Incidental Mutation 'R5052:Ak5'
| ID |
394684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak5
|
| Ensembl Gene |
ENSMUSG00000039058 |
| Gene Name |
adenylate kinase 5 |
| Synonyms |
|
| MMRRC Submission |
042642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R5052 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
152168461-152373992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152366204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 66
(T66A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045262]
|
| AlphaFold |
Q920P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045262
AA Change: T66A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: T66A
| 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 |
0.0651 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 94.8%
- 20x: 86.2%
|
| Validation Efficiency |
100% (58/58) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,563,162 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,676,940 (GRCm39) |
T1964A |
probably damaging |
Het |
| Agbl5 |
C |
T |
5: 31,048,558 (GRCm39) |
T210I |
possibly damaging |
Het |
| Aktip |
G |
A |
8: 91,856,279 (GRCm39) |
T66I |
possibly damaging |
Het |
| Aldh1l2 |
T |
C |
10: 83,344,556 (GRCm39) |
Y330C |
possibly damaging |
Het |
| Btbd19 |
T |
G |
4: 116,979,454 (GRCm39) |
K122Q |
possibly damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,403 (GRCm39) |
T150A |
probably benign |
Het |
| Celsr2 |
A |
G |
3: 108,319,674 (GRCm39) |
I1046T |
probably damaging |
Het |
| Cep170 |
C |
T |
1: 176,621,117 (GRCm39) |
R20Q |
probably damaging |
Het |
| Cercam |
T |
A |
2: 29,765,639 (GRCm39) |
N260K |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,071,782 (GRCm39) |
H284L |
probably damaging |
Het |
| Chmp5 |
A |
G |
4: 40,948,608 (GRCm39) |
M1V |
probably null |
Het |
| Elp3 |
A |
T |
14: 65,815,389 (GRCm39) |
I220N |
probably damaging |
Het |
| Esyt2 |
A |
G |
12: 116,331,416 (GRCm39) |
T765A |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,256,019 (GRCm39) |
|
probably benign |
Het |
| Gm5866 |
T |
G |
5: 52,740,234 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
C |
A |
16: 87,746,986 (GRCm39) |
G417V |
probably benign |
Het |
| Gtpbp1 |
T |
G |
15: 79,600,170 (GRCm39) |
I399R |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,284 (GRCm39) |
C14R |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,316,349 (GRCm39) |
|
probably null |
Het |
| Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
| Map3k15 |
T |
C |
X: 158,771,742 (GRCm39) |
V105A |
possibly damaging |
Het |
| Mitf |
A |
G |
6: 97,987,406 (GRCm39) |
T320A |
possibly damaging |
Het |
| Ncapd3 |
T |
G |
9: 26,963,015 (GRCm39) |
L440R |
probably damaging |
Het |
| Nrxn2 |
C |
G |
19: 6,505,234 (GRCm39) |
A359G |
probably damaging |
Het |
| P2rx3 |
T |
G |
2: 84,829,368 (GRCm39) |
I371L |
probably benign |
Het |
| Pde1b |
C |
A |
15: 103,436,075 (GRCm39) |
Q493K |
possibly damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,709,846 (GRCm39) |
F1503S |
probably damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,045,625 (GRCm39) |
W1283G |
probably damaging |
Het |
| Rasd2 |
T |
A |
8: 75,948,564 (GRCm39) |
D163E |
possibly damaging |
Het |
| Rgs11 |
A |
G |
17: 26,426,947 (GRCm39) |
|
probably benign |
Het |
| Scap |
T |
C |
9: 110,182,220 (GRCm39) |
I37T |
possibly damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Slc25a54 |
A |
G |
3: 109,010,016 (GRCm39) |
I172V |
probably benign |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,336,744 (GRCm39) |
D171E |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,785,817 (GRCm39) |
E629G |
probably benign |
Het |
| Trav7-1 |
T |
G |
14: 52,892,765 (GRCm39) |
L106R |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Utf1 |
T |
C |
7: 139,524,814 (GRCm39) |
|
probably benign |
Het |
| Zdhhc13 |
A |
G |
7: 48,474,479 (GRCm39) |
N577S |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,767 (GRCm39) |
N1183D |
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 |
|
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'- TAGTAGCAGGAAAAGATAAATCCTCCC -3'
(R):5'- AAAGATCCTGGGTGCTGGTG -3'
Sequencing Primer
(F):5'- CCCAAACACTTATAAACCTAGTCATG -3'
(R):5'- GGCAAGCCAGCATGACATTTTTC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation