Incidental Mutation 'R8288:Filip1l'
ID |
638546 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1l
|
Ensembl Gene |
ENSMUSG00000043336 |
Gene Name |
filamin A interacting protein 1-like |
Synonyms |
4631422O05Rik |
MMRRC Submission |
067710-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8288 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 57390917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 502
(R502C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114371]
[ENSMUST00000159414]
[ENSMUST00000159816]
|
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: R264C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124069 Gene: ENSMUSG00000043336 AA Change: R264C
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: R502C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: R502C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3m2 |
C |
T |
8: 23,283,153 (GRCm39) |
A200T |
probably benign |
Het |
Arpp19 |
T |
C |
9: 74,944,914 (GRCm39) |
M1T |
probably null |
Het |
Baiap2 |
T |
A |
11: 119,888,465 (GRCm39) |
V407E |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,446,073 (GRCm39) |
T508A |
probably damaging |
Het |
Cnnm3 |
C |
A |
1: 36,551,074 (GRCm39) |
A28E |
possibly damaging |
Het |
Cpb1 |
A |
T |
3: 20,319,531 (GRCm39) |
C184* |
probably null |
Het |
Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
Disp2 |
T |
C |
2: 118,620,762 (GRCm39) |
V498A |
probably damaging |
Het |
Dmgdh |
T |
C |
13: 93,845,332 (GRCm39) |
Y442H |
probably damaging |
Het |
Dync2i1 |
A |
G |
12: 116,177,345 (GRCm39) |
F811S |
probably damaging |
Het |
Eef2k |
T |
A |
7: 120,502,604 (GRCm39) |
M722K |
probably damaging |
Het |
Erbb4 |
A |
G |
1: 68,337,509 (GRCm39) |
F603S |
probably damaging |
Het |
Gbp9 |
C |
T |
5: 105,253,599 (GRCm39) |
V39M |
probably damaging |
Het |
Gm17079 |
T |
C |
14: 51,931,815 (GRCm39) |
Y98C |
|
Het |
Gstz1 |
A |
G |
12: 87,194,604 (GRCm39) |
M1V |
probably null |
Het |
Hsd17b13 |
T |
G |
5: 104,111,701 (GRCm39) |
I281L |
probably benign |
Het |
Hydin |
A |
G |
8: 111,233,661 (GRCm39) |
E1833G |
probably damaging |
Het |
Irs1 |
G |
A |
1: 82,265,682 (GRCm39) |
Q845* |
probably null |
Het |
Kctd11 |
C |
T |
11: 69,770,883 (GRCm39) |
G52R |
probably damaging |
Het |
Kit |
T |
C |
5: 75,815,149 (GRCm39) |
S962P |
probably damaging |
Het |
Lrrn1 |
C |
T |
6: 107,543,955 (GRCm39) |
|
probably benign |
Het |
Mastl |
T |
C |
2: 23,023,371 (GRCm39) |
K451E |
probably damaging |
Het |
Mptx2 |
A |
G |
1: 173,102,356 (GRCm39) |
V111A |
probably benign |
Het |
Nuak2 |
G |
T |
1: 132,255,579 (GRCm39) |
C178F |
probably damaging |
Het |
Pah |
G |
A |
10: 87,374,047 (GRCm39) |
R71H |
probably benign |
Het |
Pclo |
C |
A |
5: 14,762,885 (GRCm39) |
T501K |
|
Het |
Pla2g4e |
C |
T |
2: 120,018,990 (GRCm39) |
|
probably null |
Het |
Polq |
A |
G |
16: 36,848,272 (GRCm39) |
E293G |
probably damaging |
Het |
Rptor |
G |
A |
11: 119,748,763 (GRCm39) |
E782K |
probably benign |
Het |
Scn7a |
T |
A |
2: 66,506,318 (GRCm39) |
R1524W |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,203,237 (GRCm39) |
S46P |
probably benign |
Het |
Srcap |
T |
A |
7: 127,130,528 (GRCm39) |
I664N |
probably damaging |
Het |
Stk24 |
A |
C |
14: 121,530,841 (GRCm39) |
F372V |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,246,973 (GRCm39) |
S881G |
probably damaging |
Het |
Trim40 |
T |
C |
17: 37,194,210 (GRCm39) |
D161G |
probably benign |
Het |
Trip11 |
T |
C |
12: 101,860,643 (GRCm39) |
H234R |
possibly damaging |
Het |
Trpc1 |
T |
C |
9: 95,603,434 (GRCm39) |
K366R |
probably damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,149,316 (GRCm39) |
L189P |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,512,509 (GRCm39) |
S140G |
probably benign |
Het |
Zfp446 |
A |
G |
7: 12,711,885 (GRCm39) |
E36G |
probably benign |
Het |
Zfp738 |
T |
A |
13: 67,818,908 (GRCm39) |
H361L |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAAGAATGCTACTCTCTGAAATGC -3'
(R):5'- ATTGCTTCCAGTGACTGAAGC -3'
Sequencing Primer
(F):5'- TGCTACTCTCTGAAATGCAATTTAG -3'
(R):5'- TGACAAGAGATCATGTCCTTTCTC -3'
|
Posted On |
2020-07-28 |