Incidental Mutation 'R0280:Ankrd16'
| ID |
37437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankrd16
|
| Ensembl Gene |
ENSMUSG00000047909 |
| Gene Name |
ankyrin repeat domain 16 |
| Synonyms |
D430029B21Rik, 2810455F06Rik |
| MMRRC Submission |
038502-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R0280 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
11782687-11795140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 11786312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 187
(V187G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056108]
[ENSMUST00000071564]
[ENSMUST00000130186]
[ENSMUST00000156067]
[ENSMUST00000133664]
|
| AlphaFold |
A2AS55 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056108
AA Change: V187G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052056
Gene: ENSMUSG00000047909
AA Change: V187G
| 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 benign
Transcript: ENSMUST00000128774
|
| SMART Domains |
Protein: ENSMUSP00000121218
Gene: ENSMUSG00000047909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ank_4
|
10 |
65 |
1e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130186
|
| SMART Domains |
Protein: ENSMUSP00000141685
Gene: ENSMUSG00000047909
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
36 |
66 |
7.2e-3 |
SMART |
|
Pfam:Ank
|
72 |
90 |
7.9e-3 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156067
AA Change: S162R
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115525
Gene: ENSMUSG00000047909
AA Change: S162R
| 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 |
probably damaging
Transcript: ENSMUST00000133664
AA Change: V13G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115226
Gene: ENSMUSG00000047909
AA Change: V13G
| 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: ENSMUST00000151402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142622
|
| Meta Mutation Damage Score |
0.8997 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Adam18 |
C |
T |
8: 25,164,070 (GRCm39) |
G38R |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,396,487 (GRCm39) |
N793Y |
probably benign |
Het |
| Ccdc170 |
T |
C |
10: 4,508,663 (GRCm39) |
I629T |
possibly damaging |
Het |
| Clcn6 |
A |
G |
4: 148,093,172 (GRCm39) |
L836P |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Crocc |
T |
C |
4: 140,755,737 (GRCm39) |
E1097G |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,321,616 (GRCm39) |
V494E |
probably damaging |
Het |
| Drg1 |
A |
T |
11: 3,206,537 (GRCm39) |
|
probably null |
Het |
| Dscam |
T |
C |
16: 96,840,206 (GRCm39) |
K134E |
possibly damaging |
Het |
| Dyrk1b |
T |
C |
7: 27,883,737 (GRCm39) |
Y198H |
probably damaging |
Het |
| Esr1 |
A |
G |
10: 4,806,951 (GRCm39) |
D289G |
probably benign |
Het |
| Esr1 |
G |
T |
10: 4,889,289 (GRCm39) |
V396F |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,243,133 (GRCm39) |
V339A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,944,965 (GRCm39) |
Q1286L |
probably benign |
Het |
| Fcsk |
A |
T |
8: 111,621,380 (GRCm39) |
V188D |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,887,681 (GRCm39) |
H1118R |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,852 (GRCm39) |
D321N |
probably benign |
Het |
| Gaa |
T |
G |
11: 119,175,373 (GRCm39) |
V917G |
probably damaging |
Het |
| Gm973 |
GCC |
GC |
1: 59,583,839 (GRCm39) |
|
probably null |
Het |
| Kidins220 |
A |
G |
12: 25,060,140 (GRCm39) |
T767A |
probably damaging |
Het |
| Kif7 |
A |
G |
7: 79,348,571 (GRCm39) |
S1257P |
probably benign |
Het |
| Ltn1 |
A |
G |
16: 87,194,726 (GRCm39) |
L1391P |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,236,439 (GRCm39) |
Y681H |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,240,564 (GRCm39) |
V291A |
possibly damaging |
Het |
| Metrn |
C |
T |
17: 26,014,109 (GRCm39) |
R239H |
probably benign |
Het |
| Mphosph10 |
C |
A |
7: 64,026,451 (GRCm39) |
K666N |
possibly damaging |
Het |
| Mtbp |
C |
T |
15: 55,449,857 (GRCm39) |
T433I |
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,710,545 (GRCm39) |
K365E |
probably damaging |
Het |
| Nanog |
A |
G |
6: 122,690,357 (GRCm39) |
D229G |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,520,679 (GRCm39) |
T123A |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,131,840 (GRCm39) |
N338S |
possibly damaging |
Het |
| Nphp4 |
T |
A |
4: 152,636,393 (GRCm39) |
|
probably benign |
Het |
| Odad4 |
A |
T |
11: 100,441,091 (GRCm39) |
K107N |
probably damaging |
Het |
| Or4g16 |
T |
C |
2: 111,137,417 (GRCm39) |
F289S |
possibly damaging |
Het |
| Plcl2 |
A |
G |
17: 50,914,062 (GRCm39) |
E357G |
probably damaging |
Het |
| Polb |
A |
T |
8: 23,130,408 (GRCm39) |
Y173N |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,090,512 (GRCm39) |
S74T |
probably benign |
Het |
| Raet1d |
T |
A |
10: 22,246,782 (GRCm39) |
C37S |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,432,511 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
T |
C |
1: 190,541,197 (GRCm39) |
S369G |
probably damaging |
Het |
| Sgf29 |
A |
G |
7: 126,270,743 (GRCm39) |
E108G |
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,863,361 (GRCm39) |
L942P |
probably damaging |
Het |
| Slc22a27 |
A |
T |
19: 7,874,187 (GRCm39) |
L188* |
probably null |
Het |
| Slc9a3 |
T |
A |
13: 74,307,543 (GRCm39) |
I445N |
probably damaging |
Het |
| Sufu |
A |
T |
19: 46,439,112 (GRCm39) |
|
probably benign |
Het |
| Tomm40 |
G |
A |
7: 19,447,676 (GRCm39) |
T118I |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,570,823 (GRCm39) |
R26690H |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,005 (GRCm39) |
I293V |
possibly damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
| Vsig8 |
A |
G |
1: 172,389,105 (GRCm39) |
D119G |
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 |
|
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 |
|
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'- ACTCTAGGTGTTTGACCAGGGCAG -3'
(R):5'- CAGCCGTTATCCTCAGGTGAACAG -3'
Sequencing Primer
(F):5'- acctctacccacacatacaaac -3'
(R):5'- GCTGGTGCAGAGACATTTACTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation