Incidental Mutation 'R6917:Ak1'
| ID |
539384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak1
|
| Ensembl Gene |
ENSMUSG00000026817 |
| Gene Name |
adenylate kinase 1 |
| Synonyms |
B430205N08Rik, Ak-1 |
| MMRRC Submission |
045038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R6917 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32511770-32525070 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32521164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 95
(Y95C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068271]
[ENSMUST00000113277]
[ENSMUST00000113278]
[ENSMUST00000156578]
[ENSMUST00000195721]
|
| AlphaFold |
Q9R0Y5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068271
AA Change: Y111C
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068479
Gene: ENSMUSG00000026817
AA Change: Y111C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_33
|
26 |
173 |
2.7e-10 |
PFAM |
|
Pfam:AAA_17
|
26 |
194 |
5.4e-8 |
PFAM |
|
Pfam:ADK
|
29 |
185 |
1.3e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113277
AA Change: Y95C
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108902
Gene: ENSMUSG00000026817
AA Change: Y95C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_33
|
10 |
159 |
2.7e-10 |
PFAM |
|
Pfam:AAA_17
|
10 |
171 |
5.4e-11 |
PFAM |
|
Pfam:AAA_18
|
11 |
149 |
7.6e-8 |
PFAM |
|
Pfam:ADK
|
13 |
169 |
7.5e-56 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113278
AA Change: Y95C
PolyPhen 2
Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108903
Gene: ENSMUSG00000026817
AA Change: Y95C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_33
|
10 |
159 |
2.7e-10 |
PFAM |
|
Pfam:AAA_17
|
10 |
171 |
5.4e-11 |
PFAM |
|
Pfam:AAA_18
|
11 |
149 |
7.6e-8 |
PFAM |
|
Pfam:ADK
|
13 |
169 |
7.5e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156578
|
| SMART Domains |
Protein: ENSMUSP00000123534
Gene: ENSMUSG00000026817
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_17
|
10 |
86 |
1.5e-10 |
PFAM |
|
Pfam:ADK
|
13 |
89 |
3.5e-31 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195721
AA Change: Y90C
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142174
Gene: ENSMUSG00000026817
AA Change: Y90C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ADK
|
13 |
96 |
2e-32 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.6%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased adenosine triphosphate (ATP) turnover and reduced efficiency of ATP utilization during muscle contraction. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,437,684 (GRCm39) |
|
probably null |
Het |
| Adcy2 |
A |
T |
13: 68,768,876 (GRCm39) |
M1084K |
possibly damaging |
Het |
| Akap6 |
A |
G |
12: 53,115,951 (GRCm39) |
E1018G |
probably null |
Het |
| Ccdc175 |
A |
G |
12: 72,231,679 (GRCm39) |
S27P |
probably damaging |
Het |
| Ddx31 |
C |
T |
2: 28,782,421 (GRCm39) |
T588I |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,215 (GRCm39) |
W504R |
probably damaging |
Het |
| Echs1 |
T |
G |
7: 139,689,924 (GRCm39) |
M239L |
probably benign |
Het |
| Eno1b |
A |
G |
18: 48,180,656 (GRCm39) |
D278G |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,552,262 (GRCm39) |
T305A |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,221,614 (GRCm39) |
S152C |
probably damaging |
Het |
| Gngt1 |
A |
G |
6: 3,996,680 (GRCm39) |
D42G |
probably benign |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| H2-Aa |
T |
C |
17: 34,502,681 (GRCm39) |
T79A |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,743,013 (GRCm39) |
Y2116N |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,297,419 (GRCm39) |
M311T |
probably benign |
Het |
| L1td1 |
T |
C |
4: 98,622,268 (GRCm39) |
F277L |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,222,563 (GRCm39) |
I249T |
probably damaging |
Het |
| Ldb3 |
G |
A |
14: 34,277,321 (GRCm39) |
A351V |
probably null |
Het |
| Lmo7 |
A |
G |
14: 102,155,446 (GRCm39) |
E996G |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,657,721 (GRCm39) |
D413G |
possibly damaging |
Het |
| Magel2 |
CCCTCCTCCTCCTCCTCCTCCT |
CCCTCCTCCTCCTCCTCCT |
7: 62,027,592 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,744,970 (GRCm39) |
E290G |
possibly damaging |
Het |
| Nos2 |
C |
T |
11: 78,842,053 (GRCm39) |
T735M |
possibly damaging |
Het |
| Or10ak12 |
A |
T |
4: 118,666,326 (GRCm39) |
L245H |
probably damaging |
Het |
| Or11h6 |
A |
G |
14: 50,880,680 (GRCm39) |
K314R |
possibly damaging |
Het |
| Or8g36 |
T |
A |
9: 39,422,495 (GRCm39) |
I174L |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,841,899 (GRCm39) |
L768P |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,475,823 (GRCm39) |
V302D |
possibly damaging |
Het |
| Ptgdr |
A |
T |
14: 45,096,067 (GRCm39) |
V215E |
possibly damaging |
Het |
| Rad51d |
C |
T |
11: 82,770,159 (GRCm39) |
R199Q |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Rtel1 |
ATT |
ATTTT |
2: 180,980,070 (GRCm39) |
|
probably null |
Het |
| Sgip1 |
A |
G |
4: 102,825,388 (GRCm39) |
R772G |
probably damaging |
Het |
| Slc19a2 |
C |
A |
1: 164,088,578 (GRCm39) |
T141N |
probably damaging |
Het |
| Sp4 |
G |
T |
12: 118,262,908 (GRCm39) |
N379K |
probably damaging |
Het |
| Thrap3 |
A |
G |
4: 126,074,285 (GRCm39) |
|
probably benign |
Het |
| Thumpd2 |
T |
G |
17: 81,351,543 (GRCm39) |
I293L |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,949,436 (GRCm39) |
S1649P |
probably damaging |
Het |
| Tssk4 |
A |
G |
14: 55,889,864 (GRCm39) |
S326G |
probably benign |
Het |
| Txndc9 |
A |
C |
1: 38,034,887 (GRCm39) |
S6A |
probably benign |
Het |
| Uhrf1 |
T |
C |
17: 56,616,574 (GRCm39) |
Y131H |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,741,832 (GRCm39) |
D379G |
possibly damaging |
Het |
| Vsig2 |
T |
A |
9: 37,452,745 (GRCm39) |
S105T |
probably benign |
Het |
| Zfp445 |
A |
T |
9: 122,691,359 (GRCm39) |
|
probably null |
Het |
| Zfp654 |
A |
T |
16: 64,606,834 (GRCm39) |
M456K |
probably damaging |
Het |
|
| Other mutations in Ak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Ak1
|
APN |
2 |
32,523,507 (GRCm39) |
unclassified |
probably benign |
|
|
R1472:Ak1
|
UTSW |
2 |
32,520,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Ak1
|
UTSW |
2 |
32,523,478 (GRCm39) |
missense |
probably benign |
|
|
R1876:Ak1
|
UTSW |
2 |
32,520,282 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2004:Ak1
|
UTSW |
2 |
32,519,622 (GRCm39) |
missense |
probably benign |
|
|
R4067:Ak1
|
UTSW |
2 |
32,519,593 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4246:Ak1
|
UTSW |
2 |
32,523,384 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R4873:Ak1
|
UTSW |
2 |
32,521,189 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4875:Ak1
|
UTSW |
2 |
32,521,189 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5076:Ak1
|
UTSW |
2 |
32,523,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Ak1
|
UTSW |
2 |
32,523,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6458:Ak1
|
UTSW |
2 |
32,520,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6818:Ak1
|
UTSW |
2 |
32,520,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6919:Ak1
|
UTSW |
2 |
32,521,134 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8238:Ak1
|
UTSW |
2 |
32,523,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Ak1
|
UTSW |
2 |
32,523,490 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9135:Ak1
|
UTSW |
2 |
32,521,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9193:Ak1
|
UTSW |
2 |
32,520,391 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9395:Ak1
|
UTSW |
2 |
32,523,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ak1
|
UTSW |
2 |
32,520,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCTGAAGCCCAAGCCTG -3'
(R):5'- AAATGTCTGCCTGTGTACATGTG -3'
Sequencing Primer
(F):5'- TTGCTGGGACTTCACACG -3'
(R):5'- TGTACATGTGGGGTGACAAGCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation