Incidental Mutation 'IGL01994:Adck1'
ID |
183613 |
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 # |
IGL01994
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
88327324-88428494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88397926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 187
(S187P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101165]
[ENSMUST00000166940]
[ENSMUST00000222695]
|
AlphaFold |
Q9D0L4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101165
AA Change: S187P
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000098724 Gene: ENSMUSG00000021044 AA Change: S187P
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 |
possibly damaging
Transcript: ENSMUST00000166940
AA Change: S187P
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000127254 Gene: ENSMUSG00000021044 AA Change: S187P
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 |
possibly damaging
Transcript: ENSMUST00000222695
AA Change: S187P
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn2 |
A |
T |
13: 12,305,563 (GRCm39) |
Y418N |
probably benign |
Het |
Adam15 |
T |
C |
3: 89,248,812 (GRCm39) |
|
probably benign |
Het |
Adam32 |
C |
A |
8: 25,392,812 (GRCm39) |
|
probably benign |
Het |
Adamts12 |
T |
A |
15: 11,345,680 (GRCm39) |
C1574S |
probably damaging |
Het |
Atp13a3 |
A |
G |
16: 30,156,336 (GRCm39) |
V949A |
possibly damaging |
Het |
Atxn3 |
T |
C |
12: 101,908,439 (GRCm39) |
T138A |
probably benign |
Het |
Atxn7l2 |
C |
T |
3: 108,110,859 (GRCm39) |
R559Q |
probably damaging |
Het |
Bicra |
G |
T |
7: 15,706,741 (GRCm39) |
S1233R |
possibly damaging |
Het |
Cacybp |
G |
T |
1: 160,034,206 (GRCm39) |
N101K |
probably damaging |
Het |
Cops7b |
T |
C |
1: 86,528,828 (GRCm39) |
L185P |
probably damaging |
Het |
Cttnbp2 |
T |
C |
6: 18,420,814 (GRCm39) |
D899G |
possibly damaging |
Het |
Cyp4f37 |
C |
T |
17: 32,844,150 (GRCm39) |
R85* |
probably null |
Het |
Dnah3 |
T |
G |
7: 119,550,437 (GRCm39) |
N3294T |
possibly damaging |
Het |
Elmo1 |
T |
A |
13: 20,526,634 (GRCm39) |
Y395N |
probably damaging |
Het |
Fam234b |
T |
A |
6: 135,202,203 (GRCm39) |
Y308* |
probably null |
Het |
Fam43a |
A |
G |
16: 30,419,481 (GRCm39) |
K22E |
probably damaging |
Het |
Fcer2a |
T |
C |
8: 3,738,302 (GRCm39) |
N123D |
possibly damaging |
Het |
Gm11595 |
A |
G |
11: 99,663,027 (GRCm39) |
C218R |
unknown |
Het |
Gria4 |
T |
C |
9: 4,537,726 (GRCm39) |
Y194C |
probably damaging |
Het |
Grin2d |
T |
C |
7: 45,507,396 (GRCm39) |
E435G |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,844,725 (GRCm39) |
E506G |
probably damaging |
Het |
Htt |
G |
A |
5: 34,989,948 (GRCm39) |
S1160N |
possibly damaging |
Het |
Ift140 |
A |
G |
17: 25,267,417 (GRCm39) |
E605G |
probably damaging |
Het |
Il17re |
T |
C |
6: 113,445,411 (GRCm39) |
V374A |
probably benign |
Het |
Ippk |
A |
G |
13: 49,612,093 (GRCm39) |
Q439R |
possibly damaging |
Het |
Itgam |
G |
A |
7: 127,700,899 (GRCm39) |
V530M |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,931,429 (GRCm39) |
H47R |
possibly damaging |
Het |
Klk1b24 |
A |
T |
7: 43,841,057 (GRCm39) |
I162F |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,059,434 (GRCm39) |
T606S |
probably benign |
Het |
Lama2 |
C |
T |
10: 27,343,199 (GRCm39) |
|
probably null |
Het |
Lrp2 |
A |
G |
2: 69,313,945 (GRCm39) |
I2262T |
probably benign |
Het |
Mamdc4 |
A |
T |
2: 25,458,546 (GRCm39) |
I317N |
possibly damaging |
Het |
Mtmr3 |
G |
T |
11: 4,437,938 (GRCm39) |
H839N |
probably benign |
Het |
Ncr1 |
G |
T |
7: 4,344,253 (GRCm39) |
V177F |
probably benign |
Het |
Nop58 |
T |
C |
1: 59,743,242 (GRCm39) |
S219P |
probably damaging |
Het |
Nrg3 |
T |
C |
14: 38,734,043 (GRCm39) |
Y281C |
probably damaging |
Het |
Nsf |
A |
G |
11: 103,819,608 (GRCm39) |
S54P |
probably damaging |
Het |
Or56b6 |
A |
T |
7: 104,925,153 (GRCm39) |
|
noncoding transcript |
Het |
Or6k8-ps1 |
T |
A |
1: 173,979,102 (GRCm39) |
S7T |
probably benign |
Het |
Plxnc1 |
T |
C |
10: 94,685,801 (GRCm39) |
K730R |
probably damaging |
Het |
Polr2g |
A |
T |
19: 8,771,740 (GRCm39) |
|
probably benign |
Het |
Rps13 |
A |
G |
7: 115,932,925 (GRCm39) |
|
probably benign |
Het |
Scgb2b7 |
A |
G |
7: 31,403,409 (GRCm39) |
I99T |
probably benign |
Het |
Slc22a27 |
G |
T |
19: 7,887,108 (GRCm39) |
H260Q |
possibly damaging |
Het |
Spata18 |
G |
T |
5: 73,814,944 (GRCm39) |
|
probably null |
Het |
Tns2 |
A |
G |
15: 102,019,814 (GRCm39) |
E560G |
possibly damaging |
Het |
Trbv16 |
T |
C |
6: 41,128,715 (GRCm39) |
|
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,851,520 (GRCm39) |
I1829N |
probably damaging |
Het |
Vcl |
C |
T |
14: 21,053,311 (GRCm39) |
T442I |
probably damaging |
Het |
Vmn2r102 |
T |
A |
17: 19,880,731 (GRCm39) |
I24N |
probably benign |
Het |
Vmn2r114 |
T |
C |
17: 23,529,451 (GRCm39) |
D217G |
probably damaging |
Het |
Vmn2r58 |
A |
G |
7: 41,486,394 (GRCm39) |
Y834H |
probably damaging |
Het |
Zdhhc8 |
G |
T |
16: 18,045,636 (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 |
|
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 |
|
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 |
2014-05-07 |