Incidental Mutation 'IGL01705:Anks3'
| ID |
104560 |
| 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 # |
IGL01705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4759300-4782069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4765587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 172
(W172R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023157]
[ENSMUST00000229017]
[ENSMUST00000229765]
|
| AlphaFold |
Q9CZK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023157
AA Change: W347R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: W347R
| 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
AA Change: W172R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229272
AA Change: W51R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229477
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229765
AA Change: W347R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230466
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231036
AA Change: W5R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230493
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,166,038 (GRCm39) |
T1077A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,396,515 (GRCm39) |
V2504A |
possibly damaging |
Het |
| Asap2 |
T |
A |
12: 21,299,369 (GRCm39) |
N633K |
possibly damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,883 (GRCm39) |
S326C |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,736 (GRCm39) |
K900E |
possibly damaging |
Het |
| Cd5 |
A |
T |
19: 10,703,659 (GRCm39) |
|
probably null |
Het |
| D130043K22Rik |
T |
A |
13: 25,041,924 (GRCm39) |
N284K |
probably benign |
Het |
| Dtna |
C |
T |
18: 23,678,788 (GRCm39) |
A38V |
probably damaging |
Het |
| Eny2 |
C |
A |
15: 44,295,831 (GRCm39) |
|
probably null |
Het |
| Grm5 |
A |
G |
7: 87,779,254 (GRCm39) |
Q930R |
possibly damaging |
Het |
| Igkv4-73 |
A |
T |
6: 69,174,709 (GRCm39) |
|
noncoding transcript |
Het |
| Lama2 |
A |
T |
10: 27,065,270 (GRCm39) |
|
probably benign |
Het |
| Lipg |
A |
G |
18: 75,081,042 (GRCm39) |
|
probably null |
Het |
| Neto2 |
T |
C |
8: 86,367,632 (GRCm39) |
K371E |
probably damaging |
Het |
| Or8g52 |
T |
C |
9: 39,630,877 (GRCm39) |
M118T |
possibly damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,813,876 (GRCm39) |
F834L |
probably benign |
Het |
| Paxip1 |
A |
T |
5: 27,953,857 (GRCm39) |
S946R |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,879 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,308,401 (GRCm39) |
L331P |
probably damaging |
Het |
| Reep1 |
A |
G |
6: 71,750,272 (GRCm39) |
T95A |
probably damaging |
Het |
| Rfx2 |
A |
G |
17: 57,092,303 (GRCm39) |
Y332H |
possibly damaging |
Het |
| Smchd1 |
A |
T |
17: 71,688,393 (GRCm39) |
D1288E |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,930,046 (GRCm39) |
M582V |
probably benign |
Het |
| Susd1 |
A |
G |
4: 59,332,931 (GRCm39) |
|
probably benign |
Het |
| Syt9 |
T |
G |
7: 107,035,559 (GRCm39) |
L192R |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,473 (GRCm39) |
K478R |
probably benign |
Het |
| Tmem115 |
G |
T |
9: 107,412,403 (GRCm39) |
L242F |
probably benign |
Het |
| Tmt1b |
T |
A |
10: 128,794,731 (GRCm39) |
I198F |
probably benign |
Het |
| Tnfaip1 |
T |
C |
11: 78,416,294 (GRCm39) |
D263G |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,884 (GRCm39) |
I69F |
probably damaging |
Het |
| Vps52 |
T |
C |
17: 34,185,042 (GRCm39) |
L712P |
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 |
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation