Incidental Mutation 'IGL00576:Ak8'
ID |
12453 |
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 # |
IGL00576
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28590176-28703177 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28632729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 316
(L316P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073789
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074156]
|
AlphaFold |
Q32M07 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074156
AA Change: L316P
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000073789 Gene: ENSMUSG00000026807 AA Change: L316P
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: ENSMUST00000137588
|
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 |
Ampd3 |
C |
T |
7: 110,388,028 (GRCm39) |
|
probably benign |
Het |
Arhgap42 |
C |
A |
9: 8,997,621 (GRCm39) |
E835* |
probably null |
Het |
Arid2 |
G |
A |
15: 96,254,639 (GRCm39) |
V162M |
probably damaging |
Het |
Atp2a2 |
C |
T |
5: 122,596,146 (GRCm39) |
|
probably null |
Het |
Bmper |
A |
G |
9: 23,317,899 (GRCm39) |
D506G |
probably damaging |
Het |
Clca4b |
A |
G |
3: 144,631,108 (GRCm39) |
F251L |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,554,934 (GRCm39) |
D2048G |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,341,882 (GRCm39) |
S1227N |
probably damaging |
Het |
Dpp8 |
T |
A |
9: 64,951,111 (GRCm39) |
H182Q |
probably benign |
Het |
Drosha |
A |
G |
15: 12,883,280 (GRCm39) |
K798E |
probably damaging |
Het |
Gbp8 |
A |
G |
5: 105,165,754 (GRCm39) |
|
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,806,092 (GRCm39) |
I1843T |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,763,733 (GRCm39) |
N772S |
possibly damaging |
Het |
Lrrc37 |
A |
G |
11: 103,508,212 (GRCm39) |
|
probably benign |
Het |
Ndst2 |
T |
C |
14: 20,774,552 (GRCm39) |
R835G |
probably benign |
Het |
Psme4 |
T |
C |
11: 30,773,145 (GRCm39) |
V836A |
possibly damaging |
Het |
Ptpn21 |
G |
A |
12: 98,699,860 (GRCm39) |
S18F |
probably damaging |
Het |
Reln |
T |
C |
5: 22,359,948 (GRCm39) |
H192R |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,740,276 (GRCm39) |
F392L |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,794,885 (GRCm39) |
F1024L |
probably damaging |
Het |
Vezf1 |
T |
A |
11: 87,964,470 (GRCm39) |
C19* |
probably null |
Het |
Wdr47 |
A |
G |
3: 108,526,050 (GRCm39) |
N191S |
probably benign |
Het |
Zfp7 |
T |
G |
15: 76,775,101 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
A |
T |
4: 147,910,778 (GRCm39) |
C273S |
probably damaging |
Het |
|
Other mutations in Ak8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |