Incidental Mutation 'R5097:Ak5'
| ID |
388069 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak5
|
| Ensembl Gene |
ENSMUSG00000039058 |
| Gene Name |
adenylate kinase 5 |
| Synonyms |
|
| MMRRC Submission |
042686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R5097 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
152168461-152373992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152187270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 406
(S406P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045262]
|
| AlphaFold |
Q920P5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045262
AA Change: S406P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: S406P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198552
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000200062
AA Change: S64P
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts3 |
C |
A |
5: 89,840,909 (GRCm39) |
V805F |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,865,165 (GRCm39) |
T226M |
probably damaging |
Het |
| Akt3 |
C |
G |
1: 177,076,254 (GRCm39) |
V12L |
probably benign |
Het |
| Arhgef40 |
A |
C |
14: 52,227,146 (GRCm39) |
S397R |
probably damaging |
Het |
| Atp5f1c |
A |
G |
2: 10,068,323 (GRCm39) |
V144A |
probably benign |
Het |
| Ccser1 |
A |
G |
6: 61,289,144 (GRCm39) |
S436G |
probably benign |
Het |
| Clgn |
G |
T |
8: 84,137,152 (GRCm39) |
V290F |
possibly damaging |
Het |
| Dis3l |
T |
A |
9: 64,226,498 (GRCm39) |
D261V |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,981,435 (GRCm39) |
Y2577F |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,243,317 (GRCm39) |
E371G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,201,530 (GRCm39) |
S515P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,822,329 (GRCm39) |
I6021V |
probably benign |
Het |
| Ftdc1 |
A |
C |
16: 58,434,227 (GRCm39) |
N163K |
probably benign |
Het |
| Gstm5 |
A |
T |
3: 107,803,258 (GRCm39) |
|
probably benign |
Het |
| H2-Oa |
G |
A |
17: 34,312,809 (GRCm39) |
D29N |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Ireb2 |
A |
G |
9: 54,802,668 (GRCm39) |
I434M |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Micall1 |
A |
G |
15: 79,014,078 (GRCm39) |
T658A |
probably benign |
Het |
| Mitf |
C |
T |
6: 97,973,423 (GRCm39) |
A252V |
possibly damaging |
Het |
| Mpzl1 |
A |
G |
1: 165,433,285 (GRCm39) |
I122T |
probably damaging |
Het |
| Mtus2 |
G |
A |
5: 148,232,392 (GRCm39) |
V146I |
probably damaging |
Het |
| Myh11 |
C |
T |
16: 14,023,770 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
G |
10: 116,653,609 (GRCm39) |
I486T |
probably damaging |
Het |
| N4bp2 |
T |
C |
5: 65,974,561 (GRCm39) |
V1477A |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,231,358 (GRCm39) |
S100T |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,857,851 (GRCm38) |
N433K |
probably benign |
Het |
| Noc4l |
C |
T |
5: 110,799,212 (GRCm39) |
S190N |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,420,731 (GRCm39) |
E122G |
probably damaging |
Het |
| Or13a19 |
A |
G |
7: 139,903,008 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or1e16 |
G |
C |
11: 73,286,119 (GRCm39) |
S243C |
probably damaging |
Het |
| Or6n2 |
C |
T |
1: 173,897,095 (GRCm39) |
T77I |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,896,594 (GRCm39) |
I324V |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Peg3 |
C |
T |
7: 6,713,026 (GRCm39) |
R732H |
probably damaging |
Het |
| Rfc4 |
A |
G |
16: 22,933,046 (GRCm39) |
I297T |
possibly damaging |
Het |
| Rpl3l |
T |
A |
17: 24,952,435 (GRCm39) |
D218E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,224,209 (GRCm39) |
V400I |
probably benign |
Het |
| Syt11 |
C |
T |
3: 88,655,231 (GRCm39) |
V51I |
probably benign |
Het |
| Tas2r115 |
A |
C |
6: 132,714,216 (GRCm39) |
L245R |
probably damaging |
Het |
| Tmem115 |
G |
A |
9: 107,412,059 (GRCm39) |
V128I |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,997,260 (GRCm39) |
V499A |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,638,256 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,687,998 (GRCm39) |
D479G |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,839,878 (GRCm39) |
T91A |
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 |
|
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 |
|
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 |
|
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'- TGTCTCCATGATCCAGCCTG -3'
(R):5'- TGAGTCTCTACAGCGCACATG -3'
Sequencing Primer
(F):5'- ATCCAGCCTGCCACCGTAG -3'
(R):5'- GTCTCTACAGCGCACATGATCAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation