Incidental Mutation 'IGL00592:Ak6'
| ID |
4247 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ak6
|
| Ensembl Gene |
ENSMUSG00000078941 |
| Gene Name |
adenylate kinase 6 |
| Synonyms |
2810046E22Rik, 4921516M08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL00592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100787851-100802923 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100800599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 74
(V74A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022135]
|
| AlphaFold |
Q8VCP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022135
AA Change: V74A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000022135
Gene: ENSMUSG00000078941
AA Change: V74A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_17
|
5 |
113 |
1.1e-13 |
PFAM |
|
Pfam:AAA
|
6 |
45 |
3.6e-6 |
PFAM |
|
Pfam:AAA_18
|
6 |
126 |
2e-30 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
A |
G |
3: 138,126,397 (GRCm39) |
I91V |
probably damaging |
Het |
| Antxr1 |
C |
A |
6: 87,265,784 (GRCm39) |
V110F |
probably damaging |
Het |
| Anxa1 |
T |
C |
19: 20,355,033 (GRCm39) |
D247G |
probably benign |
Het |
| Dgkg |
T |
C |
16: 22,298,112 (GRCm39) |
|
probably benign |
Het |
| Eva1b |
T |
C |
4: 126,043,443 (GRCm39) |
M161T |
probably benign |
Het |
| Fbxw22 |
C |
A |
9: 109,213,108 (GRCm39) |
V280F |
possibly damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,378 (GRCm39) |
S288P |
probably damaging |
Het |
| Masp2 |
C |
T |
4: 148,687,186 (GRCm39) |
P23S |
probably benign |
Het |
| Ncam1 |
T |
A |
9: 49,434,865 (GRCm39) |
D600V |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,626,139 (GRCm39) |
N1115S |
probably damaging |
Het |
| Pdia2 |
A |
G |
17: 26,417,090 (GRCm39) |
V109A |
probably damaging |
Het |
| Pla1a |
G |
T |
16: 38,235,212 (GRCm39) |
H161N |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,223,424 (GRCm39) |
D39E |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,883 (GRCm39) |
D319G |
probably damaging |
Het |
| Sgms2 |
A |
G |
3: 131,135,482 (GRCm39) |
S131P |
possibly damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,827,305 (GRCm39) |
Q319L |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,722,566 (GRCm39) |
I636T |
probably benign |
Het |
| Tas2r131 |
T |
G |
6: 132,934,159 (GRCm39) |
T217P |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,219,723 (GRCm39) |
M198V |
possibly damaging |
Het |
| Ube2b |
A |
C |
11: 51,877,546 (GRCm39) |
V141G |
probably damaging |
Het |
| Ube2l6 |
T |
A |
2: 84,639,373 (GRCm39) |
V112E |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,934 (GRCm39) |
I272T |
probably benign |
Het |
| Xylb |
C |
T |
9: 119,219,549 (GRCm39) |
Q513* |
probably null |
Het |
| Zbtb4 |
T |
A |
11: 69,667,557 (GRCm39) |
C287* |
probably null |
Het |
|
| Other mutations in Ak6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4151001:Ak6
|
UTSW |
13 |
100,791,603 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0189:Ak6
|
UTSW |
13 |
100,791,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Ak6
|
UTSW |
13 |
100,792,177 (GRCm39) |
missense |
probably benign |
|
|
R1736:Ak6
|
UTSW |
13 |
100,791,689 (GRCm39) |
splice site |
probably null |
|
|
R4351:Ak6
|
UTSW |
13 |
100,792,111 (GRCm39) |
nonsense |
probably null |
|
|
R4625:Ak6
|
UTSW |
13 |
100,792,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5690:Ak6
|
UTSW |
13 |
100,792,129 (GRCm39) |
splice site |
probably null |
|
|
R5711:Ak6
|
UTSW |
13 |
100,790,722 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5870:Ak6
|
UTSW |
13 |
100,791,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Ak6
|
UTSW |
13 |
100,802,459 (GRCm39) |
nonsense |
probably null |
|
|
R6386:Ak6
|
UTSW |
13 |
100,792,311 (GRCm39) |
unclassified |
probably benign |
|
|
R7524:Ak6
|
UTSW |
13 |
100,800,415 (GRCm39) |
missense |
probably benign |
|
|
R8690:Ak6
|
UTSW |
13 |
100,791,857 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9408:Ak6
|
UTSW |
13 |
100,792,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-04-20 |
Incidental Mutation