Incidental Mutation 'IGL02973:Fank1'
ID |
365904 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fank1
|
Ensembl Gene |
ENSMUSG00000053111 |
Gene Name |
fibronectin type 3 and ankyrin repeat domains 1 |
Synonyms |
1700007B22Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.203)
|
Stock # |
IGL02973
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
133378594-133483261 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 133478578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 213
(L213P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147964
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065359]
[ENSMUST00000121560]
[ENSMUST00000151031]
[ENSMUST00000209511]
|
AlphaFold |
Q9DAM9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065359
AA Change: L214P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000069013 Gene: ENSMUSG00000053111 AA Change: L214P
Domain | Start | End | E-Value | Type |
FN3
|
9 |
94 |
4.74e-3 |
SMART |
Blast:ANK
|
109 |
139 |
1e-9 |
BLAST |
ANK
|
143 |
172 |
1.4e-4 |
SMART |
ANK
|
176 |
205 |
3.18e-3 |
SMART |
ANK
|
209 |
238 |
1.48e-3 |
SMART |
ANK
|
243 |
273 |
2.5e-1 |
SMART |
ANK
|
277 |
306 |
3.33e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121560
|
SMART Domains |
Protein: ENSMUSP00000114136 Gene: ENSMUSG00000053111
Domain | Start | End | E-Value | Type |
PDB:1WFU|A
|
1 |
66 |
3e-43 |
PDB |
Blast:FN3
|
9 |
66 |
3e-35 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151031
|
SMART Domains |
Protein: ENSMUSP00000119929 Gene: ENSMUSG00000053111
Domain | Start | End | E-Value | Type |
Blast:FN3
|
1 |
39 |
6e-20 |
BLAST |
PDB:1WFU|A
|
1 |
52 |
3e-30 |
PDB |
Blast:ANK
|
54 |
84 |
2e-10 |
BLAST |
ANK
|
88 |
117 |
1.4e-4 |
SMART |
ANK
|
121 |
150 |
3.18e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209511
AA Change: L213P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ada |
A |
G |
2: 163,573,053 (GRCm39) |
L193P |
probably benign |
Het |
Ago2 |
A |
T |
15: 72,995,314 (GRCm39) |
|
probably benign |
Het |
Ankrd26 |
A |
G |
6: 118,500,511 (GRCm39) |
S987P |
probably damaging |
Het |
Ap2a2 |
T |
C |
7: 141,211,277 (GRCm39) |
F938L |
possibly damaging |
Het |
Arhgap35 |
A |
G |
7: 16,296,803 (GRCm39) |
V754A |
possibly damaging |
Het |
Atp10b |
A |
T |
11: 43,088,336 (GRCm39) |
N314I |
probably damaging |
Het |
Atp5f1a |
T |
C |
18: 77,867,849 (GRCm39) |
V291A |
probably damaging |
Het |
Ccm2 |
C |
A |
11: 6,534,544 (GRCm39) |
P19T |
probably damaging |
Het |
Cdc5l |
C |
A |
17: 45,715,573 (GRCm39) |
A680S |
probably benign |
Het |
Cds1 |
A |
G |
5: 101,960,376 (GRCm39) |
T276A |
probably damaging |
Het |
Cit |
A |
G |
5: 116,144,058 (GRCm39) |
R1976G |
possibly damaging |
Het |
Col6a5 |
T |
C |
9: 105,803,020 (GRCm39) |
D1315G |
unknown |
Het |
Emilin1 |
T |
G |
5: 31,078,007 (GRCm39) |
L922R |
probably damaging |
Het |
Foxc2 |
T |
C |
8: 121,844,788 (GRCm39) |
S479P |
probably benign |
Het |
Golgb1 |
G |
A |
16: 36,732,442 (GRCm39) |
R563H |
possibly damaging |
Het |
Hoxb13 |
A |
G |
11: 96,085,669 (GRCm39) |
Y134C |
probably damaging |
Het |
Krtap4-16 |
A |
T |
11: 99,742,167 (GRCm39) |
C78S |
possibly damaging |
Het |
Lars1 |
C |
T |
18: 42,347,824 (GRCm39) |
|
probably null |
Het |
Lipe |
T |
C |
7: 25,083,057 (GRCm39) |
N740S |
probably damaging |
Het |
Mbd1 |
C |
T |
18: 74,408,498 (GRCm39) |
|
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,203,721 (GRCm39) |
D1700G |
probably damaging |
Het |
Mpp7 |
A |
G |
18: 7,403,297 (GRCm39) |
Y338H |
probably damaging |
Het |
Pdgfrl |
A |
G |
8: 41,438,631 (GRCm39) |
D189G |
probably damaging |
Het |
Pira12 |
T |
C |
7: 3,900,239 (GRCm39) |
Y121C |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,646,546 (GRCm39) |
N1293S |
probably damaging |
Het |
Ppm1e |
C |
A |
11: 87,131,488 (GRCm39) |
A302S |
probably damaging |
Het |
Rassf8 |
A |
G |
6: 145,762,916 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 88,990,618 (GRCm39) |
W52R |
probably damaging |
Het |
Skint8 |
T |
C |
4: 111,796,790 (GRCm39) |
V298A |
probably benign |
Het |
Tulp1 |
A |
T |
17: 28,577,516 (GRCm39) |
|
probably benign |
Het |
Unc5c |
T |
A |
3: 141,494,651 (GRCm39) |
D321E |
probably benign |
Het |
Usp16 |
G |
A |
16: 87,276,627 (GRCm39) |
C654Y |
probably damaging |
Het |
Vwce |
G |
A |
19: 10,632,764 (GRCm39) |
W575* |
probably null |
Het |
Wdr89 |
T |
G |
12: 75,679,873 (GRCm39) |
D127A |
probably damaging |
Het |
Zc3h6 |
G |
A |
2: 128,839,715 (GRCm39) |
R176Q |
probably damaging |
Het |
Zfp942 |
A |
G |
17: 22,151,972 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Fank1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01487:Fank1
|
APN |
7 |
133,481,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02646:Fank1
|
APN |
7 |
133,481,758 (GRCm39) |
splice site |
probably benign |
|
IGL03309:Fank1
|
APN |
7 |
133,463,902 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT1430001:Fank1
|
UTSW |
7 |
133,478,529 (GRCm39) |
nonsense |
probably null |
|
R0620:Fank1
|
UTSW |
7 |
133,478,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Fank1
|
UTSW |
7 |
133,482,352 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1997:Fank1
|
UTSW |
7 |
133,463,954 (GRCm39) |
missense |
probably damaging |
0.96 |
R5103:Fank1
|
UTSW |
7 |
133,478,570 (GRCm39) |
nonsense |
probably null |
|
R5264:Fank1
|
UTSW |
7 |
133,481,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R5353:Fank1
|
UTSW |
7 |
133,478,632 (GRCm39) |
missense |
probably damaging |
0.99 |
R5523:Fank1
|
UTSW |
7 |
133,478,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R5579:Fank1
|
UTSW |
7 |
133,471,058 (GRCm39) |
splice site |
probably null |
|
R5695:Fank1
|
UTSW |
7 |
133,471,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R6226:Fank1
|
UTSW |
7 |
133,463,927 (GRCm39) |
missense |
probably benign |
0.05 |
R6996:Fank1
|
UTSW |
7 |
133,478,627 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7225:Fank1
|
UTSW |
7 |
133,454,988 (GRCm39) |
missense |
probably benign |
|
R7884:Fank1
|
UTSW |
7 |
133,478,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R8086:Fank1
|
UTSW |
7 |
133,454,959 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8282:Fank1
|
UTSW |
7 |
133,478,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R8678:Fank1
|
UTSW |
7 |
133,463,957 (GRCm39) |
critical splice donor site |
probably null |
|
R9787:Fank1
|
UTSW |
7 |
133,463,887 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2015-12-18 |