Incidental Mutation 'IGL01356:Adck2'
| ID |
75525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adck2
|
| Ensembl Gene |
ENSMUSG00000046947 |
| Gene Name |
aarF domain containing kinase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
39550807-39565703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39560854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 463
(V463A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051249]
[ENSMUST00000140364]
[ENSMUST00000145788]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051249
AA Change: V414A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000050256
Gene: ENSMUSG00000046947
AA Change: V414A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134913
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140364
AA Change: V463A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000123563
Gene: ENSMUSG00000046947
AA Change: V463A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
124 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
289 |
380 |
5.4e-18 |
PFAM |
|
low complexity region
|
551 |
567 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145788
AA Change: V150A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144149
Gene: ENSMUSG00000046947
AA Change: V150A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC1
|
1 |
67 |
4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149304
|
| SMART Domains |
Protein: ENSMUSP00000121590
Gene: ENSMUSG00000046947
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC1
|
1 |
69 |
1.4e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA474408 |
T |
C |
7: 109,660,189 (GRCm39) |
|
probably benign |
Het |
| Acsl1 |
T |
C |
8: 46,964,500 (GRCm39) |
|
probably null |
Het |
| Armh3 |
C |
T |
19: 45,954,742 (GRCm39) |
C149Y |
possibly damaging |
Het |
| B4galt4 |
T |
A |
16: 38,574,506 (GRCm39) |
I224N |
probably damaging |
Het |
| Caprin1 |
T |
C |
2: 103,605,801 (GRCm39) |
T396A |
probably benign |
Het |
| Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,970,127 (GRCm39) |
K960I |
probably damaging |
Het |
| Cldn4 |
A |
G |
5: 134,975,343 (GRCm39) |
I86T |
probably benign |
Het |
| Cst12 |
A |
C |
2: 148,631,468 (GRCm39) |
D50A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,501,459 (GRCm39) |
Y1864H |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,658,155 (GRCm39) |
G1642E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,619,341 (GRCm39) |
L241P |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,281,202 (GRCm39) |
R669H |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,601,876 (GRCm39) |
P455S |
probably damaging |
Het |
| Lrig1 |
A |
G |
6: 94,631,901 (GRCm39) |
Y100H |
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,586,874 (GRCm39) |
P601S |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,660,865 (GRCm39) |
D419G |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,584 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,722 (GRCm39) |
L1094P |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,127,064 (GRCm39) |
N770K |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,800,000 (GRCm39) |
H987R |
possibly damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,324 (GRCm39) |
C111S |
probably damaging |
Het |
| Or5p63 |
T |
A |
7: 107,810,933 (GRCm39) |
I268F |
probably benign |
Het |
| Or7g26 |
T |
A |
9: 19,230,238 (GRCm39) |
M142K |
probably damaging |
Het |
| Pate13 |
T |
A |
9: 35,820,244 (GRCm39) |
C33* |
probably null |
Het |
| Plcg1 |
G |
T |
2: 160,595,813 (GRCm39) |
G561W |
probably damaging |
Het |
| Ripor3 |
T |
A |
2: 167,835,495 (GRCm39) |
M159L |
probably benign |
Het |
| Serpinb6a |
A |
G |
13: 34,109,400 (GRCm39) |
S111P |
possibly damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,945,784 (GRCm39) |
H537Q |
probably benign |
Het |
| Tefm |
G |
A |
11: 80,028,823 (GRCm39) |
R43* |
probably null |
Het |
| Tiam1 |
A |
G |
16: 89,634,676 (GRCm39) |
V878A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,947 (GRCm39) |
S243G |
probably damaging |
Het |
| Vmn2r124 |
G |
T |
17: 18,293,733 (GRCm39) |
V607L |
probably benign |
Het |
| Vps8 |
T |
G |
16: 21,336,107 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
A |
T |
4: 131,932,661 (GRCm39) |
D166E |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,434,694 (GRCm39) |
V2203A |
unknown |
Het |
|
| Other mutations in Adck2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02369:Adck2
|
APN |
6 |
39,551,678 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02956:Adck2
|
APN |
6 |
39,553,436 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0240:Adck2
|
UTSW |
6 |
39,560,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0240:Adck2
|
UTSW |
6 |
39,560,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0241:Adck2
|
UTSW |
6 |
39,560,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0241:Adck2
|
UTSW |
6 |
39,560,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1107:Adck2
|
UTSW |
6 |
39,562,719 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1691:Adck2
|
UTSW |
6 |
39,551,902 (GRCm39) |
nonsense |
probably null |
|
|
R2125:Adck2
|
UTSW |
6 |
39,552,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2206:Adck2
|
UTSW |
6 |
39,560,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Adck2
|
UTSW |
6 |
39,560,932 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4795:Adck2
|
UTSW |
6 |
39,553,327 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5556:Adck2
|
UTSW |
6 |
39,560,869 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6402:Adck2
|
UTSW |
6 |
39,563,803 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6824:Adck2
|
UTSW |
6 |
39,552,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6927:Adck2
|
UTSW |
6 |
39,560,998 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7163:Adck2
|
UTSW |
6 |
39,560,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8249:Adck2
|
UTSW |
6 |
39,562,667 (GRCm39) |
nonsense |
probably null |
|
|
R8775:Adck2
|
UTSW |
6 |
39,552,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8775-TAIL:Adck2
|
UTSW |
6 |
39,552,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8958:Adck2
|
UTSW |
6 |
39,560,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8964:Adck2
|
UTSW |
6 |
39,551,083 (GRCm39) |
unclassified |
probably benign |
|
|
R9446:Adck2
|
UTSW |
6 |
39,551,221 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Adck2
|
UTSW |
6 |
39,551,022 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation