Incidental Mutation 'R1384:Filip1l'
ID |
163189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1l
|
Ensembl Gene |
ENSMUSG00000043336 |
Gene Name |
filamin A interacting protein 1-like |
Synonyms |
4631422O05Rik |
MMRRC Submission |
039446-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1384 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57391652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 509
(K509E)
|
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: K509E
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000124069 Gene: ENSMUSG00000043336 AA Change: K509E
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: K747E
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: K747E
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 |
0.1614 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.1%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930408O17Rik |
G |
A |
12: 104,837,451 (GRCm39) |
|
noncoding transcript |
Het |
A930033H14Rik |
A |
G |
10: 69,048,191 (GRCm39) |
|
probably benign |
Het |
Abcf3 |
G |
A |
16: 20,378,053 (GRCm39) |
G522R |
probably damaging |
Het |
Abi3bp |
A |
G |
16: 56,394,862 (GRCm39) |
Y190C |
probably damaging |
Het |
Alg10b |
A |
G |
15: 90,111,785 (GRCm39) |
K210E |
possibly damaging |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
C9 |
G |
A |
15: 6,488,415 (GRCm39) |
V90I |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,022,709 (GRCm39) |
I634V |
probably benign |
Het |
Catip |
A |
G |
1: 74,403,522 (GRCm39) |
D153G |
probably benign |
Het |
Cpt1c |
G |
A |
7: 44,610,348 (GRCm39) |
|
probably benign |
Het |
Cyp2c23 |
A |
G |
19: 44,002,102 (GRCm39) |
S296P |
probably damaging |
Het |
Cyp2d41-ps |
G |
A |
15: 82,663,718 (GRCm39) |
|
noncoding transcript |
Het |
Edc4 |
T |
A |
8: 106,619,014 (GRCm39) |
I1327N |
probably damaging |
Het |
Fbxl18 |
G |
A |
5: 142,871,978 (GRCm39) |
A419V |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,394,719 (GRCm39) |
E96G |
probably damaging |
Het |
Grid2ip |
T |
G |
5: 143,371,851 (GRCm39) |
|
probably null |
Het |
Gucy1a2 |
A |
C |
9: 3,759,620 (GRCm39) |
E475D |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,666,090 (GRCm39) |
|
probably benign |
Het |
Ica1 |
G |
A |
6: 8,742,262 (GRCm39) |
Q124* |
probably null |
Het |
Igsf3 |
T |
C |
3: 101,358,612 (GRCm39) |
|
probably null |
Het |
Matn2 |
A |
G |
15: 34,409,956 (GRCm39) |
E462G |
probably benign |
Het |
Men1 |
T |
C |
19: 6,389,921 (GRCm39) |
S464P |
probably benign |
Het |
Mrgpra2b |
T |
A |
7: 47,113,742 (GRCm39) |
E330V |
probably damaging |
Het |
Myoz2 |
A |
T |
3: 122,819,765 (GRCm39) |
S65T |
probably damaging |
Het |
Nckap1 |
A |
G |
2: 80,364,014 (GRCm39) |
M492T |
possibly damaging |
Het |
Nhsl1 |
A |
T |
10: 18,284,261 (GRCm39) |
K67N |
probably null |
Het |
Nostrin |
A |
G |
2: 69,019,406 (GRCm39) |
R484G |
probably benign |
Het |
Or8g22 |
T |
A |
9: 38,958,200 (GRCm39) |
I172F |
possibly damaging |
Het |
Otog |
T |
A |
7: 45,923,119 (GRCm39) |
|
probably benign |
Het |
P2rx5 |
A |
G |
11: 73,058,716 (GRCm39) |
Y300C |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,510,913 (GRCm39) |
F232L |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,115,401 (GRCm39) |
|
probably benign |
Het |
Pld3 |
A |
G |
7: 27,237,082 (GRCm39) |
S266P |
probably benign |
Het |
Pole |
G |
A |
5: 110,471,530 (GRCm39) |
V1425M |
possibly damaging |
Het |
Prss43 |
A |
G |
9: 110,656,510 (GRCm39) |
I66V |
probably benign |
Het |
Rtn4 |
A |
T |
11: 29,686,437 (GRCm39) |
N264I |
probably damaging |
Het |
Slc45a2 |
A |
G |
15: 11,025,832 (GRCm39) |
Y394C |
probably benign |
Het |
Speer4f2 |
A |
T |
5: 17,579,447 (GRCm39) |
N82I |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,534,155 (GRCm39) |
S160G |
probably benign |
Het |
Tbx2 |
A |
G |
11: 85,724,318 (GRCm39) |
K129R |
probably benign |
Het |
Tfr2 |
T |
C |
5: 137,585,082 (GRCm39) |
|
probably benign |
Het |
Thap12 |
T |
C |
7: 98,352,645 (GRCm39) |
S17P |
probably damaging |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tspear |
T |
C |
10: 77,702,166 (GRCm39) |
F200L |
probably benign |
Het |
Tspyl5 |
T |
A |
15: 33,687,526 (GRCm39) |
R140W |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,606,002 (GRCm39) |
D18236G |
probably damaging |
Het |
Upf2 |
G |
A |
2: 5,965,800 (GRCm39) |
R140Q |
unknown |
Het |
Vps4a |
T |
A |
8: 107,763,276 (GRCm39) |
I10N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATGCCAAGATGGAGCTTGCC -3'
(R):5'- TGCATCTGAAGGACAGCACAGAC -3'
Sequencing Primer
(F):5'- GAGCTTGCCAAGTACAAGTTG -3'
(R):5'- ACTGCTCTTTCCAGAGGAATGAG -3'
|
Posted On |
2014-03-17 |