Incidental Mutation 'IGL02608:Filip1l'
| ID |
300364 |
| 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 # |
IGL02608
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57392469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 781
(E781G)
|
| 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: E781G
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: E781G
| 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: E1019G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: E1019G
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
T |
A |
15: 102,247,627 (GRCm39) |
M415L |
probably benign |
Het |
| Akap6 |
T |
C |
12: 53,057,389 (GRCm39) |
S952P |
probably benign |
Het |
| Aldh3a1 |
A |
G |
11: 61,107,147 (GRCm39) |
R284G |
probably damaging |
Het |
| Aldh3b1 |
G |
T |
19: 3,964,061 (GRCm39) |
H414N |
probably damaging |
Het |
| Chd5 |
G |
A |
4: 152,440,564 (GRCm39) |
M141I |
possibly damaging |
Het |
| Cntn2 |
C |
T |
1: 132,453,654 (GRCm39) |
A340T |
possibly damaging |
Het |
| Daw1 |
T |
A |
1: 83,187,055 (GRCm39) |
C288* |
probably null |
Het |
| Dcn |
A |
G |
10: 97,319,319 (GRCm39) |
E32G |
probably damaging |
Het |
| Dock5 |
C |
T |
14: 68,065,888 (GRCm39) |
V372M |
probably benign |
Het |
| Etf1 |
T |
C |
18: 35,064,670 (GRCm39) |
E13G |
probably damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,635,113 (GRCm39) |
I386V |
probably damaging |
Het |
| Gvin-ps5 |
T |
A |
7: 105,928,876 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxb5 |
T |
A |
11: 96,195,969 (GRCm39) |
|
probably benign |
Het |
| Iqch |
T |
A |
9: 63,329,110 (GRCm39) |
|
probably benign |
Het |
| Itgal |
C |
T |
7: 126,909,416 (GRCm39) |
P423S |
probably damaging |
Het |
| Kti12 |
T |
G |
4: 108,705,359 (GRCm39) |
L91R |
probably damaging |
Het |
| Lgals3 |
T |
C |
14: 47,623,058 (GRCm39) |
M239T |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,146,311 (GRCm39) |
M375T |
possibly damaging |
Het |
| Ly75 |
T |
C |
2: 60,152,244 (GRCm39) |
E1103G |
probably benign |
Het |
| Lyst |
A |
T |
13: 13,887,339 (GRCm39) |
E3056V |
probably damaging |
Het |
| Map3k7 |
T |
C |
4: 31,981,452 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,264,040 (GRCm39) |
T180I |
probably benign |
Het |
| Nectin4 |
T |
C |
1: 171,212,341 (GRCm39) |
V313A |
probably benign |
Het |
| Nol4l |
A |
G |
2: 153,278,213 (GRCm39) |
S8P |
possibly damaging |
Het |
| Npas2 |
T |
A |
1: 39,384,527 (GRCm39) |
S607T |
probably benign |
Het |
| Nup155 |
T |
A |
15: 8,138,955 (GRCm39) |
M9K |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,394,003 (GRCm39) |
L422P |
probably damaging |
Het |
| Or14j3 |
T |
A |
17: 37,901,110 (GRCm39) |
I45F |
probably damaging |
Het |
| Papola |
G |
T |
12: 105,775,818 (GRCm39) |
G245C |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,467,747 (GRCm39) |
S223P |
probably damaging |
Het |
| Pdcd4 |
T |
C |
19: 53,915,638 (GRCm39) |
|
probably null |
Het |
| Pigg |
T |
C |
5: 108,460,869 (GRCm39) |
F27L |
probably damaging |
Het |
| Prpf40a |
A |
T |
2: 53,036,165 (GRCm39) |
M588K |
probably damaging |
Het |
| Psme4 |
A |
G |
11: 30,770,944 (GRCm39) |
N764S |
probably benign |
Het |
| Ptar1 |
A |
C |
19: 23,683,076 (GRCm39) |
E110A |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,937,818 (GRCm39) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,524,576 (GRCm39) |
T589A |
probably benign |
Het |
| Rpl21-ps4 |
G |
T |
14: 11,227,831 (GRCm38) |
|
noncoding transcript |
Het |
| Rpp38 |
T |
C |
2: 3,330,198 (GRCm39) |
T235A |
probably benign |
Het |
| Sbno2 |
A |
T |
10: 79,903,236 (GRCm39) |
|
probably null |
Het |
| Scn3a |
A |
T |
2: 65,354,510 (GRCm39) |
C337* |
probably null |
Het |
| Sec61a2 |
T |
C |
2: 5,879,073 (GRCm39) |
T312A |
probably benign |
Het |
| Snrpg |
C |
A |
6: 86,353,550 (GRCm39) |
D43E |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,639,822 (GRCm39) |
Q126L |
probably null |
Het |
| Taar6 |
A |
G |
10: 23,861,081 (GRCm39) |
V155A |
probably benign |
Het |
| Tet1 |
G |
A |
10: 62,715,388 (GRCm39) |
H136Y |
possibly damaging |
Het |
| Tet1 |
C |
A |
10: 62,674,866 (GRCm39) |
S1070I |
probably damaging |
Het |
| Tfcp2 |
T |
C |
15: 100,411,991 (GRCm39) |
T327A |
possibly damaging |
Het |
| Tnfrsf13c |
C |
T |
15: 82,107,364 (GRCm39) |
V144M |
probably damaging |
Het |
| Tnfrsf22 |
T |
A |
7: 143,198,533 (GRCm39) |
K61* |
probably null |
Het |
| Trhr |
T |
C |
15: 44,061,074 (GRCm39) |
V198A |
probably benign |
Het |
| Trp53inp2 |
A |
G |
2: 155,228,569 (GRCm39) |
R175G |
probably damaging |
Het |
| Try10 |
G |
A |
6: 41,332,421 (GRCm39) |
G26R |
probably damaging |
Het |
| Vmn1r205 |
A |
G |
13: 22,776,370 (GRCm39) |
V244A |
probably damaging |
Het |
| Wrnip1 |
T |
A |
13: 32,990,857 (GRCm39) |
L372H |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,215,261 (GRCm39) |
L149Q |
probably damaging |
Het |
| Zfp445 |
A |
G |
9: 122,690,940 (GRCm39) |
V85A |
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 |
|
|
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 |
|
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