Incidental Mutation 'IGL03309:Fank1'
| ID |
416492 |
| 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? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
IGL03309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
133378594-133483261 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133463902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 33
(T33A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065359]
[ENSMUST00000121560]
[ENSMUST00000151031]
[ENSMUST00000209511]
[ENSMUST00000211077]
|
| AlphaFold |
Q9DAM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065359
AA Change: T88A
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
AA Change: T88A
| 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
AA Change: T33A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119929
Gene: ENSMUSG00000053111
AA Change: T33A
| 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 benign
Transcript: ENSMUST00000209511
AA Change: T87A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211077
AA Change: T33A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,303 (GRCm39) |
T334A |
possibly damaging |
Het |
| Armc9 |
A |
G |
1: 86,202,155 (GRCm39) |
E771G |
possibly damaging |
Het |
| Cd207 |
G |
T |
6: 83,654,735 (GRCm39) |
T16K |
possibly damaging |
Het |
| Cd44 |
C |
T |
2: 102,644,522 (GRCm39) |
E421K |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,862,331 (GRCm39) |
Y584H |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,379,241 (GRCm39) |
|
probably null |
Het |
| Clpx |
T |
G |
9: 65,229,974 (GRCm39) |
L474R |
probably damaging |
Het |
| Cntd1 |
T |
C |
11: 101,175,590 (GRCm39) |
V143A |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,381,035 (GRCm39) |
V877A |
probably damaging |
Het |
| Dlx6 |
G |
T |
6: 6,867,289 (GRCm39) |
M158I |
possibly damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,637 (GRCm39) |
L828P |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,609 (GRCm39) |
S426T |
probably benign |
Het |
| Gabrg3 |
G |
T |
7: 56,632,433 (GRCm39) |
Q172K |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,908,141 (GRCm39) |
|
probably benign |
Het |
| Hypk |
T |
A |
2: 121,288,673 (GRCm39) |
L113* |
probably null |
Het |
| Hypk |
G |
T |
2: 121,288,674 (GRCm39) |
L113F |
probably damaging |
Het |
| Ipo5 |
G |
A |
14: 121,157,416 (GRCm39) |
V85I |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,986,579 (GRCm39) |
Y575* |
probably null |
Het |
| Morf4l1 |
T |
A |
9: 89,985,798 (GRCm39) |
E60V |
probably benign |
Het |
| Or52ac1 |
A |
G |
7: 104,246,248 (GRCm39) |
F47L |
probably benign |
Het |
| Or6c6 |
A |
T |
10: 129,187,178 (GRCm39) |
T249S |
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,825,265 (GRCm39) |
T130S |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,435,207 (GRCm39) |
Y507H |
probably damaging |
Het |
| Psme2b |
A |
C |
11: 48,836,626 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
T |
C |
1: 91,096,562 (GRCm39) |
|
probably null |
Het |
| Rngtt |
C |
A |
4: 33,339,091 (GRCm39) |
R299S |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,994,357 (GRCm39) |
S1308P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,954,998 (GRCm39) |
K398E |
possibly damaging |
Het |
| Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
| Srcap |
A |
G |
7: 127,129,965 (GRCm39) |
T616A |
probably damaging |
Het |
| Stk3 |
G |
A |
15: 35,099,697 (GRCm39) |
|
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,731,898 (GRCm39) |
D69V |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,359,816 (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 |
|
|
IGL02973:Fank1
|
APN |
7 |
133,478,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation