Incidental Mutation 'R7950:Filip1l'
ID |
649523 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1l
|
Ensembl Gene |
ENSMUSG00000043336 |
Gene Name |
filamin A interacting protein 1-like |
Synonyms |
4631422O05Rik |
MMRRC Submission |
045995-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7950 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57390074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 221
(K221E)
|
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
|
SMART Domains |
Protein: ENSMUSP00000124069 Gene: ENSMUSG00000043336
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: K221E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: K221E
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 |
probably benign
Transcript: ENSMUST00000232413
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
G |
A |
17: 43,762,048 (GRCm39) |
V1248M |
probably damaging |
Het |
Alb |
T |
C |
5: 90,620,323 (GRCm39) |
S478P |
probably damaging |
Het |
Arhgap17 |
A |
G |
7: 122,886,039 (GRCm39) |
S698P |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,859 (GRCm39) |
T537A |
possibly damaging |
Het |
Arl6 |
A |
T |
16: 59,439,094 (GRCm39) |
|
probably null |
Het |
Atp13a4 |
A |
T |
16: 29,268,735 (GRCm39) |
W540R |
|
Het |
Birc6 |
A |
T |
17: 74,900,095 (GRCm39) |
D1091V |
probably damaging |
Het |
Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
C130074G19Rik |
T |
C |
1: 184,606,571 (GRCm39) |
|
probably null |
Het |
C1ql4 |
T |
A |
15: 98,982,693 (GRCm39) |
H220L |
probably benign |
Het |
Cacna1s |
A |
G |
1: 136,028,363 (GRCm39) |
N1147S |
probably benign |
Het |
Cc2d2a |
T |
C |
5: 43,852,638 (GRCm39) |
|
probably null |
Het |
Ccl1 |
T |
A |
11: 82,070,519 (GRCm39) |
I18L |
probably benign |
Het |
Cfap410 |
C |
T |
10: 77,815,601 (GRCm39) |
T31I |
probably damaging |
Het |
Ecel1 |
A |
T |
1: 87,075,991 (GRCm39) |
Y729N |
probably damaging |
Het |
Epha4 |
T |
A |
1: 77,483,833 (GRCm39) |
I59F |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,456,381 (GRCm39) |
E2193G |
possibly damaging |
Het |
Galnt10 |
C |
G |
11: 57,674,549 (GRCm39) |
P513A |
probably damaging |
Het |
Gm5624 |
A |
G |
14: 44,798,190 (GRCm39) |
Y139H |
|
Het |
Golgb1 |
A |
C |
16: 36,735,786 (GRCm39) |
I1719L |
probably benign |
Het |
Hsf1 |
T |
C |
15: 76,382,393 (GRCm39) |
S255P |
probably benign |
Het |
Ighv2-2 |
T |
C |
12: 113,551,914 (GRCm39) |
D108G |
probably damaging |
Het |
Iho1 |
T |
C |
9: 108,282,870 (GRCm39) |
T273A |
probably benign |
Het |
Kbtbd3 |
C |
T |
9: 4,316,878 (GRCm39) |
Q10* |
probably null |
Het |
Kcnh2 |
C |
T |
5: 24,538,034 (GRCm39) |
V110M |
probably benign |
Het |
Magi3 |
A |
C |
3: 103,924,005 (GRCm39) |
L1112W |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 16,132,879 (GRCm39) |
D1933E |
unknown |
Het |
Mki67 |
G |
A |
7: 135,301,453 (GRCm39) |
R1194* |
probably null |
Het |
Nap1l1 |
T |
C |
10: 111,328,769 (GRCm39) |
Y233H |
probably damaging |
Het |
Napsa |
A |
G |
7: 44,234,758 (GRCm39) |
I298V |
probably benign |
Het |
Nkx6-1 |
A |
T |
5: 101,811,465 (GRCm39) |
S212R |
probably damaging |
Het |
Nlrc4 |
A |
T |
17: 74,752,610 (GRCm39) |
I591N |
probably damaging |
Het |
Or5b114-ps1 |
T |
C |
19: 13,352,431 (GRCm39) |
I35T |
possibly damaging |
Het |
Orc2 |
T |
C |
1: 58,506,827 (GRCm39) |
D503G |
possibly damaging |
Het |
Osbp |
T |
A |
19: 11,955,612 (GRCm39) |
S343T |
probably benign |
Het |
Pcdha6 |
T |
G |
18: 37,102,479 (GRCm39) |
D557E |
probably damaging |
Het |
Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
Ppdpf |
A |
G |
2: 180,829,650 (GRCm39) |
Y35C |
probably benign |
Het |
Scrn2 |
T |
A |
11: 96,921,755 (GRCm39) |
L75Q |
probably damaging |
Het |
Scube3 |
G |
A |
17: 28,390,200 (GRCm39) |
V955I |
probably benign |
Het |
Slc1a1 |
T |
C |
19: 28,889,161 (GRCm39) |
V478A |
probably benign |
Het |
Slc4a4 |
A |
G |
5: 89,206,137 (GRCm39) |
|
probably null |
Het |
Srrm2 |
T |
C |
17: 24,027,084 (GRCm39) |
L96P |
unknown |
Het |
Strn |
A |
T |
17: 78,977,852 (GRCm39) |
L175Q |
|
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 |
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'- GCCTAACGGTGACCTTGAAC -3'
(R):5'- AAACTCTGTGGTCTGTGTCTGC -3'
Sequencing Primer
(F):5'- ACGGTGACCTTGAACTGTTAC -3'
(R):5'- TCCTGAGCTCTGGCCTCAG -3'
|
Posted On |
2020-09-15 |