Incidental Mutation 'IGL01100:Ak7'
ID |
52451 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ak7
|
Ensembl Gene |
ENSMUSG00000041323 |
Gene Name |
adenylate kinase 7 |
Synonyms |
4930502N02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01100
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
105672235-105748706 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105679833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 122
(N122K)
|
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: N122K
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000043145 Gene: ENSMUSG00000041323 AA Change: N122K
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 |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,224,673 (GRCm39) |
|
probably null |
Het |
Abca8a |
C |
T |
11: 109,949,249 (GRCm39) |
|
probably null |
Het |
Acad11 |
A |
G |
9: 103,953,607 (GRCm39) |
T32A |
probably damaging |
Het |
Arrb1 |
A |
T |
7: 99,236,420 (GRCm39) |
|
probably null |
Het |
Csde1 |
C |
A |
3: 102,947,841 (GRCm39) |
R132S |
possibly damaging |
Het |
Emilin1 |
A |
G |
5: 31,075,748 (GRCm39) |
H663R |
probably benign |
Het |
Etaa1 |
A |
G |
11: 17,902,576 (GRCm39) |
|
probably null |
Het |
Fat3 |
A |
T |
9: 16,286,524 (GRCm39) |
F1000I |
probably damaging |
Het |
Foxj2 |
T |
C |
6: 122,805,350 (GRCm39) |
L74P |
probably damaging |
Het |
Gas6 |
C |
T |
8: 13,525,118 (GRCm39) |
V289M |
probably benign |
Het |
Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
Ip6k2 |
G |
T |
9: 108,682,943 (GRCm39) |
S305I |
probably damaging |
Het |
Kcnk2 |
A |
G |
1: 189,072,133 (GRCm39) |
V65A |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,744,809 (GRCm39) |
C1635Y |
probably benign |
Het |
Klhdc4 |
G |
A |
8: 122,548,582 (GRCm39) |
Q44* |
probably null |
Het |
Madd |
C |
A |
2: 90,988,385 (GRCm39) |
R1216L |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,401,984 (GRCm39) |
C3076S |
probably damaging |
Het |
Or1l4 |
A |
T |
2: 37,091,652 (GRCm39) |
H133L |
possibly damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,202 (GRCm39) |
I246F |
probably benign |
Het |
Polq |
C |
A |
16: 36,881,474 (GRCm39) |
P934T |
probably benign |
Het |
Prkaa1 |
A |
T |
15: 5,203,799 (GRCm39) |
K227M |
probably damaging |
Het |
Psap |
G |
A |
10: 60,135,708 (GRCm39) |
G388S |
probably benign |
Het |
Repin1 |
A |
G |
6: 48,573,839 (GRCm39) |
E200G |
probably damaging |
Het |
Samd9l |
C |
A |
6: 3,375,863 (GRCm39) |
S466I |
possibly damaging |
Het |
Slc5a3 |
A |
G |
16: 91,876,110 (GRCm39) |
|
probably benign |
Het |
Smg9 |
G |
A |
7: 24,116,376 (GRCm39) |
V314M |
probably damaging |
Het |
Tktl1 |
G |
A |
X: 73,244,232 (GRCm39) |
R352H |
probably benign |
Het |
Ube2z |
A |
G |
11: 95,953,849 (GRCm39) |
V123A |
probably damaging |
Het |
Vmn1r176 |
A |
T |
7: 23,535,049 (GRCm39) |
F35I |
probably benign |
Het |
Zdhhc18 |
A |
T |
4: 133,340,269 (GRCm39) |
Y293N |
probably damaging |
Het |
|
Other mutations in Ak7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-06-21 |