Incidental Mutation 'IGL01487:Fank1'
| ID |
88775 |
| 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 # |
IGL01487
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
133378594-133483261 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133481638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 245
(T245A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065359]
[ENSMUST00000067680]
[ENSMUST00000121560]
[ENSMUST00000151031]
[ENSMUST00000209511]
|
| AlphaFold |
Q9DAM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065359
AA Change: T246A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
AA Change: T246A
| 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: ENSMUST00000067680
|
| SMART Domains |
Protein: ENSMUSP00000065213
Gene: ENSMUSG00000054555
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
35 |
165 |
1.1e-27 |
PFAM |
|
Pfam:Reprolysin_5
|
210 |
392 |
2.1e-24 |
PFAM |
|
Pfam:Reprolysin_4
|
210 |
408 |
3.8e-16 |
PFAM |
|
Pfam:Reprolysin
|
212 |
414 |
1.4e-74 |
PFAM |
|
Pfam:Reprolysin_2
|
232 |
404 |
6e-18 |
PFAM |
|
Pfam:Reprolysin_3
|
236 |
359 |
1.3e-16 |
PFAM |
|
DISIN
|
431 |
506 |
4.29e-42 |
SMART |
|
ACR
|
507 |
650 |
1.75e-67 |
SMART |
|
transmembrane domain
|
705 |
727 |
N/A |
INTRINSIC |
|
| 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: T245A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
A |
G |
6: 88,816,431 (GRCm39) |
V121A |
probably damaging |
Het |
| Carf |
A |
G |
1: 60,148,538 (GRCm39) |
H17R |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
| Ctsm |
C |
A |
13: 61,686,883 (GRCm39) |
R3L |
probably benign |
Het |
| Dnah3 |
G |
A |
7: 119,564,753 (GRCm39) |
Q2626* |
probably null |
Het |
| Dpp3 |
C |
T |
19: 4,963,920 (GRCm39) |
V587I |
probably benign |
Het |
| Golga5 |
A |
G |
12: 102,461,955 (GRCm39) |
|
probably benign |
Het |
| Hoxb9 |
C |
T |
11: 96,165,614 (GRCm39) |
Q228* |
probably null |
Het |
| Invs |
A |
G |
4: 48,398,136 (GRCm39) |
I441V |
probably benign |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,149,766 (GRCm39) |
E1243G |
probably benign |
Het |
| Rapgefl1 |
C |
T |
11: 98,737,961 (GRCm39) |
H392Y |
probably damaging |
Het |
| Ropn1 |
T |
C |
16: 34,498,839 (GRCm39) |
V209A |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,206,802 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
G |
9: 119,391,689 (GRCm39) |
M1T |
probably null |
Het |
| Serpinb11 |
A |
T |
1: 107,307,568 (GRCm39) |
Y333F |
probably benign |
Het |
| Sf3b3 |
A |
G |
8: 111,544,292 (GRCm39) |
Y783H |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,376,715 (GRCm39) |
M990V |
probably benign |
Het |
| Syt3 |
G |
T |
7: 44,040,423 (GRCm39) |
V219F |
possibly damaging |
Het |
| Tmtc4 |
A |
G |
14: 123,163,443 (GRCm39) |
L647S |
probably benign |
Het |
|
| Other mutations in Fank1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation