Incidental Mutation 'IGL01073:Ankrd24'
ID |
52052 |
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 # |
IGL01073
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
81464374-81483444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 81475156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 110
(D110G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118286
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119336]
[ENSMUST00000123896]
[ENSMUST00000123993]
[ENSMUST00000126323]
[ENSMUST00000140345]
[ENSMUST00000152892]
|
AlphaFold |
Q80VM7 |
Predicted Effect |
unknown
Transcript: ENSMUST00000119336
AA Change: D254G
|
SMART Domains |
Protein: ENSMUSP00000112932 Gene: ENSMUSG00000054708 AA Change: D254G
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 |
possibly damaging
Transcript: ENSMUST00000126323
AA Change: D110G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000118286 Gene: ENSMUSG00000054708 AA Change: D110G
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 |
noncoding transcript
Transcript: ENSMUST00000129491
|
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: ENSMUST00000154707
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137978
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140345
|
SMART Domains |
Protein: ENSMUSP00000123618 Gene: ENSMUSG00000054708
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Blast:ANK
|
48 |
78 |
9e-8 |
BLAST |
ANK
|
82 |
111 |
2.92e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152892
|
SMART Domains |
Protein: ENSMUSP00000123676 Gene: ENSMUSG00000054708
Domain | Start | End | E-Value | Type |
ANK
|
24 |
53 |
7.53e-5 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccnd3 |
A |
G |
17: 47,905,770 (GRCm39) |
T104A |
probably benign |
Het |
Cntnap5b |
A |
T |
1: 100,003,755 (GRCm39) |
D245V |
probably benign |
Het |
Cryab |
A |
G |
9: 50,665,855 (GRCm39) |
K82R |
probably damaging |
Het |
Dnmt3b |
G |
A |
2: 153,512,762 (GRCm39) |
|
probably benign |
Het |
Eif2b5 |
A |
T |
16: 20,319,046 (GRCm39) |
K99* |
probably null |
Het |
Fam222b |
A |
G |
11: 78,045,314 (GRCm39) |
I292V |
probably damaging |
Het |
Itpr1 |
A |
C |
6: 108,390,781 (GRCm39) |
N1560T |
probably benign |
Het |
Lca5 |
T |
A |
9: 83,277,528 (GRCm39) |
K605N |
probably damaging |
Het |
Letm1 |
T |
C |
5: 33,906,144 (GRCm39) |
D424G |
possibly damaging |
Het |
Mtif3 |
C |
A |
5: 146,895,790 (GRCm39) |
R99L |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,221,510 (GRCm39) |
M430V |
probably benign |
Het |
Or4c121 |
A |
T |
2: 89,023,481 (GRCm39) |
L299Q |
possibly damaging |
Het |
Pgap2 |
T |
A |
7: 101,875,661 (GRCm39) |
|
probably benign |
Het |
Phf11c |
A |
T |
14: 59,626,797 (GRCm39) |
S129T |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,354,086 (GRCm39) |
N154S |
probably damaging |
Het |
Rfng |
C |
T |
11: 120,674,747 (GRCm39) |
R81H |
probably benign |
Het |
Rnf38 |
A |
G |
4: 44,137,645 (GRCm39) |
M280T |
probably benign |
Het |
Rrp7a |
G |
A |
15: 83,002,282 (GRCm39) |
A185V |
probably benign |
Het |
Slc22a2 |
C |
A |
17: 12,803,236 (GRCm39) |
F23L |
probably benign |
Het |
Slc35f1 |
A |
G |
10: 52,898,056 (GRCm39) |
T156A |
probably benign |
Het |
Slfn1 |
A |
T |
11: 83,012,163 (GRCm39) |
Y93F |
probably benign |
Het |
Snrnp200 |
A |
T |
2: 127,056,832 (GRCm39) |
|
probably benign |
Het |
Sos1 |
A |
G |
17: 80,730,176 (GRCm39) |
F701S |
probably damaging |
Het |
Tmem203 |
A |
C |
2: 25,145,736 (GRCm39) |
I19L |
probably benign |
Het |
Usp8 |
A |
T |
2: 126,560,034 (GRCm39) |
K18N |
probably damaging |
Het |
Vmn2r115 |
G |
A |
17: 23,564,971 (GRCm39) |
R286K |
probably benign |
Het |
Vmn2r23 |
A |
C |
6: 123,689,759 (GRCm39) |
T212P |
possibly damaging |
Het |
|
Other mutations in Ankrd24 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00776:Ankrd24
|
APN |
10 |
81,478,979 (GRCm39) |
unclassified |
probably benign |
|
IGL00809:Ankrd24
|
APN |
10 |
81,478,901 (GRCm39) |
unclassified |
probably benign |
|
IGL01021:Ankrd24
|
APN |
10 |
81,470,995 (GRCm39) |
splice site |
probably null |
|
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 |
2013-06-21 |