Incidental Mutation 'IGL02746:Adck5'
| ID |
306046 |
| 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 # |
IGL02746
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76460559-76480012 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76473354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 68
(M68L)
|
| 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: M68L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124666
Gene: ENSMUSG00000022550
AA Change: M68L
| 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 |
probably benign
Transcript: ENSMUST00000161612
AA Change: M68L
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124701
Gene: ENSMUSG00000022550
AA Change: M68L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162503
AA Change: M68L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125055
Gene: ENSMUSG00000022550
AA Change: M68L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
50 |
69 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
188 |
304 |
2.3e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161732
AA Change: M68L
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000125482
Gene: ENSMUSG00000022550
AA Change: M68L
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
G |
A |
6: 121,646,462 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,222,701 (GRCm39) |
S1165P |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,345,030 (GRCm39) |
|
probably benign |
Het |
| Brdt |
T |
C |
5: 107,518,190 (GRCm39) |
L771P |
probably benign |
Het |
| Ccdc134 |
T |
A |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,939,312 (GRCm39) |
D41E |
possibly damaging |
Het |
| Cdkn2aipnl |
A |
G |
11: 51,861,047 (GRCm39) |
T106A |
probably damaging |
Het |
| Cox10 |
G |
A |
11: 63,855,357 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
A |
2: 13,449,851 (GRCm39) |
C891F |
probably damaging |
Het |
| Cyb5rl |
A |
G |
4: 106,925,836 (GRCm39) |
E6G |
probably benign |
Het |
| Dhrs2 |
T |
C |
14: 55,478,628 (GRCm39) |
S258P |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,807,150 (GRCm39) |
L145P |
possibly damaging |
Het |
| Epc1 |
A |
G |
18: 6,454,317 (GRCm39) |
I129T |
probably benign |
Het |
| Gkn3 |
A |
G |
6: 87,364,339 (GRCm39) |
|
probably benign |
Het |
| Gls2 |
A |
G |
10: 128,036,825 (GRCm39) |
D202G |
probably damaging |
Het |
| Gm45844 |
A |
G |
7: 7,243,178 (GRCm39) |
F24S |
probably damaging |
Het |
| Golph3 |
C |
T |
15: 12,349,501 (GRCm39) |
R174W |
probably damaging |
Het |
| Gpatch4 |
A |
C |
3: 87,961,698 (GRCm39) |
E119A |
possibly damaging |
Het |
| Hemgn |
A |
G |
4: 46,400,740 (GRCm39) |
L40P |
probably damaging |
Het |
| Ifi27l2b |
A |
T |
12: 103,417,493 (GRCm39) |
D231E |
unknown |
Het |
| Klf12 |
T |
C |
14: 100,137,656 (GRCm39) |
I297V |
probably benign |
Het |
| Lzts3 |
T |
C |
2: 130,478,261 (GRCm39) |
N165S |
probably damaging |
Het |
| Nlrp4e |
G |
A |
7: 23,021,264 (GRCm39) |
V584I |
probably benign |
Het |
| Npas4 |
T |
C |
19: 5,036,695 (GRCm39) |
T490A |
probably damaging |
Het |
| Pikfyve |
C |
A |
1: 65,273,431 (GRCm39) |
H615Q |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,686,916 (GRCm39) |
L608Q |
probably damaging |
Het |
| Pou2f3 |
T |
G |
9: 43,058,143 (GRCm39) |
Q67H |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,700,585 (GRCm39) |
L1694P |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,082,932 (GRCm39) |
T117A |
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,379,703 (GRCm39) |
N194D |
probably damaging |
Het |
| Sec16b |
T |
A |
1: 157,373,859 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
A |
T |
2: 164,816,836 (GRCm39) |
M97L |
probably benign |
Het |
| Stard13 |
A |
G |
5: 150,970,322 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
A |
C |
2: 166,796,818 (GRCm39) |
|
probably null |
Het |
| Thg1l |
A |
T |
11: 45,839,054 (GRCm39) |
C219* |
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,270 (GRCm39) |
E174* |
probably null |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,480 (GRCm39) |
S68P |
possibly damaging |
Het |
| Vmn2r3 |
A |
T |
3: 64,167,239 (GRCm39) |
S631T |
possibly damaging |
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 |
|
IGL02615:Adck5
|
APN |
15 |
76,473,367 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
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