Incidental Mutation 'IGL01370:Adck1'
| ID |
76132 |
| 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 # |
IGL01370
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
88327324-88428494 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 88423503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101165]
[ENSMUST00000166940]
[ENSMUST00000222695]
|
| AlphaFold |
Q9D0L4 |
| Predicted Effect |
probably benign
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 benign
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 benign
Transcript: ENSMUST00000222695
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add1 |
C |
T |
5: 34,787,859 (GRCm39) |
T210I |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,969 (GRCm39) |
E314G |
possibly damaging |
Het |
| Alpk2 |
A |
T |
18: 65,483,662 (GRCm39) |
D115E |
possibly damaging |
Het |
| Ankrd36 |
C |
T |
11: 5,534,019 (GRCm39) |
T290I |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,001,904 (GRCm39) |
I1283N |
probably benign |
Het |
| Castor2 |
T |
C |
5: 134,167,111 (GRCm39) |
V323A |
probably benign |
Het |
| Ccnt2 |
T |
C |
1: 127,731,250 (GRCm39) |
F709S |
possibly damaging |
Het |
| Erc1 |
T |
C |
6: 119,801,426 (GRCm39) |
E197G |
probably damaging |
Het |
| Ftsj3 |
G |
T |
11: 106,143,145 (GRCm39) |
R390S |
possibly damaging |
Het |
| Gabrb3 |
G |
A |
7: 57,466,226 (GRCm39) |
A347T |
probably benign |
Het |
| Gde1 |
A |
G |
7: 118,288,383 (GRCm39) |
|
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,438 (GRCm39) |
N489K |
probably benign |
Het |
| Kiss1r |
A |
G |
10: 79,754,658 (GRCm39) |
T51A |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,839,193 (GRCm39) |
S772G |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,364,932 (GRCm39) |
|
probably null |
Het |
| Loxl3 |
A |
G |
6: 83,026,468 (GRCm39) |
T475A |
probably damaging |
Het |
| Lpl |
A |
T |
8: 69,340,220 (GRCm39) |
S72C |
possibly damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,801,204 (GRCm39) |
I352F |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,887,585 (GRCm39) |
I334T |
possibly damaging |
Het |
| Mettl8 |
T |
G |
2: 70,812,383 (GRCm39) |
D49A |
probably damaging |
Het |
| Ms4a3 |
T |
A |
19: 11,610,245 (GRCm39) |
T106S |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,886,389 (GRCm39) |
|
probably null |
Het |
| Or14j2 |
T |
C |
17: 37,885,412 (GRCm39) |
I301V |
probably null |
Het |
| Or1o11 |
C |
A |
17: 37,756,605 (GRCm39) |
H64Q |
probably benign |
Het |
| Or1p1c |
G |
A |
11: 74,160,325 (GRCm39) |
V37I |
probably benign |
Het |
| Or4n4 |
G |
T |
14: 50,519,689 (GRCm39) |
T7K |
probably damaging |
Het |
| Or5b107 |
A |
T |
19: 13,142,663 (GRCm39) |
Y95F |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,528,222 (GRCm39) |
K1333E |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,610,891 (GRCm39) |
F364L |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,155,531 (GRCm39) |
I2438F |
probably damaging |
Het |
| Plcb3 |
A |
C |
19: 6,940,192 (GRCm39) |
V465G |
probably damaging |
Het |
| Plekho2 |
G |
T |
9: 65,465,912 (GRCm39) |
H159N |
probably damaging |
Het |
| Polr2e |
A |
G |
10: 79,872,681 (GRCm39) |
|
probably benign |
Het |
| Rab6b |
G |
T |
9: 103,041,094 (GRCm39) |
V163L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,816,607 (GRCm39) |
M597V |
probably benign |
Het |
| Rbm15 |
A |
G |
3: 107,238,326 (GRCm39) |
S691P |
probably damaging |
Het |
| Sec24b |
G |
A |
3: 129,801,253 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
A |
G |
13: 73,815,150 (GRCm39) |
I386T |
probably damaging |
Het |
| Stxbp3 |
A |
C |
3: 108,704,741 (GRCm39) |
Y497* |
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,615 (GRCm39) |
K353R |
probably damaging |
Het |
| Tbc1d10b |
A |
T |
7: 126,798,253 (GRCm39) |
H629Q |
probably damaging |
Het |
| Tbc1d5 |
T |
A |
17: 51,273,755 (GRCm39) |
I119F |
probably benign |
Het |
| Tcp11l1 |
G |
T |
2: 104,536,831 (GRCm39) |
D11E |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,175,009 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgm5 |
T |
C |
2: 120,884,018 (GRCm39) |
N325S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,910,327 (GRCm39) |
K91E |
possibly damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,715 (GRCm39) |
F763L |
probably benign |
Het |
| Washc4 |
A |
G |
10: 83,394,694 (GRCm39) |
E308G |
probably damaging |
Het |
| Xpot |
C |
A |
10: 121,440,399 (GRCm39) |
A611S |
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 |
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation