Incidental Mutation 'IGL03126:Anks3'
| ID |
410162 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anks3
|
| Ensembl Gene |
ENSMUSG00000022515 |
| Gene Name |
ankyrin repeat and sterile alpha motif domain containing 3 |
| Synonyms |
2700067D09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4759300-4782069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4775891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 104
(T104A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023157]
[ENSMUST00000229017]
[ENSMUST00000229765]
|
| AlphaFold |
Q9CZK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023157
AA Change: T104A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: T104A
| 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 damaging
Transcript: ENSMUST00000229765
AA Change: T104A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,617,563 (GRCm39) |
N562S |
probably benign |
Het |
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,232,403 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Akr1c21 |
T |
C |
13: 4,627,457 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,224 (GRCm39) |
Y129C |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,391,207 (GRCm39) |
K875I |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,067,127 (GRCm39) |
V15A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,633,915 (GRCm39) |
|
probably null |
Het |
| Elmo3 |
C |
A |
8: 106,033,013 (GRCm39) |
R66S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,779,717 (GRCm39) |
S565P |
probably benign |
Het |
| Epn1 |
C |
A |
7: 5,098,684 (GRCm39) |
A370E |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,730,184 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
G |
6: 92,042,145 (GRCm39) |
L1034R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,573,135 (GRCm39) |
V567A |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| H3c3 |
T |
C |
13: 23,929,425 (GRCm39) |
K19R |
possibly damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,503 (GRCm39) |
F38S |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,703 (GRCm39) |
V712A |
possibly damaging |
Het |
| Mep1b |
T |
C |
18: 21,221,617 (GRCm39) |
F189S |
probably damaging |
Het |
| Mill1 |
T |
C |
7: 17,989,832 (GRCm39) |
V38A |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,766,398 (GRCm39) |
R13W |
possibly damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,290 (GRCm39) |
I333V |
probably benign |
Het |
| Numa1 |
G |
T |
7: 101,649,874 (GRCm39) |
E1202* |
probably null |
Het |
| Or3a1b |
C |
T |
11: 74,012,610 (GRCm39) |
A165V |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,945,276 (GRCm39) |
I102T |
probably benign |
Het |
| Oxr1 |
A |
T |
15: 41,683,645 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,698,198 (GRCm39) |
F130L |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,404,515 (GRCm39) |
S248R |
possibly damaging |
Het |
| Rgs19 |
A |
G |
2: 181,333,114 (GRCm39) |
S49P |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,495,075 (GRCm39) |
|
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,307,654 (GRCm39) |
F362L |
probably damaging |
Het |
| Slamf8 |
T |
C |
1: 172,411,736 (GRCm39) |
H253R |
possibly damaging |
Het |
| Tet3 |
C |
A |
6: 83,353,769 (GRCm39) |
R829L |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,996,652 (GRCm39) |
L420P |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,407,199 (GRCm39) |
*353Y |
probably null |
Het |
| Wbp1l |
A |
C |
19: 46,632,838 (GRCm39) |
D46A |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation