Incidental Mutation 'R6960:Ak7'
ID |
541715 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ak7
|
Ensembl Gene |
ENSMUSG00000041323 |
Gene Name |
adenylate kinase 7 |
Synonyms |
4930502N02Rik |
MMRRC Submission |
045070-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6960 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
105672235-105748706 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105676503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 68
(T68S)
|
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: T68S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043145 Gene: ENSMUSG00000041323 AA Change: T68S
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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
98% (50/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,072,924 (GRCm39) |
D1170G |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,111,901 (GRCm39) |
N26K |
probably damaging |
Het |
B3galt1 |
A |
T |
2: 67,949,033 (GRCm39) |
E249D |
probably damaging |
Het |
Catsper4 |
T |
A |
4: 133,954,648 (GRCm39) |
M1L |
probably benign |
Het |
Cc2d2b |
T |
C |
19: 40,773,506 (GRCm39) |
V523A |
possibly damaging |
Het |
Ccn4 |
C |
T |
15: 66,791,047 (GRCm39) |
T283M |
probably benign |
Het |
Cyp11a1 |
T |
C |
9: 57,925,659 (GRCm39) |
F98S |
probably damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,674,446 (GRCm39) |
S479G |
probably damaging |
Het |
Dclre1a |
T |
G |
19: 56,531,141 (GRCm39) |
Y735S |
probably damaging |
Het |
Dio2 |
C |
T |
12: 90,696,671 (GRCm39) |
G106R |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,815,273 (GRCm39) |
|
probably benign |
Het |
Ehhadh |
C |
A |
16: 21,581,028 (GRCm39) |
V655L |
probably benign |
Het |
Ercc2 |
G |
A |
7: 19,127,615 (GRCm39) |
R379Q |
probably damaging |
Het |
Fabp4 |
A |
G |
3: 10,273,537 (GRCm39) |
V12A |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,223,980 (GRCm39) |
I590V |
probably benign |
Het |
Grm8 |
C |
A |
6: 27,981,281 (GRCm39) |
V210L |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,625,065 (GRCm39) |
D359G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,136,749 (GRCm39) |
Y1493N |
probably benign |
Het |
Lyst |
A |
G |
13: 13,808,663 (GRCm39) |
N111S |
probably benign |
Het |
Lyz2 |
G |
C |
10: 117,114,607 (GRCm39) |
I107M |
possibly damaging |
Het |
Mgat5 |
A |
T |
1: 127,248,371 (GRCm39) |
D91V |
possibly damaging |
Het |
Mical3 |
T |
A |
6: 120,935,504 (GRCm39) |
D1674V |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Naa16 |
A |
G |
14: 79,596,911 (GRCm39) |
Y358H |
possibly damaging |
Het |
Nktr |
T |
A |
9: 121,571,758 (GRCm39) |
H226Q |
probably damaging |
Het |
Ocln |
T |
G |
13: 100,635,380 (GRCm39) |
K503T |
possibly damaging |
Het |
Olfm4 |
T |
C |
14: 80,258,754 (GRCm39) |
L301S |
probably damaging |
Het |
Or4f4b |
G |
A |
2: 111,314,071 (GRCm39) |
V127I |
possibly damaging |
Het |
Or6c74 |
T |
C |
10: 129,869,972 (GRCm39) |
L159P |
probably benign |
Het |
Paqr4 |
G |
A |
17: 23,956,697 (GRCm39) |
A222V |
probably benign |
Het |
Pcdhb13 |
A |
G |
18: 37,576,509 (GRCm39) |
T296A |
probably benign |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,474,707 (GRCm39) |
V309A |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,264,196 (GRCm39) |
R462G |
probably benign |
Het |
Ptprc |
C |
T |
1: 138,006,183 (GRCm39) |
|
probably null |
Het |
Rabggta |
A |
C |
14: 55,959,299 (GRCm39) |
|
probably null |
Het |
Rnf25 |
A |
G |
1: 74,634,403 (GRCm39) |
S207P |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rtf1 |
A |
G |
2: 119,541,559 (GRCm39) |
Q264R |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,816,129 (GRCm39) |
V619A |
probably benign |
Het |
Serpinb6d |
A |
G |
13: 33,855,181 (GRCm39) |
N285S |
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,745,320 (GRCm39) |
M16V |
probably damaging |
Het |
Slc22a23 |
A |
G |
13: 34,528,140 (GRCm39) |
|
probably null |
Het |
Slc23a2 |
T |
C |
2: 131,933,173 (GRCm39) |
D95G |
probably damaging |
Het |
Smc3 |
T |
C |
19: 53,617,802 (GRCm39) |
Y600H |
probably damaging |
Het |
Tarbp1 |
G |
A |
8: 127,155,778 (GRCm39) |
T1320M |
possibly damaging |
Het |
Tigd4 |
A |
T |
3: 84,501,423 (GRCm39) |
K113N |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,952,763 (GRCm39) |
F1444I |
possibly damaging |
Het |
Tstd3 |
A |
T |
4: 21,767,118 (GRCm39) |
M1K |
probably null |
Het |
Zbtb46 |
T |
C |
2: 181,065,217 (GRCm39) |
D311G |
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 |
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 |
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'- GACACACAGGGCTTTTCTCAG -3'
(R):5'- CTAGTAACAGACTGCTAAGGGGC -3'
Sequencing Primer
(F):5'- TCTTCGGGGTCGACAGTAAAG -3'
(R):5'- ACTGCTAAGGGGCTGGCAC -3'
|
Posted On |
2018-11-28 |