Incidental Mutation 'R0855:Anks3'
| ID |
82702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anks3
|
| Ensembl Gene |
ENSMUSG00000022515 |
| Gene Name |
ankyrin repeat and sterile alpha motif domain containing 3 |
| Synonyms |
2700067D09Rik |
| MMRRC Submission |
039034-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0855 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4759300-4782069 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 4773811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023157]
[ENSMUST00000229017]
[ENSMUST00000229765]
|
| AlphaFold |
Q9CZK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023157
|
| SMART Domains |
Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
34 |
64 |
1.25e2 |
SMART |
|
ANK
|
68 |
97 |
9.93e-5 |
SMART |
|
ANK
|
101 |
130 |
9.13e-4 |
SMART |
|
ANK
|
134 |
163 |
2.45e-4 |
SMART |
|
ANK
|
168 |
197 |
9.27e-5 |
SMART |
|
ANK
|
201 |
230 |
5.87e2 |
SMART |
|
SAM
|
421 |
487 |
9.8e-12 |
SMART |
|
coiled coil region
|
500 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229077
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230771
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
97% (35/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
A |
G |
18: 62,886,414 (GRCm39) |
|
noncoding transcript |
Het |
| Ak3 |
T |
C |
19: 29,000,345 (GRCm39) |
K189E |
probably benign |
Het |
| Ash1l |
C |
A |
3: 88,961,761 (GRCm39) |
H2378N |
possibly damaging |
Het |
| Baz1a |
A |
G |
12: 54,947,348 (GRCm39) |
|
probably benign |
Het |
| Bicra |
A |
G |
7: 15,705,929 (GRCm39) |
F1504S |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,119,950 (GRCm39) |
T353A |
possibly damaging |
Het |
| Btn1a1 |
C |
A |
13: 23,648,489 (GRCm39) |
V115F |
probably damaging |
Het |
| Cd38 |
T |
A |
5: 44,060,927 (GRCm39) |
|
probably null |
Het |
| Cep250 |
T |
C |
2: 155,806,031 (GRCm39) |
C109R |
probably damaging |
Het |
| Cnksr1 |
C |
T |
4: 133,960,377 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,273,724 (GRCm39) |
N3048I |
probably benign |
Het |
| Impdh1 |
T |
A |
6: 29,206,971 (GRCm39) |
H116L |
probably damaging |
Het |
| Kank4 |
C |
A |
4: 98,659,681 (GRCm39) |
W799L |
probably damaging |
Het |
| Kcnk7 |
C |
T |
19: 5,756,103 (GRCm39) |
H110Y |
probably benign |
Het |
| Mak |
T |
C |
13: 41,223,640 (GRCm39) |
E25G |
probably damaging |
Het |
| Mrpl54 |
G |
A |
10: 81,102,759 (GRCm39) |
|
probably benign |
Het |
| Myh10 |
A |
C |
11: 68,702,627 (GRCm39) |
D1767A |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ndufaf6 |
A |
T |
4: 11,051,169 (GRCm39) |
H310Q |
probably damaging |
Het |
| Osbpl6 |
G |
T |
2: 76,415,477 (GRCm39) |
G467V |
probably damaging |
Het |
| Osbpl6 |
A |
G |
2: 76,422,183 (GRCm39) |
E673G |
probably damaging |
Het |
| Picalm |
T |
A |
7: 89,840,356 (GRCm39) |
D458E |
possibly damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,752 (GRCm39) |
R294H |
probably benign |
Het |
| Prdm14 |
T |
A |
1: 13,195,761 (GRCm39) |
N100I |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,591,471 (GRCm39) |
T510A |
probably benign |
Het |
| Sars1 |
C |
A |
3: 108,334,248 (GRCm39) |
E503D |
probably benign |
Het |
| Smtn |
T |
C |
11: 3,471,880 (GRCm39) |
D853G |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,744,083 (GRCm39) |
T742A |
probably damaging |
Het |
| Tmem63a |
T |
C |
1: 180,788,625 (GRCm39) |
S321P |
possibly damaging |
Het |
| Trim24 |
T |
A |
6: 37,892,137 (GRCm39) |
C223* |
probably null |
Het |
| Usp48 |
T |
C |
4: 137,335,465 (GRCm39) |
F213L |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,761,670 (GRCm39) |
Y562* |
probably null |
Het |
|
| Other mutations in Anks3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Anks3
|
APN |
16 |
4,771,793 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01705:Anks3
|
APN |
16 |
4,765,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01953:Anks3
|
APN |
16 |
4,778,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Anks3
|
APN |
16 |
4,768,626 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03126:Anks3
|
APN |
16 |
4,775,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Anks3
|
UTSW |
16 |
4,765,613 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0051:Anks3
|
UTSW |
16 |
4,765,613 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0661:Anks3
|
UTSW |
16 |
4,766,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0932:Anks3
|
UTSW |
16 |
4,771,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Anks3
|
UTSW |
16 |
4,766,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1773:Anks3
|
UTSW |
16 |
4,765,158 (GRCm39) |
missense |
probably benign |
|
|
R1846:Anks3
|
UTSW |
16 |
4,771,748 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1928:Anks3
|
UTSW |
16 |
4,763,918 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2323:Anks3
|
UTSW |
16 |
4,768,634 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3916:Anks3
|
UTSW |
16 |
4,765,143 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5597:Anks3
|
UTSW |
16 |
4,771,793 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5993:Anks3
|
UTSW |
16 |
4,776,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7345:Anks3
|
UTSW |
16 |
4,773,774 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7373:Anks3
|
UTSW |
16 |
4,773,735 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8710:Anks3
|
UTSW |
16 |
4,775,976 (GRCm39) |
nonsense |
probably null |
|
|
R9629:Anks3
|
UTSW |
16 |
4,775,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9691:Anks3
|
UTSW |
16 |
4,759,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9698:Anks3
|
UTSW |
16 |
4,766,113 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Anks3
|
UTSW |
16 |
4,768,578 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCGGCACTGTACGAGTATCAGAG -3'
(R):5'- CCATGACTCCAGCAAGGTGGAAAG -3'
Sequencing Primer
(F):5'- cagttcccaaaaaacagactcc -3'
(R):5'- GAAAGGCAAAGATCAGCACC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation