Incidental Mutation 'R1112:Ak7'
ID |
96879 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ak7
|
Ensembl Gene |
ENSMUSG00000041323 |
Gene Name |
adenylate kinase 7 |
Synonyms |
4930502N02Rik |
MMRRC Submission |
039185-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1112 (G1)
|
Quality Score |
185 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
105672235-105748706 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105679831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 122
(N122D)
|
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: N122D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043145 Gene: ENSMUSG00000041323 AA Change: N122D
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arb2a |
A |
G |
13: 77,910,005 (GRCm39) |
Y40C |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,841,081 (GRCm39) |
D1161G |
probably benign |
Het |
Bscl2 |
G |
C |
19: 8,817,098 (GRCm39) |
G9R |
possibly damaging |
Het |
Clstn2 |
T |
C |
9: 97,340,281 (GRCm39) |
N697S |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,922,026 (GRCm39) |
V884A |
probably damaging |
Het |
Dusp10 |
A |
T |
1: 183,769,097 (GRCm39) |
Q21L |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Foxn1 |
A |
G |
11: 78,261,856 (GRCm39) |
F171S |
probably benign |
Het |
Fxr2 |
A |
G |
11: 69,543,074 (GRCm39) |
S624G |
probably damaging |
Het |
Gorasp2 |
C |
A |
2: 70,521,158 (GRCm39) |
P376Q |
probably benign |
Het |
Gpr33 |
A |
G |
12: 52,070,155 (GRCm39) |
S295P |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Hap1 |
C |
T |
11: 100,245,143 (GRCm39) |
V23M |
probably damaging |
Het |
Hsd3b5 |
C |
T |
3: 98,537,393 (GRCm39) |
R41Q |
probably benign |
Het |
Kif1c |
T |
G |
11: 70,615,641 (GRCm39) |
|
probably null |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Madd |
A |
G |
2: 90,973,944 (GRCm39) |
C1447R |
probably damaging |
Het |
Myef2 |
A |
C |
2: 124,939,506 (GRCm39) |
M426R |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,245,576 (GRCm39) |
D1072V |
probably damaging |
Het |
Or1e34 |
A |
C |
11: 73,779,060 (GRCm39) |
L46R |
probably damaging |
Het |
Or51a5 |
C |
T |
7: 102,771,611 (GRCm39) |
D123N |
probably damaging |
Het |
Orc4 |
A |
T |
2: 48,823,584 (GRCm39) |
N90K |
probably damaging |
Het |
Padi4 |
C |
T |
4: 140,485,427 (GRCm39) |
S246N |
probably benign |
Het |
Pcdhb22 |
A |
T |
18: 37,652,821 (GRCm39) |
T430S |
possibly damaging |
Het |
Prkd3 |
T |
C |
17: 79,273,837 (GRCm39) |
D473G |
probably damaging |
Het |
Scn4a |
T |
C |
11: 106,211,292 (GRCm39) |
Y1575C |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,853,118 (GRCm39) |
Y170C |
probably damaging |
Het |
Slc12a2 |
A |
T |
18: 58,070,824 (GRCm39) |
I1059L |
probably benign |
Het |
Slc36a4 |
T |
A |
9: 15,634,811 (GRCm39) |
F118I |
possibly damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Srpra |
A |
G |
9: 35,126,255 (GRCm39) |
T483A |
probably benign |
Het |
Sycp2 |
A |
T |
2: 177,994,329 (GRCm39) |
D1198E |
probably benign |
Het |
Ubash3b |
T |
C |
9: 40,939,412 (GRCm39) |
N287D |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,212,627 (GRCm39) |
D905G |
possibly damaging |
Het |
Zfp692 |
T |
C |
11: 58,202,388 (GRCm39) |
L381P |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCACCCCAGGCTGTTTTCAATGAC -3'
(R):5'- GCACACACTTCGAACTTTAGGCAC -3'
Sequencing Primer
(F):5'- TGTGAACTGCACACCAAAGAG -3'
(R):5'- CGAACTTTAGGCACTTCTCAGAC -3'
|
Posted On |
2014-01-05 |