Incidental Mutation 'R7745:Adck1'
| ID |
596816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adck1
|
| Ensembl Gene |
ENSMUSG00000021044 |
| Gene Name |
aarF domain containing kinase 1 |
| Synonyms |
2610005A10Rik |
| MMRRC Submission |
045801-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7745 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
88327324-88428494 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88423570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 358
(M358L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101165]
[ENSMUST00000166940]
[ENSMUST00000222695]
|
| AlphaFold |
Q9D0L4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101165
AA Change: M358L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098724
Gene: ENSMUSG00000021044
AA Change: M358L
| 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
AA Change: M358L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127254
Gene: ENSMUSG00000021044
AA Change: M358L
| 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
AA Change: M358L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0587 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
C |
3: 59,945,893 (GRCm39) |
S188R |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,768,289 (GRCm39) |
I220N |
probably damaging |
Het |
| Abca15 |
A |
G |
7: 119,931,440 (GRCm39) |
N16S |
probably damaging |
Het |
| Adck5 |
A |
T |
15: 76,478,748 (GRCm39) |
Q345L |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,542,094 (GRCm39) |
F876S |
probably damaging |
Het |
| Aebp2 |
T |
A |
6: 140,569,584 (GRCm39) |
L55Q |
unknown |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,215,676 (GRCm39) |
V1036A |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,279,866 (GRCm39) |
D494G |
probably benign |
Het |
| Cacna1a |
C |
A |
8: 85,286,023 (GRCm39) |
H889Q |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 119,029,587 (GRCm39) |
D151G |
|
Het |
| Car8 |
A |
G |
4: 8,237,939 (GRCm39) |
V92A |
possibly damaging |
Het |
| Ccdc8 |
G |
T |
7: 16,729,614 (GRCm39) |
A368S |
unknown |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,370,013 (GRCm39) |
I877V |
probably benign |
Het |
| Copa |
A |
T |
1: 171,939,509 (GRCm39) |
D582V |
probably damaging |
Het |
| Cpne2 |
T |
G |
8: 95,295,312 (GRCm39) |
S466A |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,816,156 (GRCm39) |
K1311R |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 15,982,461 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,342,144 (GRCm39) |
C2947* |
probably null |
Het |
| Exoc1 |
A |
T |
5: 76,709,359 (GRCm39) |
K656* |
probably null |
Het |
| Exoc8 |
T |
C |
8: 125,622,558 (GRCm39) |
N603S |
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,226,483 (GRCm39) |
C539S |
possibly damaging |
Het |
| Fastkd5 |
A |
T |
2: 130,456,988 (GRCm39) |
I534K |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,145,115 (GRCm39) |
D2708G |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,618,250 (GRCm39) |
L1392P |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,874,754 (GRCm39) |
T2306S |
probably benign |
Het |
| Gdf7 |
G |
T |
12: 8,351,854 (GRCm39) |
A27E |
unknown |
Het |
| Hnrnph1 |
A |
T |
11: 50,270,324 (GRCm39) |
I43F |
probably damaging |
Het |
| Igkv8-27 |
T |
A |
6: 70,148,999 (GRCm39) |
S52C |
probably benign |
Het |
| Jmjd1c |
T |
C |
10: 67,052,824 (GRCm39) |
F24L |
probably damaging |
Het |
| Knl1 |
T |
G |
2: 118,902,037 (GRCm39) |
L1246R |
probably benign |
Het |
| Limk2 |
C |
T |
11: 3,305,896 (GRCm39) |
S191N |
probably damaging |
Het |
| Mdga2 |
G |
A |
12: 66,736,124 (GRCm39) |
A368V |
probably damaging |
Het |
| Mdga2 |
C |
A |
12: 66,736,125 (GRCm39) |
A368S |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,595,793 (GRCm39) |
L966Q |
probably damaging |
Het |
| Mgll |
T |
C |
6: 88,702,770 (GRCm39) |
V23A |
possibly damaging |
Het |
| Nedd1 |
C |
T |
10: 92,550,034 (GRCm39) |
D84N |
probably benign |
Het |
| Obscn |
A |
C |
11: 58,951,681 (GRCm39) |
L4024R |
probably damaging |
Het |
| Or5k1b |
A |
T |
16: 58,580,782 (GRCm39) |
Y252* |
probably null |
Het |
| Pcnx2 |
T |
C |
8: 126,577,846 (GRCm39) |
I944V |
probably benign |
Het |
| Pecr |
T |
C |
1: 72,306,157 (GRCm39) |
|
probably null |
Het |
| Phf3 |
A |
T |
1: 30,843,305 (GRCm39) |
W1885R |
probably damaging |
Het |
| Pitpnm2 |
C |
G |
5: 124,266,768 (GRCm39) |
A697P |
probably benign |
Het |
| Piwil2 |
T |
A |
14: 70,631,638 (GRCm39) |
H602L |
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,053,781 (GRCm39) |
S1104P |
unknown |
Het |
| Prkar1a |
T |
A |
11: 109,544,673 (GRCm39) |
Y21* |
probably null |
Het |
| Prl2c3 |
A |
T |
13: 12,813,186 (GRCm39) |
Y9* |
probably null |
Het |
| Rhbdl3 |
T |
A |
11: 80,214,405 (GRCm39) |
L172Q |
possibly damaging |
Het |
| Rsph3a |
T |
G |
17: 8,198,075 (GRCm39) |
L484W |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,962 (GRCm39) |
S809T |
probably benign |
Het |
| Stmnd1 |
T |
A |
13: 46,453,077 (GRCm39) |
V251E |
possibly damaging |
Het |
| Stt3a |
A |
T |
9: 36,662,535 (GRCm39) |
C241* |
probably null |
Het |
| Tas2r114 |
A |
T |
6: 131,666,401 (GRCm39) |
M209K |
probably damaging |
Het |
| Tchh |
G |
T |
3: 93,352,084 (GRCm39) |
R508L |
unknown |
Het |
| Tgfbr3l |
T |
C |
8: 4,300,622 (GRCm39) |
S267P |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,598,144 (GRCm39) |
I19590F |
probably damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,035 (GRCm39) |
T87A |
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 |
|
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 |
|
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'- GGTCCCTTTGAACTCATGCC -3'
(R):5'- AGACACTTAGACACTGGGTTG -3'
Sequencing Primer
(F):5'- TGAACTCATGCCCTCAGATGG -3'
(R):5'- GGAAGAGGTCCCTAGGCATCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation