Incidental Mutation 'R6700:Filip1l'
ID |
528241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1l
|
Ensembl Gene |
ENSMUSG00000043336 |
Gene Name |
filamin A interacting protein 1-like |
Synonyms |
4631422O05Rik |
MMRRC Submission |
044818-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6700 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57391611 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 495
(L495P)
|
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 |
possibly damaging
Transcript: ENSMUST00000159414
AA Change: L495P
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124069 Gene: ENSMUSG00000043336 AA Change: L495P
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: L733P
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: L733P
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
|
Meta Mutation Damage Score |
0.0858 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,881,140 (GRCm39) |
E504G |
unknown |
Het |
Aak1 |
G |
A |
6: 86,941,185 (GRCm39) |
E660K |
unknown |
Het |
Abcc9 |
A |
G |
6: 142,633,013 (GRCm39) |
I243T |
possibly damaging |
Het |
Baiap3 |
A |
G |
17: 25,463,000 (GRCm39) |
S1013P |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,162,036 (GRCm39) |
D2295E |
probably benign |
Het |
Blm |
A |
G |
7: 80,113,598 (GRCm39) |
V1233A |
possibly damaging |
Het |
Brsk1 |
G |
T |
7: 4,695,700 (GRCm39) |
V62F |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,570,458 (GRCm39) |
E1011G |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,474,191 (GRCm39) |
Y687C |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,883,421 (GRCm39) |
E250G |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Cps1 |
G |
T |
1: 67,268,682 (GRCm39) |
|
probably null |
Het |
Cyp4v3 |
A |
G |
8: 45,760,130 (GRCm39) |
V34A |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,846,192 (GRCm39) |
V2949M |
probably damaging |
Het |
Dst |
A |
C |
1: 34,295,404 (GRCm39) |
Q3454P |
probably damaging |
Het |
Flnb |
C |
A |
14: 7,892,189 (GRCm38) |
H619Q |
probably damaging |
Het |
Fst |
G |
C |
13: 114,595,043 (GRCm39) |
A27G |
probably benign |
Het |
Ggnbp2 |
C |
A |
11: 84,730,931 (GRCm39) |
R364L |
probably damaging |
Het |
Gins1 |
C |
T |
2: 150,758,148 (GRCm39) |
A78V |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
Golgb1 |
C |
T |
16: 36,695,946 (GRCm39) |
|
probably benign |
Het |
Lin7a |
A |
G |
10: 107,216,167 (GRCm39) |
|
probably null |
Het |
Lrp6 |
A |
T |
6: 134,456,523 (GRCm39) |
C914S |
probably damaging |
Het |
Lrrc8e |
G |
A |
8: 4,286,034 (GRCm39) |
G753D |
probably damaging |
Het |
Mapk4 |
A |
G |
18: 74,063,882 (GRCm39) |
Y447H |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,511 (GRCm39) |
N133S |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nbea |
T |
C |
3: 55,989,869 (GRCm39) |
N329S |
possibly damaging |
Het |
Or13p10 |
A |
T |
4: 118,523,609 (GRCm39) |
K298N |
probably benign |
Het |
Or51k2 |
G |
A |
7: 103,596,531 (GRCm39) |
V253M |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,480,177 (GRCm39) |
I157F |
probably damaging |
Het |
Or6k14 |
G |
A |
1: 173,927,405 (GRCm39) |
C127Y |
probably damaging |
Het |
Pik3c3 |
A |
G |
18: 30,449,954 (GRCm39) |
E589G |
probably benign |
Het |
Plb1 |
A |
T |
5: 32,490,808 (GRCm39) |
D1035V |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,907,373 (GRCm39) |
M763I |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,531,003 (GRCm39) |
N67S |
probably benign |
Het |
Psmd13 |
T |
A |
7: 140,470,522 (GRCm39) |
W255R |
probably damaging |
Het |
Rbm27 |
A |
G |
18: 42,459,004 (GRCm39) |
Y735C |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,075,594 (GRCm39) |
N257I |
possibly damaging |
Het |
Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,420,119 (GRCm39) |
T331M |
probably damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
Slc9a9 |
T |
C |
9: 94,818,364 (GRCm39) |
S253P |
possibly damaging |
Het |
St8sia3 |
C |
T |
18: 64,398,452 (GRCm39) |
|
probably benign |
Het |
Strbp |
T |
C |
2: 37,493,975 (GRCm39) |
D366G |
probably null |
Het |
Tbx5 |
A |
G |
5: 120,009,462 (GRCm39) |
T324A |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,064,917 (GRCm39) |
I1449N |
possibly damaging |
Het |
Tmtc3 |
C |
T |
10: 100,307,339 (GRCm39) |
V222I |
probably benign |
Het |
Top3b |
T |
C |
16: 16,710,533 (GRCm39) |
S788P |
possibly damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,756,785 (GRCm39) |
D71G |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,020,329 (GRCm39) |
V434E |
probably benign |
Het |
Ufsp1 |
A |
G |
5: 137,293,158 (GRCm39) |
Y36C |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,091,962 (GRCm39) |
H1956Q |
possibly damaging |
Het |
Usp34 |
A |
T |
11: 23,389,011 (GRCm39) |
N2217I |
probably damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,822,462 (GRCm39) |
D380V |
possibly damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,322,938 (GRCm39) |
I117T |
probably benign |
Het |
Vmn2r53 |
A |
G |
7: 12,315,633 (GRCm39) |
Y729H |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,140,587 (GRCm39) |
L310M |
probably damaging |
Het |
Zc3h7a |
T |
C |
16: 10,976,831 (GRCm39) |
Q155R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCCAAGATGGAGCTTGCC -3'
(R):5'- TAGTCTGGTGGCTCACTGTC -3'
Sequencing Primer
(F):5'- GCTTGCCAAGTACAAGTTGG -3'
(R):5'- AATACTTGCGGGTCAGAGATTC -3'
|
Posted On |
2018-07-24 |