Incidental Mutation 'R7691:Filip1l'
| ID |
593417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Filip1l
|
| Ensembl Gene |
ENSMUSG00000043336 |
| Gene Name |
filamin A interacting protein 1-like |
| Synonyms |
4631422O05Rik |
| MMRRC Submission |
045755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7691 (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 57392796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1128
(N1128S)
|
| 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
AA Change: N890S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124069
Gene: ENSMUSG00000043336
AA Change: N890S
| 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 benign
Transcript: ENSMUST00000159816
AA Change: N1128S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124179
Gene: ENSMUSG00000043336
AA Change: N1128S
| 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: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,773,219 (GRCm39) |
C1763S |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,256,540 (GRCm39) |
V782A |
probably benign |
Het |
| Arhgef17 |
G |
A |
7: 100,578,849 (GRCm39) |
R700C |
probably damaging |
Het |
| Atxn2l |
T |
C |
7: 126,091,782 (GRCm39) |
|
probably null |
Het |
| Bach2 |
A |
G |
4: 32,580,271 (GRCm39) |
E832G |
probably damaging |
Het |
| Brpf3 |
G |
C |
17: 29,025,805 (GRCm39) |
A293P |
probably damaging |
Het |
| Cacfd1 |
T |
C |
2: 26,900,106 (GRCm39) |
L36P |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,220,742 (GRCm39) |
E268G |
probably damaging |
Het |
| Ccnjl |
A |
T |
11: 43,474,028 (GRCm39) |
Q201L |
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,560,048 (GRCm39) |
V372A |
probably damaging |
Het |
| Cenpf |
C |
A |
1: 189,390,404 (GRCm39) |
E1143* |
probably null |
Het |
| Colgalt1 |
A |
T |
8: 72,073,398 (GRCm39) |
M340L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,376,497 (GRCm39) |
Y1586H |
not run |
Het |
| Csmd3 |
A |
G |
15: 47,604,569 (GRCm39) |
I1058T |
|
Het |
| Dock1 |
G |
A |
7: 134,739,886 (GRCm39) |
|
probably null |
Het |
| Dzank1 |
G |
A |
2: 144,348,091 (GRCm39) |
T225I |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,151,162 (GRCm39) |
R721W |
possibly damaging |
Het |
| Fdps |
A |
G |
3: 89,006,674 (GRCm39) |
V72A |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 52,991,510 (GRCm39) |
Y342N |
unknown |
Het |
| Gria1 |
A |
T |
11: 57,127,813 (GRCm39) |
I410F |
possibly damaging |
Het |
| Gsdmc4 |
C |
A |
15: 63,765,640 (GRCm39) |
S303I |
probably damaging |
Het |
| Herc2 |
C |
T |
7: 55,841,593 (GRCm39) |
P3491S |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,130,886 (GRCm39) |
I59V |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,084,389 (GRCm39) |
H927R |
possibly damaging |
Het |
| Lrrc8e |
T |
C |
8: 4,284,534 (GRCm39) |
M253T |
probably damaging |
Het |
| Ltn1 |
G |
T |
16: 87,195,574 (GRCm39) |
H1317Q |
probably damaging |
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,303,721 (GRCm39) |
V716I |
not run |
Het |
| Mllt10 |
A |
G |
2: 18,208,422 (GRCm39) |
S694G |
possibly damaging |
Het |
| Mllt10 |
G |
C |
2: 18,208,423 (GRCm39) |
S694T |
probably null |
Het |
| Mtcl1 |
A |
G |
17: 66,687,352 (GRCm39) |
L518S |
probably damaging |
Het |
| Or2ad1 |
G |
A |
13: 21,327,140 (GRCm39) |
A29V |
probably benign |
Het |
| Pcdh10 |
G |
T |
3: 45,335,632 (GRCm39) |
D649Y |
probably damaging |
Het |
| Pdgfrb |
C |
T |
18: 61,194,340 (GRCm39) |
T39M |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,655,726 (GRCm39) |
E342G |
probably benign |
Het |
| Pon1 |
C |
T |
6: 5,175,819 (GRCm39) |
V235I |
probably benign |
Het |
| Rhobtb3 |
A |
T |
13: 76,027,056 (GRCm39) |
V439E |
probably damaging |
Het |
| Septin8 |
A |
G |
11: 53,428,414 (GRCm39) |
T355A |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,947,168 (GRCm39) |
T1174I |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,461,163 (GRCm39) |
T3535S |
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,301,983 (GRCm39) |
V80A |
probably damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,384,708 (GRCm39) |
I123V |
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,095,727 (GRCm39) |
I348F |
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,436 (GRCm39) |
R253* |
probably null |
Het |
| Tbc1d4 |
T |
C |
14: 101,745,077 (GRCm39) |
K183R |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,192,610 (GRCm39) |
D608V |
probably damaging |
Het |
| Tnfsf14 |
T |
A |
17: 57,501,024 (GRCm39) |
T16S |
possibly damaging |
Het |
| Togaram2 |
A |
G |
17: 72,023,405 (GRCm39) |
T774A |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,464,515 (GRCm39) |
A87E |
probably benign |
Het |
| Tsn |
T |
C |
1: 118,237,505 (GRCm39) |
D53G |
probably benign |
Het |
| Usp37 |
TC |
T |
1: 74,525,919 (GRCm39) |
|
probably null |
Het |
| Vav2 |
T |
A |
2: 27,187,750 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
T |
A |
7: 9,893,109 (GRCm39) |
I677F |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,592,851 (GRCm39) |
Y452F |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,687,111 (GRCm39) |
R831G |
probably damaging |
Het |
| Zfp821 |
T |
C |
8: 110,447,871 (GRCm39) |
S71P |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,063,373 (GRCm39) |
I286F |
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 |
|
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'- AGCTCAAGTGTGATAACTACTGAG -3'
(R):5'- TGTGACTATGCAGGCAACAC -3'
Sequencing Primer
(F):5'- GAAGTCCTTACATGCAAGCTGTG -3'
(R):5'- TGCAGGCAACACATAGTTAGTTCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation