Incidental Mutation 'IGL01630:Ak8'
ID |
92896 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ak8
|
Ensembl Gene |
ENSMUSG00000026807 |
Gene Name |
adenylate kinase 8 |
Synonyms |
1190002A17Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
IGL01630
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28590176-28703177 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28602291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 75
(M75K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074156]
|
AlphaFold |
Q32M07 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074156
AA Change: M75K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000073789 Gene: ENSMUSG00000026807 AA Change: M75K
Domain | Start | End | E-Value | Type |
Pfam:AAA_33
|
60 |
186 |
6.2e-8 |
PFAM |
Pfam:AAA_18
|
60 |
191 |
2.3e-9 |
PFAM |
Pfam:ADK
|
62 |
237 |
5.5e-16 |
PFAM |
Pfam:ADK
|
273 |
452 |
1.6e-28 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123794
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit mild hydrocephalus, dilation of the lateral brain ventricles and reduced size of the hippocampus. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
A |
G |
3: 98,069,171 (GRCm39) |
T207A |
possibly damaging |
Het |
Aldh1a7 |
A |
T |
19: 20,673,693 (GRCm39) |
|
probably benign |
Het |
Ankrd34c |
G |
A |
9: 89,611,879 (GRCm39) |
T154I |
probably damaging |
Het |
Arrb2 |
A |
G |
11: 70,327,697 (GRCm39) |
I120M |
probably damaging |
Het |
Atp2a1 |
A |
G |
7: 126,049,437 (GRCm39) |
V535A |
probably benign |
Het |
Cckbr |
G |
T |
7: 105,083,293 (GRCm39) |
W165C |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,564,648 (GRCm39) |
H1677Q |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,540,085 (GRCm39) |
F658S |
probably damaging |
Het |
Gm5581 |
A |
T |
6: 131,145,259 (GRCm39) |
|
noncoding transcript |
Het |
H2-M3 |
A |
G |
17: 37,581,548 (GRCm39) |
E70G |
possibly damaging |
Het |
Hltf |
A |
G |
3: 20,137,068 (GRCm39) |
|
probably benign |
Het |
Ighv1-24 |
C |
A |
12: 114,736,673 (GRCm39) |
V76F |
probably benign |
Het |
Igkv1-110 |
A |
T |
6: 68,248,145 (GRCm39) |
R85W |
probably damaging |
Het |
Kif9 |
A |
C |
9: 110,314,138 (GRCm39) |
R43S |
probably benign |
Het |
Klf11 |
T |
C |
12: 24,710,368 (GRCm39) |
I472T |
probably benign |
Het |
Napsa |
A |
G |
7: 44,236,089 (GRCm39) |
Y376C |
probably damaging |
Het |
Notch2 |
C |
T |
3: 98,053,934 (GRCm39) |
A2199V |
possibly damaging |
Het |
Or10a5 |
A |
T |
7: 106,636,318 (GRCm39) |
|
probably benign |
Het |
Or1e30 |
A |
G |
11: 73,678,687 (GRCm39) |
K308E |
probably benign |
Het |
Pcnt |
T |
A |
10: 76,256,080 (GRCm39) |
D720V |
probably damaging |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Ptk6 |
T |
C |
2: 180,838,859 (GRCm39) |
E298G |
probably damaging |
Het |
Rbm27 |
T |
A |
18: 42,434,905 (GRCm39) |
L323H |
probably damaging |
Het |
Sall3 |
A |
G |
18: 81,014,484 (GRCm39) |
L1076P |
probably benign |
Het |
Sprr2h |
A |
G |
3: 92,294,258 (GRCm39) |
N35S |
unknown |
Het |
Susd1 |
T |
C |
4: 59,365,817 (GRCm39) |
D412G |
possibly damaging |
Het |
Ugdh |
T |
A |
5: 65,574,248 (GRCm39) |
M432L |
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,280,184 (GRCm39) |
V765I |
probably benign |
Het |
Unc13d |
T |
C |
11: 115,964,692 (GRCm39) |
Q258R |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,055,354 (GRCm39) |
F1572Y |
probably benign |
Het |
Xpo1 |
A |
G |
11: 23,235,846 (GRCm39) |
T645A |
probably benign |
Het |
Zer1 |
A |
G |
2: 29,991,843 (GRCm39) |
V659A |
probably damaging |
Het |
|
Other mutations in Ak8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00576:Ak8
|
APN |
2 |
28,632,729 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02350:Ak8
|
APN |
2 |
28,590,225 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02357:Ak8
|
APN |
2 |
28,590,225 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02363:Ak8
|
APN |
2 |
28,702,910 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03061:Ak8
|
APN |
2 |
28,632,767 (GRCm39) |
splice site |
probably benign |
|
IGL03230:Ak8
|
APN |
2 |
28,599,935 (GRCm39) |
splice site |
probably benign |
|
even-steven
|
UTSW |
2 |
28,599,957 (GRCm39) |
nonsense |
probably null |
|
R0418:Ak8
|
UTSW |
2 |
28,623,868 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0631:Ak8
|
UTSW |
2 |
28,625,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Ak8
|
UTSW |
2 |
28,632,758 (GRCm39) |
missense |
probably benign |
|
R1706:Ak8
|
UTSW |
2 |
28,650,007 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1778:Ak8
|
UTSW |
2 |
28,602,333 (GRCm39) |
missense |
probably benign |
0.03 |
R2872:Ak8
|
UTSW |
2 |
28,632,732 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2872:Ak8
|
UTSW |
2 |
28,632,732 (GRCm39) |
missense |
possibly damaging |
0.96 |
R3885:Ak8
|
UTSW |
2 |
28,623,897 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4732:Ak8
|
UTSW |
2 |
28,650,083 (GRCm39) |
missense |
probably damaging |
0.98 |
R4733:Ak8
|
UTSW |
2 |
28,650,083 (GRCm39) |
missense |
probably damaging |
0.98 |
R6339:Ak8
|
UTSW |
2 |
28,624,460 (GRCm39) |
splice site |
probably null |
|
R6351:Ak8
|
UTSW |
2 |
28,625,638 (GRCm39) |
missense |
probably benign |
0.02 |
R6751:Ak8
|
UTSW |
2 |
28,599,957 (GRCm39) |
nonsense |
probably null |
|
R7320:Ak8
|
UTSW |
2 |
28,703,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R7330:Ak8
|
UTSW |
2 |
28,702,947 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7787:Ak8
|
UTSW |
2 |
28,602,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R8005:Ak8
|
UTSW |
2 |
28,602,314 (GRCm39) |
missense |
probably benign |
0.01 |
R8412:Ak8
|
UTSW |
2 |
28,629,643 (GRCm39) |
missense |
probably benign |
|
R8870:Ak8
|
UTSW |
2 |
28,625,602 (GRCm39) |
missense |
probably benign |
0.26 |
R9400:Ak8
|
UTSW |
2 |
28,650,011 (GRCm39) |
missense |
probably benign |
0.29 |
X0018:Ak8
|
UTSW |
2 |
28,624,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |