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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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