Incidental Mutation 'R8670:Ankrd24'
| ID |
661109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd24
|
| Ensembl Gene |
ENSMUSG00000054708 |
| Gene Name |
ankyrin repeat domain 24 |
| Synonyms |
4631433D01Rik, D10Bur2e, 5730519E19Rik |
| MMRRC Submission |
068525-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.730)
|
| Stock # |
R8670 (G1)
|
| Quality Score |
186.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81464374-81483444 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 81465526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042923]
[ENSMUST00000119324]
[ENSMUST00000119336]
[ENSMUST00000123896]
[ENSMUST00000123993]
[ENSMUST00000126323]
[ENSMUST00000129622]
[ENSMUST00000140345]
[ENSMUST00000143424]
[ENSMUST00000152892]
[ENSMUST00000153573]
|
| 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 |
probably benign
Transcript: ENSMUST00000119336
|
| SMART Domains |
Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
| 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: 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: ENSMUST00000129622
|
| 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: 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: ENSMUST00000152892
|
| SMART Domains |
Protein: ENSMUSP00000123676
Gene: ENSMUSG00000054708
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
24 |
53 |
7.53e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153573
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,966,424 (GRCm39) |
L403Q |
probably damaging |
Het |
| Actl11 |
T |
C |
9: 107,805,959 (GRCm39) |
F94S |
possibly damaging |
Het |
| Adam34 |
C |
T |
8: 44,105,126 (GRCm39) |
C173Y |
possibly damaging |
Het |
| Armh2 |
A |
G |
13: 24,930,240 (GRCm39) |
E162G |
probably benign |
Het |
| Atp12a |
A |
T |
14: 56,617,546 (GRCm39) |
D612V |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,140,013 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc178 |
T |
C |
18: 22,230,719 (GRCm39) |
E384G |
possibly damaging |
Het |
| Cd82 |
T |
A |
2: 93,250,905 (GRCm39) |
T212S |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,061,958 (GRCm39) |
L263* |
probably null |
Het |
| Cfap57 |
T |
G |
4: 118,472,122 (GRCm39) |
I86L |
possibly damaging |
Het |
| Chd5 |
T |
C |
4: 152,469,953 (GRCm39) |
M1842T |
possibly damaging |
Het |
| Clcn7 |
T |
C |
17: 25,378,588 (GRCm39) |
F691S |
probably damaging |
Het |
| Cpvl |
A |
T |
6: 53,951,780 (GRCm39) |
M1K |
probably null |
Het |
| Cym |
T |
C |
3: 107,118,812 (GRCm39) |
|
probably null |
Het |
| Diaph3 |
T |
C |
14: 86,893,835 (GRCm39) |
E1147G |
probably benign |
Het |
| Eif4g3 |
T |
G |
4: 137,885,823 (GRCm39) |
|
probably null |
Het |
| Esp3 |
A |
G |
17: 40,943,040 (GRCm39) |
D11G |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,717,505 (GRCm39) |
Y865C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,108,791 (GRCm39) |
Q273L |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,650,282 (GRCm39) |
V118I |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,478,542 (GRCm39) |
N417D |
probably benign |
Het |
| Il1rl1 |
A |
T |
1: 40,480,559 (GRCm39) |
I63F |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,741,349 (GRCm39) |
Y785C |
probably damaging |
Het |
| Kif5b |
A |
C |
18: 6,214,631 (GRCm39) |
S599A |
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,327 (GRCm39) |
I152N |
probably damaging |
Het |
| Mex3c |
GC |
G |
18: 73,722,776 (GRCm39) |
|
probably null |
Het |
| Muc21 |
T |
A |
17: 35,932,540 (GRCm39) |
T549S |
unknown |
Het |
| Or52n2c |
A |
T |
7: 104,574,419 (GRCm39) |
M184K |
probably damaging |
Het |
| Or8g2 |
A |
G |
9: 39,821,719 (GRCm39) |
I207V |
probably benign |
Het |
| Orc3 |
A |
T |
4: 34,572,529 (GRCm39) |
I633N |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,732,061 (GRCm39) |
R3521H |
unknown |
Het |
| Plec |
A |
G |
15: 76,061,726 (GRCm39) |
L2737P |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,159,186 (GRCm39) |
I813F |
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,207,621 (GRCm39) |
M517K |
probably damaging |
Het |
| Rab8a |
TA |
TAA |
8: 72,925,130 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,349,563 (GRCm39) |
L3808P |
|
Het |
| Scnn1b |
A |
G |
7: 121,498,472 (GRCm39) |
K4R |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,923,387 (GRCm39) |
S453P |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,784,849 (GRCm39) |
K165E |
probably damaging |
Het |
| Slc49a4 |
G |
T |
16: 35,556,005 (GRCm39) |
Q152K |
possibly damaging |
Het |
| Slco1a7 |
G |
A |
6: 141,711,468 (GRCm39) |
T81I |
possibly damaging |
Het |
| Smarce1 |
T |
C |
11: 99,101,098 (GRCm39) |
T345A |
possibly damaging |
Het |
| Spty2d1 |
T |
C |
7: 46,647,519 (GRCm39) |
N470S |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,776,587 (GRCm39) |
D763V |
probably damaging |
Het |
| Tbl1xr1 |
A |
T |
3: 22,245,164 (GRCm39) |
E171D |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,064,746 (GRCm39) |
I1392K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,739,774 (GRCm39) |
E827G |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,191,067 (GRCm39) |
Y185C |
probably damaging |
Het |
| Vmn2r18 |
C |
A |
5: 151,485,854 (GRCm39) |
D547Y |
probably damaging |
Het |
| Wdpcp |
T |
C |
11: 21,645,196 (GRCm39) |
V208A |
probably benign |
Het |
| Zfp322a |
T |
A |
13: 23,541,274 (GRCm39) |
Q156L |
possibly damaging |
Het |
| Zfp947 |
T |
C |
17: 22,364,687 (GRCm39) |
D329G |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGAACTAGTGCTGCTGG -3'
(R):5'- GAAAACTGAACCAGGGACCTGC -3'
Sequencing Primer
(F):5'- TTGTGATGCACGCTCAGC -3'
(R):5'- AGCTGACCTGCTGGAGTAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation