Incidental Mutation 'R1626:Ak7'
ID |
172524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ak7
|
Ensembl Gene |
ENSMUSG00000041323 |
Gene Name |
adenylate kinase 7 |
Synonyms |
4930502N02Rik |
MMRRC Submission |
039663-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1626 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
105672235-105748706 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105734807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 591
(D591G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043145
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040876]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040876
AA Change: D591G
PolyPhen 2
Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000043145 Gene: ENSMUSG00000041323 AA Change: D591G
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.1%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
T |
C |
10: 21,497,571 (GRCm39) |
Y71H |
possibly damaging |
Het |
Acsl6 |
C |
A |
11: 54,242,872 (GRCm39) |
P628T |
probably damaging |
Het |
Anxa5 |
T |
C |
3: 36,516,130 (GRCm39) |
D66G |
probably damaging |
Het |
Cacna1b |
G |
A |
2: 24,496,721 (GRCm39) |
T2283I |
probably damaging |
Het |
Cand1 |
A |
T |
10: 119,045,919 (GRCm39) |
D995E |
possibly damaging |
Het |
Cblc |
G |
T |
7: 19,530,427 (GRCm39) |
A94E |
probably damaging |
Het |
Cd48 |
G |
A |
1: 171,509,687 (GRCm39) |
C9Y |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,721,224 (GRCm39) |
K1004R |
probably benign |
Het |
Cilk1 |
A |
G |
9: 78,057,919 (GRCm39) |
Y156C |
probably damaging |
Het |
Cldn1 |
T |
C |
16: 26,190,202 (GRCm39) |
T59A |
probably damaging |
Het |
Col11a1 |
G |
A |
3: 113,925,218 (GRCm39) |
G17D |
probably damaging |
Het |
Cpeb1 |
A |
G |
7: 81,085,995 (GRCm39) |
V49A |
probably damaging |
Het |
Cyp4b1 |
G |
T |
4: 115,498,855 (GRCm39) |
P109Q |
probably damaging |
Het |
Dhrs7b |
T |
A |
11: 60,735,082 (GRCm39) |
F23I |
possibly damaging |
Het |
Dnah9 |
C |
A |
11: 65,976,093 (GRCm39) |
A1319S |
probably benign |
Het |
Egf |
A |
T |
3: 129,479,864 (GRCm39) |
V553D |
possibly damaging |
Het |
Fbn1 |
T |
C |
2: 125,183,199 (GRCm39) |
D1760G |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,286,745 (GRCm39) |
F178L |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 52,891,117 (GRCm39) |
S85* |
probably null |
Het |
Gfm1 |
A |
G |
3: 67,345,977 (GRCm39) |
Y225C |
probably damaging |
Het |
Gm10797 |
A |
T |
10: 67,408,453 (GRCm39) |
|
noncoding transcript |
Het |
H3c8 |
G |
A |
13: 23,719,721 (GRCm39) |
V36M |
probably damaging |
Het |
Heatr4 |
T |
A |
12: 84,020,495 (GRCm39) |
I499L |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,896,705 (GRCm39) |
M1287K |
probably benign |
Het |
Inpp5b |
C |
A |
4: 124,677,696 (GRCm39) |
D385E |
probably damaging |
Het |
Lrrc9 |
A |
G |
12: 72,542,435 (GRCm39) |
|
probably null |
Het |
Ltb4r1 |
A |
G |
14: 56,004,699 (GRCm39) |
M1V |
probably null |
Het |
Macf1 |
T |
C |
4: 123,365,327 (GRCm39) |
I3145V |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,017,450 (GRCm39) |
N277S |
probably damaging |
Het |
Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
Mgat4e |
A |
G |
1: 134,469,016 (GRCm39) |
Y343H |
probably benign |
Het |
Noxred1 |
T |
C |
12: 87,268,029 (GRCm39) |
*367W |
probably null |
Het |
Nup58 |
A |
T |
14: 60,480,076 (GRCm39) |
L190* |
probably null |
Het |
Olfml2a |
G |
T |
2: 38,841,275 (GRCm39) |
K270N |
probably damaging |
Het |
Or5c1 |
A |
G |
2: 37,222,774 (GRCm39) |
|
probably null |
Het |
Or7g32 |
A |
G |
9: 19,389,495 (GRCm39) |
L14P |
probably damaging |
Het |
Phgdh |
G |
T |
3: 98,223,725 (GRCm39) |
Q359K |
probably benign |
Het |
Plpp5 |
G |
T |
8: 26,212,604 (GRCm39) |
C200F |
possibly damaging |
Het |
Pole |
A |
C |
5: 110,441,235 (GRCm39) |
I230L |
probably benign |
Het |
Prtg |
A |
T |
9: 72,752,193 (GRCm39) |
D193V |
probably damaging |
Het |
Ptgs2 |
G |
A |
1: 149,979,619 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
T |
6: 23,001,573 (GRCm39) |
Q1221L |
probably benign |
Het |
Rufy2 |
T |
C |
10: 62,831,151 (GRCm39) |
I204T |
probably benign |
Het |
Rybp |
A |
G |
6: 100,209,919 (GRCm39) |
S115P |
possibly damaging |
Het |
Samd13 |
A |
G |
3: 146,368,481 (GRCm39) |
V37A |
probably benign |
Het |
Secisbp2l |
T |
G |
2: 125,617,606 (GRCm39) |
K24Q |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,222,891 (GRCm39) |
Y198C |
probably damaging |
Het |
Svil |
T |
G |
18: 5,117,099 (GRCm39) |
|
probably null |
Het |
Ttc24 |
G |
T |
3: 87,977,366 (GRCm39) |
R127S |
probably benign |
Het |
Ttn |
C |
T |
2: 76,588,888 (GRCm39) |
V21394M |
probably damaging |
Het |
Tubal3 |
G |
T |
13: 3,982,841 (GRCm39) |
C207F |
probably damaging |
Het |
Vmn2r16 |
A |
T |
5: 109,511,443 (GRCm39) |
D550V |
probably damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,041,921 (GRCm39) |
I265F |
possibly damaging |
Het |
Zfp507 |
T |
C |
7: 35,494,858 (GRCm39) |
K62E |
probably 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 |
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 |
R6066:Ak7
|
UTSW |
12 |
105,699,750 (GRCm39) |
missense |
possibly damaging |
0.87 |
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'- TTGTGAGAGCCAAGGCGGAATC -3'
(R):5'- TGTTTCCATGCTGGCCTAAGTGAC -3'
Sequencing Primer
(F):5'- TCACATTCCCGCTGTAGAGG -3'
(R):5'- CTAAGTGACAGGCCCAGC -3'
|
Posted On |
2014-04-24 |