Incidental Mutation 'IGL02646:Fank1'
| ID |
301972 |
| 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 # |
IGL02646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
133378594-133483261 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 133481758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065359]
[ENSMUST00000067680]
[ENSMUST00000121560]
[ENSMUST00000151031]
[ENSMUST00000209511]
|
| AlphaFold |
Q9DAM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065359
|
| SMART Domains |
Protein: ENSMUSP00000069013
Gene: ENSMUSG00000053111
| 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 benign
Transcript: ENSMUST00000209511
|
| 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 |
|---|
| 1700013G24Rik |
T |
A |
4: 137,182,101 (GRCm39) |
Y85* |
probably null |
Het |
| Abcg2 |
A |
G |
6: 58,662,681 (GRCm39) |
I508V |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,913,075 (GRCm39) |
|
probably null |
Het |
| Api5 |
T |
A |
2: 94,260,184 (GRCm39) |
H24L |
possibly damaging |
Het |
| Apoh |
T |
C |
11: 108,302,968 (GRCm39) |
V311A |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Brca2 |
G |
T |
5: 150,484,255 (GRCm39) |
V2994L |
possibly damaging |
Het |
| Brd1 |
A |
T |
15: 88,585,080 (GRCm39) |
V918D |
probably damaging |
Het |
| Calr3 |
T |
G |
8: 73,197,304 (GRCm39) |
D43A |
possibly damaging |
Het |
| Cdh16 |
T |
C |
8: 105,348,737 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,995,548 (GRCm39) |
S2033P |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,564,194 (GRCm39) |
T1955M |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
| Eri2 |
T |
C |
7: 119,385,331 (GRCm39) |
D390G |
possibly damaging |
Het |
| Hoxb7 |
A |
T |
11: 96,177,570 (GRCm39) |
Y6F |
possibly damaging |
Het |
| Hspg2 |
A |
C |
4: 137,279,159 (GRCm39) |
S3081R |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,892 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,174,212 (GRCm39) |
I1762T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,155,622 (GRCm39) |
D445G |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,697 (GRCm39) |
Y35C |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,330,622 (GRCm39) |
I827F |
possibly damaging |
Het |
| Poglut3 |
A |
G |
9: 53,295,551 (GRCm39) |
D51G |
probably benign |
Het |
| Rnls |
C |
A |
19: 33,115,684 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,129,962 (GRCm39) |
|
probably null |
Het |
| Sec22b |
T |
A |
3: 97,828,561 (GRCm39) |
V208E |
possibly damaging |
Het |
| Slc8a3 |
A |
T |
12: 81,361,868 (GRCm39) |
I317N |
probably damaging |
Het |
| Snx33 |
A |
G |
9: 56,834,043 (GRCm39) |
Y9H |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,529,473 (GRCm39) |
T1910N |
probably damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,753 (GRCm39) |
I47F |
probably damaging |
Het |
| Tedc1 |
T |
G |
12: 113,120,921 (GRCm39) |
L118V |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,163,278 (GRCm39) |
S1090T |
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,812,311 (GRCm39) |
D511G |
probably benign |
Het |
| Usp21 |
T |
C |
1: 171,110,669 (GRCm39) |
|
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,946 (GRCm39) |
L748Q |
probably damaging |
Het |
| Zp2 |
T |
C |
7: 119,734,564 (GRCm39) |
D495G |
possibly damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation