Incidental Mutation 'IGL00776:Ankrd24'
| ID |
8906 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd24
|
| Ensembl Gene |
ENSMUSG00000054708 |
| Gene Name |
ankyrin repeat domain 24 |
| Synonyms |
4631433D01Rik, D10Bur2e, 5730519E19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.730)
|
| Stock # |
IGL00776
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81464374-81483444 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to C
at 81478979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119336]
[ENSMUST00000123896]
[ENSMUST00000123993]
[ENSMUST00000126323]
|
| AlphaFold |
Q80VM7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000119336
AA Change: Q646P
|
| SMART Domains |
Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
AA Change: Q646P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
18 |
48 |
1e-6 |
BLAST |
|
ANK
|
52 |
81 |
2.92e-2 |
SMART |
|
ANK
|
85 |
114 |
7.53e-5 |
SMART |
|
ANK
|
118 |
149 |
4.07e-1 |
SMART |
|
ANK
|
151 |
180 |
2.92e-2 |
SMART |
|
ANK
|
184 |
213 |
3.97e-4 |
SMART |
|
low complexity region
|
240 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
283 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
488 |
606 |
4.87e-8 |
PROSPERO |
|
internal_repeat_2
|
597 |
713 |
4.87e-8 |
PROSPERO |
|
low complexity region
|
718 |
736 |
N/A |
INTRINSIC |
|
coiled coil region
|
747 |
895 |
N/A |
INTRINSIC |
|
Blast:ANK
|
950 |
977 |
3e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123305
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123896
|
| SMART Domains |
Protein: ENSMUSP00000116603
Gene: ENSMUSG00000054708
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
23 |
54 |
4.07e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123993
|
| SMART Domains |
Protein: ENSMUSP00000117975
Gene: ENSMUSG00000054708
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Blast:ANK
|
48 |
78 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126323
|
| SMART Domains |
Protein: ENSMUSP00000118286
Gene: ENSMUSG00000054708
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
7 |
36 |
2.92e-2 |
SMART |
|
ANK
|
40 |
69 |
3.97e-4 |
SMART |
|
low complexity region
|
96 |
106 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132458
|
| SMART Domains |
Protein: ENSMUSP00000121709
Gene: ENSMUSG00000054708
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
94 |
N/A |
INTRINSIC |
|
Blast:ANK
|
142 |
175 |
3e-7 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154707
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142390
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
T |
2: 19,545,182 (GRCm39) |
D90E |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,883,589 (GRCm39) |
S560G |
probably damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,906,486 (GRCm39) |
I461N |
probably benign |
Het |
| Eif4a1 |
G |
A |
11: 69,559,922 (GRCm39) |
L166F |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,328,320 (GRCm39) |
H1542Q |
probably benign |
Het |
| Itih4 |
G |
A |
14: 30,611,561 (GRCm39) |
V95I |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,680,720 (GRCm39) |
I289T |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Mterf1a |
A |
C |
5: 3,941,809 (GRCm39) |
W20G |
possibly damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,922,809 (GRCm39) |
S161P |
probably damaging |
Het |
| Slc25a21 |
G |
A |
12: 56,816,990 (GRCm39) |
T99I |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,818,584 (GRCm39) |
S619P |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,332,795 (GRCm39) |
|
probably null |
Het |
| Strn4 |
C |
T |
7: 16,564,377 (GRCm39) |
R185C |
probably damaging |
Het |
| Tctn3 |
A |
G |
19: 40,585,865 (GRCm39) |
F560S |
probably damaging |
Het |
|
| Other mutations in Ankrd24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Ankrd24
|
APN |
10 |
81,478,901 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01021:Ankrd24
|
APN |
10 |
81,470,995 (GRCm39) |
splice site |
probably null |
|
|
IGL01073:Ankrd24
|
APN |
10 |
81,475,156 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01875:Ankrd24
|
APN |
10 |
81,465,571 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03083:Ankrd24
|
APN |
10 |
81,474,483 (GRCm39) |
missense |
probably benign |
|
|
IGL03335:Ankrd24
|
APN |
10 |
81,482,967 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0129:Ankrd24
|
UTSW |
10 |
81,474,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0243:Ankrd24
|
UTSW |
10 |
81,470,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0522:Ankrd24
|
UTSW |
10 |
81,472,189 (GRCm39) |
splice site |
probably benign |
|
|
R0607:Ankrd24
|
UTSW |
10 |
81,474,142 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0707:Ankrd24
|
UTSW |
10 |
81,478,547 (GRCm39) |
unclassified |
probably benign |
|
|
R1472:Ankrd24
|
UTSW |
10 |
81,470,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Ankrd24
|
UTSW |
10 |
81,474,472 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1852:Ankrd24
|
UTSW |
10 |
81,478,775 (GRCm39) |
unclassified |
probably benign |
|
|
R1891:Ankrd24
|
UTSW |
10 |
81,479,342 (GRCm39) |
unclassified |
probably benign |
|
|
R2137:Ankrd24
|
UTSW |
10 |
81,482,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Ankrd24
|
UTSW |
10 |
81,478,513 (GRCm39) |
unclassified |
probably benign |
|
|
R4798:Ankrd24
|
UTSW |
10 |
81,479,149 (GRCm39) |
unclassified |
probably benign |
|
|
R4952:Ankrd24
|
UTSW |
10 |
81,482,982 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5068:Ankrd24
|
UTSW |
10 |
81,475,699 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5237:Ankrd24
|
UTSW |
10 |
81,478,379 (GRCm39) |
unclassified |
probably benign |
|
|
R5418:Ankrd24
|
UTSW |
10 |
81,480,776 (GRCm39) |
unclassified |
probably benign |
|
|
R5795:Ankrd24
|
UTSW |
10 |
81,480,937 (GRCm39) |
unclassified |
probably benign |
|
|
R7188:Ankrd24
|
UTSW |
10 |
81,472,224 (GRCm39) |
nonsense |
probably null |
|
|
R7614:Ankrd24
|
UTSW |
10 |
81,474,523 (GRCm39) |
missense |
unknown |
|
|
R7750:Ankrd24
|
UTSW |
10 |
81,482,628 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8004:Ankrd24
|
UTSW |
10 |
81,474,191 (GRCm39) |
missense |
unknown |
|
|
R8190:Ankrd24
|
UTSW |
10 |
81,474,152 (GRCm39) |
missense |
unknown |
|
|
R8415:Ankrd24
|
UTSW |
10 |
81,475,947 (GRCm39) |
missense |
unknown |
|
|
R8670:Ankrd24
|
UTSW |
10 |
81,465,526 (GRCm39) |
start gained |
probably benign |
|
|
R8898:Ankrd24
|
UTSW |
10 |
81,478,352 (GRCm39) |
missense |
unknown |
|
|
R9475:Ankrd24
|
UTSW |
10 |
81,478,133 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9593:Ankrd24
|
UTSW |
10 |
81,475,898 (GRCm39) |
missense |
unknown |
|
|
R9744:Ankrd24
|
UTSW |
10 |
81,482,951 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9780:Ankrd24
|
UTSW |
10 |
81,482,196 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
RF001:Ankrd24
|
UTSW |
10 |
81,479,405 (GRCm39) |
unclassified |
probably benign |
|
|
RF011:Ankrd24
|
UTSW |
10 |
81,479,405 (GRCm39) |
unclassified |
probably benign |
|
|
RF037:Ankrd24
|
UTSW |
10 |
81,479,407 (GRCm39) |
nonsense |
probably null |
|
|
RF061:Ankrd24
|
UTSW |
10 |
81,479,401 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Ankrd24
|
UTSW |
10 |
81,474,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation