Incidental Mutation 'R0891:Ankrd45'
ID |
83490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd45
|
Ensembl Gene |
ENSMUSG00000044835 |
Gene Name |
ankyrin repeat domain 45 |
Synonyms |
4933409K03Rik |
MMRRC Submission |
039054-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0891 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
160970261-160998068 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 160982906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 139
(N139S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117977
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052245]
[ENSMUST00000111608]
[ENSMUST00000125018]
[ENSMUST00000135643]
[ENSMUST00000150721]
[ENSMUST00000178511]
[ENSMUST00000192384]
|
AlphaFold |
Q810N6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052245
AA Change: N173S
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000059923 Gene: ENSMUSG00000044835 AA Change: N173S
Domain | Start | End | E-Value | Type |
low complexity region
|
27 |
65 |
N/A |
INTRINSIC |
ANK
|
109 |
138 |
1.57e-2 |
SMART |
ANK
|
142 |
171 |
2.45e-4 |
SMART |
Blast:ANK
|
175 |
201 |
1e-5 |
BLAST |
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111608
AA Change: N139S
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107235 Gene: ENSMUSG00000044835 AA Change: N139S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
31 |
N/A |
INTRINSIC |
ANK
|
75 |
104 |
1.57e-2 |
SMART |
ANK
|
108 |
137 |
2.45e-4 |
SMART |
Blast:ANK
|
141 |
167 |
1e-5 |
BLAST |
low complexity region
|
168 |
182 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125018
AA Change: N139S
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117977 Gene: ENSMUSG00000044835 AA Change: N139S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
31 |
N/A |
INTRINSIC |
ANK
|
75 |
104 |
1.57e-2 |
SMART |
ANK
|
108 |
137 |
2.45e-4 |
SMART |
Blast:ANK
|
141 |
167 |
9e-6 |
BLAST |
low complexity region
|
168 |
182 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135643
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150721
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178511
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192384
|
Meta Mutation Damage Score |
0.0632 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 92.2%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,884,156 (GRCm39) |
N567K |
possibly damaging |
Het |
Afap1 |
G |
A |
5: 36,119,196 (GRCm39) |
|
probably null |
Het |
Angel2 |
G |
T |
1: 190,677,270 (GRCm39) |
K517N |
possibly damaging |
Het |
Ankrd36 |
A |
G |
11: 5,637,316 (GRCm39) |
E1295G |
possibly damaging |
Het |
Ano3 |
T |
C |
2: 110,528,321 (GRCm39) |
T498A |
probably benign |
Het |
Arhgap12 |
T |
C |
18: 6,026,699 (GRCm39) |
T720A |
probably damaging |
Het |
Brd10 |
G |
A |
19: 29,695,053 (GRCm39) |
T1547I |
probably damaging |
Het |
Brsk1 |
A |
G |
7: 4,707,226 (GRCm39) |
S260G |
possibly damaging |
Het |
Calml3 |
A |
G |
13: 3,853,926 (GRCm39) |
F93S |
probably damaging |
Het |
Ccnf |
G |
T |
17: 24,445,751 (GRCm39) |
H498Q |
possibly damaging |
Het |
Col27a1 |
A |
C |
4: 63,223,420 (GRCm39) |
|
probably null |
Het |
Cpne5 |
A |
G |
17: 29,421,893 (GRCm39) |
|
probably benign |
Het |
Dcst1 |
G |
A |
3: 89,260,584 (GRCm39) |
T560I |
probably benign |
Het |
Fndc7 |
A |
G |
3: 108,777,904 (GRCm39) |
Y351H |
possibly damaging |
Het |
Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
Kcnh8 |
A |
T |
17: 53,212,242 (GRCm39) |
D680V |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,750,572 (GRCm39) |
|
probably benign |
Het |
Lrrfip1 |
T |
A |
1: 90,996,337 (GRCm39) |
I50N |
probably damaging |
Het |
Mbip |
A |
T |
12: 56,387,242 (GRCm39) |
D132E |
possibly damaging |
Het |
Nipal3 |
A |
T |
4: 135,195,898 (GRCm39) |
I235N |
possibly damaging |
Het |
Nup93 |
T |
A |
8: 95,007,891 (GRCm39) |
|
probably benign |
Het |
Or6b13 |
A |
G |
7: 139,782,372 (GRCm39) |
Y104H |
probably damaging |
Het |
Or6z6 |
T |
A |
7: 6,491,471 (GRCm39) |
Y134F |
probably damaging |
Het |
Pgbd1 |
T |
C |
13: 21,606,970 (GRCm39) |
Y408C |
probably damaging |
Het |
Pigo |
G |
A |
4: 43,020,519 (GRCm39) |
Q808* |
probably null |
Het |
Pik3r1 |
A |
T |
13: 101,837,974 (GRCm39) |
N299K |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,972,831 (GRCm39) |
|
probably benign |
Het |
Semp2l1 |
T |
A |
1: 32,585,442 (GRCm39) |
H156L |
possibly damaging |
Het |
Septin5 |
G |
C |
16: 18,443,595 (GRCm39) |
T118R |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,638,015 (GRCm39) |
V483A |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,029,421 (GRCm39) |
D948G |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,813,476 (GRCm39) |
V442E |
possibly damaging |
Het |
Zfp57 |
A |
G |
17: 37,317,068 (GRCm39) |
K46E |
probably damaging |
Het |
|
Other mutations in Ankrd45 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02111:Ankrd45
|
APN |
1 |
160,990,921 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03190:Ankrd45
|
APN |
1 |
160,990,909 (GRCm39) |
missense |
probably benign |
0.01 |
R1933:Ankrd45
|
UTSW |
1 |
160,978,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Ankrd45
|
UTSW |
1 |
160,982,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R4884:Ankrd45
|
UTSW |
1 |
160,988,270 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4888:Ankrd45
|
UTSW |
1 |
160,982,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R4989:Ankrd45
|
UTSW |
1 |
160,982,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Ankrd45
|
UTSW |
1 |
160,986,682 (GRCm39) |
intron |
probably benign |
|
R7081:Ankrd45
|
UTSW |
1 |
160,978,863 (GRCm39) |
missense |
probably benign |
0.00 |
R8110:Ankrd45
|
UTSW |
1 |
160,978,889 (GRCm39) |
critical splice donor site |
probably null |
|
Z1176:Ankrd45
|
UTSW |
1 |
160,990,853 (GRCm39) |
missense |
possibly damaging |
0.76 |
Z1177:Ankrd45
|
UTSW |
1 |
160,988,322 (GRCm39) |
missense |
possibly damaging |
0.62 |
Z1177:Ankrd45
|
UTSW |
1 |
160,988,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATCTGCTGCATAAGAGAGTCTGGAA -3'
(R):5'- GCTGGAAGGCAGAAATGTCACTCCTA -3'
Sequencing Primer
(F):5'- gctgttgcccattattgcc -3'
(R):5'- GGCAGAAATGTCACTCCTATCATTC -3'
|
Posted On |
2013-11-08 |