Incidental Mutation 'IGL03196:Adck1'
ID |
412823 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adck1
|
Ensembl Gene |
ENSMUSG00000021044 |
Gene Name |
aarF domain containing kinase 1 |
Synonyms |
2610005A10Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03196
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
88327324-88428494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88397885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 173
(V173A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101165]
[ENSMUST00000166940]
[ENSMUST00000222695]
|
AlphaFold |
Q9D0L4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000101165
AA Change: V173A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098724 Gene: ENSMUSG00000021044 AA Change: V173A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
Pfam:ABC1
|
136 |
252 |
1.7e-42 |
PFAM |
Pfam:Pkinase
|
150 |
348 |
1.3e-5 |
PFAM |
low complexity region
|
498 |
508 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166940
AA Change: V173A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127254 Gene: ENSMUSG00000021044 AA Change: V173A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
low complexity region
|
35 |
48 |
N/A |
INTRINSIC |
Pfam:ABC1
|
136 |
252 |
2.2e-42 |
PFAM |
Pfam:Pkinase
|
150 |
357 |
6.2e-6 |
PFAM |
low complexity region
|
498 |
508 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222124
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222695
AA Change: V173A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223538
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
T |
C |
6: 83,138,045 (GRCm39) |
V57A |
probably damaging |
Het |
Adgrv1 |
C |
A |
13: 81,594,597 (GRCm39) |
R4139L |
probably benign |
Het |
Aqp4 |
T |
G |
18: 15,526,566 (GRCm39) |
D305A |
probably benign |
Het |
Cadm1 |
T |
C |
9: 47,710,675 (GRCm39) |
S193P |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,340 (GRCm39) |
S377P |
possibly damaging |
Het |
Clic5 |
C |
A |
17: 44,552,960 (GRCm39) |
H71Q |
possibly damaging |
Het |
Col20a1 |
G |
A |
2: 180,649,671 (GRCm39) |
|
probably null |
Het |
Col5a1 |
A |
G |
2: 27,865,610 (GRCm39) |
D759G |
unknown |
Het |
Cplane1 |
A |
T |
15: 8,230,826 (GRCm39) |
K1034N |
probably damaging |
Het |
Cpt1b |
A |
G |
15: 89,308,598 (GRCm39) |
V110A |
probably benign |
Het |
Cts8 |
C |
T |
13: 61,401,272 (GRCm39) |
G85S |
probably benign |
Het |
Cul5 |
T |
A |
9: 53,537,180 (GRCm39) |
M551L |
probably damaging |
Het |
Eno1b |
T |
A |
18: 48,180,558 (GRCm39) |
D245E |
probably damaging |
Het |
Fgf1 |
A |
T |
18: 38,975,028 (GRCm39) |
Y140* |
probably null |
Het |
Flt1 |
A |
G |
5: 147,551,937 (GRCm39) |
|
probably null |
Het |
Fndc7 |
A |
G |
3: 108,790,760 (GRCm39) |
Y89H |
probably damaging |
Het |
Gm3127 |
A |
T |
14: 15,432,259 (GRCm39) |
M254L |
probably benign |
Het |
Gm5849 |
T |
C |
3: 90,685,089 (GRCm39) |
E32G |
probably damaging |
Het |
Gys1 |
T |
C |
7: 45,104,241 (GRCm39) |
|
probably benign |
Het |
H2ap |
A |
G |
X: 9,713,349 (GRCm39) |
Q27R |
possibly damaging |
Het |
Hdgfl2 |
T |
C |
17: 56,400,607 (GRCm39) |
V125A |
probably benign |
Het |
Igkv6-32 |
C |
T |
6: 70,051,042 (GRCm39) |
V105I |
probably benign |
Het |
Lmo3 |
T |
C |
6: 138,342,993 (GRCm39) |
T140A |
probably benign |
Het |
Marf1 |
A |
G |
16: 13,958,123 (GRCm39) |
V793A |
possibly damaging |
Het |
Mep1b |
A |
C |
18: 21,228,121 (GRCm39) |
I575L |
probably benign |
Het |
Mtmr4 |
T |
A |
11: 87,491,609 (GRCm39) |
I155N |
possibly damaging |
Het |
Muc2 |
T |
C |
7: 141,301,367 (GRCm39) |
F361L |
probably damaging |
Het |
Ncoa7 |
T |
A |
10: 30,523,510 (GRCm39) |
|
probably benign |
Het |
Nme6 |
C |
T |
9: 109,670,561 (GRCm39) |
R71W |
probably damaging |
Het |
Or56b1b |
T |
C |
7: 108,164,061 (GRCm39) |
S314G |
probably benign |
Het |
Or9g4b |
G |
A |
2: 85,616,365 (GRCm39) |
G170D |
possibly damaging |
Het |
Or9m2 |
A |
T |
2: 87,820,826 (GRCm39) |
I124F |
possibly damaging |
Het |
Osbpl9 |
C |
T |
4: 108,930,061 (GRCm39) |
V357I |
probably damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,015,913 (GRCm39) |
|
probably benign |
Het |
Rnf216 |
T |
C |
5: 143,066,766 (GRCm39) |
R474G |
probably damaging |
Het |
Rpp25l |
A |
G |
4: 41,712,541 (GRCm39) |
V78A |
possibly damaging |
Het |
Sh3bp2 |
C |
A |
5: 34,714,687 (GRCm39) |
P245Q |
probably damaging |
Het |
Slc33a1 |
A |
G |
3: 63,871,151 (GRCm39) |
F154S |
possibly damaging |
Het |
Wasf2 |
T |
A |
4: 132,921,732 (GRCm39) |
S284T |
unknown |
Het |
Wdtc1 |
T |
C |
4: 133,022,648 (GRCm39) |
E566G |
probably damaging |
Het |
Zcchc14 |
C |
T |
8: 122,335,877 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Adck1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Adck1
|
APN |
12 |
88,335,192 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00822:Adck1
|
APN |
12 |
88,422,286 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01370:Adck1
|
APN |
12 |
88,423,503 (GRCm39) |
splice site |
probably benign |
|
IGL01480:Adck1
|
APN |
12 |
88,423,635 (GRCm39) |
nonsense |
probably null |
|
IGL01994:Adck1
|
APN |
12 |
88,397,926 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02089:Adck1
|
APN |
12 |
88,413,480 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03058:Adck1
|
APN |
12 |
88,425,900 (GRCm39) |
missense |
probably benign |
|
IGL03307:Adck1
|
APN |
12 |
88,425,823 (GRCm39) |
missense |
possibly damaging |
0.94 |
full-figured
|
UTSW |
12 |
88,407,887 (GRCm39) |
missense |
possibly damaging |
0.63 |
0152:Adck1
|
UTSW |
12 |
88,397,921 (GRCm39) |
missense |
probably benign |
0.03 |
R0107:Adck1
|
UTSW |
12 |
88,413,426 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0164:Adck1
|
UTSW |
12 |
88,422,280 (GRCm39) |
missense |
probably damaging |
0.99 |
R0164:Adck1
|
UTSW |
12 |
88,422,280 (GRCm39) |
missense |
probably damaging |
0.99 |
R0179:Adck1
|
UTSW |
12 |
88,425,942 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0505:Adck1
|
UTSW |
12 |
88,338,461 (GRCm39) |
splice site |
probably benign |
|
R0561:Adck1
|
UTSW |
12 |
88,335,204 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0831:Adck1
|
UTSW |
12 |
88,335,118 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R1005:Adck1
|
UTSW |
12 |
88,368,872 (GRCm39) |
missense |
probably damaging |
0.98 |
R1524:Adck1
|
UTSW |
12 |
88,368,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R2016:Adck1
|
UTSW |
12 |
88,427,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R4438:Adck1
|
UTSW |
12 |
88,397,920 (GRCm39) |
nonsense |
probably null |
|
R4745:Adck1
|
UTSW |
12 |
88,368,949 (GRCm39) |
splice site |
probably null |
|
R4827:Adck1
|
UTSW |
12 |
88,413,489 (GRCm39) |
missense |
probably benign |
0.06 |
R4859:Adck1
|
UTSW |
12 |
88,407,865 (GRCm39) |
missense |
probably benign |
0.02 |
R4885:Adck1
|
UTSW |
12 |
88,407,865 (GRCm39) |
missense |
probably benign |
0.02 |
R4921:Adck1
|
UTSW |
12 |
88,407,908 (GRCm39) |
missense |
probably benign |
0.10 |
R5383:Adck1
|
UTSW |
12 |
88,422,373 (GRCm39) |
missense |
probably benign |
0.04 |
R5958:Adck1
|
UTSW |
12 |
88,425,822 (GRCm39) |
missense |
probably benign |
0.33 |
R6028:Adck1
|
UTSW |
12 |
88,368,902 (GRCm39) |
missense |
probably benign |
|
R6199:Adck1
|
UTSW |
12 |
88,407,887 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6317:Adck1
|
UTSW |
12 |
88,368,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R6616:Adck1
|
UTSW |
12 |
88,427,958 (GRCm39) |
missense |
unknown |
|
R6715:Adck1
|
UTSW |
12 |
88,425,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R6915:Adck1
|
UTSW |
12 |
88,422,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R7295:Adck1
|
UTSW |
12 |
88,397,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Adck1
|
UTSW |
12 |
88,427,822 (GRCm39) |
missense |
probably benign |
|
R7520:Adck1
|
UTSW |
12 |
88,425,975 (GRCm39) |
critical splice donor site |
probably null |
|
R7562:Adck1
|
UTSW |
12 |
88,335,203 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7745:Adck1
|
UTSW |
12 |
88,423,570 (GRCm39) |
missense |
probably benign |
|
R7759:Adck1
|
UTSW |
12 |
88,368,887 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8092:Adck1
|
UTSW |
12 |
88,427,831 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8336:Adck1
|
UTSW |
12 |
88,335,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R9145:Adck1
|
UTSW |
12 |
88,335,193 (GRCm39) |
missense |
probably benign |
0.00 |
R9443:Adck1
|
UTSW |
12 |
88,338,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2016-08-02 |