Incidental Mutation 'R7724:Ak7'
| ID |
595414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak7
|
| Ensembl Gene |
ENSMUSG00000041323 |
| Gene Name |
adenylate kinase 7 |
| Synonyms |
4930502N02Rik |
| MMRRC Submission |
045780-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
105672235-105748706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105682289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 150
(I150N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040876]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040876
AA Change: I150N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: I150N
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
C |
15: 57,885,857 (GRCm39) |
S342A |
probably benign |
Het |
| Adarb2 |
C |
A |
13: 8,620,292 (GRCm39) |
H259Q |
probably benign |
Het |
| Arhgef12 |
A |
T |
9: 42,938,567 (GRCm39) |
I75N |
probably damaging |
Het |
| Arhgef17 |
C |
T |
7: 100,529,816 (GRCm39) |
G480S |
probably damaging |
Het |
| Atic |
T |
C |
1: 71,604,060 (GRCm39) |
Y208H |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,164,813 (GRCm39) |
N1168Y |
possibly damaging |
Het |
| Ccdc202 |
A |
G |
14: 96,119,686 (GRCm39) |
N148D |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,593,700 (GRCm39) |
D765Y |
probably damaging |
Het |
| Celf4 |
C |
T |
18: 25,619,850 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
G |
A |
10: 41,621,838 (GRCm39) |
T26M |
possibly damaging |
Het |
| Ces2g |
T |
A |
8: 105,693,484 (GRCm39) |
D388E |
probably benign |
Het |
| Cir1 |
T |
C |
2: 73,137,234 (GRCm39) |
N69S |
possibly damaging |
Het |
| Ctc1 |
C |
A |
11: 68,917,170 (GRCm39) |
H355N |
probably benign |
Het |
| Ebf2 |
A |
T |
14: 67,661,489 (GRCm39) |
K539M |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fat2 |
C |
T |
11: 55,175,622 (GRCm39) |
G1697E |
probably damaging |
Het |
| Fga |
A |
G |
3: 82,936,432 (GRCm39) |
D76G |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,642,894 (GRCm39) |
S1786T |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,229,888 (GRCm39) |
E18D |
probably damaging |
Het |
| Gbp8 |
A |
T |
5: 105,179,160 (GRCm39) |
I113N |
probably damaging |
Het |
| Gm10549 |
A |
T |
18: 33,603,912 (GRCm39) |
R132* |
probably null |
Het |
| Gmps |
T |
A |
3: 63,893,074 (GRCm39) |
D126E |
possibly damaging |
Het |
| Gria4 |
A |
G |
9: 4,472,074 (GRCm39) |
Y472H |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,873,789 (GRCm39) |
Y2235C |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,230,323 (GRCm39) |
N187S |
unknown |
Het |
| Ifit1bl1 |
T |
C |
19: 34,571,405 (GRCm39) |
K351E |
probably benign |
Het |
| Klhl23 |
A |
G |
2: 69,655,056 (GRCm39) |
T309A |
probably benign |
Het |
| Ldhal6b |
A |
G |
17: 5,468,877 (GRCm39) |
V19A |
probably benign |
Het |
| Lrrc59 |
C |
T |
11: 94,534,170 (GRCm39) |
R243C |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 103,923,243 (GRCm39) |
I1158R |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,922,833 (GRCm39) |
Y613N |
probably damaging |
Het |
| Myoc |
T |
A |
1: 162,467,396 (GRCm39) |
|
probably null |
Het |
| Npas3 |
C |
A |
12: 54,115,124 (GRCm39) |
S682Y |
possibly damaging |
Het |
| Ogdh |
T |
C |
11: 6,274,887 (GRCm39) |
V172A |
probably benign |
Het |
| Or2t46 |
T |
A |
11: 58,472,208 (GRCm39) |
H179Q |
probably benign |
Het |
| Or52r1c |
T |
A |
7: 102,735,470 (GRCm39) |
C243* |
probably null |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,777,459 (GRCm39) |
Y52H |
probably damaging |
Het |
| Or8k30 |
A |
G |
2: 86,338,949 (GRCm39) |
T49A |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,775 (GRCm39) |
S32T |
possibly damaging |
Het |
| P2rx7 |
A |
T |
5: 122,811,436 (GRCm39) |
I331F |
probably benign |
Het |
| Pcdhb14 |
A |
T |
18: 37,581,937 (GRCm39) |
T348S |
possibly damaging |
Het |
| Prdx6b |
A |
G |
2: 80,123,746 (GRCm39) |
E185G |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,600,576 (GRCm39) |
K200E |
possibly damaging |
Het |
| Sema6c |
A |
T |
3: 95,080,510 (GRCm39) |
R935W |
probably damaging |
Het |
| Serpinb5 |
A |
T |
1: 106,802,872 (GRCm39) |
I136F |
probably damaging |
Het |
| Skint10 |
A |
T |
4: 112,622,289 (GRCm39) |
Y31* |
probably null |
Het |
| St6galnac1 |
C |
T |
11: 116,656,898 (GRCm39) |
|
probably null |
Het |
| Synj1 |
G |
A |
16: 90,758,387 (GRCm39) |
T819M |
probably damaging |
Het |
| Tacr3 |
T |
A |
3: 134,635,669 (GRCm39) |
V291E |
probably damaging |
Het |
| Tdo2 |
A |
G |
3: 81,875,390 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
A |
8: 34,036,291 (GRCm39) |
D72E |
possibly damaging |
Het |
| Tph2 |
T |
C |
10: 114,915,727 (GRCm39) |
T438A |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,187 (GRCm39) |
T525A |
probably benign |
Het |
| Ulk1 |
A |
T |
5: 110,940,270 (GRCm39) |
C384S |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,170 (GRCm39) |
D290G |
probably benign |
Het |
| Zfp541 |
T |
C |
7: 15,805,919 (GRCm39) |
L18P |
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 |
|
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 |
|
|
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'- GTCTTTACCCTCTGACAAGCT -3'
(R):5'- GTGTGTCGACTCCCAGACC -3'
Sequencing Primer
(F):5'- GAGGTTCCCACACTCATTATGAACTG -3'
(R):5'- CCCTAACATGAATTCACTTAGGGTTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation