Incidental Mutation 'IGL01886:Filip1l'
| ID |
179142 |
| 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 # |
IGL01886
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57391613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 734
(I734V)
|
| 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 benign
Transcript: ENSMUST00000159414
AA Change: I496V
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: I496V
| 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 |
possibly damaging
Transcript: ENSMUST00000159816
AA Change: I734V
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: I734V
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1 |
C |
T |
12: 112,625,592 (GRCm39) |
V136M |
probably benign |
Het |
| Ankrd34c |
A |
T |
9: 89,612,318 (GRCm39) |
L8M |
possibly damaging |
Het |
| Anks6 |
C |
A |
4: 47,044,850 (GRCm39) |
W352L |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,027,613 (GRCm39) |
N768K |
probably damaging |
Het |
| Clec7a |
A |
T |
6: 129,440,140 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
G |
A |
5: 137,897,082 (GRCm39) |
P411S |
probably damaging |
Het |
| Elavl2 |
A |
G |
4: 91,152,330 (GRCm39) |
V129A |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,291,537 (GRCm39) |
S994T |
possibly damaging |
Het |
| Esco1 |
T |
A |
18: 10,595,262 (GRCm39) |
K8I |
probably damaging |
Het |
| Esr1 |
T |
A |
10: 4,806,861 (GRCm39) |
I259K |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Grin3a |
T |
A |
4: 49,702,814 (GRCm39) |
I891F |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,196,959 (GRCm39) |
T27A |
probably benign |
Het |
| Kdm1a |
A |
G |
4: 136,288,327 (GRCm39) |
|
probably null |
Het |
| Kifc5b |
T |
C |
17: 27,151,091 (GRCm39) |
V663A |
probably damaging |
Het |
| Lama1 |
T |
G |
17: 68,114,792 (GRCm39) |
S2314A |
probably benign |
Het |
| Lrrc69 |
C |
T |
4: 14,703,984 (GRCm39) |
V279I |
probably benign |
Het |
| Mast3 |
A |
T |
8: 71,234,783 (GRCm39) |
L774Q |
possibly damaging |
Het |
| Med27 |
C |
A |
2: 29,303,494 (GRCm39) |
P9Q |
probably damaging |
Het |
| Myo5a |
C |
A |
9: 75,076,372 (GRCm39) |
|
probably benign |
Het |
| Myoz1 |
T |
C |
14: 20,705,377 (GRCm39) |
K14E |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,073,857 (GRCm39) |
|
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,014,327 (GRCm39) |
T308A |
probably benign |
Het |
| Or1l4b |
A |
G |
2: 37,036,521 (GRCm39) |
Y99C |
probably damaging |
Het |
| Or8d2b |
G |
T |
9: 38,788,844 (GRCm39) |
C124F |
probably damaging |
Het |
| Orc1 |
T |
A |
4: 108,461,154 (GRCm39) |
|
probably null |
Het |
| Pnkp |
G |
A |
7: 44,511,631 (GRCm39) |
A76T |
probably damaging |
Het |
| Polr3h |
T |
C |
15: 81,801,591 (GRCm39) |
E95G |
probably damaging |
Het |
| Prpf40b |
T |
A |
15: 99,202,328 (GRCm39) |
M62K |
unknown |
Het |
| Prpf8 |
C |
A |
11: 75,386,570 (GRCm39) |
Q1075K |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,179,280 (GRCm38) |
K766E |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,169,612 (GRCm39) |
N778K |
probably damaging |
Het |
| Riok3 |
T |
A |
18: 12,272,442 (GRCm39) |
N204K |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,415,866 (GRCm39) |
K650E |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,860,411 (GRCm39) |
S758T |
probably damaging |
Het |
| Slu7 |
T |
G |
11: 43,330,087 (GRCm39) |
N171K |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Sult6b2 |
A |
G |
6: 142,735,852 (GRCm39) |
|
probably null |
Het |
| Taf6l |
C |
T |
19: 8,755,450 (GRCm39) |
|
probably null |
Het |
| Ubtfl1 |
G |
A |
9: 18,321,017 (GRCm39) |
V182M |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
2014-05-07 |
Incidental Mutation