Incidental Mutation 'IGL01875:Ankrd24'
| ID |
178883 |
| 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? |
Probably essential
(E-score: 0.787)
|
| Stock # |
IGL01875
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81464374-81483444 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 81465571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042923]
[ENSMUST00000119324]
[ENSMUST00000119336]
[ENSMUST00000123896]
[ENSMUST00000123993]
[ENSMUST00000126323]
[ENSMUST00000153573]
[ENSMUST00000129622]
[ENSMUST00000143424]
[ENSMUST00000140345]
[ENSMUST00000152892]
|
| AlphaFold |
Q80VM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042923
|
| SMART Domains |
Protein: ENSMUSP00000048971
Gene: ENSMUSG00000034748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
52 |
81 |
1.1e-7 |
PFAM |
|
Pfam:SIR2
|
80 |
221 |
5.2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119324
|
| SMART Domains |
Protein: ENSMUSP00000113953
Gene: ENSMUSG00000034748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
12 |
48 |
2.1e-7 |
PFAM |
|
Pfam:SIR2
|
41 |
181 |
4.8e-20 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000119336
AA Change: K9E
|
| SMART Domains |
Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
AA Change: K9E
| 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 |
unknown
Transcript: ENSMUST00000123896
AA Change: K9E
|
| SMART Domains |
Protein: ENSMUSP00000116603
Gene: ENSMUSG00000054708
AA Change: K9E
| 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 |
noncoding transcript
Transcript: ENSMUST00000126477
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153573
AA Change: K9E
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000129622
AA Change: K9E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143424
|
| SMART Domains |
Protein: ENSMUSP00000118238
Gene: ENSMUSG00000034748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
12 |
50 |
1.1e-8 |
PFAM |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,682 (GRCm39) |
T287A |
probably damaging |
Het |
| Afm |
G |
T |
5: 90,696,742 (GRCm39) |
|
probably benign |
Het |
| Ankrd53 |
G |
T |
6: 83,740,031 (GRCm39) |
E62* |
probably null |
Het |
| Atg4b |
A |
G |
1: 93,706,032 (GRCm39) |
S162G |
probably damaging |
Het |
| B530045E10Rik |
A |
T |
10: 99,258,177 (GRCm39) |
|
noncoding transcript |
Het |
| Ccng1 |
A |
G |
11: 40,643,183 (GRCm39) |
V88A |
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,950,524 (GRCm39) |
M86L |
probably benign |
Het |
| Chrne |
A |
T |
11: 70,509,498 (GRCm39) |
|
probably null |
Het |
| Ctsh |
T |
C |
9: 89,946,260 (GRCm39) |
S109P |
probably damaging |
Het |
| Eif4g1 |
A |
C |
16: 20,499,790 (GRCm39) |
I420L |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fgfr1 |
A |
G |
8: 26,063,569 (GRCm39) |
M732V |
possibly damaging |
Het |
| Gata5 |
T |
G |
2: 179,969,138 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm3633 |
A |
T |
14: 42,461,234 (GRCm39) |
M18K |
probably damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,657,595 (GRCm39) |
L211P |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,994 (GRCm39) |
N81D |
possibly damaging |
Het |
| Irs2 |
A |
T |
8: 11,056,221 (GRCm39) |
M737K |
probably damaging |
Het |
| Itgb7 |
C |
A |
15: 102,126,430 (GRCm39) |
C502F |
probably damaging |
Het |
| Jakmip1 |
G |
T |
5: 37,278,324 (GRCm39) |
A534S |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,728 (GRCm39) |
H1636R |
probably benign |
Het |
| Kirrel1 |
T |
A |
3: 87,003,037 (GRCm39) |
I119F |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,217,354 (GRCm39) |
V527A |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,994,856 (GRCm39) |
E409G |
probably benign |
Het |
| Mtrr |
T |
G |
13: 68,720,728 (GRCm39) |
K289T |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,306,477 (GRCm39) |
I739F |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,142,934 (GRCm39) |
T612A |
unknown |
Het |
| Or12e7 |
T |
A |
2: 87,287,654 (GRCm39) |
N48K |
probably damaging |
Het |
| Or1x2 |
A |
T |
11: 50,918,202 (GRCm39) |
R124S |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,791 (GRCm39) |
|
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,341,594 (GRCm39) |
N5K |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,949,859 (GRCm39) |
C109S |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,635 (GRCm39) |
E660G |
possibly damaging |
Het |
| Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,109,715 (GRCm39) |
T3132S |
probably benign |
Het |
| Selenbp2 |
T |
A |
3: 94,605,451 (GRCm39) |
D92E |
possibly damaging |
Het |
| Slfn8 |
G |
T |
11: 82,894,905 (GRCm39) |
Q634K |
probably benign |
Het |
| Sumo3 |
A |
T |
10: 77,449,832 (GRCm39) |
I57F |
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,533,997 (GRCm39) |
Y341C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,757,726 (GRCm39) |
L173Q |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,469,385 (GRCm39) |
T458M |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,859 (GRCm39) |
C259* |
probably null |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,277 (GRCm39) |
F11L |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,484,302 (GRCm39) |
M633L |
probably benign |
Het |
| Vmn2r35 |
T |
C |
7: 7,819,772 (GRCm39) |
|
probably benign |
Het |
| Vwc2l |
G |
T |
1: 70,768,172 (GRCm39) |
A79S |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,301,372 (GRCm39) |
S2204F |
unknown |
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 |
|
|
IGL01073:Ankrd24
|
APN |
10 |
81,475,156 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
2014-05-07 |
Incidental Mutation