Incidental Mutation 'IGL01722:Ankrd9'
ID |
105153 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ankrd9
|
Ensembl Gene |
ENSMUSG00000037904 |
Gene Name |
ankyrin repeat domain 9 |
Synonyms |
2500003O20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01722
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
110942854-110945516 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 110943797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 46
(V46A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043459]
[ENSMUST00000128353]
[ENSMUST00000135131]
[ENSMUST00000140788]
[ENSMUST00000142012]
[ENSMUST00000148765]
[ENSMUST00000165978]
[ENSMUST00000169597]
|
AlphaFold |
Q8BH83 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043459
AA Change: V46A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048823 Gene: ENSMUSG00000037904 AA Change: V46A
Domain | Start | End | E-Value | Type |
Blast:ANK
|
70 |
99 |
1e-6 |
BLAST |
Blast:ANK
|
111 |
139 |
3e-6 |
BLAST |
ANK
|
157 |
186 |
1.42e0 |
SMART |
low complexity region
|
213 |
233 |
N/A |
INTRINSIC |
low complexity region
|
238 |
246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128353
AA Change: V46A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120816 Gene: ENSMUSG00000037904 AA Change: V46A
Domain | Start | End | E-Value | Type |
Blast:ANK
|
70 |
99 |
1e-6 |
BLAST |
Blast:ANK
|
111 |
139 |
3e-6 |
BLAST |
ANK
|
157 |
186 |
1.42e0 |
SMART |
low complexity region
|
213 |
233 |
N/A |
INTRINSIC |
low complexity region
|
238 |
246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135131
AA Change: V46A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119339 Gene: ENSMUSG00000037904 AA Change: V46A
Domain | Start | End | E-Value | Type |
Blast:ANK
|
70 |
99 |
1e-6 |
BLAST |
Blast:ANK
|
111 |
139 |
3e-6 |
BLAST |
ANK
|
157 |
186 |
1.42e0 |
SMART |
low complexity region
|
213 |
233 |
N/A |
INTRINSIC |
low complexity region
|
238 |
246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140788
AA Change: V46A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121279 Gene: ENSMUSG00000037904 AA Change: V46A
Domain | Start | End | E-Value | Type |
Blast:ANK
|
70 |
99 |
1e-6 |
BLAST |
Blast:ANK
|
111 |
139 |
3e-6 |
BLAST |
ANK
|
157 |
186 |
1.42e0 |
SMART |
low complexity region
|
213 |
233 |
N/A |
INTRINSIC |
low complexity region
|
238 |
246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000142012
AA Change: V79A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121536 Gene: ENSMUSG00000037904 AA Change: V79A
Domain | Start | End | E-Value | Type |
Blast:ANK
|
103 |
132 |
1e-6 |
BLAST |
Blast:ANK
|
144 |
172 |
2e-6 |
BLAST |
ANK
|
190 |
219 |
1.42e0 |
SMART |
low complexity region
|
246 |
266 |
N/A |
INTRINSIC |
low complexity region
|
271 |
279 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144882
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148765
AA Change: V46A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123239 Gene: ENSMUSG00000037904 AA Change: V46A
Domain | Start | End | E-Value | Type |
Blast:ANK
|
70 |
99 |
1e-6 |
BLAST |
Blast:ANK
|
111 |
139 |
3e-6 |
BLAST |
ANK
|
157 |
186 |
1.42e0 |
SMART |
low complexity region
|
213 |
233 |
N/A |
INTRINSIC |
low complexity region
|
238 |
246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165978
|
SMART Domains |
Protein: ENSMUSP00000127949 Gene: ENSMUSG00000021275
Domain | Start | End | E-Value | Type |
WD40
|
21 |
61 |
8.52e1 |
SMART |
WD40
|
65 |
105 |
2.54e2 |
SMART |
WD40
|
113 |
155 |
2.49e-1 |
SMART |
TECPR
|
280 |
314 |
9.81e0 |
SMART |
TECPR
|
316 |
353 |
2.55e0 |
SMART |
low complexity region
|
392 |
424 |
N/A |
INTRINSIC |
low complexity region
|
464 |
471 |
N/A |
INTRINSIC |
low complexity region
|
553 |
564 |
N/A |
INTRINSIC |
low complexity region
|
655 |
670 |
N/A |
INTRINSIC |
TECPR
|
814 |
850 |
2.28e2 |
SMART |
TECPR
|
898 |
931 |
1.79e-1 |
SMART |
TECPR
|
939 |
974 |
5.61e-3 |
SMART |
TECPR
|
985 |
1023 |
1.55e-5 |
SMART |
TECPR
|
1173 |
1208 |
1.29e-2 |
SMART |
TECPR
|
1216 |
1255 |
2.82e-8 |
SMART |
TECPR
|
1266 |
1308 |
1.05e-7 |
SMART |
TECPR
|
1317 |
1351 |
1.42e-4 |
SMART |
TECPR
|
1360 |
1394 |
5.03e-5 |
SMART |
low complexity region
|
1414 |
1421 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169597
|
SMART Domains |
Protein: ENSMUSP00000126749 Gene: ENSMUSG00000021275
Domain | Start | End | E-Value | Type |
WD40
|
21 |
61 |
8.52e1 |
SMART |
WD40
|
65 |
105 |
2.54e2 |
SMART |
WD40
|
113 |
155 |
2.49e-1 |
SMART |
TECPR
|
280 |
314 |
9.81e0 |
SMART |
TECPR
|
316 |
353 |
2.55e0 |
SMART |
low complexity region
|
392 |
424 |
N/A |
INTRINSIC |
low complexity region
|
464 |
471 |
N/A |
INTRINSIC |
low complexity region
|
553 |
564 |
N/A |
INTRINSIC |
low complexity region
|
655 |
670 |
N/A |
INTRINSIC |
TECPR
|
814 |
850 |
2.28e2 |
SMART |
TECPR
|
898 |
931 |
1.79e-1 |
SMART |
TECPR
|
939 |
974 |
5.61e-3 |
SMART |
TECPR
|
985 |
1023 |
1.55e-5 |
SMART |
TECPR
|
1173 |
1208 |
1.29e-2 |
SMART |
TECPR
|
1216 |
1255 |
2.82e-8 |
SMART |
TECPR
|
1266 |
1308 |
1.05e-7 |
SMART |
TECPR
|
1317 |
1351 |
1.42e-4 |
SMART |
TECPR
|
1360 |
1394 |
5.03e-5 |
SMART |
low complexity region
|
1414 |
1421 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
T |
A |
2: 58,173,561 (GRCm39) |
|
probably benign |
Het |
Alb |
G |
A |
5: 90,618,698 (GRCm39) |
|
probably null |
Het |
Apol11a |
A |
T |
15: 77,401,307 (GRCm39) |
M265L |
probably benign |
Het |
Ccdc158 |
T |
C |
5: 92,810,598 (GRCm39) |
N97D |
possibly damaging |
Het |
Cobl |
T |
G |
11: 12,203,987 (GRCm39) |
H823P |
probably benign |
Het |
Dnaja2 |
A |
T |
8: 86,279,908 (GRCm39) |
H90Q |
probably benign |
Het |
Dpagt1 |
T |
C |
9: 44,238,899 (GRCm39) |
F73S |
possibly damaging |
Het |
Dph3 |
C |
T |
14: 31,807,417 (GRCm39) |
E20K |
possibly damaging |
Het |
Fbxl13 |
G |
T |
5: 21,695,412 (GRCm39) |
T660K |
possibly damaging |
Het |
Gask1a |
G |
A |
9: 121,794,149 (GRCm39) |
S101N |
possibly damaging |
Het |
Glt6d1 |
T |
C |
2: 25,684,431 (GRCm39) |
T192A |
probably benign |
Het |
Mroh7 |
C |
T |
4: 106,560,358 (GRCm39) |
V649I |
probably benign |
Het |
Mta3 |
T |
C |
17: 84,063,072 (GRCm39) |
Y4H |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,292,956 (GRCm39) |
L369P |
probably damaging |
Het |
Or2y1 |
G |
T |
11: 49,385,793 (GRCm39) |
L144F |
probably damaging |
Het |
Or4c52 |
T |
C |
2: 89,845,351 (GRCm39) |
C26R |
probably benign |
Het |
Paxx |
T |
C |
2: 25,350,277 (GRCm39) |
D110G |
probably damaging |
Het |
Pcyox1 |
T |
G |
6: 86,365,735 (GRCm39) |
D493A |
probably damaging |
Het |
Plk2 |
A |
G |
13: 110,535,976 (GRCm39) |
E560G |
probably benign |
Het |
Rnf6 |
A |
G |
5: 146,147,036 (GRCm39) |
F661L |
probably benign |
Het |
Sema4a |
T |
C |
3: 88,345,491 (GRCm39) |
K531E |
probably benign |
Het |
Svs5 |
T |
C |
2: 164,079,446 (GRCm39) |
K154E |
possibly damaging |
Het |
Tbx4 |
A |
T |
11: 85,802,769 (GRCm39) |
Q242L |
probably damaging |
Het |
Tgm3 |
A |
T |
2: 129,886,488 (GRCm39) |
I570F |
probably damaging |
Het |
Thrap3 |
A |
T |
4: 126,059,322 (GRCm39) |
M908K |
possibly damaging |
Het |
Trmo |
A |
G |
4: 46,386,092 (GRCm39) |
|
probably null |
Het |
Usp8 |
T |
A |
2: 126,600,072 (GRCm39) |
L997Q |
probably damaging |
Het |
Vmn1r202 |
T |
C |
13: 22,685,890 (GRCm39) |
R176G |
probably benign |
Het |
Vps52 |
T |
A |
17: 34,180,589 (GRCm39) |
Y308* |
probably null |
Het |
|
Other mutations in Ankrd9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02220:Ankrd9
|
APN |
12 |
110,943,933 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
IGL02327:Ankrd9
|
APN |
12 |
110,943,849 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03148:Ankrd9
|
APN |
12 |
110,943,293 (GRCm39) |
missense |
probably benign |
|
R4321:Ankrd9
|
UTSW |
12 |
110,943,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Ankrd9
|
UTSW |
12 |
110,943,669 (GRCm39) |
missense |
probably benign |
0.25 |
R5918:Ankrd9
|
UTSW |
12 |
110,943,200 (GRCm39) |
missense |
probably benign |
|
R6233:Ankrd9
|
UTSW |
12 |
110,943,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R6661:Ankrd9
|
UTSW |
12 |
110,944,202 (GRCm39) |
intron |
probably benign |
|
R6695:Ankrd9
|
UTSW |
12 |
110,943,497 (GRCm39) |
missense |
probably benign |
0.03 |
R7672:Ankrd9
|
UTSW |
12 |
110,943,180 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-01-21 |