Incidental Mutation 'IGL02615:Adck5'
| ID |
300625 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adck5
|
| Ensembl Gene |
ENSMUSG00000022550 |
| Gene Name |
aarF domain containing kinase 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02615
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76460559-76480012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 76473367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 72
(S72L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000161732]
[ENSMUST00000162503]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159949
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160410
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160784
AA Change: S72L
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: S72L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
9.2e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161311
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161612
AA Change: S72L
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550
AA Change: S72L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161732
AA Change: S72L
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550
AA Change: S72L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162503
AA Change: S72L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: S72L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
2.3e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229007
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230081
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
G |
T |
5: 138,644,402 (GRCm39) |
E96* |
probably null |
Het |
| Afdn |
A |
G |
17: 14,046,238 (GRCm39) |
H404R |
probably benign |
Het |
| Aph1c |
A |
T |
9: 66,726,688 (GRCm39) |
V222E |
possibly damaging |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bcl2l13 |
A |
T |
6: 120,839,828 (GRCm39) |
D42V |
probably damaging |
Het |
| Bhlhe22 |
C |
T |
3: 18,109,064 (GRCm39) |
T38I |
possibly damaging |
Het |
| Ccdc51 |
A |
T |
9: 108,918,503 (GRCm39) |
T31S |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,597,076 (GRCm39) |
I669T |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,739,704 (GRCm39) |
T998A |
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,189,672 (GRCm39) |
Y410C |
probably damaging |
Het |
| Gli2 |
T |
A |
1: 118,772,128 (GRCm39) |
N526Y |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,307 (GRCm39) |
I70T |
possibly damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,030,793 (GRCm39) |
|
probably benign |
Het |
| Mrps34 |
A |
G |
17: 25,114,767 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,823,630 (GRCm39) |
I1053L |
probably benign |
Het |
| Nckap5l |
G |
A |
15: 99,327,263 (GRCm39) |
P142L |
possibly damaging |
Het |
| Platr26 |
T |
A |
2: 71,560,770 (GRCm39) |
|
noncoding transcript |
Het |
| Rag2 |
T |
A |
2: 101,459,913 (GRCm39) |
Y74* |
probably null |
Het |
| Rnf213 |
A |
T |
11: 119,331,615 (GRCm39) |
M2275L |
probably damaging |
Het |
| Rsbn1 |
T |
A |
3: 103,861,068 (GRCm39) |
L498Q |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,964,828 (GRCm39) |
V62A |
probably benign |
Het |
| Spag17 |
A |
G |
3: 99,979,401 (GRCm39) |
I1421V |
probably benign |
Het |
| Spata31f1e |
C |
T |
4: 42,793,027 (GRCm39) |
M368I |
probably benign |
Het |
| St6galnac4 |
A |
G |
2: 32,484,216 (GRCm39) |
H138R |
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,143,768 (GRCm39) |
M1045K |
probably damaging |
Het |
| Tbxas1 |
C |
T |
6: 39,004,800 (GRCm39) |
T349M |
probably damaging |
Het |
| U2surp |
T |
G |
9: 95,375,284 (GRCm39) |
D146A |
probably benign |
Het |
| Usp38 |
T |
C |
8: 81,711,780 (GRCm39) |
M752V |
probably benign |
Het |
|
| Other mutations in Adck5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Adck5
|
APN |
15 |
76,473,300 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01366:Adck5
|
APN |
15 |
76,479,816 (GRCm39) |
makesense |
probably null |
|
|
IGL01534:Adck5
|
APN |
15 |
76,478,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02066:Adck5
|
APN |
15 |
76,479,406 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02746:Adck5
|
APN |
15 |
76,473,354 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0865:Adck5
|
UTSW |
15 |
76,479,843 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0946:Adck5
|
UTSW |
15 |
76,477,486 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3714:Adck5
|
UTSW |
15 |
76,478,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Adck5
|
UTSW |
15 |
76,479,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4373:Adck5
|
UTSW |
15 |
76,478,535 (GRCm39) |
unclassified |
probably benign |
|
|
R4377:Adck5
|
UTSW |
15 |
76,478,535 (GRCm39) |
unclassified |
probably benign |
|
|
R5343:Adck5
|
UTSW |
15 |
76,479,780 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5372:Adck5
|
UTSW |
15 |
76,478,707 (GRCm39) |
unclassified |
probably benign |
|
|
R5890:Adck5
|
UTSW |
15 |
76,477,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Adck5
|
UTSW |
15 |
76,478,887 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6277:Adck5
|
UTSW |
15 |
76,477,463 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6530:Adck5
|
UTSW |
15 |
76,478,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7163:Adck5
|
UTSW |
15 |
76,478,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7427:Adck5
|
UTSW |
15 |
76,478,585 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7447:Adck5
|
UTSW |
15 |
76,479,396 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7685:Adck5
|
UTSW |
15 |
76,479,588 (GRCm39) |
nonsense |
probably null |
|
|
R7745:Adck5
|
UTSW |
15 |
76,478,748 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8912:Adck5
|
UTSW |
15 |
76,477,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9133:Adck5
|
UTSW |
15 |
76,460,612 (GRCm39) |
start gained |
probably benign |
|
|
R9664:Adck5
|
UTSW |
15 |
76,478,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Adck5
|
UTSW |
15 |
76,479,542 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2015-04-16 |
Incidental Mutation