Incidental Mutation 'R6715:Adck1'
ID |
529302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adck1
|
Ensembl Gene |
ENSMUSG00000021044 |
Gene Name |
aarF domain containing kinase 1 |
Synonyms |
2610005A10Rik |
MMRRC Submission |
044833-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6715 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
88327324-88428494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 88425850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 426
(R426H)
|
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: R426H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098724 Gene: ENSMUSG00000021044 AA Change: R426H
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: R426H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127254 Gene: ENSMUSG00000021044 AA Change: R426H
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 |
probably damaging
Transcript: ENSMUST00000222695
AA Change: R426H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223538
|
Meta Mutation Damage Score |
0.2793 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arl2 |
G |
A |
19: 6,187,555 (GRCm39) |
R98C |
probably damaging |
Het |
Atm |
A |
G |
9: 53,442,948 (GRCm39) |
I105T |
probably damaging |
Het |
Cnnm2 |
G |
A |
19: 46,842,412 (GRCm39) |
G565E |
probably damaging |
Het |
Ddx60 |
G |
A |
8: 62,436,924 (GRCm39) |
G958D |
probably benign |
Het |
Fbxo2 |
T |
A |
4: 148,250,226 (GRCm39) |
M252K |
probably benign |
Het |
Filip1 |
C |
A |
9: 79,726,040 (GRCm39) |
A860S |
probably benign |
Het |
Gm11992 |
C |
A |
11: 9,011,214 (GRCm39) |
S218R |
probably damaging |
Het |
Gnb3 |
A |
G |
6: 124,814,691 (GRCm39) |
L69P |
possibly damaging |
Het |
Gpr18 |
T |
G |
14: 122,149,389 (GRCm39) |
H212P |
possibly damaging |
Het |
Iqcb1 |
T |
C |
16: 36,655,991 (GRCm39) |
F126S |
probably damaging |
Het |
Katnip |
C |
T |
7: 125,361,001 (GRCm39) |
Q104* |
probably null |
Het |
Kcnh1 |
A |
G |
1: 192,019,949 (GRCm39) |
D425G |
probably benign |
Het |
Kdm5b |
T |
A |
1: 134,536,799 (GRCm39) |
|
probably null |
Het |
Mcm3ap |
C |
T |
10: 76,325,366 (GRCm39) |
T989M |
possibly damaging |
Het |
Mtor |
T |
C |
4: 148,623,004 (GRCm39) |
C1999R |
probably benign |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Myof |
A |
T |
19: 37,956,794 (GRCm39) |
D508E |
probably benign |
Het |
Or52b2 |
A |
T |
7: 104,986,539 (GRCm39) |
I128N |
probably damaging |
Het |
Or56b2j |
G |
A |
7: 104,353,163 (GRCm39) |
V130M |
possibly damaging |
Het |
Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
Osbpl7 |
A |
G |
11: 96,945,425 (GRCm39) |
H266R |
probably damaging |
Het |
Pear1 |
T |
C |
3: 87,666,424 (GRCm39) |
Y93C |
probably damaging |
Het |
Pgr |
A |
G |
9: 8,965,000 (GRCm39) |
H881R |
possibly damaging |
Het |
Rfx1 |
A |
G |
8: 84,822,444 (GRCm39) |
E914G |
possibly damaging |
Het |
Samm50 |
T |
C |
15: 84,095,259 (GRCm39) |
I415T |
probably benign |
Het |
Snx7 |
T |
C |
3: 117,575,985 (GRCm39) |
D434G |
possibly damaging |
Het |
Susd4 |
G |
A |
1: 182,719,602 (GRCm39) |
V406M |
probably benign |
Het |
Syt15 |
G |
T |
14: 33,944,819 (GRCm39) |
G122V |
probably damaging |
Het |
Tlr5 |
A |
G |
1: 182,800,224 (GRCm39) |
|
probably benign |
Het |
Ttc6 |
T |
C |
12: 57,721,556 (GRCm39) |
|
probably null |
Het |
Vmn1r211 |
C |
A |
13: 23,035,949 (GRCm39) |
M239I |
probably benign |
Het |
Vps37a |
G |
T |
8: 40,993,902 (GRCm39) |
|
probably null |
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 |
|
IGL03196:Adck1
|
APN |
12 |
88,397,885 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCTAGAAGCTCCTACCTGG -3'
(R):5'- TCCTAAAGATCGAACGGTGGG -3'
Sequencing Primer
(F):5'- TCCTACCTGGAGCTTATTTGTG -3'
(R):5'- CAGGGCCCATGGGATAGTC -3'
|
Posted On |
2018-07-24 |