Incidental Mutation 'PIT4469001:Ak3'
| ID |
555844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak3
|
| Ensembl Gene |
ENSMUSG00000024782 |
| Gene Name |
adenylate kinase 3 |
| Synonyms |
AK-3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
PIT4469001 (G1)
|
| Quality Score |
136.008 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
28998233-29025361 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29025157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 25
(S25P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025696]
|
| AlphaFold |
Q9WTP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025696
AA Change: S25P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025696
Gene: ENSMUSG00000024782
AA Change: S25P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_17
|
9 |
172 |
2.4e-7 |
PFAM |
|
Pfam:ADK
|
12 |
192 |
2.6e-52 |
PFAM |
|
Pfam:ADK_lid
|
128 |
163 |
4.3e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 71.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
A |
G |
1: 85,652,920 (GRCm39) |
F83L |
probably benign |
Het |
| Acsm2 |
T |
A |
7: 119,177,408 (GRCm39) |
C308S |
possibly damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,721,438 (GRCm39) |
V176E |
unknown |
Het |
| Bmper |
A |
T |
9: 23,317,845 (GRCm39) |
H488L |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,572,933 (GRCm39) |
C2084S |
unknown |
Het |
| Ccp110 |
T |
A |
7: 118,321,600 (GRCm39) |
N418K |
probably benign |
Het |
| Ddx17 |
C |
A |
15: 79,428,014 (GRCm39) |
G32C |
probably damaging |
Het |
| Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
| Dusp16 |
G |
A |
6: 134,738,115 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
G |
7: 82,307,373 (GRCm39) |
F90V |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,910,011 (GRCm39) |
N252K |
probably damaging |
Het |
| Gdf6 |
T |
C |
4: 9,859,569 (GRCm39) |
V217A |
probably damaging |
Het |
| H1f4 |
A |
T |
13: 23,806,362 (GRCm39) |
V40E |
probably damaging |
Het |
| Hint1 |
T |
A |
11: 54,760,896 (GRCm39) |
S112T |
unknown |
Het |
| Kif5c |
T |
C |
2: 49,631,360 (GRCm39) |
V679A |
probably benign |
Het |
| Lrrn3 |
A |
T |
12: 41,503,017 (GRCm39) |
D433E |
probably benign |
Het |
| Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
| Naa11 |
A |
G |
5: 97,539,485 (GRCm39) |
|
probably null |
Het |
| Pcdh18 |
T |
A |
3: 49,709,518 (GRCm39) |
H599L |
probably benign |
Het |
| Pgc |
A |
T |
17: 48,039,680 (GRCm39) |
K25* |
probably null |
Het |
| Pramel58 |
T |
A |
5: 94,830,652 (GRCm39) |
V50E |
probably damaging |
Het |
| Psd4 |
G |
A |
2: 24,284,306 (GRCm39) |
D57N |
probably benign |
Het |
| Pxdn |
G |
A |
12: 30,055,828 (GRCm39) |
R1238Q |
probably benign |
Het |
| Smim41 |
T |
C |
15: 101,191,152 (GRCm39) |
V6A |
probably benign |
Het |
| Spata32 |
T |
C |
11: 103,100,653 (GRCm39) |
N38S |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,279,707 (GRCm39) |
T279A |
probably benign |
Het |
| Unc13a |
C |
A |
8: 72,110,958 (GRCm39) |
E418* |
probably null |
Het |
| Vmn2r97 |
C |
A |
17: 19,149,878 (GRCm39) |
T422K |
probably benign |
Het |
| Zfp474 |
A |
T |
18: 52,771,791 (GRCm39) |
Q148L |
possibly damaging |
Het |
|
| Other mutations in Ak3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03162:Ak3
|
APN |
19 |
29,000,236 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
PIT4243001:Ak3
|
UTSW |
19 |
29,015,271 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0277:Ak3
|
UTSW |
19 |
29,025,192 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0855:Ak3
|
UTSW |
19 |
29,000,345 (GRCm39) |
missense |
probably benign |
|
|
R1747:Ak3
|
UTSW |
19 |
29,000,261 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2141:Ak3
|
UTSW |
19 |
29,000,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3979:Ak3
|
UTSW |
19 |
29,025,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Ak3
|
UTSW |
19 |
29,025,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6207:Ak3
|
UTSW |
19 |
29,000,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6702:Ak3
|
UTSW |
19 |
29,003,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Ak3
|
UTSW |
19 |
29,025,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8969:Ak3
|
UTSW |
19 |
29,025,094 (GRCm39) |
missense |
probably benign |
|
|
R9573:Ak3
|
UTSW |
19 |
29,003,667 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAGCTGTGTCGAATGAG -3'
(R):5'- CTAGAAGTAGAACGGGGTGCTC -3'
Sequencing Primer
(F):5'- GCTGTGTCGAATGAGCTTCTAAAAAC -3'
(R):5'- GTGCTCAGAGGTTGTCCAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation