Incidental Mutation 'R4605:Ankra2'
ID |
345976 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankra2
|
Ensembl Gene |
ENSMUSG00000021661 |
Gene Name |
ankyrin repeat family A member 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.275)
|
Stock # |
R4605 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
98399584-98411262 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 98402742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153417
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022164]
[ENSMUST00000040972]
[ENSMUST00000091356]
[ENSMUST00000123924]
[ENSMUST00000150352]
[ENSMUST00000150916]
[ENSMUST00000226100]
|
AlphaFold |
Q99PE2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022164
|
SMART Domains |
Protein: ENSMUSP00000022164 Gene: ENSMUSG00000021661
Domain | Start | End | E-Value | Type |
ANK
|
180 |
209 |
1.45e-6 |
SMART |
ANK
|
213 |
242 |
1.05e-3 |
SMART |
ANK
|
246 |
275 |
1.76e-5 |
SMART |
Blast:ANK
|
279 |
308 |
1e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000040972
|
SMART Domains |
Protein: ENSMUSP00000048204 Gene: ENSMUSG00000041747
Domain | Start | End | E-Value | Type |
WD40
|
31 |
66 |
6.85e1 |
SMART |
WD40
|
69 |
108 |
1.66e-5 |
SMART |
WD40
|
111 |
150 |
2.82e-8 |
SMART |
WD40
|
153 |
193 |
7.33e-7 |
SMART |
WD40
|
196 |
233 |
3.9e-2 |
SMART |
WD40
|
237 |
276 |
1.39e-7 |
SMART |
WD40
|
279 |
317 |
1.7e2 |
SMART |
Pfam:UTP15_C
|
343 |
490 |
3.5e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091356
|
SMART Domains |
Protein: ENSMUSP00000088915 Gene: ENSMUSG00000021661
Domain | Start | End | E-Value | Type |
ANK
|
20 |
49 |
1.45e-6 |
SMART |
ANK
|
53 |
82 |
1.05e-3 |
SMART |
ANK
|
86 |
115 |
1.76e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123924
|
SMART Domains |
Protein: ENSMUSP00000122701 Gene: ENSMUSG00000021661
Domain | Start | End | E-Value | Type |
ANK
|
180 |
209 |
1.45e-6 |
SMART |
ANK
|
213 |
242 |
1.05e-3 |
SMART |
ANK
|
246 |
275 |
1.76e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150352
|
SMART Domains |
Protein: ENSMUSP00000117508 Gene: ENSMUSG00000021661
Domain | Start | End | E-Value | Type |
ANK
|
180 |
209 |
1.45e-6 |
SMART |
ANK
|
213 |
242 |
1.05e-3 |
SMART |
ANK
|
246 |
275 |
1.76e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150916
|
SMART Domains |
Protein: ENSMUSP00000116590 Gene: ENSMUSG00000021661
Domain | Start | End | E-Value | Type |
ANK
|
20 |
49 |
1.45e-6 |
SMART |
ANK
|
53 |
82 |
1.05e-3 |
SMART |
ANK
|
86 |
115 |
1.76e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155629
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224842
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226100
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223606
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(3) : Targeted(2) Gene trapped(1)
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp9b |
T |
A |
18: 80,796,364 (GRCm39) |
|
probably null |
Het |
Birc6 |
G |
A |
17: 74,946,929 (GRCm39) |
D2885N |
probably damaging |
Het |
Chaf1b |
A |
T |
16: 93,684,977 (GRCm39) |
N142I |
possibly damaging |
Het |
Ckap5 |
G |
A |
2: 91,406,559 (GRCm39) |
G787S |
probably damaging |
Het |
Ctc1 |
G |
T |
11: 68,920,552 (GRCm39) |
C372F |
possibly damaging |
Het |
Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
Epha10 |
A |
G |
4: 124,779,550 (GRCm39) |
E132G |
probably damaging |
Het |
Extl1 |
A |
G |
4: 134,087,145 (GRCm39) |
V471A |
probably benign |
Het |
Fgd6 |
T |
C |
10: 93,880,217 (GRCm39) |
L357P |
probably benign |
Het |
Gapvd1 |
A |
T |
2: 34,618,549 (GRCm39) |
C275S |
probably damaging |
Het |
Kcnj2 |
G |
A |
11: 110,963,676 (GRCm39) |
C356Y |
probably damaging |
Het |
Kcnk10 |
T |
C |
12: 98,456,219 (GRCm39) |
D204G |
probably damaging |
Het |
Krtap9-1 |
A |
C |
11: 99,764,579 (GRCm39) |
E105A |
unknown |
Het |
Loxhd1 |
G |
A |
18: 77,493,642 (GRCm39) |
V668I |
probably benign |
Het |
Ly86 |
T |
C |
13: 37,558,987 (GRCm39) |
I62T |
possibly damaging |
Het |
Maip1 |
A |
G |
1: 57,450,891 (GRCm39) |
I178V |
probably benign |
Het |
Mical3 |
G |
A |
6: 121,011,041 (GRCm39) |
Q386* |
probably null |
Het |
Or5an11 |
T |
C |
19: 12,246,532 (GRCm39) |
*313Q |
probably null |
Het |
Or5b107 |
T |
A |
19: 13,142,612 (GRCm39) |
V78D |
probably damaging |
Het |
Or5p52 |
A |
C |
7: 107,502,445 (GRCm39) |
I174L |
probably benign |
Het |
Or8j3b |
G |
A |
2: 86,205,141 (GRCm39) |
T205I |
probably benign |
Het |
Pcdha12 |
T |
C |
18: 37,154,576 (GRCm39) |
S432P |
probably damaging |
Het |
Prex1 |
A |
T |
2: 166,555,464 (GRCm39) |
Y59N |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,187,684 (GRCm39) |
F654L |
probably damaging |
Het |
Sh2d5 |
T |
A |
4: 137,984,566 (GRCm39) |
Y187* |
probably null |
Het |
Slc9a4 |
T |
C |
1: 40,640,195 (GRCm39) |
|
probably null |
Het |
Smyd2 |
A |
G |
1: 189,629,623 (GRCm39) |
S136P |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,722,267 (GRCm39) |
K971R |
probably benign |
Het |
Srsf11 |
A |
T |
3: 157,728,560 (GRCm39) |
L115* |
probably null |
Het |
Tbx19 |
C |
T |
1: 164,981,153 (GRCm39) |
V114I |
possibly damaging |
Het |
Unc5b |
A |
G |
10: 60,610,182 (GRCm39) |
V545A |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,642,998 (GRCm39) |
Y4120C |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
Zkscan2 |
A |
T |
7: 123,097,947 (GRCm39) |
W150R |
probably damaging |
Het |
|
Other mutations in Ankra2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02168:Ankra2
|
APN |
13 |
98,409,882 (GRCm39) |
splice site |
probably benign |
|
IGL02807:Ankra2
|
APN |
13 |
98,408,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03030:Ankra2
|
APN |
13 |
98,409,881 (GRCm39) |
splice site |
probably benign |
|
R0068:Ankra2
|
UTSW |
13 |
98,409,891 (GRCm39) |
nonsense |
probably null |
|
R0068:Ankra2
|
UTSW |
13 |
98,409,891 (GRCm39) |
nonsense |
probably null |
|
R0302:Ankra2
|
UTSW |
13 |
98,408,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:Ankra2
|
UTSW |
13 |
98,402,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Ankra2
|
UTSW |
13 |
98,408,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Ankra2
|
UTSW |
13 |
98,407,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R2185:Ankra2
|
UTSW |
13 |
98,402,912 (GRCm39) |
missense |
probably damaging |
0.99 |
R2230:Ankra2
|
UTSW |
13 |
98,407,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R2232:Ankra2
|
UTSW |
13 |
98,407,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R3898:Ankra2
|
UTSW |
13 |
98,410,317 (GRCm39) |
missense |
probably benign |
0.13 |
R4855:Ankra2
|
UTSW |
13 |
98,409,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R5806:Ankra2
|
UTSW |
13 |
98,405,005 (GRCm39) |
critical splice donor site |
probably null |
|
R5901:Ankra2
|
UTSW |
13 |
98,407,644 (GRCm39) |
missense |
probably damaging |
0.99 |
R6478:Ankra2
|
UTSW |
13 |
98,404,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Ankra2
|
UTSW |
13 |
98,402,882 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Ankra2
|
UTSW |
13 |
98,408,785 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
|
Posted On |
2015-09-25 |