Incidental Mutation 'IGL02661:Ak5'
ID |
302553 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ak5
|
Ensembl Gene |
ENSMUSG00000039058 |
Gene Name |
adenylate kinase 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
IGL02661
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
152168461-152373992 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 152169593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 561
(V561F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042785
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045262]
[ENSMUST00000089982]
[ENSMUST00000106100]
[ENSMUST00000106101]
[ENSMUST00000106103]
[ENSMUST00000200570]
|
AlphaFold |
Q920P5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045262
AA Change: V561F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042785 Gene: ENSMUSG00000039058 AA Change: V561F
Domain | Start | End | E-Value | Type |
Pfam:AAA_17
|
134 |
263 |
1.1e-8 |
PFAM |
Pfam:AAA_18
|
135 |
274 |
3e-10 |
PFAM |
Pfam:ADK
|
137 |
294 |
5.8e-35 |
PFAM |
Pfam:AAA_17
|
378 |
525 |
2.9e-8 |
PFAM |
Pfam:ADK
|
381 |
537 |
1.9e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089982
|
SMART Domains |
Protein: ENSMUSP00000087428 Gene: ENSMUSG00000039068
Domain | Start | End | E-Value | Type |
SANT
|
657 |
711 |
1.42e-9 |
SMART |
low complexity region
|
776 |
787 |
N/A |
INTRINSIC |
low complexity region
|
799 |
814 |
N/A |
INTRINSIC |
ZnF_ZZ
|
823 |
871 |
6.46e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106100
|
SMART Domains |
Protein: ENSMUSP00000101706 Gene: ENSMUSG00000039068
Domain | Start | End | E-Value | Type |
SANT
|
658 |
712 |
1.42e-9 |
SMART |
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
ZnF_ZZ
|
824 |
872 |
6.46e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106101
|
SMART Domains |
Protein: ENSMUSP00000101707 Gene: ENSMUSG00000039068
Domain | Start | End | E-Value | Type |
SANT
|
658 |
712 |
1.42e-9 |
SMART |
low complexity region
|
777 |
788 |
N/A |
INTRINSIC |
low complexity region
|
800 |
815 |
N/A |
INTRINSIC |
ZnF_ZZ
|
824 |
872 |
6.46e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106103
|
SMART Domains |
Protein: ENSMUSP00000101709 Gene: ENSMUSG00000039068
Domain | Start | End | E-Value | Type |
SANT
|
157 |
211 |
1.42e-9 |
SMART |
low complexity region
|
276 |
287 |
N/A |
INTRINSIC |
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
ZnF_ZZ
|
323 |
371 |
6.46e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200062
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200570
|
SMART Domains |
Protein: ENSMUSP00000143693 Gene: ENSMUSG00000039068
Domain | Start | End | E-Value | Type |
SANT
|
161 |
215 |
1.42e-9 |
SMART |
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
ZnF_ZZ
|
327 |
375 |
6.46e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034E13Rik |
G |
T |
18: 52,793,566 (GRCm39) |
W33L |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,104,572 (GRCm39) |
C358S |
probably damaging |
Het |
Ap1s1 |
T |
C |
5: 137,066,327 (GRCm39) |
D158G |
probably benign |
Het |
Bard1 |
A |
G |
1: 71,114,469 (GRCm39) |
S171P |
probably damaging |
Het |
Bsn |
A |
C |
9: 107,984,135 (GRCm39) |
Y534* |
probably null |
Het |
Clcn4 |
A |
T |
7: 7,294,730 (GRCm39) |
|
probably null |
Het |
Cyp2j7 |
T |
C |
4: 96,124,887 (GRCm39) |
T4A |
probably benign |
Het |
Dnajc10 |
T |
A |
2: 80,157,084 (GRCm39) |
|
probably benign |
Het |
Dtl |
G |
T |
1: 191,273,483 (GRCm39) |
T475N |
probably benign |
Het |
Eif3m |
T |
C |
2: 104,835,314 (GRCm39) |
Y120C |
probably damaging |
Het |
Gab1 |
A |
G |
8: 81,515,566 (GRCm39) |
S251P |
probably damaging |
Het |
Gba1 |
T |
A |
3: 89,110,834 (GRCm39) |
V14E |
probably benign |
Het |
Ggcx |
C |
T |
6: 72,395,343 (GRCm39) |
P145S |
possibly damaging |
Het |
Gm13889 |
G |
A |
2: 93,787,024 (GRCm39) |
T150I |
probably benign |
Het |
Gm4978 |
C |
A |
9: 69,358,180 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,762,821 (GRCm39) |
D850G |
probably damaging |
Het |
Hspa1l |
A |
G |
17: 35,196,251 (GRCm39) |
I97V |
probably benign |
Het |
Ighv1-4 |
T |
G |
12: 114,450,850 (GRCm39) |
K86T |
probably damaging |
Het |
Ints4 |
C |
A |
7: 97,144,912 (GRCm39) |
L175I |
probably benign |
Het |
Kif13b |
T |
G |
14: 65,005,140 (GRCm39) |
V1144G |
probably benign |
Het |
Kpna3 |
T |
A |
14: 61,610,398 (GRCm39) |
|
probably benign |
Het |
Man2c1 |
A |
G |
9: 57,044,766 (GRCm39) |
D371G |
probably damaging |
Het |
Mtf1 |
T |
C |
4: 124,718,902 (GRCm39) |
L305P |
probably damaging |
Het |
Myo15b |
T |
G |
11: 115,774,895 (GRCm39) |
V2139G |
probably benign |
Het |
Nalcn |
T |
C |
14: 123,830,321 (GRCm39) |
|
probably benign |
Het |
Neurod2 |
T |
C |
11: 98,218,405 (GRCm39) |
Q253R |
possibly damaging |
Het |
Nfkbil1 |
C |
A |
17: 35,439,647 (GRCm39) |
A289S |
probably benign |
Het |
Or4k35 |
T |
A |
2: 111,099,811 (GRCm39) |
R300S |
possibly damaging |
Het |
Paxbp1 |
A |
T |
16: 90,827,413 (GRCm39) |
I474K |
probably benign |
Het |
Pde6c |
A |
T |
19: 38,169,248 (GRCm39) |
I798F |
probably damaging |
Het |
Pon3 |
T |
A |
6: 5,256,205 (GRCm39) |
T8S |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,587,689 (GRCm39) |
T2525A |
possibly damaging |
Het |
Rnase10 |
T |
G |
14: 51,247,273 (GRCm39) |
V180G |
probably damaging |
Het |
Rreb1 |
T |
A |
13: 38,114,778 (GRCm39) |
C712* |
probably null |
Het |
Scamp2 |
T |
C |
9: 57,494,697 (GRCm39) |
|
probably benign |
Het |
Serpina3i |
A |
T |
12: 104,231,515 (GRCm39) |
K51* |
probably null |
Het |
Smyd4 |
C |
A |
11: 75,281,767 (GRCm39) |
C413* |
probably null |
Het |
Spata2 |
C |
T |
2: 167,325,281 (GRCm39) |
V513M |
probably damaging |
Het |
Sri |
T |
A |
5: 8,113,252 (GRCm39) |
|
probably benign |
Het |
Urah |
A |
T |
7: 140,417,618 (GRCm39) |
K119M |
probably damaging |
Het |
Wdr19 |
C |
T |
5: 65,403,151 (GRCm39) |
T1005I |
probably benign |
Het |
|
Other mutations in Ak5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02178:Ak5
|
APN |
3 |
152,232,422 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02237:Ak5
|
APN |
3 |
152,204,980 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03097:Ak5
|
UTSW |
3 |
152,366,151 (GRCm39) |
critical splice donor site |
probably null |
|
R0645:Ak5
|
UTSW |
3 |
152,359,252 (GRCm39) |
missense |
probably damaging |
1.00 |
R1135:Ak5
|
UTSW |
3 |
152,359,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R1346:Ak5
|
UTSW |
3 |
152,239,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1347:Ak5
|
UTSW |
3 |
152,239,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1347:Ak5
|
UTSW |
3 |
152,239,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Ak5
|
UTSW |
3 |
152,239,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R1749:Ak5
|
UTSW |
3 |
152,178,557 (GRCm39) |
missense |
probably damaging |
0.99 |
R2059:Ak5
|
UTSW |
3 |
152,366,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R3929:Ak5
|
UTSW |
3 |
152,373,444 (GRCm39) |
missense |
probably damaging |
0.98 |
R4433:Ak5
|
UTSW |
3 |
152,361,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R4909:Ak5
|
UTSW |
3 |
152,361,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R5052:Ak5
|
UTSW |
3 |
152,366,204 (GRCm39) |
missense |
probably benign |
0.00 |
R5097:Ak5
|
UTSW |
3 |
152,187,270 (GRCm39) |
missense |
probably damaging |
0.99 |
R5645:Ak5
|
UTSW |
3 |
152,361,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5907:Ak5
|
UTSW |
3 |
152,321,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R6505:Ak5
|
UTSW |
3 |
152,187,306 (GRCm39) |
missense |
probably benign |
0.01 |
R7117:Ak5
|
UTSW |
3 |
152,321,493 (GRCm39) |
critical splice donor site |
probably null |
|
R7397:Ak5
|
UTSW |
3 |
152,183,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R7455:Ak5
|
UTSW |
3 |
152,187,209 (GRCm39) |
missense |
probably damaging |
0.99 |
R8440:Ak5
|
UTSW |
3 |
152,209,680 (GRCm39) |
splice site |
probably null |
|
R8802:Ak5
|
UTSW |
3 |
152,321,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R8943:Ak5
|
UTSW |
3 |
152,361,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R9002:Ak5
|
UTSW |
3 |
152,359,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R9130:Ak5
|
UTSW |
3 |
152,178,569 (GRCm39) |
nonsense |
probably null |
|
X0023:Ak5
|
UTSW |
3 |
152,321,664 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Ak5
|
UTSW |
3 |
152,359,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |