Incidental Mutation 'IGL00742:Adck5'
| ID |
8585 |
| 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 # |
IGL00742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76460559-76480012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76473300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 50
(A50S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160784]
[ENSMUST00000161612]
[ENSMUST00000162503]
[ENSMUST00000161732]
|
| 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: A50S
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: A50S
| 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: A50S
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550
AA Change: A50S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162503
AA Change: A50S
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: A50S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
2.3e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161732
AA Change: A50S
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550
AA Change: A50S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230081
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229007
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg2 |
C |
T |
X: 159,271,715 (GRCm39) |
T778M |
probably damaging |
Het |
| Aimp1 |
G |
A |
3: 132,377,742 (GRCm39) |
Q208* |
probably null |
Het |
| Auh |
T |
C |
13: 52,992,138 (GRCm39) |
E210G |
probably damaging |
Het |
| Cdh20 |
T |
G |
1: 109,993,356 (GRCm39) |
N270K |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,128,458 (GRCm39) |
E218G |
probably benign |
Het |
| Cntn5 |
G |
T |
9: 9,976,302 (GRCm39) |
T214K |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,917,964 (GRCm39) |
D766V |
unknown |
Het |
| Ddb1 |
A |
G |
19: 10,588,124 (GRCm39) |
N203S |
probably benign |
Het |
| Eefsec |
A |
T |
6: 88,353,261 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Hdac6 |
T |
C |
X: 7,797,568 (GRCm39) |
D1019G |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,843 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,839,771 (GRCm39) |
C693S |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,520,151 (GRCm39) |
S181T |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,785 (GRCm39) |
Q291R |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,358,159 (GRCm39) |
R365C |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,918 (GRCm39) |
D66G |
probably damaging |
Het |
| Map9 |
T |
C |
3: 82,270,727 (GRCm39) |
V97A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,328,769 (GRCm39) |
E1129G |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,935,104 (GRCm39) |
H200L |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,438,788 (GRCm39) |
L2031S |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,741,229 (GRCm39) |
R243H |
probably benign |
Het |
| Omg |
T |
A |
11: 79,394,739 (GRCm39) |
|
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,563 (GRCm39) |
Y293F |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,280,315 (GRCm39) |
N413K |
possibly damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,608 (GRCm39) |
T769A |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,648,784 (GRCm39) |
P244S |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,699 (GRCm39) |
E244G |
probably damaging |
Het |
| Satb2 |
A |
T |
1: 56,870,700 (GRCm39) |
N428K |
possibly damaging |
Het |
| Svopl |
A |
G |
6: 38,007,952 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
G |
T |
3: 122,907,525 (GRCm39) |
P597Q |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,818,578 (GRCm39) |
H4Q |
possibly damaging |
Het |
| Ugt2b5 |
C |
T |
5: 87,275,673 (GRCm39) |
G393S |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,834 (GRCm39) |
I715T |
possibly damaging |
Het |
|
| Other mutations in Adck5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02615:Adck5
|
APN |
15 |
76,473,367 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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 |
2012-12-06 |
Incidental Mutation