Incidental Mutation 'R2323:Anks3'
| ID |
244820 |
| 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 |
040314-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4759300-4782069 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 4768634 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 null
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 |
probably benign
Transcript: ENSMUST00000229272
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230493
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230721
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
| Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
| Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
| Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
| Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
| Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
| Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
| Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
| Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
| Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
| Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
| Vmn1r234 |
T |
C |
17: 21,449,965 (GRCm39) |
I293T |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
probably null |
Het |
| Zscan18 |
T |
C |
7: 12,509,386 (GRCm39) |
|
probably benign |
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 |
|
R0855:Anks3
|
UTSW |
16 |
4,773,811 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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'- AACCGTGGCTCTCACCATAG -3'
(R):5'- CTGGAGAGATGACTCAGTAGC -3'
Sequencing Primer
(F):5'- CATAGGTGGTCTGAGTCTTCCC -3'
(R):5'- TACACAGACACATGGCCT -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation