Incidental Mutation 'R7327:Filip1l'
ID |
569020 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Filip1l
|
Ensembl Gene |
ENSMUSG00000043336 |
Gene Name |
filamin A interacting protein 1-like |
Synonyms |
4631422O05Rik |
MMRRC Submission |
045420-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7327 (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 C
at 57391300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 629
(E629D)
|
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: E391D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124069 Gene: ENSMUSG00000043336 AA Change: E391D
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: E629D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124179 Gene: ENSMUSG00000043336 AA Change: E629D
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: 99.0%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
C |
T |
16: 20,367,430 (GRCm39) |
T3I |
probably benign |
Het |
Ahi1 |
T |
A |
10: 20,862,976 (GRCm39) |
V717E |
probably damaging |
Het |
Anapc4 |
A |
G |
5: 53,002,672 (GRCm39) |
T238A |
probably damaging |
Het |
Arhgap27 |
A |
T |
11: 103,251,367 (GRCm39) |
C120* |
probably null |
Het |
Bdp1 |
A |
T |
13: 100,178,040 (GRCm39) |
V1943D |
probably damaging |
Het |
Cdc14b |
A |
G |
13: 64,373,461 (GRCm39) |
V141A |
probably damaging |
Het |
Cfap46 |
G |
T |
7: 139,215,062 (GRCm39) |
|
probably null |
Het |
Cgnl1 |
C |
A |
9: 71,633,165 (GRCm39) |
R62L |
possibly damaging |
Het |
Chaf1a |
A |
G |
17: 56,369,573 (GRCm39) |
S522G |
probably benign |
Het |
Cox19 |
A |
G |
5: 139,328,402 (GRCm39) |
F37S |
probably damaging |
Het |
Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
Cyp4a12a |
A |
T |
4: 115,184,756 (GRCm39) |
R346W |
probably damaging |
Het |
Dip2a |
A |
C |
10: 76,108,396 (GRCm39) |
C1315G |
probably benign |
Het |
Dmxl2 |
A |
C |
9: 54,308,869 (GRCm39) |
W1961G |
probably damaging |
Het |
Dst |
T |
C |
1: 34,240,486 (GRCm39) |
L1945P |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,691,627 (GRCm39) |
S92G |
probably damaging |
Het |
Ep300 |
C |
T |
15: 81,511,515 (GRCm39) |
T865I |
unknown |
Het |
Ercc6 |
A |
G |
14: 32,248,361 (GRCm39) |
E304G |
probably benign |
Het |
Frem1 |
G |
A |
4: 82,938,992 (GRCm39) |
T30I |
possibly damaging |
Het |
Glb1 |
T |
C |
9: 114,246,126 (GRCm39) |
F59S |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,900,144 (GRCm39) |
L1177P |
probably benign |
Het |
Gpatch2l |
A |
G |
12: 86,303,646 (GRCm39) |
T223A |
probably damaging |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,479,565 (GRCm39) |
M4633K |
probably benign |
Het |
Hoxc8 |
T |
A |
15: 102,899,542 (GRCm39) |
Y111N |
probably damaging |
Het |
Ifi207 |
A |
G |
1: 173,556,581 (GRCm39) |
L726P |
probably benign |
Het |
Iqcn |
T |
A |
8: 71,169,453 (GRCm39) |
M1181K |
possibly damaging |
Het |
Iqgap2 |
T |
A |
13: 95,772,163 (GRCm39) |
M1339L |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,087,387 (GRCm39) |
Q901R |
possibly damaging |
Het |
Krtap4-8 |
C |
A |
11: 99,671,234 (GRCm39) |
C79F |
unknown |
Het |
Ldb3 |
T |
C |
14: 34,293,759 (GRCm39) |
N155S |
probably damaging |
Het |
Mad2l1 |
T |
A |
6: 66,516,794 (GRCm39) |
V162E |
probably benign |
Het |
Map7 |
T |
A |
10: 20,109,208 (GRCm39) |
V87E |
unknown |
Het |
Mndal |
A |
T |
1: 173,703,185 (GRCm39) |
D73E |
unknown |
Het |
Msantd1 |
T |
C |
5: 35,075,039 (GRCm39) |
S34P |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,260,977 (GRCm39) |
Q1838R |
possibly damaging |
Het |
Myh15 |
G |
T |
16: 48,993,369 (GRCm39) |
R1668L |
possibly damaging |
Het |
Ncoa7 |
A |
G |
10: 30,565,796 (GRCm39) |
M666T |
probably damaging |
Het |
Nol6 |
A |
T |
4: 41,116,686 (GRCm39) |
L944Q |
probably benign |
Het |
Or5h27 |
A |
T |
16: 59,006,376 (GRCm39) |
F157I |
unknown |
Het |
Orc1 |
A |
G |
4: 108,445,911 (GRCm39) |
T10A |
probably benign |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Pglyrp2 |
C |
T |
17: 32,634,893 (GRCm39) |
A490T |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,187 (GRCm39) |
C395* |
probably null |
Het |
Ppp1r11 |
T |
C |
17: 37,261,900 (GRCm39) |
R12G |
possibly damaging |
Het |
Prlr |
A |
G |
15: 10,346,524 (GRCm39) |
D290G |
probably benign |
Het |
Ptpn21 |
G |
T |
12: 98,646,360 (GRCm39) |
R1033S |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,570,660 (GRCm39) |
L1220P |
possibly damaging |
Het |
Rufy3 |
G |
A |
5: 88,790,811 (GRCm39) |
R504H |
probably damaging |
Het |
Scgb2b21 |
C |
T |
7: 33,219,330 (GRCm39) |
V25I |
probably benign |
Het |
Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
Slain2 |
A |
T |
5: 73,132,002 (GRCm39) |
T498S |
probably benign |
Het |
Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
Slc30a9 |
A |
T |
5: 67,499,462 (GRCm39) |
I307F |
probably damaging |
Het |
Snap91 |
C |
T |
9: 86,655,598 (GRCm39) |
G800R |
unknown |
Het |
Tnc |
G |
T |
4: 63,882,999 (GRCm39) |
|
probably null |
Het |
Trav21-dv12 |
T |
C |
14: 54,113,514 (GRCm39) |
|
probably benign |
Het |
Txk |
A |
T |
5: 72,873,226 (GRCm39) |
I228N |
probably damaging |
Het |
Vac14 |
T |
C |
8: 111,438,252 (GRCm39) |
Y622H |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdr35 |
T |
G |
12: 9,037,312 (GRCm39) |
M306R |
probably benign |
Het |
Zan |
A |
T |
5: 137,463,494 (GRCm39) |
S562T |
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 |
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'- TCAAGTCCAAAACTGATGCAGAAG -3'
(R):5'- ACTTGGCAAGCTCCATCTTG -3'
Sequencing Primer
(F):5'- TGTAACCAAGGAGAGAGATGACCTC -3'
(R):5'- GCAAGCTCCATCTTGGCATG -3'
|
Posted On |
2019-09-13 |