Incidental Mutation 'R6066:Ak7'
ID |
484051 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ak7
|
Ensembl Gene |
ENSMUSG00000041323 |
Gene Name |
adenylate kinase 7 |
Synonyms |
4930502N02Rik |
MMRRC Submission |
044230-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6066 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
105672235-105748706 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 105699750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 223
(G223V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040876]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040876
AA Change: G223V
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043145 Gene: ENSMUSG00000041323 AA Change: G223V
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
Pfam:ADK
|
431 |
675 |
1.4e-9 |
PFAM |
Pfam:Dpy-30
|
679 |
720 |
3.2e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221981
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mice exhibit hydrocephalus, rhinitis, sperm defects and most die before 8 weeks of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgrb1 |
T |
C |
15: 74,412,308 (GRCm39) |
F429S |
probably damaging |
Het |
Ahi1 |
A |
T |
10: 20,835,825 (GRCm39) |
M53L |
possibly damaging |
Het |
Ahr |
A |
T |
12: 35,554,920 (GRCm39) |
F400I |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,726,698 (GRCm39) |
I128V |
possibly damaging |
Het |
Ampd3 |
A |
T |
7: 110,392,974 (GRCm39) |
E247D |
probably benign |
Het |
Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
Arhgef10l |
A |
G |
4: 140,304,391 (GRCm39) |
F243L |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,269,537 (GRCm39) |
V661E |
probably damaging |
Het |
Cox8c |
A |
G |
12: 102,866,534 (GRCm39) |
T53A |
probably benign |
Het |
Creld2 |
C |
A |
15: 88,707,969 (GRCm39) |
T236K |
possibly damaging |
Het |
Cul3 |
A |
T |
1: 80,261,476 (GRCm39) |
C250S |
probably benign |
Het |
Dhx37 |
A |
C |
5: 125,501,730 (GRCm39) |
F510V |
probably benign |
Het |
Fblim1 |
T |
C |
4: 141,305,220 (GRCm39) |
D350G |
probably damaging |
Het |
Lipm |
A |
G |
19: 34,090,374 (GRCm39) |
Y185C |
probably damaging |
Het |
Mfsd4b4 |
A |
G |
10: 39,768,049 (GRCm39) |
F348S |
probably benign |
Het |
Misp |
A |
G |
10: 79,662,146 (GRCm39) |
R188G |
possibly damaging |
Het |
Nbeal1 |
T |
G |
1: 60,287,564 (GRCm39) |
I936S |
probably benign |
Het |
Ngly1 |
G |
A |
14: 16,294,634 (GRCm38) |
M521I |
probably benign |
Het |
Nlrp9a |
A |
T |
7: 26,257,510 (GRCm39) |
Y376F |
probably benign |
Het |
Oas3 |
T |
C |
5: 120,910,989 (GRCm39) |
K197R |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,511,276 (GRCm39) |
Y353H |
probably damaging |
Het |
Pik3r1 |
T |
C |
13: 101,822,828 (GRCm39) |
N625D |
possibly damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,391,525 (GRCm39) |
S1530R |
probably damaging |
Het |
Rsph6a |
C |
T |
7: 18,799,740 (GRCm39) |
P457L |
probably damaging |
Het |
Secisbp2 |
T |
C |
13: 51,831,258 (GRCm39) |
S565P |
probably benign |
Het |
Slc28a3 |
T |
C |
13: 58,726,301 (GRCm39) |
M163V |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,229,171 (GRCm39) |
T2890A |
unknown |
Het |
Tatdn3 |
A |
T |
1: 190,778,465 (GRCm39) |
V242E |
probably benign |
Het |
Vmn1r22 |
T |
G |
6: 57,877,864 (GRCm39) |
M38L |
probably benign |
Het |
Vmn2r104 |
A |
G |
17: 20,258,573 (GRCm39) |
F524L |
possibly damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,477,695 (GRCm39) |
S239P |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,919,778 (GRCm39) |
D679G |
probably null |
Het |
Zbtb42 |
C |
A |
12: 112,646,041 (GRCm39) |
T72K |
probably damaging |
Het |
Zfp493 |
G |
A |
13: 67,935,069 (GRCm39) |
A341T |
possibly damaging |
Het |
Zfp811 |
A |
G |
17: 33,017,801 (GRCm39) |
C80R |
possibly damaging |
Het |
|
Other mutations in Ak7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01100:Ak7
|
APN |
12 |
105,679,833 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01859:Ak7
|
APN |
12 |
105,711,556 (GRCm39) |
missense |
probably null |
|
IGL01939:Ak7
|
APN |
12 |
105,701,183 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03233:Ak7
|
APN |
12 |
105,727,739 (GRCm39) |
missense |
probably damaging |
1.00 |
drizzle
|
UTSW |
12 |
105,708,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R0453:Ak7
|
UTSW |
12 |
105,682,307 (GRCm39) |
missense |
probably damaging |
0.98 |
R0538:Ak7
|
UTSW |
12 |
105,732,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R0619:Ak7
|
UTSW |
12 |
105,699,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0724:Ak7
|
UTSW |
12 |
105,676,513 (GRCm39) |
missense |
probably benign |
0.00 |
R1028:Ak7
|
UTSW |
12 |
105,676,448 (GRCm39) |
small deletion |
probably benign |
|
R1112:Ak7
|
UTSW |
12 |
105,679,831 (GRCm39) |
missense |
probably benign |
|
R1449:Ak7
|
UTSW |
12 |
105,708,520 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1523:Ak7
|
UTSW |
12 |
105,732,867 (GRCm39) |
missense |
probably benign |
0.18 |
R1626:Ak7
|
UTSW |
12 |
105,734,807 (GRCm39) |
missense |
probably benign |
0.23 |
R1737:Ak7
|
UTSW |
12 |
105,708,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Ak7
|
UTSW |
12 |
105,692,482 (GRCm39) |
nonsense |
probably null |
|
R1971:Ak7
|
UTSW |
12 |
105,692,504 (GRCm39) |
missense |
probably damaging |
0.98 |
R2020:Ak7
|
UTSW |
12 |
105,711,591 (GRCm39) |
splice site |
probably null |
|
R2267:Ak7
|
UTSW |
12 |
105,713,473 (GRCm39) |
missense |
probably benign |
|
R3918:Ak7
|
UTSW |
12 |
105,676,515 (GRCm39) |
missense |
probably benign |
0.03 |
R4600:Ak7
|
UTSW |
12 |
105,679,834 (GRCm39) |
missense |
probably benign |
0.00 |
R4601:Ak7
|
UTSW |
12 |
105,679,834 (GRCm39) |
missense |
probably benign |
0.00 |
R4602:Ak7
|
UTSW |
12 |
105,679,834 (GRCm39) |
missense |
probably benign |
0.00 |
R4610:Ak7
|
UTSW |
12 |
105,679,834 (GRCm39) |
missense |
probably benign |
0.00 |
R4611:Ak7
|
UTSW |
12 |
105,679,834 (GRCm39) |
missense |
probably benign |
0.00 |
R4612:Ak7
|
UTSW |
12 |
105,727,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Ak7
|
UTSW |
12 |
105,676,404 (GRCm39) |
missense |
probably benign |
0.05 |
R5523:Ak7
|
UTSW |
12 |
105,707,341 (GRCm39) |
nonsense |
probably null |
|
R5911:Ak7
|
UTSW |
12 |
105,692,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R6270:Ak7
|
UTSW |
12 |
105,734,960 (GRCm39) |
missense |
probably benign |
|
R6767:Ak7
|
UTSW |
12 |
105,732,866 (GRCm39) |
missense |
probably damaging |
0.98 |
R6960:Ak7
|
UTSW |
12 |
105,676,503 (GRCm39) |
missense |
probably benign |
|
R7016:Ak7
|
UTSW |
12 |
105,747,938 (GRCm39) |
nonsense |
probably null |
|
R7185:Ak7
|
UTSW |
12 |
105,708,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Ak7
|
UTSW |
12 |
105,711,532 (GRCm39) |
missense |
probably benign |
0.00 |
R7204:Ak7
|
UTSW |
12 |
105,708,502 (GRCm39) |
missense |
probably benign |
|
R7724:Ak7
|
UTSW |
12 |
105,682,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R7779:Ak7
|
UTSW |
12 |
105,708,609 (GRCm39) |
missense |
probably benign |
0.42 |
R7878:Ak7
|
UTSW |
12 |
105,733,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R8375:Ak7
|
UTSW |
12 |
105,708,600 (GRCm39) |
missense |
probably damaging |
0.99 |
R8752:Ak7
|
UTSW |
12 |
105,713,476 (GRCm39) |
small deletion |
probably benign |
|
R8832:Ak7
|
UTSW |
12 |
105,708,598 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8980:Ak7
|
UTSW |
12 |
105,747,158 (GRCm39) |
missense |
probably benign |
0.00 |
R9552:Ak7
|
UTSW |
12 |
105,676,448 (GRCm39) |
small deletion |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAGAGTCTGTAACGGTGTC -3'
(R):5'- ACTCGTGTATTGGAGCTGAG -3'
Sequencing Primer
(F):5'- CGGTGTCCGTTTAACTTACTAAG -3'
(R):5'- TGTGCAGGCCCCAGCATAC -3'
|
Posted On |
2017-07-14 |