Incidental Mutation 'IGL02089:Adck1'
ID |
279364 |
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 # |
IGL02089
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
88327324-88428494 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 88413480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 271
(V271F)
|
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: V271F
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000098724 Gene: ENSMUSG00000021044 AA Change: V271F
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: V271F
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127254 Gene: ENSMUSG00000021044 AA Change: V271F
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: ENSMUST00000221624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222124
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222695
AA Change: V271F
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330160F10Rik |
C |
T |
11: 68,951,013 (GRCm39) |
|
silent |
Het |
Aggf1 |
T |
C |
13: 95,507,437 (GRCm39) |
D116G |
probably benign |
Het |
Anapc1 |
A |
T |
2: 128,505,853 (GRCm39) |
V661E |
probably damaging |
Het |
Apoa5 |
T |
C |
9: 46,180,437 (GRCm39) |
|
probably null |
Het |
Atp8a2 |
C |
T |
14: 60,264,369 (GRCm39) |
|
probably null |
Het |
Bnipl |
A |
T |
3: 95,157,577 (GRCm39) |
|
probably benign |
Het |
Cbs |
T |
G |
17: 31,834,519 (GRCm39) |
D490A |
probably benign |
Het |
Chrdl1 |
G |
T |
X: 142,086,510 (GRCm39) |
H199N |
possibly damaging |
Het |
Dcaf1 |
C |
T |
9: 106,740,310 (GRCm39) |
T1232I |
probably benign |
Het |
Ddx19b |
T |
C |
8: 111,735,477 (GRCm39) |
|
probably benign |
Het |
Ephb4 |
A |
G |
5: 137,369,024 (GRCm39) |
K805E |
probably damaging |
Het |
Ergic3 |
A |
G |
2: 155,852,395 (GRCm39) |
N135D |
probably benign |
Het |
Fbxw18 |
C |
T |
9: 109,530,390 (GRCm39) |
V74I |
probably benign |
Het |
Fmo4 |
G |
T |
1: 162,626,649 (GRCm39) |
T299N |
probably benign |
Het |
Gmeb1 |
T |
C |
4: 131,953,147 (GRCm39) |
K540E |
probably damaging |
Het |
H60c |
T |
A |
10: 3,209,826 (GRCm39) |
S154C |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,388,151 (GRCm39) |
L3812S |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,261,724 (GRCm39) |
D937G |
probably damaging |
Het |
Ift122 |
A |
G |
6: 115,902,398 (GRCm39) |
D1079G |
probably benign |
Het |
Il6st |
T |
C |
13: 112,631,774 (GRCm39) |
W438R |
probably benign |
Het |
Lypla2 |
C |
T |
4: 135,696,932 (GRCm39) |
V117I |
probably benign |
Het |
Mapk8ip1 |
T |
C |
2: 92,216,220 (GRCm39) |
Y516C |
probably damaging |
Het |
Mmp24 |
G |
A |
2: 155,654,213 (GRCm39) |
G397D |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,570,131 (GRCm39) |
S397N |
possibly damaging |
Het |
Muc5b |
T |
G |
7: 141,416,987 (GRCm39) |
V3311G |
probably benign |
Het |
Naca |
A |
G |
10: 127,872,358 (GRCm39) |
|
probably benign |
Het |
Nrxn1 |
A |
G |
17: 91,395,829 (GRCm39) |
V109A |
probably benign |
Het |
Nup210 |
T |
G |
6: 91,053,680 (GRCm39) |
D279A |
probably benign |
Het |
Or10g6 |
A |
T |
9: 39,934,066 (GRCm39) |
I126F |
probably damaging |
Het |
Or8h7 |
A |
G |
2: 86,721,460 (GRCm39) |
S20P |
possibly damaging |
Het |
Pappa |
T |
A |
4: 65,074,361 (GRCm39) |
V305E |
possibly damaging |
Het |
Pcdh19 |
A |
T |
X: 132,489,245 (GRCm39) |
M977K |
probably benign |
Het |
Pdzph1 |
T |
A |
17: 59,274,334 (GRCm39) |
I837F |
possibly damaging |
Het |
Phip |
A |
T |
9: 82,753,372 (GRCm39) |
L1791M |
probably damaging |
Het |
Pkdrej |
C |
T |
15: 85,700,489 (GRCm39) |
V1816I |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 23,033,447 (GRCm39) |
V1063M |
probably damaging |
Het |
Qprt |
A |
T |
7: 126,707,528 (GRCm39) |
M220K |
probably damaging |
Het |
R3hcc1 |
T |
C |
14: 69,937,475 (GRCm39) |
K391E |
possibly damaging |
Het |
Rbbp7 |
C |
A |
X: 161,554,052 (GRCm39) |
P162Q |
probably benign |
Het |
Rev3l |
A |
T |
10: 39,701,095 (GRCm39) |
N1864I |
probably damaging |
Het |
Rims1 |
A |
G |
1: 22,669,556 (GRCm39) |
I84T |
possibly damaging |
Het |
Rnase2b |
A |
T |
14: 51,400,240 (GRCm39) |
K107I |
probably benign |
Het |
Sbf1 |
C |
A |
15: 89,186,708 (GRCm39) |
E864* |
probably null |
Het |
Strip2 |
G |
A |
6: 29,917,179 (GRCm39) |
|
probably benign |
Het |
Stx4a |
T |
C |
7: 127,447,570 (GRCm39) |
I238T |
probably damaging |
Het |
Tbc1d2b |
C |
T |
9: 90,104,412 (GRCm39) |
V577I |
possibly damaging |
Het |
Tex38 |
T |
C |
4: 115,637,591 (GRCm39) |
T71A |
possibly damaging |
Het |
Usp38 |
T |
C |
8: 81,712,343 (GRCm39) |
E564G |
possibly damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
Wwp2 |
T |
A |
8: 108,280,689 (GRCm39) |
L644Q |
probably damaging |
Het |
Zfp267 |
T |
C |
3: 36,218,877 (GRCm39) |
F300S |
possibly damaging |
Het |
Zpld1 |
A |
G |
16: 55,071,974 (GRCm39) |
I95T |
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 |
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 |
2015-04-16 |