Incidental Mutation 'R9744:Ankrd24'
| ID |
731987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd24
|
| Ensembl Gene |
ENSMUSG00000054708 |
| Gene Name |
ankyrin repeat domain 24 |
| Synonyms |
4631433D01Rik, D10Bur2e, 5730519E19Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.730)
|
| Stock # |
R9744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
81464374-81483444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 81482951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 966
(D966E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119336]
[ENSMUST00000123993]
[ENSMUST00000189672]
|
| AlphaFold |
Q80VM7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119336
AA Change: D966E
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
AA Change: D966E
| 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: 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 damaging
Transcript: ENSMUST00000132458
AA Change: D157E
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000121709
Gene: ENSMUSG00000054708
AA Change: D157E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
94 |
N/A |
INTRINSIC |
|
Blast:ANK
|
142 |
175 |
3e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189672
|
| SMART Domains |
Protein: ENSMUSP00000140398
Gene: ENSMUSG00000096856
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.5e-18 |
SMART |
|
ZnF_C2H2
|
104 |
126 |
6.4e-6 |
SMART |
|
ZnF_C2H2
|
132 |
154 |
4.4e-8 |
SMART |
|
ZnF_C2H2
|
160 |
182 |
1.5e-5 |
SMART |
|
ZnF_C2H2
|
188 |
210 |
3.5e-6 |
SMART |
|
ZnF_C2H2
|
216 |
238 |
2.9e-6 |
SMART |
|
ZnF_C2H2
|
244 |
266 |
3e-5 |
SMART |
|
ZnF_C2H2
|
272 |
294 |
7.7e-6 |
SMART |
|
ZnF_C2H2
|
300 |
322 |
2e-5 |
SMART |
|
ZnF_C2H2
|
328 |
350 |
1.4e-6 |
SMART |
|
ZnF_C2H2
|
356 |
378 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
384 |
406 |
9.4e-6 |
SMART |
|
ZnF_C2H2
|
412 |
434 |
4.3e-5 |
SMART |
|
ZnF_C2H2
|
440 |
462 |
2e-6 |
SMART |
|
ZnF_C2H2
|
468 |
490 |
3.7e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,742,583 (GRCm39) |
M677L |
probably benign |
Het |
| Arhgef28 |
A |
G |
13: 98,094,261 (GRCm39) |
L961P |
probably damaging |
Het |
| Atxn1 |
G |
A |
13: 45,721,299 (GRCm39) |
Q199* |
probably null |
Het |
| Bcl2a1c |
G |
A |
9: 114,159,341 (GRCm39) |
V40I |
probably benign |
Het |
| Cep41 |
A |
G |
6: 30,656,603 (GRCm39) |
V283A |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,033,491 (GRCm39) |
Y311H |
probably damaging |
Het |
| Ciz1 |
A |
T |
2: 32,253,859 (GRCm39) |
Q13L |
unknown |
Het |
| Cpeb2 |
T |
C |
5: 43,391,268 (GRCm39) |
S155P |
|
Het |
| Dmbx1 |
T |
A |
4: 115,777,262 (GRCm39) |
E200D |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Erc1 |
T |
C |
6: 119,720,360 (GRCm39) |
Y747C |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,637,124 (GRCm39) |
E1114G |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gys2 |
A |
C |
6: 142,394,187 (GRCm39) |
D450E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,623,941 (GRCm39) |
I1120N |
probably damaging |
Het |
| Ints3 |
G |
T |
3: 90,318,605 (GRCm39) |
T210K |
probably damaging |
Het |
| Itih5 |
T |
C |
2: 10,256,221 (GRCm39) |
Y896H |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,056,402 (GRCm39) |
D206G |
probably benign |
Het |
| Klhl10 |
T |
A |
11: 100,336,396 (GRCm39) |
C128S |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,320,255 (GRCm39) |
V603A |
probably damaging |
Het |
| Mapk15 |
T |
A |
15: 75,869,912 (GRCm39) |
I344N |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,715,711 (GRCm39) |
F1993L |
possibly damaging |
Het |
| Myo1c |
T |
C |
11: 75,562,797 (GRCm39) |
L959P |
probably damaging |
Het |
| Nectin1 |
A |
G |
9: 43,715,240 (GRCm39) |
Q492R |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,796,987 (GRCm39) |
L951F |
probably damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,120,902 (GRCm39) |
S705R |
possibly damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,267,266 (GRCm39) |
Y787C |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,201,182 (GRCm39) |
T189A |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,209,510 (GRCm39) |
Y1606H |
probably damaging |
Het |
| Or2w4 |
A |
G |
13: 21,795,827 (GRCm39) |
F104S |
possibly damaging |
Het |
| Or4k48 |
C |
A |
2: 111,475,664 (GRCm39) |
R226L |
probably benign |
Het |
| Or6z5 |
A |
T |
7: 6,477,210 (GRCm39) |
I34L |
probably benign |
Het |
| Pitx2 |
A |
T |
3: 129,009,467 (GRCm39) |
T129S |
probably damaging |
Het |
| Pla2g2c |
T |
C |
4: 138,470,972 (GRCm39) |
S118P |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,906,372 (GRCm39) |
N396S |
probably benign |
Het |
| Prl |
A |
T |
13: 27,248,338 (GRCm39) |
Q135L |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,505,733 (GRCm39) |
L2555P |
possibly damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,495 (GRCm39) |
D335V |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,765,294 (GRCm39) |
|
probably null |
Het |
| Ramp2 |
T |
A |
11: 101,137,913 (GRCm39) |
S52T |
unknown |
Het |
| Skint6 |
C |
T |
4: 112,666,360 (GRCm39) |
G1155D |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,215,275 (GRCm39) |
R655C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,274,184 (GRCm39) |
C1867R |
probably benign |
Het |
| Tcf21 |
T |
C |
10: 22,695,726 (GRCm39) |
D26G |
probably benign |
Het |
| Tmem132a |
G |
A |
19: 10,840,678 (GRCm39) |
P418L |
probably damaging |
Het |
| Tob1 |
C |
T |
11: 94,105,054 (GRCm39) |
R197C |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,848 (GRCm39) |
V607A |
probably damaging |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,284 (GRCm39) |
S850P |
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 |
|
|
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 |
|
|
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'- TTGATCCCCTGACACTACCTGG -3'
(R):5'- AGCTGGCCACCATCGATAAG -3'
Sequencing Primer
(F):5'- TGTTCAGAGCCAGCCTCATG -3'
(R):5'- CCATCGATAAGGCCCCAGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation