Incidental Mutation 'R1346:Ak5'
ID |
156496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ak5
|
Ensembl Gene |
ENSMUSG00000039058 |
Gene Name |
adenylate kinase 5 |
Synonyms |
|
MMRRC Submission |
039411-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R1346 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
152168461-152373992 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 152239071 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 301
(D301E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042785
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045262]
|
AlphaFold |
Q920P5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045262
AA Change: D301E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042785 Gene: ENSMUSG00000039058 AA Change: D301E
Domain | Start | End | E-Value | Type |
Pfam:AAA_17
|
134 |
263 |
1.1e-8 |
PFAM |
Pfam:AAA_18
|
135 |
274 |
3e-10 |
PFAM |
Pfam:ADK
|
137 |
294 |
5.8e-35 |
PFAM |
Pfam:AAA_17
|
378 |
525 |
2.9e-8 |
PFAM |
Pfam:ADK
|
381 |
537 |
1.9e-45 |
PFAM |
|
Meta Mutation Damage Score |
0.1383 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.1%
|
Validation Efficiency |
98% (43/44) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
C |
A |
14: 32,382,771 (GRCm39) |
A1065S |
probably benign |
Het |
Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
Arap3 |
A |
T |
18: 38,108,971 (GRCm39) |
C1228S |
probably damaging |
Het |
Arfgef1 |
T |
C |
1: 10,229,958 (GRCm39) |
T1248A |
probably benign |
Het |
Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
Bdp1 |
G |
A |
13: 100,215,263 (GRCm39) |
Q374* |
probably null |
Het |
Cacng6 |
G |
T |
7: 3,483,438 (GRCm39) |
W255C |
possibly damaging |
Het |
Camta2 |
T |
C |
11: 70,567,293 (GRCm39) |
K628R |
possibly damaging |
Het |
Catsperg1 |
A |
T |
7: 28,881,759 (GRCm39) |
|
probably null |
Het |
Cers4 |
A |
G |
8: 4,565,632 (GRCm39) |
E26G |
probably damaging |
Het |
Chfr |
A |
G |
5: 110,288,313 (GRCm39) |
D76G |
probably damaging |
Het |
Chrng |
C |
A |
1: 87,135,985 (GRCm39) |
Q245K |
probably benign |
Het |
Cnn2 |
T |
C |
10: 79,829,414 (GRCm39) |
|
probably benign |
Het |
Dyrk2 |
T |
C |
10: 118,695,624 (GRCm39) |
K545E |
possibly damaging |
Het |
Eif3d |
A |
G |
15: 77,852,754 (GRCm39) |
I9T |
probably damaging |
Het |
Elovl7 |
A |
G |
13: 108,410,883 (GRCm39) |
I153V |
probably benign |
Het |
Etl4 |
T |
C |
2: 20,810,955 (GRCm39) |
S1013P |
possibly damaging |
Het |
Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
Gart |
G |
T |
16: 91,425,070 (GRCm39) |
|
probably null |
Het |
Gm572 |
G |
A |
4: 148,739,354 (GRCm39) |
V61M |
possibly damaging |
Het |
Hspbap1 |
G |
A |
16: 35,622,035 (GRCm39) |
A127T |
probably damaging |
Het |
Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
Kcnrg |
A |
G |
14: 61,849,144 (GRCm39) |
T202A |
probably benign |
Het |
Lhx1 |
T |
C |
11: 84,412,905 (GRCm39) |
E36G |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,441,735 (GRCm39) |
N167S |
probably damaging |
Het |
Parp9 |
A |
T |
16: 35,777,267 (GRCm39) |
M171L |
probably benign |
Het |
Pla2g4e |
G |
A |
2: 120,013,253 (GRCm39) |
R356W |
probably damaging |
Het |
Ppp4c |
C |
T |
7: 126,391,222 (GRCm39) |
|
probably benign |
Het |
Rab3c |
G |
A |
13: 110,397,120 (GRCm39) |
R49C |
probably damaging |
Het |
Rbm25 |
T |
C |
12: 83,691,167 (GRCm39) |
|
probably benign |
Het |
Sema4g |
T |
A |
19: 44,986,091 (GRCm39) |
S311T |
possibly damaging |
Het |
Skida1 |
T |
C |
2: 18,053,090 (GRCm39) |
I21V |
possibly damaging |
Het |
Slc25a32 |
T |
A |
15: 38,963,411 (GRCm39) |
I137F |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,543,929 (GRCm39) |
V4409A |
probably damaging |
Het |
Stx2 |
G |
A |
5: 129,065,852 (GRCm39) |
|
probably benign |
Het |
Timeless |
C |
T |
10: 128,078,234 (GRCm39) |
T248M |
possibly damaging |
Het |
Tlr2 |
T |
A |
3: 83,743,900 (GRCm39) |
N728Y |
probably damaging |
Het |
Zfp592 |
A |
T |
7: 80,687,812 (GRCm39) |
N913Y |
possibly damaging |
Het |
|
Other mutations in Ak5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02178:Ak5
|
APN |
3 |
152,232,422 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02237:Ak5
|
APN |
3 |
152,204,980 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02661:Ak5
|
APN |
3 |
152,169,593 (GRCm39) |
missense |
probably benign |
|
IGL03097:Ak5
|
UTSW |
3 |
152,366,151 (GRCm39) |
critical splice donor site |
probably null |
|
R0645:Ak5
|
UTSW |
3 |
152,359,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R1135:Ak5
|
UTSW |
3 |
152,359,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R1347:Ak5
|
UTSW |
3 |
152,239,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1347:Ak5
|
UTSW |
3 |
152,239,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Ak5
|
UTSW |
3 |
152,239,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1749:Ak5
|
UTSW |
3 |
152,178,557 (GRCm39) |
missense |
probably damaging |
0.99 |
R2059:Ak5
|
UTSW |
3 |
152,366,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R3929:Ak5
|
UTSW |
3 |
152,373,444 (GRCm39) |
missense |
probably damaging |
0.98 |
R4433:Ak5
|
UTSW |
3 |
152,361,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Ak5
|
UTSW |
3 |
152,361,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R5052:Ak5
|
UTSW |
3 |
152,366,204 (GRCm39) |
missense |
probably benign |
0.00 |
R5097:Ak5
|
UTSW |
3 |
152,187,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R5645:Ak5
|
UTSW |
3 |
152,361,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5907:Ak5
|
UTSW |
3 |
152,321,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R6505:Ak5
|
UTSW |
3 |
152,187,306 (GRCm39) |
missense |
probably benign |
0.01 |
R7117:Ak5
|
UTSW |
3 |
152,321,493 (GRCm39) |
critical splice donor site |
probably null |
|
R7397:Ak5
|
UTSW |
3 |
152,183,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Ak5
|
UTSW |
3 |
152,187,209 (GRCm39) |
missense |
probably damaging |
0.99 |
R8440:Ak5
|
UTSW |
3 |
152,209,680 (GRCm39) |
splice site |
probably null |
|
R8802:Ak5
|
UTSW |
3 |
152,321,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R8943:Ak5
|
UTSW |
3 |
152,361,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R9002:Ak5
|
UTSW |
3 |
152,359,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R9130:Ak5
|
UTSW |
3 |
152,178,569 (GRCm39) |
nonsense |
probably null |
|
X0023:Ak5
|
UTSW |
3 |
152,321,664 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Ak5
|
UTSW |
3 |
152,359,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTCAGCCACTGATAAAAGTCCTG -3'
(R):5'- AAAAGGCTGCCACTTTTCTTAGCCAC -3'
Sequencing Primer
(F):5'- AAAAGTCCTGGCTCATCTGG -3'
(R):5'- TAGCCACCATGACTGAACATTTTC -3'
|
Posted On |
2014-02-11 |