Incidental Mutation 'R1349:Ak5'
ID156592
Institutional Source Beutler Lab
Gene Symbol Ak5
Ensembl Gene ENSMUSG00000039058
Gene Nameadenylate kinase 5
Synonyms
MMRRC Submission 039414-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #R1349 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location152462815-152668360 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 152533434 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 301 (D301E)
Ref Sequence ENSEMBL: ENSMUSP00000042785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045262]
Predicted Effect probably damaging
Transcript: ENSMUST00000045262
AA Change: D301E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: D301E

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
Meta Mutation Damage Score 0.1383 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.8%
Validation Efficiency 98% (46/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik G A 8: 124,861,253 T36I possibly damaging Het
Adcy2 T A 13: 68,668,533 N778I probably damaging Het
Akap13 G A 7: 75,609,592 G655S possibly damaging Het
Ankrd28 A T 14: 31,745,261 M248K probably benign Het
Atf7ip2 G A 16: 10,234,331 V225I probably damaging Het
Ccdc151 C T 9: 21,993,620 R290H probably damaging Het
Ccdc157 A T 11: 4,149,056 I48N probably benign Het
Cd209d C A 8: 3,878,515 probably benign Het
Cecr2 G A 6: 120,757,603 G613E probably damaging Het
Clspn C T 4: 126,563,977 A98V probably benign Het
Cntnap5b G A 1: 100,164,088 D499N probably benign Het
Cox7a2 G A 9: 79,758,537 R21* probably null Het
Cul9 C G 17: 46,522,175 A1326P probably damaging Het
Dbpht2 C CNNNNNNNNNNNNNNNNNN 12: 74,299,062 noncoding transcript Het
Dlg1 T C 16: 31,812,820 I208T probably damaging Het
Dmxl1 A T 18: 49,888,853 N1612Y probably damaging Het
Epha3 A G 16: 63,611,053 I495T possibly damaging Het
Frem1 T C 4: 82,922,305 probably benign Het
Glipr1 A G 10: 111,993,532 V108A probably benign Het
Gm4778 A G 3: 94,266,128 T148A possibly damaging Het
Gpatch2l T C 12: 86,260,709 L287P possibly damaging Het
Hp T G 8: 109,575,306 K337Q probably benign Het
Htr1a T A 13: 105,445,366 C371* probably null Het
Leo1 T C 9: 75,449,469 V377A possibly damaging Het
Lsg1 A G 16: 30,564,654 F583L possibly damaging Het
Map4k4 C A 1: 40,021,159 P1103Q probably damaging Het
Mybph T C 1: 134,193,615 S38P probably benign Het
Myo1e T G 9: 70,287,069 probably benign Het
Nefh T TNNNNNNNNNNNNNNNNNN 11: 4,941,010 probably benign Het
Oca2 T A 7: 56,535,968 M814K probably benign Het
Pkd1 T C 17: 24,575,266 C1976R probably damaging Het
Pogz T A 3: 94,860,888 L126M probably damaging Het
Rec8 T C 14: 55,618,974 Y68H probably damaging Het
Ryr3 T A 2: 112,834,201 S1582C probably damaging Het
Sh3pxd2a A T 19: 47,267,721 W853R probably damaging Het
Slc6a7 C T 18: 61,000,543 G527D probably benign Het
Tgm1 A G 14: 55,711,201 probably benign Het
Tnxb T C 17: 34,710,293 V2770A possibly damaging Het
Togaram1 T A 12: 65,011,145 M1502K probably damaging Het
Vmn1r11 G A 6: 57,137,978 C209Y probably benign Het
Vmn2r102 A T 17: 19,660,625 probably benign Het
Vmn2r12 T C 5: 109,086,586 M587V probably benign Het
Vmn2r63 A G 7: 42,929,218 F84L possibly damaging Het
Wdr35 A T 12: 9,019,870 probably benign Het
Wdr73 C A 7: 80,893,252 V176L probably damaging Het
Other mutations in Ak5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02178:Ak5 APN 3 152526785 missense probably benign 0.28
IGL02237:Ak5 APN 3 152499343 missense probably benign 0.44
IGL02661:Ak5 APN 3 152463956 missense probably benign
IGL03097:Ak5 UTSW 3 152660514 critical splice donor site probably null
R0645:Ak5 UTSW 3 152653615 missense probably damaging 1.00
R1135:Ak5 UTSW 3 152653662 missense probably damaging 1.00
R1346:Ak5 UTSW 3 152533434 missense probably damaging 1.00
R1347:Ak5 UTSW 3 152533434 missense probably damaging 1.00
R1347:Ak5 UTSW 3 152533434 missense probably damaging 1.00
R1749:Ak5 UTSW 3 152472920 missense probably damaging 0.99
R2059:Ak5 UTSW 3 152660637 missense probably damaging 1.00
R3929:Ak5 UTSW 3 152667807 missense probably damaging 0.98
R4433:Ak5 UTSW 3 152655880 missense probably damaging 1.00
R4909:Ak5 UTSW 3 152655877 missense probably damaging 1.00
R5052:Ak5 UTSW 3 152660567 missense probably benign 0.00
R5097:Ak5 UTSW 3 152481633 missense probably damaging 0.99
R5645:Ak5 UTSW 3 152656033 missense possibly damaging 0.92
R5907:Ak5 UTSW 3 152615952 missense probably damaging 1.00
R6505:Ak5 UTSW 3 152481669 missense probably benign 0.01
R7117:Ak5 UTSW 3 152615856 critical splice donor site probably null
R7397:Ak5 UTSW 3 152478352 missense probably damaging 1.00
R7455:Ak5 UTSW 3 152481572 missense probably damaging 0.99
X0023:Ak5 UTSW 3 152616027 missense probably damaging 1.00
X0024:Ak5 UTSW 3 152653597 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTCAGCCACTGATAAAAGTCCTG -3'
(R):5'- AAAAGGCTGCCACTTTTCTTAGCCAC -3'

Sequencing Primer
(F):5'- AAAAGTCCTGGCTCATCTGG -3'
(R):5'- TAGCCACCATGACTGAACATTTTC -3'
Posted On2014-02-11