Incidental Mutation 'R0932:Anks3'
| ID |
81004 |
| 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 |
039076-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0932 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4759300-4782069 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4771691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 111
(R111H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023157]
[ENSMUST00000229017]
[ENSMUST00000229765]
|
| AlphaFold |
Q9CZK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023157
AA Change: R234H
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000023157
Gene: ENSMUSG00000022515
AA Change: R234H
| 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 damaging
Transcript: ENSMUST00000229017
AA Change: R111H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229765
AA Change: R234H
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230083
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230493
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230721
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230771
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.2%
- 20x: 97.1%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
C |
16: 90,852,995 (GRCm39) |
N47S |
probably benign |
Het |
| AA986860 |
T |
C |
1: 130,665,430 (GRCm39) |
|
probably null |
Het |
| Akap9 |
T |
A |
5: 4,096,492 (GRCm39) |
C2456S |
possibly damaging |
Het |
| Atp1a3 |
A |
T |
7: 24,687,401 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
T |
C |
2: 118,746,408 (GRCm39) |
L9P |
probably damaging |
Het |
| Capn12 |
T |
C |
7: 28,587,123 (GRCm39) |
V364A |
possibly damaging |
Het |
| Cds1 |
T |
A |
5: 101,944,891 (GRCm39) |
C122S |
probably damaging |
Het |
| Cenpc1 |
T |
C |
5: 86,185,459 (GRCm39) |
T351A |
possibly damaging |
Het |
| Cuzd1 |
T |
C |
7: 130,921,923 (GRCm39) |
|
probably benign |
Het |
| Daxx |
T |
C |
17: 34,129,635 (GRCm39) |
L72P |
probably damaging |
Het |
| Depdc1b |
A |
G |
13: 108,523,369 (GRCm39) |
I415V |
probably benign |
Het |
| Dlg2 |
T |
C |
7: 92,024,845 (GRCm39) |
V675A |
probably damaging |
Het |
| Dtx4 |
A |
G |
19: 12,469,515 (GRCm39) |
V204A |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,288,610 (GRCm39) |
V872A |
probably damaging |
Het |
| Gm14403 |
A |
T |
2: 177,198,810 (GRCm39) |
R38W |
probably benign |
Het |
| Gm4553 |
T |
C |
7: 141,719,423 (GRCm39) |
S2G |
unknown |
Het |
| Gm8159 |
G |
A |
14: 4,635,226 (GRCm38) |
R148H |
possibly damaging |
Het |
| Gsdmc3 |
T |
C |
15: 63,730,400 (GRCm39) |
|
probably null |
Het |
| Ibtk |
C |
T |
9: 85,617,099 (GRCm39) |
G158R |
probably damaging |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kctd7 |
A |
T |
5: 130,180,510 (GRCm39) |
|
probably null |
Het |
| Kdr |
T |
C |
5: 76,129,465 (GRCm39) |
T141A |
probably benign |
Het |
| Krt25 |
T |
A |
11: 99,212,109 (GRCm39) |
Q176L |
possibly damaging |
Het |
| Krt71 |
T |
C |
15: 101,645,195 (GRCm39) |
N372S |
probably benign |
Het |
| Mllt3 |
A |
G |
4: 87,707,621 (GRCm39) |
V446A |
probably damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,903 (GRCm39) |
Y218* |
probably null |
Het |
| Or4k38 |
A |
T |
2: 111,165,543 (GRCm39) |
D293E |
probably benign |
Het |
| Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,397 (GRCm39) |
T158P |
possibly damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,540 (GRCm39) |
V200A |
possibly damaging |
Het |
| Poldip2 |
T |
C |
11: 78,403,294 (GRCm39) |
S18P |
possibly damaging |
Het |
| Ptprd |
T |
G |
4: 76,055,122 (GRCm39) |
Q193P |
probably damaging |
Het |
| Reck |
C |
T |
4: 43,922,838 (GRCm39) |
T371M |
possibly damaging |
Het |
| Rnf144b |
G |
T |
13: 47,374,001 (GRCm39) |
R66L |
probably null |
Het |
| Rpn2 |
T |
A |
2: 157,125,691 (GRCm39) |
D67E |
possibly damaging |
Het |
| Scn11a |
A |
G |
9: 119,636,876 (GRCm39) |
F275S |
probably damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,838,805 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,264,658 (GRCm39) |
I253T |
probably damaging |
Het |
| Tppp2 |
C |
T |
14: 52,157,881 (GRCm39) |
|
probably benign |
Het |
| Usp9y |
A |
C |
Y: 1,315,930 (GRCm39) |
N2068K |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,478,380 (GRCm39) |
C536R |
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 |
|
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 |
|
|
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'- ACACTGCTCTCTGTGGTAAGGTCTG -3'
(R):5'- CTGCAAGATGGCTTGGTGACTACTC -3'
Sequencing Primer
(F):5'- AAGGTCTGTATCTCTCTGGCCC -3'
(R):5'- GAAATGTTACCAGACCTTCTCG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation