Incidental Mutation 'R7520:Adck1'
ID |
582642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adck1
|
Ensembl Gene |
ENSMUSG00000021044 |
Gene Name |
aarF domain containing kinase 1 |
Synonyms |
2610005A10Rik |
MMRRC Submission |
045592-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7520 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
88327324-88428494 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 88425975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101165]
[ENSMUST00000166940]
[ENSMUST00000222695]
|
AlphaFold |
Q9D0L4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000101165
|
SMART Domains |
Protein: ENSMUSP00000098724 Gene: ENSMUSG00000021044
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 null
Transcript: ENSMUST00000166940
|
SMART Domains |
Protein: ENSMUSP00000127254 Gene: ENSMUSG00000021044
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 null
Transcript: ENSMUST00000222695
|
Meta Mutation Damage Score |
0.9496 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
C |
4: 144,281,859 (GRCm39) |
Y311C |
probably damaging |
Het |
Abca1 |
A |
T |
4: 53,078,114 (GRCm39) |
I886N |
probably benign |
Het |
Adamts6 |
A |
G |
13: 104,433,694 (GRCm39) |
H41R |
probably benign |
Het |
Atat1 |
G |
T |
17: 36,208,706 (GRCm39) |
T398K |
probably benign |
Het |
Bahcc1 |
A |
G |
11: 120,167,031 (GRCm39) |
E1144G |
possibly damaging |
Het |
Cand2 |
G |
T |
6: 115,762,212 (GRCm39) |
E213* |
probably null |
Het |
Cep350 |
A |
G |
1: 155,791,375 (GRCm39) |
S1250P |
probably benign |
Het |
Cln3 |
A |
G |
7: 126,180,852 (GRCm39) |
L63P |
probably damaging |
Het |
Col4a4 |
A |
T |
1: 82,484,808 (GRCm39) |
C486* |
probably null |
Het |
Ctnnal1 |
A |
T |
4: 56,837,838 (GRCm39) |
M264K |
probably damaging |
Het |
Ddr2 |
T |
A |
1: 169,812,008 (GRCm39) |
D738V |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,104,887 (GRCm39) |
M1901V |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,345,255 (GRCm39) |
T2200A |
probably benign |
Het |
Dolk |
A |
G |
2: 30,174,555 (GRCm39) |
Y497H |
probably benign |
Het |
Drd5 |
T |
C |
5: 38,478,195 (GRCm39) |
V396A |
probably benign |
Het |
Epsti1 |
A |
T |
14: 78,200,883 (GRCm39) |
|
probably null |
Het |
Erich3 |
A |
G |
3: 154,468,763 (GRCm39) |
T1072A |
unknown |
Het |
Ero1a |
A |
T |
14: 45,544,032 (GRCm39) |
N57K |
probably damaging |
Het |
Exph5 |
T |
C |
9: 53,278,514 (GRCm39) |
|
probably null |
Het |
Frmd5 |
C |
T |
2: 121,384,745 (GRCm39) |
|
probably null |
Het |
H2-Q7 |
A |
G |
17: 35,661,686 (GRCm39) |
T310A |
probably benign |
Het |
Hecw2 |
G |
T |
1: 53,965,215 (GRCm39) |
A537E |
probably benign |
Het |
Itga4 |
A |
T |
2: 79,131,333 (GRCm39) |
D567V |
probably damaging |
Het |
Kcnu1 |
A |
T |
8: 26,375,368 (GRCm39) |
N361Y |
probably damaging |
Het |
Keap1 |
A |
G |
9: 21,144,787 (GRCm39) |
S408P |
probably benign |
Het |
Mamdc4 |
T |
A |
2: 25,455,360 (GRCm39) |
I928F |
possibly damaging |
Het |
Mboat4 |
T |
C |
8: 34,591,028 (GRCm39) |
F155S |
probably benign |
Het |
Mtbp |
A |
G |
15: 55,440,742 (GRCm39) |
|
probably benign |
Het |
Nmi |
T |
G |
2: 51,842,492 (GRCm39) |
K200T |
probably benign |
Het |
Or2n1e |
G |
A |
17: 38,586,331 (GRCm39) |
C223Y |
probably benign |
Het |
Or8g19 |
G |
T |
9: 39,055,414 (GRCm39) |
R6L |
probably benign |
Het |
Pcdha7 |
G |
A |
18: 37,108,366 (GRCm39) |
V464M |
probably damaging |
Het |
Peg10 |
T |
A |
6: 4,756,796 (GRCm39) |
N457K |
unknown |
Het |
Plekha7 |
A |
T |
7: 115,736,519 (GRCm39) |
I944N |
possibly damaging |
Het |
Plpp1 |
T |
A |
13: 112,937,781 (GRCm39) |
D13E |
possibly damaging |
Het |
Pnpla6 |
G |
T |
8: 3,587,508 (GRCm39) |
V1070F |
probably damaging |
Het |
Riox1 |
T |
A |
12: 83,998,545 (GRCm39) |
Y360* |
probably null |
Het |
Sdhb |
A |
G |
4: 140,693,882 (GRCm39) |
D50G |
possibly damaging |
Het |
Slc35f2 |
T |
A |
9: 53,708,385 (GRCm39) |
V126D |
possibly damaging |
Het |
Slmap |
A |
G |
14: 26,148,575 (GRCm39) |
V612A |
probably benign |
Het |
Snap91 |
T |
A |
9: 86,721,702 (GRCm39) |
I46F |
probably damaging |
Het |
Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
Taar7b |
T |
C |
10: 23,876,381 (GRCm39) |
L182P |
probably damaging |
Het |
Tmc1 |
T |
A |
19: 20,776,542 (GRCm39) |
M606L |
probably damaging |
Het |
Trpm8 |
T |
A |
1: 88,271,043 (GRCm39) |
D444E |
probably benign |
Het |
Tsen54 |
A |
G |
11: 115,711,797 (GRCm39) |
T405A |
probably damaging |
Het |
Ttll5 |
T |
C |
12: 85,946,245 (GRCm39) |
W492R |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,728,123 (GRCm39) |
T5566S |
unknown |
Het |
Utp20 |
A |
T |
10: 88,654,457 (GRCm39) |
M210K |
probably damaging |
Het |
Zfand1 |
A |
G |
3: 10,411,009 (GRCm39) |
V115A |
probably damaging |
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 |
|
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 |
|
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'- CCCCTTGCTGCTATTAGGAC -3'
(R):5'- AGCATTTTAGGCCACCCAAAG -3'
Sequencing Primer
(F):5'- CTGCTATTAGGACTCAGAGATTCGC -3'
(R):5'- GACACTGTCTCAAGGCATCTG -3'
|
Posted On |
2019-10-17 |