Incidental Mutation 'R7614:Ankrd24'
ID |
588776 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd24
|
Ensembl Gene |
ENSMUSG00000054708 |
Gene Name |
ankyrin repeat domain 24 |
Synonyms |
4631433D01Rik, D10Bur2e, 5730519E19Rik |
MMRRC Submission |
045682-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.730)
|
Stock # |
R7614 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
81464374-81483444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 81474523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 229
(G229E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112932
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119336]
[ENSMUST00000123896]
[ENSMUST00000123993]
[ENSMUST00000126323]
[ENSMUST00000140345]
[ENSMUST00000152892]
|
AlphaFold |
Q80VM7 |
Predicted Effect |
unknown
Transcript: ENSMUST00000119336
AA Change: G229E
|
SMART Domains |
Protein: ENSMUSP00000112932 Gene: ENSMUSG00000054708 AA Change: G229E
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 |
unknown
Transcript: ENSMUST00000126323
AA Change: G85E
|
SMART Domains |
Protein: ENSMUSP00000118286 Gene: ENSMUSG00000054708 AA Change: G85E
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: 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl2 |
A |
G |
1: 156,464,429 (GRCm39) |
T535A |
possibly damaging |
Het |
Adcy9 |
A |
T |
16: 4,236,088 (GRCm39) |
L441Q |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,668,780 (GRCm39) |
V2592E |
probably damaging |
Het |
Ahdc1 |
A |
G |
4: 132,790,825 (GRCm39) |
S689G |
probably benign |
Het |
Ankrd34c |
T |
A |
9: 89,610,914 (GRCm39) |
I476F |
probably damaging |
Het |
Arhgef19 |
A |
G |
4: 140,984,090 (GRCm39) |
H770R |
possibly damaging |
Het |
Arhgef4 |
T |
G |
1: 34,771,316 (GRCm39) |
S1208A |
possibly damaging |
Het |
Arid1a |
A |
T |
4: 133,418,466 (GRCm39) |
M654K |
unknown |
Het |
Atp11b |
T |
A |
3: 35,864,259 (GRCm39) |
|
probably null |
Het |
Cadps |
A |
G |
14: 12,454,260 (GRCm38) |
I1086T |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cfap276 |
T |
A |
3: 108,449,848 (GRCm39) |
D42E |
probably benign |
Het |
Cntn3 |
T |
C |
6: 102,142,337 (GRCm39) |
H1010R |
probably benign |
Het |
Cyp2c66 |
T |
A |
19: 39,159,472 (GRCm39) |
Y308N |
probably damaging |
Het |
Dok6 |
T |
A |
18: 89,492,067 (GRCm39) |
H170L |
probably damaging |
Het |
Eefsec |
C |
T |
6: 88,258,576 (GRCm39) |
D506N |
possibly damaging |
Het |
Fam181a |
C |
T |
12: 103,282,805 (GRCm39) |
P237S |
probably damaging |
Het |
Fam186b |
T |
C |
15: 99,184,867 (GRCm39) |
I19V |
probably damaging |
Het |
Gm3285 |
A |
T |
10: 77,697,865 (GRCm39) |
T5S |
unknown |
Het |
Heg1 |
A |
G |
16: 33,547,733 (GRCm39) |
E864G |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,803,023 (GRCm39) |
L2124* |
probably null |
Het |
Hexa |
T |
C |
9: 59,469,230 (GRCm39) |
S331P |
probably damaging |
Het |
Hspb1 |
A |
T |
5: 135,917,223 (GRCm39) |
D104V |
probably damaging |
Het |
Ikzf1 |
A |
T |
11: 11,719,019 (GRCm39) |
Q329L |
probably damaging |
Het |
Kcnf1 |
C |
A |
12: 17,224,787 (GRCm39) |
R478L |
probably benign |
Het |
Kdm3a |
T |
C |
6: 71,568,937 (GRCm39) |
T1161A |
possibly damaging |
Het |
Krtap31-2 |
T |
C |
11: 99,827,429 (GRCm39) |
I87T |
possibly damaging |
Het |
Lars2 |
T |
C |
9: 123,224,176 (GRCm39) |
S116P |
|
Het |
Lrrk2 |
A |
G |
15: 91,657,061 (GRCm39) |
D1785G |
probably damaging |
Het |
Myo10 |
A |
G |
15: 25,701,709 (GRCm39) |
H61R |
probably benign |
Het |
Or10x4 |
T |
G |
1: 174,219,220 (GRCm39) |
F195C |
probably damaging |
Het |
Or9s13 |
A |
G |
1: 92,548,183 (GRCm39) |
Y185C |
probably damaging |
Het |
Pcdhb4 |
C |
A |
18: 37,442,602 (GRCm39) |
H637Q |
probably benign |
Het |
Pcsk9 |
T |
A |
4: 106,304,763 (GRCm39) |
D435V |
probably benign |
Het |
Prickle2 |
T |
A |
6: 92,402,631 (GRCm39) |
Y119F |
possibly damaging |
Het |
Prr5 |
A |
G |
15: 84,641,276 (GRCm39) |
T181A |
probably benign |
Het |
Psd |
T |
A |
19: 46,301,877 (GRCm39) |
Q903L |
probably damaging |
Het |
Ptpn13 |
T |
A |
5: 103,649,331 (GRCm39) |
S245T |
probably benign |
Het |
Resp18 |
T |
C |
1: 75,254,882 (GRCm39) |
S24G |
probably damaging |
Het |
Slc17a4 |
T |
C |
13: 24,090,580 (GRCm39) |
T89A |
probably benign |
Het |
Slc9a9 |
A |
G |
9: 94,737,792 (GRCm39) |
Y233C |
probably damaging |
Het |
Slit1 |
T |
A |
19: 41,622,639 (GRCm39) |
I707F |
probably damaging |
Het |
Sp4 |
T |
C |
12: 118,218,174 (GRCm39) |
E691G |
possibly damaging |
Het |
Sun2 |
G |
T |
15: 79,623,225 (GRCm39) |
|
probably null |
Het |
Syne3 |
T |
C |
12: 104,912,901 (GRCm39) |
T723A |
not run |
Het |
Tcp1 |
T |
A |
17: 13,141,540 (GRCm39) |
F340I |
possibly damaging |
Het |
Tmem39b |
A |
T |
4: 129,587,694 (GRCm39) |
V39D |
probably damaging |
Het |
Tmtc3 |
A |
T |
10: 100,286,214 (GRCm39) |
Y536* |
probably null |
Het |
Tnfrsf11a |
A |
T |
1: 105,755,094 (GRCm39) |
T389S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,873 (GRCm39) |
T19347A |
possibly damaging |
Het |
Vmn1r68 |
A |
G |
7: 10,261,553 (GRCm39) |
S182P |
probably benign |
Het |
Vmn2r95 |
A |
G |
17: 18,660,352 (GRCm39) |
T255A |
probably benign |
Het |
Wdr59 |
T |
C |
8: 112,219,394 (GRCm39) |
Y221C |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCCTGGGTACAAAGACAGTTG -3'
(R):5'- TGAGGCTTCTTGAAACTGCCC -3'
Sequencing Primer
(F):5'- CCTGGGTACAAAGACAGTTGTATGG -3'
(R):5'- GCTTCTTGAAACTGCCCTGAGTTAAG -3'
|
Posted On |
2019-10-24 |