Incidental Mutation 'IGL03148:Ankrd9'
| ID |
410976 |
| 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 # |
IGL03148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
110942854-110945516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 110943293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 214
(E214G)
|
| 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 benign
Transcript: ENSMUST00000043459
AA Change: E214G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048823
Gene: ENSMUSG00000037904
AA Change: E214G
| 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: ENSMUST00000128353
AA Change: E214G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000120816
Gene: ENSMUSG00000037904
AA Change: E214G
| 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: ENSMUST00000135131
AA Change: E214G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119339
Gene: ENSMUSG00000037904
AA Change: E214G
| 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: ENSMUST00000140788
AA Change: E214G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121279
Gene: ENSMUSG00000037904
AA Change: E214G
| 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: ENSMUST00000142012
AA Change: E247G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000121536
Gene: ENSMUSG00000037904
AA Change: E247G
| 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 benign
Transcript: ENSMUST00000148765
AA Change: E214G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123239
Gene: ENSMUSG00000037904
AA Change: E214G
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
G |
11: 99,728,079 (GRCm39) |
S255P |
unknown |
Het |
| Adamtsl2 |
T |
A |
2: 26,974,071 (GRCm39) |
Y125N |
probably damaging |
Het |
| Bhmt2 |
T |
A |
13: 93,803,161 (GRCm39) |
D124V |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,317,874 (GRCm39) |
H271R |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,276,925 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,755,588 (GRCm39) |
I234F |
probably benign |
Het |
| Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,278,062 (GRCm39) |
C995Y |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,144 (GRCm39) |
E252G |
probably damaging |
Het |
| Dhrs1 |
A |
T |
14: 55,978,748 (GRCm39) |
Y133* |
probably null |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,518,075 (GRCm39) |
I1300V |
probably benign |
Het |
| Efcab12 |
T |
C |
6: 115,787,952 (GRCm39) |
Y670C |
probably damaging |
Het |
| Frg1 |
T |
G |
8: 41,864,321 (GRCm39) |
K66N |
probably benign |
Het |
| Gbp2b |
C |
A |
3: 142,312,642 (GRCm39) |
H342N |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
| Kcnh1 |
T |
G |
1: 191,959,307 (GRCm39) |
I287S |
probably damaging |
Het |
| Map1b |
A |
G |
13: 99,578,203 (GRCm39) |
L150P |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,457,045 (GRCm39) |
R1299Q |
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,073,971 (GRCm39) |
N407D |
probably damaging |
Het |
| Mcemp1 |
T |
A |
8: 3,717,390 (GRCm39) |
|
probably null |
Het |
| Nav1 |
A |
C |
1: 135,397,762 (GRCm39) |
N802K |
possibly damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,831 (GRCm39) |
N601K |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,172,053 (GRCm39) |
H564L |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,188,185 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2a |
G |
T |
14: 67,259,744 (GRCm39) |
N317K |
probably benign |
Het |
| Pramel47 |
A |
G |
5: 95,489,177 (GRCm39) |
T207A |
possibly damaging |
Het |
| Rars2 |
A |
T |
4: 34,650,243 (GRCm39) |
I343F |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,355,833 (GRCm39) |
F4092S |
probably damaging |
Het |
| Tcp11 |
A |
G |
17: 28,289,444 (GRCm39) |
V209A |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,187,124 (GRCm39) |
S1102G |
probably benign |
Het |
|
| Other mutations in Ankrd9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01722:Ankrd9
|
APN |
12 |
110,943,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation