Incidental Mutation 'IGL02369:Adck2'
| ID |
290867 |
| 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 # |
IGL02369
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
39550807-39565703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 39551678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 148
(L148F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051249]
[ENSMUST00000140364]
[ENSMUST00000145788]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051249
AA Change: L148F
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000050256
Gene: ENSMUSG00000046947
AA Change: L148F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134913
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140364
AA Change: L148F
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000123563
Gene: ENSMUSG00000046947
AA Change: L148F
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144149
Gene: ENSMUSG00000046947
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10 |
G |
A |
8: 15,047,551 (GRCm39) |
R1138H |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 111,948,266 (GRCm39) |
T668A |
probably benign |
Het |
| Atp6v0b |
T |
A |
4: 117,742,850 (GRCm39) |
I79F |
possibly damaging |
Het |
| Atp8b5 |
A |
T |
4: 43,334,205 (GRCm39) |
N324Y |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,579,975 (GRCm39) |
I610M |
possibly damaging |
Het |
| Casr |
G |
T |
16: 36,315,051 (GRCm39) |
D929E |
probably benign |
Het |
| Cbln2 |
T |
C |
18: 86,731,479 (GRCm39) |
S96P |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,238,344 (GRCm39) |
K73E |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,814,645 (GRCm39) |
Y457C |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,535,000 (GRCm39) |
Y152H |
probably damaging |
Het |
| Fbh1 |
A |
T |
2: 11,751,969 (GRCm39) |
S910T |
possibly damaging |
Het |
| Gm10142 |
T |
C |
10: 77,551,947 (GRCm39) |
S103P |
probably benign |
Het |
| Gm12886 |
A |
G |
4: 121,280,229 (GRCm39) |
S16P |
unknown |
Het |
| Gpr146 |
T |
C |
5: 139,378,443 (GRCm39) |
Y82H |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,399,293 (GRCm39) |
Q4282* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,943,722 (GRCm39) |
E434V |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,389,893 (GRCm39) |
|
probably benign |
Het |
| Islr |
A |
C |
9: 58,064,907 (GRCm39) |
V200G |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,815,737 (GRCm39) |
D400G |
probably benign |
Het |
| Lonrf2 |
A |
G |
1: 38,850,913 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,294,980 (GRCm39) |
L3446Q |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,164,794 (GRCm39) |
V1425I |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,251,100 (GRCm39) |
|
probably benign |
Het |
| Nutm2 |
T |
G |
13: 50,623,944 (GRCm39) |
S214A |
probably benign |
Het |
| Or10aa1 |
T |
A |
1: 173,869,539 (GRCm39) |
W8R |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,665 (GRCm39) |
F66S |
probably damaging |
Het |
| Or5b99 |
T |
C |
19: 12,977,072 (GRCm39) |
S241P |
probably damaging |
Het |
| Or6c33 |
C |
A |
10: 129,853,425 (GRCm39) |
A65E |
possibly damaging |
Het |
| Pax5 |
A |
T |
4: 44,691,919 (GRCm39) |
M109K |
probably damaging |
Het |
| Pfkfb2 |
G |
A |
1: 130,628,572 (GRCm39) |
R345W |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,342,977 (GRCm39) |
D105G |
unknown |
Het |
| Prdm11 |
A |
G |
2: 92,805,864 (GRCm39) |
V362A |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,171,393 (GRCm39) |
|
probably null |
Het |
| Prl8a1 |
T |
C |
13: 27,760,924 (GRCm39) |
T103A |
possibly damaging |
Het |
| Rgl1 |
T |
C |
1: 152,409,357 (GRCm39) |
I493V |
probably damaging |
Het |
| Rimkla |
A |
G |
4: 119,335,146 (GRCm39) |
V79A |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,634,382 (GRCm39) |
S3791R |
possibly damaging |
Het |
| Sh3rf2 |
C |
A |
18: 42,289,222 (GRCm39) |
S681* |
probably null |
Het |
| Stmnd1 |
T |
A |
13: 46,439,029 (GRCm39) |
I87K |
probably benign |
Het |
| Tspan8 |
C |
A |
10: 115,675,782 (GRCm39) |
F149L |
probably benign |
Het |
| Tspan8 |
A |
C |
10: 115,675,783 (GRCm39) |
K150Q |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,772,720 (GRCm39) |
E2425G |
probably damaging |
Het |
|
| Other mutations in Adck2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:Adck2
|
APN |
6 |
39,560,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
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 |
2015-04-16 |
Incidental Mutation