) |
M316K |
probably damaging |
Het |
| Gm5591 |
C |
A |
7: 38,219,433 (GRCm39) |
R480I |
probably damaging |
Het |
| Gm8122 |
G |
T |
14: 43,092,645 (GRCm39) |
R39S |
unknown |
Het |
| Gprasp1 |
T |
A |
X: 134,703,279 (GRCm39) |
Y1157* |
probably null |
Het |
| H2bc21 |
A |
G |
3: 96,128,539 (GRCm39) |
T20A |
probably benign |
Het |
| Hsf1 |
T |
C |
15: 76,382,870 (GRCm39) |
L370P |
probably benign |
Het |
| Iqsec1 |
T |
A |
6: 90,645,770 (GRCm39) |
I809F |
probably damaging |
Het |
| Itsn1 |
G |
T |
16: 91,686,092 (GRCm39) |
M54I |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,057 (GRCm39) |
N184S |
probably benign |
Het |
| Lifr |
T |
A |
15: 7,215,104 (GRCm39) |
V737E |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,033,767 (GRCm39) |
T1037A |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,727,454 (GRCm39) |
I439F |
possibly damaging |
Het |
| Megf8 |
T |
C |
7: 25,062,988 (GRCm39) |
V2448A |
possibly damaging |
Het |
| Mthfd1l |
T |
A |
10: 4,033,824 (GRCm39) |
V737D |
probably damaging |
Het |
| Mtm1 |
A |
G |
X: 70,343,276 (GRCm39) |
T386A |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,421,404 (GRCm39) |
V4298A |
probably benign |
Het |
| Or10ag2 |
T |
G |
2: 87,248,636 (GRCm39) |
F81L |
probably benign |
Het |
| Or5w18 |
A |
T |
2: 87,632,864 (GRCm39) |
I44F |
probably benign |
Het |
| Or8k21 |
C |
T |
2: 86,144,983 (GRCm39) |
G216R |
possibly damaging |
Het |
| Plch1 |
A |
G |
3: 63,605,285 (GRCm39) |
S1531P |
probably damaging |
Het |
| Poc1b |
T |
A |
10: 98,980,210 (GRCm39) |
|
probably benign |
Het |
| Rictor |
T |
A |
15: 6,815,924 (GRCm39) |
N1065K |
probably benign |
Het |
| Rpsa |
A |
G |
9: 119,957,659 (GRCm39) |
E35G |
possibly damaging |
Het |
| Scfd1 |
T |
A |
12: 51,469,704 (GRCm39) |
D416E |
possibly damaging |
Het |
| Sdad1 |
A |
T |
5: 92,449,661 (GRCm39) |
|
probably benign |
Het |
| Skor1 |
A |
G |
9: 63,053,397 (GRCm39) |
S191P |
probably damaging |
Het |
| Slc28a2 |
T |
C |
2: 122,288,693 (GRCm39) |
F600L |
probably benign |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,250 (GRCm39) |
|
noncoding transcript |
Het |
| Top2b |
A |
G |
14: 16,407,163 (GRCm38) |
M678V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,107 (GRCm39) |
N8092S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,572,033 (GRCm39) |
V26287I |
probably damaging |
Het |
| Tulp4 |
T |
A |
17: 6,263,666 (GRCm39) |
I345N |
probably damaging |
Het |
| U2surp |
C |
T |
9: 95,384,622 (GRCm39) |
V21I |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,018,564 (GRCm39) |
T859A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,018,558 (GRCm39) |
K861E |
probably damaging |
Het |
| Unc13d |
A |
G |
11: 115,959,628 (GRCm39) |
V617A |
possibly damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,151,341 (GRCm39) |
Y91C |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,816,385 (GRCm39) |
I657F |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,302,418 (GRCm39) |
R931G |
unknown |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation