Incidental Mutation 'R7397:Ak5'
ID 573876
Institutional Source Beutler Lab
Gene Symbol Ak5
Ensembl Gene ENSMUSG00000039058
Gene Name adenylate kinase 5
Synonyms
MMRRC Submission 045479-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R7397 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 152168461-152373992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152183989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 473 (F473I)
Ref Sequence ENSEMBL: ENSMUSP00000042785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045262]
AlphaFold Q920P5
Predicted Effect probably damaging
Transcript: ENSMUST00000045262
AA Change: F473I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042785
Gene: ENSMUSG00000039058
AA Change: F473I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430550D23Rik T C 2: 155,845,848 (GRCm39) H3R unknown Het
Adam18 T A 8: 25,136,321 (GRCm39) E400V possibly damaging Het
Arhgef10l G A 4: 140,290,115 (GRCm39) P486S probably damaging Het
Asphd1 T A 7: 126,548,001 (GRCm39) R101W possibly damaging Het
Bhlha15 G A 5: 144,128,223 (GRCm39) E112K probably damaging Het
C4b A T 17: 34,961,364 (GRCm39) D198E possibly damaging Het
Carmil1 G T 13: 24,228,294 (GRCm39) P961T probably damaging Het
Catsperb T C 12: 101,554,282 (GRCm39) S659P possibly damaging Het
Cdh3 C T 8: 107,263,241 (GRCm39) R97* probably null Het
Cep192 T C 18: 67,989,268 (GRCm39) I1805T probably damaging Het
Cep250 T G 2: 155,823,331 (GRCm39) L995R probably damaging Het
Cfap276 T A 3: 108,450,864 (GRCm39) I102N probably benign Het
Cfap53 T C 18: 74,416,294 (GRCm39) V9A possibly damaging Het
Chd5 A G 4: 152,452,469 (GRCm39) K809E possibly damaging Het
Csmd3 T C 15: 47,559,130 (GRCm39) T1467A Het
Ctla2a T A 13: 61,083,463 (GRCm39) R60S probably damaging Het
Cts6 A T 13: 61,350,014 (GRCm39) D22E possibly damaging Het
Ctsll3 T A 13: 60,948,532 (GRCm39) E109V probably benign Het
Dgka G A 10: 128,556,594 (GRCm39) P701S possibly damaging Het
Dnhd1 A T 7: 105,354,504 (GRCm39) I3089F possibly damaging Het
Dock2 T A 11: 34,609,816 (GRCm39) D208V probably benign Het
Fnbp1l G T 3: 122,338,286 (GRCm39) Q520K probably benign Het
Foxc1 A G 13: 31,991,618 (GRCm39) D143G probably damaging Het
Fsip2 G A 2: 82,815,601 (GRCm39) R3778Q possibly damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gm4871 A T 5: 144,969,508 (GRCm39) C4S probably damaging Het
Gpt C A 15: 76,582,717 (GRCm39) T294K probably benign Het
Hsd17b4 G T 18: 50,279,491 (GRCm39) G157C probably damaging Het
Iars1 G A 13: 49,882,153 (GRCm39) E1066K probably benign Het
Ifih1 G A 2: 62,453,832 (GRCm39) T260I possibly damaging Het
Ighv5-8 TATATATATATATATATATATA TATATATATATATATATATATATA 12: 113,618,565 (GRCm39) probably null Het
Ipcef1 T A 10: 6,922,244 (GRCm39) *338R probably null Het
Kif20a A G 18: 34,760,729 (GRCm39) T166A probably damaging Het
Map3k1 G A 13: 111,891,742 (GRCm39) A1171V probably damaging Het
Map3k21 T C 8: 126,661,855 (GRCm39) F484S probably damaging Het
Mbnl1 A T 3: 60,523,051 (GRCm39) Q180L probably benign Het
Mmp2 T C 8: 93,562,755 (GRCm39) F331L possibly damaging Het
Ms4a7 G T 19: 11,298,916 (GRCm39) H257N probably benign Het
Mtbp T A 15: 55,432,547 (GRCm39) S285T probably benign Het
Mtrex A T 13: 113,058,220 (GRCm39) D70E probably benign Het
Myo1c A G 11: 75,562,068 (GRCm39) N852S probably benign Het
Myom3 T A 4: 135,510,429 (GRCm39) F574Y probably damaging Het
Nbeal2 A G 9: 110,457,100 (GRCm39) I2322T possibly damaging Het
Nlrp10 A G 7: 108,523,899 (GRCm39) L527P probably damaging Het
Nudt16l2 A T 9: 105,021,621 (GRCm39) W142R probably damaging Het
Nxnl1 C T 8: 72,019,105 (GRCm39) G40D probably damaging Het
Or52n1 C T 7: 104,382,815 (GRCm39) C252Y possibly damaging Het
Or5af1 C T 11: 58,722,115 (GRCm39) T45M probably benign Het
Otof A T 5: 30,533,051 (GRCm39) W1564R probably damaging Het
Pcdhga7 A G 18: 37,850,327 (GRCm39) Y778C probably benign Het
Pcnx2 C T 8: 126,617,624 (GRCm39) probably null Het
Pdpr T A 8: 111,839,385 (GRCm39) N169K possibly damaging Het
Pkd1l2 C A 8: 117,762,641 (GRCm39) V1379F possibly damaging Het
Ppp4r1 T G 17: 66,144,786 (GRCm39) I801S probably benign Het
Ppp4r4 A T 12: 103,579,065 (GRCm39) probably null Het
Prl2c5 A G 13: 13,366,327 (GRCm39) D202G probably benign Het
Rap1gap2 T C 11: 74,305,237 (GRCm39) T323A probably benign Het
Rapgef4 T C 2: 72,036,010 (GRCm39) M501T probably benign Het
Rbm6 A G 9: 107,729,718 (GRCm39) M310T probably benign Het
Rdh1 A T 10: 127,596,047 (GRCm39) I81F probably benign Het
Rock1 C T 18: 10,097,599 (GRCm39) A730T possibly damaging Het
Rsl1 C T 13: 67,330,101 (GRCm39) T183I possibly damaging Het
Scyl3 T C 1: 163,778,487 (GRCm39) probably null Het
Snap29 T C 16: 17,237,236 (GRCm39) F116L probably damaging Het
Syt5 A T 7: 4,545,395 (GRCm39) probably null Het
Tat T C 8: 110,724,200 (GRCm39) L363P probably damaging Het
Ttn A G 2: 76,601,316 (GRCm39) V18719A possibly damaging Het
Ube2e2 T A 14: 18,630,339 (GRCm38) D107V probably damaging Het
Vmn1r64 A G 7: 5,887,013 (GRCm39) S177P possibly damaging Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S possibly damaging Het
Vmn2r124 T C 17: 18,282,947 (GRCm39) W214R probably damaging Het
Vmn2r25 A T 6: 123,800,498 (GRCm39) F615I probably damaging Het
Vmn2r91 G T 17: 18,356,060 (GRCm39) V576L probably benign Het
Vsig10l A C 7: 43,117,431 (GRCm39) T573P probably damaging Het
Wdr93 A G 7: 79,416,172 (GRCm39) Q276R probably null Het
Zc3h7b T C 15: 81,653,354 (GRCm39) V86A possibly damaging Het
Zeb1 T A 18: 5,761,394 (GRCm39) Y231N probably damaging Het
Zfp407 T C 18: 84,579,944 (GRCm39) K390E possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
IGL02661:Ak5 APN 3 152,169,593 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CAGACTTAGTTTTCTGCGAGGTC -3'
(R):5'- TCCCCTCCCAGAAGAATGTC -3'

Sequencing Primer
(F):5'- GCTAGACCGGTCATTCCTG -3'
(R):5'- CCTCCCAGAAGAATGTCTGAGG -3'
Posted On 2019-09-13