Incidental Mutation 'R1028:Ak7'
| ID |
95062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak7
|
| Ensembl Gene |
ENSMUSG00000041323 |
| Gene Name |
adenylate kinase 7 |
| Synonyms |
4930502N02Rik |
| MMRRC Submission |
039130-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1028 (G1)
|
| Quality Score |
127 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105672235-105748706 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
AGAGGAGGAGGAGGAGGAGGA to AGAGGAGGAGGAGGAGGA
at 105676448 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
| 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: 98.5%
- 3x: 97.1%
- 10x: 91.8%
- 20x: 78.7%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano8 |
GCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTC |
8: 71,933,615 (GRCm39) |
|
probably benign |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| Bpifb9a |
G |
C |
2: 154,104,327 (GRCm39) |
E257Q |
possibly damaging |
Het |
| Cdh19 |
T |
C |
1: 110,882,314 (GRCm39) |
I59M |
probably benign |
Het |
| Cmah |
A |
G |
13: 24,619,645 (GRCm39) |
D171G |
probably damaging |
Het |
| Colec12 |
T |
C |
18: 9,866,837 (GRCm39) |
S683P |
unknown |
Het |
| Dixdc1 |
C |
T |
9: 50,614,546 (GRCm39) |
A168T |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,871,425 (GRCm39) |
D461G |
probably benign |
Het |
| Entpd3 |
A |
G |
9: 120,387,427 (GRCm39) |
H208R |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,546,350 (GRCm39) |
I39T |
probably damaging |
Het |
| Gprin3 |
T |
C |
6: 59,331,594 (GRCm39) |
N238D |
possibly damaging |
Het |
| Itpr3 |
G |
T |
17: 27,310,343 (GRCm39) |
A403S |
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
| Mtor |
G |
C |
4: 148,623,287 (GRCm39) |
G2046R |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,247,007 (GRCm39) |
S1243P |
possibly damaging |
Het |
| Net1 |
A |
T |
13: 3,934,375 (GRCm39) |
C441S |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,021,169 (GRCm39) |
F552S |
probably damaging |
Het |
| Or2y15 |
G |
A |
11: 49,351,047 (GRCm39) |
M180I |
probably benign |
Het |
| Or4k47 |
A |
T |
2: 111,451,870 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or9i16 |
C |
A |
19: 13,865,159 (GRCm39) |
Q138H |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,395,755 (GRCm39) |
I88V |
probably benign |
Het |
| Phf1 |
A |
G |
17: 27,153,307 (GRCm39) |
T42A |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,187,950 (GRCm39) |
Y3453H |
probably damaging |
Het |
| Rabgef1 |
T |
G |
5: 130,241,703 (GRCm39) |
L369* |
probably null |
Het |
| Rufy1 |
A |
T |
11: 50,305,425 (GRCm39) |
|
probably null |
Het |
| Sec16b |
T |
C |
1: 157,388,487 (GRCm39) |
V618A |
probably benign |
Het |
| Sh3rf1 |
A |
G |
8: 61,846,821 (GRCm39) |
R876G |
possibly damaging |
Het |
| Slc26a8 |
A |
G |
17: 28,891,772 (GRCm39) |
Y126H |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zp1 |
G |
A |
19: 10,896,275 (GRCm39) |
T150I |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAACTCTCTGCACCTGTGTCACC -3'
(R):5'- ATTTCCCATGTCCCGTCATGGAGC -3'
Sequencing Primer
(F):5'- GTGTCACCAGCTATTGAATGTC -3'
(R):5'- CTAAGGGGCTGGCACCTAAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation