Incidental Mutation 'IGL01663:Ankrd16'
| ID |
103239 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ankrd16
|
| Ensembl Gene |
ENSMUSG00000047909 |
| Gene Name |
ankyrin repeat domain 16 |
| Synonyms |
D430029B21Rik, 2810455F06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL01663
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
11782687-11795140 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11783473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 25
(E25G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056108]
[ENSMUST00000071564]
[ENSMUST00000130186]
[ENSMUST00000133664]
[ENSMUST00000156067]
|
| AlphaFold |
A2AS55 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056108
AA Change: E25G
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052056
Gene: ENSMUSG00000047909
AA Change: E25G
| 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: E25G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141685
Gene: ENSMUSG00000047909
AA Change: E25G
| 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: E25G
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000115525
Gene: ENSMUSG00000047909
AA Change: E25G
| 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: ENSMUST00000151402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150213
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150320
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145547
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,168,628 (GRCm39) |
I1085V |
possibly damaging |
Het |
| Adamts16 |
T |
C |
13: 70,941,260 (GRCm39) |
T376A |
probably benign |
Het |
| Aifm3 |
T |
A |
16: 17,320,650 (GRCm39) |
|
probably null |
Het |
| Ano6 |
T |
A |
15: 95,865,495 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
T |
C |
15: 23,446,077 (GRCm39) |
I509T |
possibly damaging |
Het |
| Cdon |
A |
G |
9: 35,394,510 (GRCm39) |
T919A |
possibly damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,522,916 (GRCm39) |
P148L |
probably damaging |
Het |
| Dnph1 |
G |
T |
17: 46,809,408 (GRCm39) |
R74L |
probably benign |
Het |
| Epha6 |
C |
T |
16: 59,596,007 (GRCm39) |
A895T |
probably damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,395,845 (GRCm39) |
|
probably benign |
Het |
| Fbll1 |
A |
G |
11: 35,688,648 (GRCm39) |
I205T |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,424,434 (GRCm39) |
H3001L |
probably damaging |
Het |
| Galk2 |
A |
G |
2: 125,825,099 (GRCm39) |
N432D |
probably benign |
Het |
| Gm7535 |
A |
C |
17: 18,131,619 (GRCm39) |
|
probably benign |
Het |
| Il10 |
A |
G |
1: 130,949,151 (GRCm39) |
E104G |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,146,637 (GRCm39) |
K152R |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,227,213 (GRCm39) |
N568K |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,668 (GRCm39) |
L2725R |
probably damaging |
Het |
| Krba1 |
G |
T |
6: 48,388,688 (GRCm39) |
L527F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,259,050 (GRCm39) |
S4547P |
probably benign |
Het |
| Nin |
G |
T |
12: 70,090,439 (GRCm39) |
A992E |
possibly damaging |
Het |
| Or11g7 |
G |
A |
14: 50,690,607 (GRCm39) |
V33M |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,267,098 (GRCm39) |
H158Q |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,400,186 (GRCm39) |
I712M |
possibly damaging |
Het |
| Prmt2 |
C |
T |
10: 76,053,143 (GRCm39) |
|
probably null |
Het |
| Rbm20 |
T |
G |
19: 53,829,426 (GRCm39) |
V608G |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,324,846 (GRCm39) |
|
probably benign |
Het |
| Speer3 |
A |
T |
5: 13,843,236 (GRCm39) |
R48* |
probably null |
Het |
| Tlr1 |
A |
T |
5: 65,082,416 (GRCm39) |
N720K |
possibly damaging |
Het |
| Tnfrsf21 |
A |
T |
17: 43,398,702 (GRCm39) |
M603L |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,210,590 (GRCm39) |
|
probably null |
Het |
| Usp4 |
C |
A |
9: 108,243,079 (GRCm39) |
A249E |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,759,948 (GRCm39) |
V278E |
probably damaging |
Het |
|
| Other mutations in Ankrd16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation