Incidental Mutation 'R1107:Adck2'
| ID |
98510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adck2
|
| Ensembl Gene |
ENSMUSG00000046947 |
| Gene Name |
aarF domain containing kinase 2 |
| Synonyms |
|
| MMRRC Submission |
039180-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
39550807-39565703 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39562719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 530
(V530A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051249]
[ENSMUST00000140364]
[ENSMUST00000145788]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051249
AA Change: V481A
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000050256
Gene: ENSMUSG00000046947
AA Change: V481A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
502 |
518 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126621
AA Change: V11A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128218
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140364
AA Change: V530A
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123563
Gene: ENSMUSG00000046947
AA Change: V530A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
124 |
N/A |
INTRINSIC |
|
Pfam:ABC1
|
289 |
380 |
5.4e-18 |
PFAM |
|
low complexity region
|
551 |
567 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145788
|
| SMART Domains |
Protein: ENSMUSP00000144149
Gene: ENSMUSG00000046947
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC1
|
1 |
67 |
4e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149304
|
| SMART Domains |
Protein: ENSMUSP00000121590
Gene: ENSMUSG00000046947
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ABC1
|
1 |
69 |
1.4e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apba2 |
G |
A |
7: 64,395,467 (GRCm39) |
V636I |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,587,615 (GRCm39) |
A625V |
probably damaging |
Het |
| Ccdc134 |
C |
A |
15: 82,018,892 (GRCm39) |
R141S |
possibly damaging |
Het |
| Ccdc134 |
T |
A |
15: 82,018,895 (GRCm39) |
W142R |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,665,734 (GRCm39) |
E697G |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,342,624 (GRCm38) |
C414S |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,745,238 (GRCm39) |
N1778T |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,393,304 (GRCm39) |
Y2683C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,564,791 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,727,883 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
C |
A |
4: 117,142,587 (GRCm39) |
G114V |
probably damaging |
Het |
| Tasor |
C |
T |
14: 27,201,680 (GRCm39) |
Q49* |
probably null |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
probably damaging |
Het |
|
| Other mutations in Adck2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01356:Adck2
|
APN |
6 |
39,560,854 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02369:Adck2
|
APN |
6 |
39,551,678 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02956:Adck2
|
APN |
6 |
39,553,436 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0240:Adck2
|
UTSW |
6 |
39,560,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0240:Adck2
|
UTSW |
6 |
39,560,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0241:Adck2
|
UTSW |
6 |
39,560,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0241:Adck2
|
UTSW |
6 |
39,560,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1691:Adck2
|
UTSW |
6 |
39,551,902 (GRCm39) |
nonsense |
probably null |
|
|
R2125:Adck2
|
UTSW |
6 |
39,552,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2206:Adck2
|
UTSW |
6 |
39,560,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2422:Adck2
|
UTSW |
6 |
39,560,932 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4795:Adck2
|
UTSW |
6 |
39,553,327 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5556:Adck2
|
UTSW |
6 |
39,560,869 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6402:Adck2
|
UTSW |
6 |
39,563,803 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6824:Adck2
|
UTSW |
6 |
39,552,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6927:Adck2
|
UTSW |
6 |
39,560,998 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7163:Adck2
|
UTSW |
6 |
39,560,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8249:Adck2
|
UTSW |
6 |
39,562,667 (GRCm39) |
nonsense |
probably null |
|
|
R8775:Adck2
|
UTSW |
6 |
39,552,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8775-TAIL:Adck2
|
UTSW |
6 |
39,552,142 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8958:Adck2
|
UTSW |
6 |
39,560,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8964:Adck2
|
UTSW |
6 |
39,551,083 (GRCm39) |
unclassified |
probably benign |
|
|
R9446:Adck2
|
UTSW |
6 |
39,551,221 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Adck2
|
UTSW |
6 |
39,551,022 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGCTGTCCTAGCAGAGTCCTTG -3'
(R):5'- AGAAGCCTGTAATTTCAGTTGGCCC -3'
Sequencing Primer
(F):5'- GTCCTAGCAGAGTCCTTGAAATC -3'
(R):5'- tggtaggcagaggcagg -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation