Incidental Mutation 'R3940:Ankrd16'
ID |
307398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ankrd16
|
Ensembl Gene |
ENSMUSG00000047909 |
Gene Name |
ankyrin repeat domain 16 |
Synonyms |
D430029B21Rik, 2810455F06Rik |
MMRRC Submission |
040922-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R3940 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
11782687-11795140 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 11789192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 260
(C260R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056108]
[ENSMUST00000133664]
[ENSMUST00000156067]
|
AlphaFold |
A2AS55 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056108
AA Change: C260R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052056 Gene: ENSMUSG00000047909 AA Change: C260R
Domain | Start | End | E-Value | Type |
ANK
|
36 |
66 |
1.15e0 |
SMART |
ANK
|
70 |
99 |
7.95e-4 |
SMART |
ANK
|
103 |
132 |
1.59e-3 |
SMART |
ANK
|
136 |
167 |
1.74e0 |
SMART |
ANK
|
170 |
200 |
7.71e-2 |
SMART |
ANK
|
204 |
233 |
5.01e-1 |
SMART |
ANK
|
238 |
268 |
1.37e2 |
SMART |
ANK
|
273 |
302 |
7.53e-5 |
SMART |
ANK
|
306 |
336 |
4.07e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125024
|
Predicted Effect |
unknown
Transcript: ENSMUST00000128774
AA Change: C30R
|
SMART Domains |
Protein: ENSMUSP00000121218 Gene: ENSMUSG00000047909 AA Change: C30R
Domain | Start | End | E-Value | Type |
Pfam:Ank_4
|
10 |
65 |
1e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133664
|
SMART Domains |
Protein: ENSMUSP00000115226 Gene: ENSMUSG00000047909
Domain | Start | End | E-Value | Type |
Pfam:Ank
|
1 |
29 |
1.5e-3 |
PFAM |
Pfam:Ank_4
|
1 |
51 |
7.3e-11 |
PFAM |
Pfam:Ank_2
|
1 |
56 |
8.9e-11 |
PFAM |
Pfam:Ank_5
|
18 |
56 |
1.8e-6 |
PFAM |
Pfam:Ank
|
30 |
55 |
3e-5 |
PFAM |
Pfam:Ank_3
|
30 |
55 |
2.7e-3 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142622
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148498
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150213
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194100
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150320
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156067
|
SMART Domains |
Protein: ENSMUSP00000115525 Gene: ENSMUSG00000047909
Domain | Start | End | E-Value | Type |
ANK
|
36 |
66 |
1.15e0 |
SMART |
ANK
|
70 |
99 |
7.95e-4 |
SMART |
ANK
|
103 |
132 |
1.59e-3 |
SMART |
ANK
|
136 |
165 |
9.46e1 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
95% (35/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Acsm3 |
A |
G |
7: 119,373,109 (GRCm39) |
E204G |
probably benign |
Het |
Acta2 |
A |
T |
19: 34,220,880 (GRCm39) |
I276N |
possibly damaging |
Het |
Ankrd42 |
T |
C |
7: 92,240,996 (GRCm39) |
|
probably null |
Het |
Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
Calm5 |
A |
T |
13: 3,904,485 (GRCm39) |
I37F |
possibly damaging |
Het |
Casq1 |
A |
G |
1: 172,047,103 (GRCm39) |
V52A |
possibly damaging |
Het |
Col22a1 |
A |
T |
15: 71,853,782 (GRCm39) |
L260* |
probably null |
Het |
Cttnbp2 |
C |
A |
6: 18,420,974 (GRCm39) |
V846L |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,444,754 (GRCm39) |
T627A |
probably benign |
Het |
Eogt |
T |
C |
6: 97,090,875 (GRCm39) |
I421M |
probably damaging |
Het |
Fam135a |
T |
A |
1: 24,096,556 (GRCm39) |
H63L |
probably damaging |
Het |
Fmo3 |
T |
A |
1: 162,791,555 (GRCm39) |
T241S |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,341,649 (GRCm39) |
I1314T |
possibly damaging |
Het |
Gm14393 |
T |
C |
2: 174,903,420 (GRCm39) |
|
probably null |
Het |
Kcna5 |
C |
T |
6: 126,510,614 (GRCm39) |
V505I |
probably damaging |
Het |
Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
Neto2 |
G |
A |
8: 86,400,747 (GRCm39) |
T16I |
probably damaging |
Het |
Or7a41 |
T |
A |
10: 78,871,038 (GRCm39) |
I136N |
probably damaging |
Het |
Or8k40 |
T |
A |
2: 86,584,275 (GRCm39) |
D269V |
possibly damaging |
Het |
Pcdhb7 |
T |
C |
18: 37,477,021 (GRCm39) |
L719P |
probably damaging |
Het |
Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
Pik3ip1 |
A |
G |
11: 3,281,987 (GRCm39) |
N48S |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,499,672 (GRCm39) |
S951L |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,376,474 (GRCm39) |
H772R |
possibly damaging |
Het |
Ric1 |
T |
C |
19: 29,548,162 (GRCm39) |
Y277H |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rnf123 |
A |
T |
9: 107,941,234 (GRCm39) |
|
probably benign |
Het |
Robo1 |
T |
C |
16: 72,806,631 (GRCm39) |
S1166P |
probably benign |
Het |
S100a10 |
A |
G |
3: 93,468,383 (GRCm39) |
E38G |
probably benign |
Het |
Slc34a1 |
A |
T |
13: 55,560,983 (GRCm39) |
I483F |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,084,848 (GRCm39) |
N600S |
probably benign |
Het |
Ube3c |
T |
A |
5: 29,824,358 (GRCm39) |
N517K |
probably benign |
Het |
|
Other mutations in Ankrd16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01663:Ankrd16
|
APN |
2 |
11,783,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R0280:Ankrd16
|
UTSW |
2 |
11,786,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R0521:Ankrd16
|
UTSW |
2 |
11,794,692 (GRCm39) |
missense |
probably benign |
|
R1441:Ankrd16
|
UTSW |
2 |
11,783,557 (GRCm39) |
missense |
probably damaging |
1.00 |
R1699:Ankrd16
|
UTSW |
2 |
11,789,204 (GRCm39) |
missense |
probably benign |
|
R1858:Ankrd16
|
UTSW |
2 |
11,783,407 (GRCm39) |
missense |
probably benign |
|
R1944:Ankrd16
|
UTSW |
2 |
11,788,443 (GRCm39) |
splice site |
probably null |
|
R2074:Ankrd16
|
UTSW |
2 |
11,794,559 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2104:Ankrd16
|
UTSW |
2 |
11,784,711 (GRCm39) |
intron |
probably benign |
|
R2131:Ankrd16
|
UTSW |
2 |
11,788,506 (GRCm39) |
missense |
probably damaging |
1.00 |
R3847:Ankrd16
|
UTSW |
2 |
11,794,619 (GRCm39) |
missense |
probably benign |
0.04 |
R4424:Ankrd16
|
UTSW |
2 |
11,789,215 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4707:Ankrd16
|
UTSW |
2 |
11,783,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Ankrd16
|
UTSW |
2 |
11,789,127 (GRCm39) |
missense |
probably benign |
0.05 |
R5026:Ankrd16
|
UTSW |
2 |
11,794,692 (GRCm39) |
missense |
probably benign |
0.05 |
R5079:Ankrd16
|
UTSW |
2 |
11,783,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R5251:Ankrd16
|
UTSW |
2 |
11,783,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R5304:Ankrd16
|
UTSW |
2 |
11,794,545 (GRCm39) |
missense |
probably benign |
|
R5746:Ankrd16
|
UTSW |
2 |
11,789,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R6932:Ankrd16
|
UTSW |
2 |
11,791,054 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6958:Ankrd16
|
UTSW |
2 |
11,784,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R9228:Ankrd16
|
UTSW |
2 |
11,786,318 (GRCm39) |
missense |
probably benign |
0.00 |
R9259:Ankrd16
|
UTSW |
2 |
11,784,532 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1088:Ankrd16
|
UTSW |
2 |
11,784,629 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GATCACATTTCCCTTGAAGTCC -3'
(R):5'- AAGACTGAGAATCACAGGCATTTC -3'
Sequencing Primer
(F):5'- CCTTGAAGTCCTTTGAGAACCAG -3'
(R):5'- GAATCACAGGCATTTCAGGAATATAG -3'
|
Posted On |
2015-04-17 |