Incidental Mutation 'R8980:Ak7'
| ID |
683700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ak7
|
| Ensembl Gene |
ENSMUSG00000041323 |
| Gene Name |
adenylate kinase 7 |
| Synonyms |
4930502N02Rik |
| MMRRC Submission |
068813-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8980 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105672235-105748706 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105747158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 675
(V675E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043145
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000040876]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000164326]
[ENSMUST00000166329]
[ENSMUST00000166735]
[ENSMUST00000168186]
[ENSMUST00000169938]
[ENSMUST00000170002]
[ENSMUST00000170540]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021535
|
| SMART Domains |
Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
1.5e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
2.4e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
8.9e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040876
AA Change: V675E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000043145
Gene: ENSMUSG00000041323
AA Change: V675E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109901
|
| SMART Domains |
Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:PAP_central
|
21 |
364 |
4.1e-120 |
PFAM |
|
Pfam:NTP_transf_2
|
82 |
175 |
8.1e-16 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
435 |
4.1e-21 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163473
|
| SMART Domains |
Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
9.2e-112 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
3.3e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
4.6e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164326
|
| SMART Domains |
Protein: ENSMUSP00000125818
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
64 |
9.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166329
|
| SMART Domains |
Protein: ENSMUSP00000131725
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
99 |
4.8e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166735
|
| SMART Domains |
Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
283 |
9.4e-73 |
PFAM |
|
Pfam:NTP_transf_2
|
72 |
175 |
5.7e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168186
|
| SMART Domains |
Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
1.1e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
3.6e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
5e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169938
|
| SMART Domains |
Protein: ENSMUSP00000130687
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
157 |
4.5e-17 |
PFAM |
|
Pfam:NTP_transf_2
|
74 |
166 |
2.3e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170002
|
| SMART Domains |
Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
1e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
3.5e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
4.8e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170540
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
C |
16: 14,278,961 (GRCm39) |
M1090I |
probably damaging |
Het |
| Ano10 |
T |
A |
9: 122,090,558 (GRCm39) |
I252L |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,865,563 (GRCm39) |
Y828C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,873 (GRCm39) |
S40R |
probably damaging |
Het |
| Bcl2l11 |
T |
A |
2: 128,000,200 (GRCm39) |
I181N |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,173,625 (GRCm39) |
Y1621C |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,390 (GRCm39) |
N207K |
probably benign |
Het |
| Clock |
T |
C |
5: 76,402,286 (GRCm39) |
I125V |
probably benign |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,127,734 (GRCm39) |
H614Q |
probably benign |
Het |
| Gm29106 |
G |
A |
1: 118,127,114 (GRCm39) |
G269R |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,330,689 (GRCm39) |
V108A |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,614,783 (GRCm39) |
C185* |
probably null |
Het |
| Josd2 |
A |
G |
7: 44,117,702 (GRCm39) |
|
probably benign |
Het |
| Krt76 |
C |
T |
15: 101,800,990 (GRCm39) |
G102D |
unknown |
Het |
| Nrap |
T |
A |
19: 56,343,970 (GRCm39) |
S645C |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,423 (GRCm39) |
I46M |
probably damaging |
Het |
| Pramel38 |
T |
C |
5: 94,366,035 (GRCm39) |
L51P |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,360,470 (GRCm39) |
F46I |
probably benign |
Het |
| Prss16 |
C |
T |
13: 22,187,212 (GRCm39) |
V453I |
probably benign |
Het |
| Psd |
A |
G |
19: 46,310,657 (GRCm39) |
L464P |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,119,526 (GRCm39) |
L220P |
probably benign |
Het |
| Rab7 |
A |
T |
6: 87,977,502 (GRCm39) |
V180E |
probably benign |
Het |
| Rc3h1 |
A |
G |
1: 160,782,595 (GRCm39) |
I691M |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,717,087 (GRCm39) |
N198S |
probably benign |
Het |
| Sema4g |
A |
T |
19: 44,981,583 (GRCm39) |
M100L |
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 56,816,949 (GRCm39) |
S106P |
probably benign |
Het |
| Slc27a5 |
C |
A |
7: 12,725,090 (GRCm39) |
R452S |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,333,761 (GRCm39) |
|
probably null |
Het |
| Themis3 |
A |
T |
17: 66,862,536 (GRCm39) |
I474N |
probably damaging |
Het |
| Uckl1 |
C |
A |
2: 181,216,157 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,144 (GRCm39) |
V244A |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,010,501 (GRCm39) |
Y580N |
|
Het |
| Zfp1006 |
G |
A |
8: 129,945,680 (GRCm39) |
P382S |
probably damaging |
Het |
| Zfp11 |
T |
A |
5: 129,737,843 (GRCm39) |
M1L |
probably benign |
Het |
| Zfp462 |
TACCACCACCACCACCACCACCA |
TACCACCACCACCACCACCA |
4: 55,009,681 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,803,092 (GRCm39) |
S555P |
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 |
|
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 |
|
R9552:Ak7
|
UTSW |
12 |
105,676,448 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTAGTCTCAGTGCCC -3'
(R):5'- AGTCATGCTTCCTTTTCATTTTGATA -3'
Sequencing Primer
(F):5'- CTAGTCTCAGTGCCCTGGTG -3'
(R):5'- ATGTCTGTAACTCCAGTACCAGGG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation