Incidental Mutation 'R8392:Filip1l'
| ID |
647449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1l
|
| Ensembl Gene |
ENSMUSG00000043336 |
| Gene Name |
filamin A interacting protein 1-like |
| Synonyms |
4631422O05Rik |
| MMRRC Submission |
067757-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8392 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
57173640-57393167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57391716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 768
(E768G)
|
| 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 damaging
Transcript: ENSMUST00000159414
AA Change: E530G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: E530G
| 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: E768G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: E768G
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
G |
A |
5: 81,794,397 (GRCm39) |
A473T |
probably benign |
Het |
| Ano2 |
T |
A |
6: 125,857,698 (GRCm39) |
N512K |
probably benign |
Het |
| Arhgap18 |
A |
T |
10: 26,721,936 (GRCm39) |
Y41F |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,969,908 (GRCm39) |
D584V |
probably damaging |
Het |
| Ccl2 |
A |
T |
11: 81,927,808 (GRCm39) |
Q84L |
probably damaging |
Het |
| Cdv3 |
T |
A |
9: 103,232,474 (GRCm39) |
H245L |
probably benign |
Het |
| Cfap54 |
T |
G |
10: 92,798,279 (GRCm39) |
K1660T |
unknown |
Het |
| Col4a1 |
T |
A |
8: 11,258,333 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
TTGCTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCCGCTGCTGCTGCTG |
19: 37,152,291 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,902,145 (GRCm39) |
R2365W |
possibly damaging |
Het |
| Crppa |
T |
A |
12: 36,440,497 (GRCm39) |
L135Q |
probably damaging |
Het |
| Ctsc |
A |
T |
7: 87,946,451 (GRCm39) |
Q160L |
probably benign |
Het |
| Cyp4a10 |
C |
T |
4: 115,386,675 (GRCm39) |
R441* |
probably null |
Het |
| Cyp8b1 |
T |
C |
9: 121,744,300 (GRCm39) |
E344G |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,607,869 (GRCm39) |
F3801L |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,352,550 (GRCm39) |
R2568G |
possibly damaging |
Het |
| Erbin |
T |
A |
13: 103,970,570 (GRCm39) |
E1015D |
probably damaging |
Het |
| H2ac13 |
C |
T |
13: 21,900,656 (GRCm39) |
A22V |
unknown |
Het |
| Ildr1 |
G |
A |
16: 36,542,720 (GRCm39) |
W417* |
probably null |
Het |
| Ildr1 |
G |
T |
16: 36,542,721 (GRCm39) |
D418Y |
probably damaging |
Het |
| Kdsr |
A |
T |
1: 106,671,583 (GRCm39) |
M142K |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,040,727 (GRCm39) |
V111E |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
| Muc13 |
G |
A |
16: 33,619,789 (GRCm39) |
G179D |
unknown |
Het |
| Nebl |
T |
A |
2: 17,457,363 (GRCm39) |
T66S |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
| Or1j20 |
T |
G |
2: 36,760,352 (GRCm39) |
I258S |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,573,910 (GRCm39) |
N292I |
probably damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,139,212 (GRCm39) |
Y280* |
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,599,696 (GRCm39) |
I46T |
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,637,352 (GRCm39) |
V1308A |
possibly damaging |
Het |
| Ppp1r9a |
T |
C |
6: 5,143,491 (GRCm39) |
|
probably null |
Het |
| Ptgdr |
A |
G |
14: 45,096,379 (GRCm39) |
M111T |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,866,370 (GRCm39) |
K850R |
probably benign |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Smtnl2 |
T |
A |
11: 72,293,993 (GRCm39) |
M188L |
probably benign |
Het |
| Snip1 |
G |
A |
4: 124,960,618 (GRCm39) |
V25M |
probably damaging |
Het |
| Spock3 |
A |
C |
8: 63,808,345 (GRCm39) |
D411A |
unknown |
Het |
| Sptbn4 |
C |
T |
7: 27,071,721 (GRCm39) |
R1581H |
probably damaging |
Het |
| Stard13 |
A |
G |
5: 150,965,627 (GRCm39) |
S1080P |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,070,566 (GRCm39) |
C2407S |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,636,651 (GRCm39) |
S845P |
probably damaging |
Het |
| Tnfsf13 |
T |
C |
11: 69,574,688 (GRCm39) |
Y202C |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,559,374 (GRCm39) |
C632* |
probably null |
Het |
| Tsr1 |
C |
A |
11: 74,791,096 (GRCm39) |
T225K |
probably benign |
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 |
|
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 |
|
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'- TCTTTAGGAGGCTCCAGGAAG -3'
(R):5'- TTAGGGTCGTCATCCTGGTC -3'
Sequencing Primer
(F):5'- CTTTAGGAGGCTCCAGGAAGAAGAAG -3'
(R):5'- CTCCTCATAGAACTGACCATTGATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation