Incidental Mutation 'R8742:Filip1l'
ID |
663309 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1l
|
Ensembl Gene |
ENSMUSG00000043336 |
Gene Name |
filamin A interacting protein 1-like |
Synonyms |
4631422O05Rik |
MMRRC Submission |
068587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8742 (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 57391593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 727
(Y727C)
|
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: Y489C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124069 Gene: ENSMUSG00000043336 AA Change: Y489C
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: Y727C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: Y727C
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: 99.3%
- 20x: 97.0%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,265,835 (GRCm39) |
I893V |
probably benign |
Het |
Adhfe1 |
A |
G |
1: 9,630,401 (GRCm39) |
I317V |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,171,556 (GRCm39) |
V951A |
probably damaging |
Het |
Ankrd35 |
T |
A |
3: 96,586,502 (GRCm39) |
H59Q |
probably damaging |
Het |
Atg16l1 |
C |
T |
1: 87,694,620 (GRCm39) |
T161I |
probably damaging |
Het |
Axl |
A |
G |
7: 25,463,861 (GRCm39) |
V591A |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Cdcp3 |
A |
G |
7: 130,783,741 (GRCm39) |
I45V |
unknown |
Het |
Ceacam13 |
T |
A |
7: 17,743,934 (GRCm39) |
S14T |
probably damaging |
Het |
Cfh |
A |
T |
1: 140,029,390 (GRCm39) |
F986L |
probably damaging |
Het |
Cfh |
G |
T |
1: 140,064,469 (GRCm39) |
T393K |
probably damaging |
Het |
Clic1 |
A |
G |
17: 35,274,356 (GRCm39) |
N179S |
probably benign |
Het |
Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dst |
T |
A |
1: 34,251,425 (GRCm39) |
D2159E |
probably benign |
Het |
Epn3 |
T |
G |
11: 94,386,921 (GRCm39) |
T150P |
probably damaging |
Het |
Fgr |
T |
C |
4: 132,724,828 (GRCm39) |
Y310H |
probably damaging |
Het |
Fis1 |
G |
T |
5: 136,982,365 (GRCm39) |
|
probably benign |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gdf10 |
A |
T |
14: 33,654,426 (GRCm39) |
H311L |
probably benign |
Het |
Gphn |
C |
T |
12: 78,659,766 (GRCm39) |
R423C |
probably damaging |
Het |
Gpr132 |
T |
C |
12: 112,819,517 (GRCm39) |
|
probably benign |
Het |
Herc2 |
C |
A |
7: 55,744,143 (GRCm39) |
T406K |
probably benign |
Het |
Hpf1 |
T |
C |
8: 61,346,748 (GRCm39) |
V21A |
probably benign |
Het |
Ifitm6 |
A |
G |
7: 140,596,008 (GRCm39) |
I75T |
probably benign |
Het |
Itgax |
A |
T |
7: 127,743,795 (GRCm39) |
H852L |
probably benign |
Het |
Klhl3 |
T |
C |
13: 58,159,021 (GRCm39) |
Y546C |
probably damaging |
Het |
Lbr |
A |
G |
1: 181,644,571 (GRCm39) |
L578P |
possibly damaging |
Het |
Ltbp1 |
A |
G |
17: 75,617,217 (GRCm39) |
Y734C |
probably damaging |
Het |
Mapre2 |
C |
A |
18: 24,016,688 (GRCm39) |
H281N |
probably benign |
Het |
Mcm4 |
T |
C |
16: 15,443,430 (GRCm39) |
D831G |
possibly damaging |
Het |
Mlf1 |
G |
A |
3: 67,305,119 (GRCm39) |
A207T |
probably damaging |
Het |
Mslnl |
A |
T |
17: 25,964,047 (GRCm39) |
I459F |
probably damaging |
Het |
Mtnr1a |
A |
G |
8: 45,540,720 (GRCm39) |
D227G |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,851,216 (GRCm39) |
L803Q |
probably damaging |
Het |
Nr3c2 |
T |
G |
8: 77,635,210 (GRCm39) |
S104A |
probably damaging |
Het |
Or4k52 |
A |
G |
2: 111,610,910 (GRCm39) |
I82V |
probably benign |
Het |
Pard3 |
C |
T |
8: 128,050,592 (GRCm39) |
A218V |
possibly damaging |
Het |
Poteg |
A |
T |
8: 27,984,957 (GRCm39) |
N439Y |
possibly damaging |
Het |
Pramel34 |
T |
A |
5: 93,785,935 (GRCm39) |
D115V |
probably damaging |
Het |
Ret |
A |
T |
6: 118,155,484 (GRCm39) |
L404Q |
probably damaging |
Het |
Ripk4 |
A |
T |
16: 97,556,272 (GRCm39) |
V157D |
probably damaging |
Het |
Rsf1 |
CGGCGGCGGCGGCGGCGGCGGC |
CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Serinc1 |
A |
T |
10: 57,395,895 (GRCm39) |
N298K |
probably benign |
Het |
Sh3pxd2a |
G |
A |
19: 47,275,073 (GRCm39) |
S230L |
probably benign |
Het |
Shb |
G |
C |
4: 45,458,319 (GRCm39) |
R282G |
probably benign |
Het |
Skint11 |
T |
C |
4: 114,051,922 (GRCm39) |
I90T |
probably damaging |
Het |
Slc36a4 |
A |
G |
9: 15,632,039 (GRCm39) |
T72A |
probably damaging |
Het |
Slc38a9 |
T |
A |
13: 112,865,818 (GRCm39) |
I505K |
probably damaging |
Het |
Sprr3 |
C |
T |
3: 92,364,307 (GRCm39) |
R179H |
possibly damaging |
Het |
Syne1 |
A |
T |
10: 5,058,661 (GRCm39) |
I7284N |
probably benign |
Het |
Timeless |
A |
T |
10: 128,083,107 (GRCm39) |
T648S |
probably benign |
Het |
Trim44 |
A |
G |
2: 102,230,521 (GRCm39) |
M170T |
possibly damaging |
Het |
Trpm7 |
A |
G |
2: 126,667,469 (GRCm39) |
F815L |
probably damaging |
Het |
Uimc1 |
A |
G |
13: 55,240,971 (GRCm39) |
L39S |
possibly damaging |
Het |
Vmn2r13 |
T |
C |
5: 109,304,263 (GRCm39) |
T723A |
probably benign |
Het |
Vps11 |
A |
G |
9: 44,267,070 (GRCm39) |
|
probably benign |
Het |
Zp3r |
A |
T |
1: 130,511,230 (GRCm39) |
C383S |
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 |
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 |
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'- GTCTCAGGAGCTGGAACATG -3'
(R):5'- TAGTCTGGTGGCTCACTGTC -3'
Sequencing Primer
(F):5'- CATGCCAAGATGGAGCTTGC -3'
(R):5'- AATACTTGCGGGTCAGAGATTC -3'
|
Posted On |
2021-03-08 |