Incidental Mutation 'IGL02363:Ak8'
| ID |
290625 |
| 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 # |
IGL02363
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
28590176-28703177 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28702910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 425
(S425P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074156]
|
| AlphaFold |
Q32M07 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074156
AA Change: S425P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000073789
Gene: ENSMUSG00000026807
AA Change: S425P
| 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 |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Comt |
T |
C |
16: 18,229,881 (GRCm39) |
D153G |
probably benign |
Het |
| Cplane1 |
A |
T |
15: 8,247,921 (GRCm39) |
H1490L |
possibly damaging |
Het |
| Exoc6 |
T |
C |
19: 37,597,402 (GRCm39) |
I601T |
probably damaging |
Het |
| F11 |
A |
T |
8: 45,694,568 (GRCm39) |
C598S |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 55,002,872 (GRCm39) |
D524Y |
probably damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,764,940 (GRCm39) |
E157G |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,890,847 (GRCm39) |
H1323R |
probably benign |
Het |
| Hsd3b5 |
T |
C |
3: 98,537,421 (GRCm39) |
I32V |
probably benign |
Het |
| Il6ra |
A |
G |
3: 89,778,560 (GRCm39) |
S430P |
probably benign |
Het |
| Lama2 |
G |
T |
10: 27,242,062 (GRCm39) |
T298K |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,341,116 (GRCm39) |
|
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,103,085 (GRCm39) |
D405G |
probably benign |
Het |
| Opn5 |
T |
C |
17: 42,868,382 (GRCm39) |
D371G |
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,152,918 (GRCm39) |
A408S |
probably damaging |
Het |
| Pim3 |
T |
C |
15: 88,747,116 (GRCm39) |
V54A |
probably benign |
Het |
| Prdm5 |
T |
C |
6: 65,771,303 (GRCm39) |
F38S |
probably damaging |
Het |
| Ptgs2 |
C |
T |
1: 149,981,460 (GRCm39) |
|
probably null |
Het |
| Rnf185 |
A |
G |
11: 3,368,015 (GRCm39) |
I221T |
possibly damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,870 (GRCm39) |
F318L |
possibly damaging |
Het |
| Spata1 |
T |
C |
3: 146,193,119 (GRCm39) |
Y124C |
possibly damaging |
Het |
| Tmie |
G |
T |
9: 110,699,821 (GRCm39) |
|
probably benign |
Het |
| Tph2 |
T |
C |
10: 114,915,886 (GRCm39) |
K429R |
probably benign |
Het |
| Usp32 |
A |
G |
11: 84,935,613 (GRCm39) |
Y388H |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,578 (GRCm39) |
Q647L |
probably benign |
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 |
|
IGL01630:Ak8
|
APN |
2 |
28,602,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation