Incidental Mutation 'R1349:Ak5'
ID |
156592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ak5
|
Ensembl Gene |
ENSMUSG00000039058 |
Gene Name |
adenylate kinase 5 |
Synonyms |
|
MMRRC Submission |
039414-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R1349 (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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
Validation Efficiency |
98% (46/47) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
G |
A |
8: 125,587,992 (GRCm39) |
T36I |
possibly damaging |
Het |
Adcy2 |
T |
A |
13: 68,816,652 (GRCm39) |
N778I |
probably damaging |
Het |
Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
Ankrd28 |
A |
T |
14: 31,467,218 (GRCm39) |
M248K |
probably benign |
Het |
Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
Ccdc157 |
A |
T |
11: 4,099,056 (GRCm39) |
I48N |
probably benign |
Het |
Cd209d |
C |
A |
8: 3,928,515 (GRCm39) |
|
probably benign |
Het |
Cecr2 |
G |
A |
6: 120,734,564 (GRCm39) |
G613E |
probably damaging |
Het |
Clspn |
C |
T |
4: 126,457,770 (GRCm39) |
A98V |
probably benign |
Het |
Cntnap5b |
G |
A |
1: 100,091,813 (GRCm39) |
D499N |
probably benign |
Het |
Cox7a2 |
G |
A |
9: 79,665,819 (GRCm39) |
R21* |
probably null |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dbpht2 |
C |
CNNNNNNNNNNNNNNNNNN |
12: 74,345,836 (GRCm39) |
|
noncoding transcript |
Het |
Dlg1 |
T |
C |
16: 31,631,638 (GRCm39) |
I208T |
probably damaging |
Het |
Dmxl1 |
A |
T |
18: 50,021,920 (GRCm39) |
N1612Y |
probably damaging |
Het |
Epha3 |
A |
G |
16: 63,431,416 (GRCm39) |
I495T |
possibly damaging |
Het |
Frem1 |
T |
C |
4: 82,840,542 (GRCm39) |
|
probably benign |
Het |
Glipr1 |
A |
G |
10: 111,829,437 (GRCm39) |
V108A |
probably benign |
Het |
Gpatch2l |
T |
C |
12: 86,307,483 (GRCm39) |
L287P |
possibly damaging |
Het |
Hp |
T |
G |
8: 110,301,938 (GRCm39) |
K337Q |
probably benign |
Het |
Htr1a |
T |
A |
13: 105,581,874 (GRCm39) |
C371* |
probably null |
Het |
Leo1 |
T |
C |
9: 75,356,751 (GRCm39) |
V377A |
possibly damaging |
Het |
Lsg1 |
A |
G |
16: 30,383,472 (GRCm39) |
F583L |
possibly damaging |
Het |
Map4k4 |
C |
A |
1: 40,060,319 (GRCm39) |
P1103Q |
probably damaging |
Het |
Mybph |
T |
C |
1: 134,121,353 (GRCm39) |
S38P |
probably benign |
Het |
Myo1e |
T |
G |
9: 70,194,351 (GRCm39) |
|
probably benign |
Het |
Nefh |
T |
TNNNNNNNNNNNNNNNNNN |
11: 4,891,010 (GRCm39) |
|
probably benign |
Het |
Oca2 |
T |
A |
7: 56,185,716 (GRCm39) |
M814K |
probably benign |
Het |
Odad3 |
C |
T |
9: 21,904,916 (GRCm39) |
R290H |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,794,240 (GRCm39) |
C1976R |
probably damaging |
Het |
Pogz |
T |
A |
3: 94,768,199 (GRCm39) |
L126M |
probably damaging |
Het |
Rec8 |
T |
C |
14: 55,856,431 (GRCm39) |
Y68H |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,664,546 (GRCm39) |
S1582C |
probably damaging |
Het |
Sh3pxd2a |
A |
T |
19: 47,256,160 (GRCm39) |
W853R |
probably damaging |
Het |
Slc6a7 |
C |
T |
18: 61,133,615 (GRCm39) |
G527D |
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,435 (GRCm39) |
T148A |
possibly damaging |
Het |
Tgm1 |
A |
G |
14: 55,948,658 (GRCm39) |
|
probably benign |
Het |
Tnxb |
T |
C |
17: 34,929,267 (GRCm39) |
V2770A |
possibly damaging |
Het |
Togaram1 |
T |
A |
12: 65,057,919 (GRCm39) |
M1502K |
probably damaging |
Het |
Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
Vmn2r102 |
A |
T |
17: 19,880,887 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
T |
C |
5: 109,234,452 (GRCm39) |
M587V |
probably benign |
Het |
Vmn2r63 |
A |
G |
7: 42,578,642 (GRCm39) |
F84L |
possibly damaging |
Het |
Wdr35 |
A |
T |
12: 9,069,870 (GRCm39) |
|
probably benign |
Het |
Wdr73 |
C |
A |
7: 80,543,000 (GRCm39) |
V176L |
probably 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 |
R1346: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 |
R1347: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 |