Incidental Mutation 'R6452:Filip1l'
ID |
519440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1l
|
Ensembl Gene |
ENSMUSG00000043336 |
Gene Name |
filamin A interacting protein 1-like |
Synonyms |
4631422O05Rik |
MMRRC Submission |
044588-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6452 (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 A
at 57327163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 64
(D64E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099667]
[ENSMUST00000114371]
[ENSMUST00000159816]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099667
AA Change: D64E
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133252 Gene: ENSMUSG00000043336 AA Change: D64E
Domain | Start | End | E-Value | Type |
Pfam:CortBP2
|
55 |
201 |
2.6e-67 |
PFAM |
|
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: ENSMUST00000159816
AA Change: D64E
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: D64E
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
A |
G |
13: 119,624,651 (GRCm39) |
|
probably benign |
Het |
Alox12e |
A |
T |
11: 70,210,831 (GRCm39) |
V296E |
probably damaging |
Het |
Bmal2 |
G |
A |
6: 146,724,705 (GRCm39) |
E400K |
probably benign |
Het |
Ccdc171 |
A |
G |
4: 83,782,527 (GRCm39) |
D1273G |
probably damaging |
Het |
Cetn3 |
C |
T |
13: 81,932,797 (GRCm39) |
R19* |
probably null |
Het |
Chd6 |
G |
T |
2: 160,807,418 (GRCm39) |
P1932H |
possibly damaging |
Het |
Cimip1 |
C |
A |
2: 173,369,700 (GRCm39) |
F71L |
probably benign |
Het |
Cyp2d34 |
A |
T |
15: 82,500,290 (GRCm39) |
I483N |
probably benign |
Het |
Dglucy |
T |
C |
12: 100,801,468 (GRCm39) |
V71A |
possibly damaging |
Het |
Dhx35 |
A |
G |
2: 158,673,607 (GRCm39) |
E346G |
probably damaging |
Het |
Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fasn |
G |
T |
11: 120,706,237 (GRCm39) |
Q1036K |
probably damaging |
Het |
Fermt3 |
A |
T |
19: 6,992,105 (GRCm39) |
F92I |
probably benign |
Het |
Fnbp1l |
A |
G |
3: 122,338,198 (GRCm39) |
F491S |
probably damaging |
Het |
Fzd2 |
T |
G |
11: 102,495,811 (GRCm39) |
V85G |
probably damaging |
Het |
Gjd4 |
G |
A |
18: 9,280,457 (GRCm39) |
T207M |
possibly damaging |
Het |
Gm32742 |
T |
C |
9: 51,057,490 (GRCm39) |
E1096G |
probably damaging |
Het |
Itgb3 |
T |
A |
11: 104,524,290 (GRCm39) |
L142* |
probably null |
Het |
Kctd21 |
T |
A |
7: 96,996,869 (GRCm39) |
I114N |
probably benign |
Het |
Klra4 |
G |
T |
6: 130,042,329 (GRCm39) |
|
probably null |
Het |
Larp4b |
T |
C |
13: 9,197,503 (GRCm39) |
V240A |
probably damaging |
Het |
Lrriq4 |
T |
C |
3: 30,709,882 (GRCm39) |
S409P |
probably damaging |
Het |
Magel2 |
A |
G |
7: 62,030,132 (GRCm39) |
E1012G |
unknown |
Het |
Mmp24 |
A |
T |
2: 155,657,673 (GRCm39) |
D521V |
possibly damaging |
Het |
Mocos |
A |
G |
18: 24,828,998 (GRCm39) |
I768V |
probably benign |
Het |
Mprip |
A |
T |
11: 59,643,609 (GRCm39) |
E553V |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,183,275 (GRCm39) |
Y718F |
probably benign |
Het |
Myh8 |
A |
T |
11: 67,196,565 (GRCm39) |
I1762F |
possibly damaging |
Het |
Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
Neb |
A |
T |
2: 52,069,495 (GRCm39) |
D5775E |
probably benign |
Het |
Or10h5 |
T |
C |
17: 33,434,919 (GRCm39) |
N133S |
probably benign |
Het |
Or5p66 |
A |
G |
7: 107,886,100 (GRCm39) |
S78P |
probably damaging |
Het |
Pramel19 |
T |
C |
4: 101,798,640 (GRCm39) |
Y204H |
probably benign |
Het |
Prl8a2 |
T |
C |
13: 27,536,780 (GRCm39) |
I134T |
probably benign |
Het |
Qrich2 |
G |
A |
11: 116,346,714 (GRCm39) |
T1370I |
probably benign |
Het |
Rabgap1l |
A |
G |
1: 160,281,331 (GRCm39) |
L630P |
probably damaging |
Het |
Ranbp2 |
G |
T |
10: 58,313,979 (GRCm39) |
L1566F |
probably benign |
Het |
Rnf43 |
T |
A |
11: 87,623,079 (GRCm39) |
W727R |
probably damaging |
Het |
Rundc3b |
A |
T |
5: 8,629,175 (GRCm39) |
|
probably null |
Het |
Samm50 |
T |
G |
15: 84,088,298 (GRCm39) |
|
probably benign |
Het |
Sema4f |
G |
A |
6: 82,894,643 (GRCm39) |
A476V |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,376,839 (GRCm39) |
N1031S |
probably benign |
Het |
Slc4a9 |
A |
G |
18: 36,664,512 (GRCm39) |
Y390C |
probably damaging |
Het |
Slco6d1 |
C |
A |
1: 98,348,937 (GRCm39) |
Q3K |
probably benign |
Het |
Smim1 |
T |
C |
4: 154,108,071 (GRCm39) |
|
probably benign |
Het |
Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
Sppl2c |
A |
T |
11: 104,079,017 (GRCm39) |
T606S |
probably benign |
Het |
Tex15 |
A |
G |
8: 34,062,844 (GRCm39) |
D758G |
probably damaging |
Het |
Tigd5 |
A |
T |
15: 75,783,287 (GRCm39) |
R550* |
probably null |
Het |
Tlcd3a |
G |
T |
11: 76,097,972 (GRCm39) |
G60* |
probably null |
Het |
Tnrc18 |
A |
C |
5: 142,712,767 (GRCm39) |
L2594R |
probably damaging |
Het |
Vezf1 |
A |
G |
11: 87,972,496 (GRCm39) |
T468A |
possibly damaging |
Het |
Vmn1r210 |
T |
A |
13: 23,011,840 (GRCm39) |
I149F |
probably damaging |
Het |
Vmn2r96 |
A |
C |
17: 18,804,117 (GRCm39) |
T264P |
probably benign |
Het |
Zfp217 |
C |
G |
2: 169,961,214 (GRCm39) |
S371T |
probably benign |
Het |
Zfp442 |
G |
A |
2: 150,250,028 (GRCm39) |
H568Y |
probably damaging |
Het |
Zfp53 |
A |
C |
17: 21,729,875 (GRCm39) |
H636P |
probably damaging |
Het |
Zscan4d |
C |
T |
7: 10,895,999 (GRCm39) |
C457Y |
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 |
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 |
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'- AGAATGCGTTCCAGAAGCAG -3'
(R):5'- CAGGATGACAACCTCCTGTTAG -3'
Sequencing Primer
(F):5'- TGCGTTCCAGAAGCAGCAATG -3'
(R):5'- AGAATTCTGTTTGTGTAGTCAAGC -3'
|
Posted On |
2018-05-24 |