Incidental Mutation 'IGL01336:Ankrd7'
| ID |
74637 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd7
|
| Ensembl Gene |
ENSMUSG00000029517 |
| Gene Name |
ankyrin repeat domain 7 |
| Synonyms |
4930532L20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
18866317-18879585 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18868277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 133
(V133A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031489]
[ENSMUST00000115396]
|
| AlphaFold |
Q9D504 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031489
AA Change: V132A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000031489
Gene: ENSMUSG00000029517
AA Change: V132A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
55 |
N/A |
INTRINSIC |
|
ANK
|
80 |
109 |
1.06e-4 |
SMART |
|
ANK
|
113 |
142 |
5.45e-2 |
SMART |
|
ANK
|
146 |
175 |
6.92e-4 |
SMART |
|
ANK
|
179 |
208 |
1.94e-7 |
SMART |
|
ANK
|
212 |
241 |
1.99e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115396
AA Change: V133A
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000111054
Gene: ENSMUSG00000029517
AA Change: V133A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
55 |
N/A |
INTRINSIC |
|
ANK
|
80 |
109 |
1.06e-4 |
SMART |
|
ANK
|
113 |
143 |
3.07e2 |
SMART |
|
ANK
|
147 |
176 |
6.92e-4 |
SMART |
|
ANK
|
180 |
209 |
1.94e-7 |
SMART |
|
ANK
|
213 |
242 |
1.99e2 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
G |
T |
11: 100,386,736 (GRCm39) |
L599I |
probably benign |
Het |
| Adcyap1 |
A |
G |
17: 93,511,392 (GRCm39) |
D122G |
probably benign |
Het |
| Ahr |
A |
G |
12: 35,553,839 (GRCm39) |
V760A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,984 (GRCm39) |
V2256A |
probably damaging |
Het |
| Cblb |
A |
G |
16: 52,006,592 (GRCm39) |
K765E |
probably benign |
Het |
| Clmp |
A |
G |
9: 40,693,906 (GRCm39) |
*374W |
probably null |
Het |
| Ddc |
A |
G |
11: 11,796,630 (GRCm39) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,852,576 (GRCm39) |
Y1878C |
probably damaging |
Het |
| Ei24 |
A |
G |
9: 36,697,777 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,201,493 (GRCm39) |
M118T |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,616,773 (GRCm39) |
S107P |
possibly damaging |
Het |
| Map2k6 |
A |
G |
11: 110,387,237 (GRCm39) |
Y203C |
probably damaging |
Het |
| Mettl27 |
C |
T |
5: 134,964,734 (GRCm39) |
|
probably benign |
Het |
| Mrps14 |
G |
A |
1: 160,024,565 (GRCm39) |
W32* |
probably null |
Het |
| Naaa |
A |
C |
5: 92,412,992 (GRCm39) |
M208R |
probably benign |
Het |
| Nat2 |
A |
G |
8: 67,954,193 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 165,896,443 (GRCm39) |
S449G |
probably benign |
Het |
| Or4e5 |
A |
G |
14: 52,728,205 (GRCm39) |
I72T |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,483,997 (GRCm39) |
I53V |
probably benign |
Het |
| Phykpl |
G |
A |
11: 51,490,283 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
T |
C |
10: 85,150,028 (GRCm39) |
|
noncoding transcript |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,583 (GRCm39) |
M631L |
probably benign |
Het |
| Rgma |
G |
A |
7: 73,059,066 (GRCm39) |
V57M |
possibly damaging |
Het |
| Samd4b |
G |
T |
7: 28,113,388 (GRCm39) |
D192E |
probably benign |
Het |
| Sesn2 |
T |
C |
4: 132,226,678 (GRCm39) |
T139A |
probably benign |
Het |
| Slc30a6 |
A |
G |
17: 74,715,834 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,793,784 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,910,123 (GRCm39) |
Y182H |
possibly damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,269 (GRCm39) |
A395E |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,259,148 (GRCm39) |
R67L |
probably damaging |
Het |
| Trpa1 |
A |
C |
1: 14,957,104 (GRCm39) |
|
probably benign |
Het |
| Wdr91 |
G |
A |
6: 34,886,478 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ankrd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Ankrd7
|
APN |
6 |
18,879,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01916:Ankrd7
|
APN |
6 |
18,868,250 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02398:Ankrd7
|
APN |
6 |
18,866,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0031:Ankrd7
|
UTSW |
6 |
18,870,007 (GRCm39) |
nonsense |
probably null |
|
|
R0157:Ankrd7
|
UTSW |
6 |
18,866,539 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0207:Ankrd7
|
UTSW |
6 |
18,870,030 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2154:Ankrd7
|
UTSW |
6 |
18,870,030 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4255:Ankrd7
|
UTSW |
6 |
18,869,880 (GRCm39) |
splice site |
probably null |
|
|
R4581:Ankrd7
|
UTSW |
6 |
18,868,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4582:Ankrd7
|
UTSW |
6 |
18,868,020 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4958:Ankrd7
|
UTSW |
6 |
18,866,722 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5194:Ankrd7
|
UTSW |
6 |
18,868,076 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6077:Ankrd7
|
UTSW |
6 |
18,868,071 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6731:Ankrd7
|
UTSW |
6 |
18,866,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6898:Ankrd7
|
UTSW |
6 |
18,868,100 (GRCm39) |
splice site |
probably null |
|
|
R7170:Ankrd7
|
UTSW |
6 |
18,868,389 (GRCm39) |
nonsense |
probably null |
|
|
R7194:Ankrd7
|
UTSW |
6 |
18,879,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7749:Ankrd7
|
UTSW |
6 |
18,879,515 (GRCm39) |
splice site |
probably null |
|
|
R8348:Ankrd7
|
UTSW |
6 |
18,868,007 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8383:Ankrd7
|
UTSW |
6 |
18,868,410 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8448:Ankrd7
|
UTSW |
6 |
18,868,007 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8850:Ankrd7
|
UTSW |
6 |
18,870,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9530:Ankrd7
|
UTSW |
6 |
18,868,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9751:Ankrd7
|
UTSW |
6 |
18,868,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF012:Ankrd7
|
UTSW |
6 |
18,869,274 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
Z1177:Ankrd7
|
UTSW |
6 |
18,866,563 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2013-10-07 |
Incidental Mutation