Incidental Mutation 'R1441:Ankrd16'
| ID |
160982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd16
|
| Ensembl Gene |
ENSMUSG00000047909 |
| Gene Name |
ankyrin repeat domain 16 |
| Synonyms |
D430029B21Rik, 2810455F06Rik |
| MMRRC Submission |
039496-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R1441 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
11782687-11795140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11783557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 53
(L53P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056108]
[ENSMUST00000071564]
[ENSMUST00000130186]
[ENSMUST00000133664]
[ENSMUST00000156067]
|
| AlphaFold |
A2AS55 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056108
AA Change: L53P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052056
Gene: ENSMUSG00000047909
AA Change: L53P
| 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 |
probably benign
Transcript: ENSMUST00000071564
|
| SMART Domains |
Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
213 |
256 |
3.94e-3 |
SMART |
|
Pfam:UvrD-helicase
|
626 |
692 |
8e-10 |
PFAM |
|
Pfam:UvrD_C
|
862 |
935 |
1.7e-12 |
PFAM |
|
Pfam:UvrD_C_2
|
867 |
931 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126543
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130186
AA Change: L53P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141685
Gene: ENSMUSG00000047909
AA Change: L53P
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
36 |
66 |
7.2e-3 |
SMART |
|
Pfam:Ank
|
72 |
90 |
7.9e-3 |
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 |
probably damaging
Transcript: ENSMUST00000156067
AA Change: L53P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115525
Gene: ENSMUSG00000047909
AA Change: L53P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194100
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,481,194 (GRCm39) |
|
probably null |
Het |
| Arsk |
A |
T |
13: 76,223,083 (GRCm39) |
N171K |
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,867,351 (GRCm39) |
C161W |
probably damaging |
Het |
| Card9 |
T |
C |
2: 26,249,402 (GRCm39) |
N53S |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,642,515 (GRCm39) |
V403E |
probably benign |
Het |
| Ccdc83 |
T |
A |
7: 89,893,351 (GRCm39) |
E135D |
probably damaging |
Het |
| Ccser1 |
C |
T |
6: 62,357,016 (GRCm39) |
T818I |
probably benign |
Het |
| Cd44 |
T |
A |
2: 102,676,763 (GRCm39) |
T301S |
probably damaging |
Het |
| Eepd1 |
G |
A |
9: 25,394,499 (GRCm39) |
M254I |
probably benign |
Het |
| Ephb4 |
C |
T |
5: 137,359,509 (GRCm39) |
R360C |
probably damaging |
Het |
| Fam149a |
G |
T |
8: 45,808,684 (GRCm39) |
Q150K |
probably damaging |
Het |
| G6pc2 |
G |
A |
2: 69,051,198 (GRCm39) |
C97Y |
probably damaging |
Het |
| Gcsam |
T |
A |
16: 45,433,401 (GRCm39) |
M15K |
probably benign |
Het |
| Impdh2 |
C |
A |
9: 108,441,975 (GRCm39) |
T201K |
probably benign |
Het |
| Kdm2b |
C |
T |
5: 123,070,943 (GRCm39) |
E379K |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,307,000 (GRCm39) |
V371A |
probably benign |
Het |
| Mink1 |
T |
A |
11: 70,497,940 (GRCm39) |
N514K |
possibly damaging |
Het |
| Mmp12 |
C |
T |
9: 7,354,787 (GRCm39) |
P330L |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,169,353 (GRCm39) |
D676G |
possibly damaging |
Het |
| Myo1a |
C |
T |
10: 127,555,148 (GRCm39) |
P838L |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,356,225 (GRCm39) |
H1130R |
possibly damaging |
Het |
| Ninl |
C |
A |
2: 150,813,044 (GRCm39) |
G204V |
probably benign |
Het |
| Or12k5 |
C |
A |
2: 36,895,131 (GRCm39) |
R165L |
possibly damaging |
Het |
| Or2a54 |
T |
C |
6: 43,092,880 (GRCm39) |
V68A |
probably benign |
Het |
| Or4k51 |
T |
C |
2: 111,585,347 (GRCm39) |
F251S |
probably damaging |
Het |
| Or5ac20 |
G |
A |
16: 59,104,228 (GRCm39) |
L211F |
probably benign |
Het |
| Or5an11 |
T |
A |
19: 12,245,750 (GRCm39) |
L52* |
probably null |
Het |
| Or8c15 |
T |
C |
9: 38,120,777 (GRCm39) |
C141R |
probably damaging |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Pip4p2 |
A |
T |
4: 14,892,477 (GRCm39) |
I114L |
possibly damaging |
Het |
| Ptpn22 |
G |
T |
3: 103,781,563 (GRCm39) |
W114L |
probably damaging |
Het |
| Rasa1 |
C |
T |
13: 85,400,540 (GRCm39) |
|
probably null |
Het |
| Rbks |
C |
T |
5: 31,817,341 (GRCm39) |
V143I |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,269,241 (GRCm39) |
F515L |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,180 (GRCm39) |
T518A |
probably benign |
Het |
| Rpusd4 |
C |
A |
9: 35,184,065 (GRCm39) |
A240E |
probably damaging |
Het |
| Rufy3 |
T |
C |
5: 88,780,374 (GRCm39) |
L374P |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,618,935 (GRCm39) |
S299P |
probably damaging |
Het |
| Slc7a12 |
T |
G |
3: 14,562,414 (GRCm39) |
S264A |
possibly damaging |
Het |
| Tasor |
T |
A |
14: 27,186,217 (GRCm39) |
C805* |
probably null |
Het |
| Tm9sf1 |
T |
C |
14: 55,873,782 (GRCm39) |
Y572C |
probably damaging |
Het |
| Tpcn2 |
G |
A |
7: 144,813,871 (GRCm39) |
S475L |
probably benign |
Het |
| Trim17 |
A |
G |
11: 58,856,018 (GRCm39) |
D25G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,572,121 (GRCm39) |
K26257N |
probably damaging |
Het |
| Txndc11 |
C |
A |
16: 10,952,414 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
| Vmn2r58 |
G |
A |
7: 41,486,864 (GRCm39) |
T677I |
probably damaging |
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 |
|
|
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 |
|
R3940:Ankrd16
|
UTSW |
2 |
11,789,192 (GRCm39) |
missense |
probably benign |
|
|
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'- GCGGTAACCAGAATGACCTACGAG -3'
(R):5'- TCTTCAAGGAGTCCACGACTGCAC -3'
Sequencing Primer
(F):5'- GATCTGCTCTAAGACTGAACCTGG -3'
(R):5'- CCACGACTGCACCTCGG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation