Incidental Mutation 'R1472:Ak1'
ID 164960
Institutional Source Beutler Lab
Gene Symbol Ak1
Ensembl Gene ENSMUSG00000026817
Gene Name adenylate kinase 1
Synonyms B430205N08Rik, Ak-1
MMRRC Submission 039525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R1472 (G1)
Quality Score 221
Status Not validated
Chromosome 2
Chromosomal Location 32511770-32525070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32520313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 32 (L32P)
Ref Sequence ENSEMBL: ENSMUSP00000142174 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068271] [ENSMUST00000113277] [ENSMUST00000113278] [ENSMUST00000156578] [ENSMUST00000195721]
AlphaFold Q9R0Y5
Predicted Effect probably damaging
Transcript: ENSMUST00000068271
AA Change: L53P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068479
Gene: ENSMUSG00000026817
AA Change: L53P

DomainStartEndE-ValueType
Pfam:AAA_33 26 173 2.7e-10 PFAM
Pfam:AAA_17 26 194 5.4e-8 PFAM
Pfam:ADK 29 185 1.3e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113277
AA Change: L37P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108902
Gene: ENSMUSG00000026817
AA Change: L37P

DomainStartEndE-ValueType
Pfam:AAA_33 10 159 2.7e-10 PFAM
Pfam:AAA_17 10 171 5.4e-11 PFAM
Pfam:AAA_18 11 149 7.6e-8 PFAM
Pfam:ADK 13 169 7.5e-56 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113278
AA Change: L37P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108903
Gene: ENSMUSG00000026817
AA Change: L37P

DomainStartEndE-ValueType
Pfam:AAA_33 10 159 2.7e-10 PFAM
Pfam:AAA_17 10 171 5.4e-11 PFAM
Pfam:AAA_18 11 149 7.6e-8 PFAM
Pfam:ADK 13 169 7.5e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135392
Predicted Effect probably damaging
Transcript: ENSMUST00000156578
AA Change: L37P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123534
Gene: ENSMUSG00000026817
AA Change: L37P

DomainStartEndE-ValueType
Pfam:AAA_17 10 86 1.5e-10 PFAM
Pfam:ADK 13 89 3.5e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000195721
AA Change: L32P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142174
Gene: ENSMUSG00000026817
AA Change: L32P

DomainStartEndE-ValueType
Pfam:ADK 13 96 2e-32 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit increased adenosine triphosphate (ATP) turnover and reduced efficiency of ATP utilization during muscle contraction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,773,313 (GRCm39) T834M possibly damaging Het
Ankrd24 A G 10: 81,470,754 (GRCm39) D61G probably damaging Het
Atp13a2 T C 4: 140,721,113 (GRCm39) S99P probably damaging Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Bmp10 A G 6: 87,410,779 (GRCm39) I191V probably benign Het
C2cd6 A T 1: 59,106,944 (GRCm39) S294T possibly damaging Het
C4b T A 17: 34,962,743 (GRCm39) K20* probably null Het
Caps2 C T 10: 112,015,377 (GRCm39) T139I probably benign Het
Cdc25a T C 9: 109,705,157 (GRCm39) S34P probably benign Het
Cenpv T C 11: 62,427,121 (GRCm39) I146V probably benign Het
Cep57 A T 9: 13,732,850 (GRCm39) F32I probably benign Het
Cep85 A G 4: 133,894,711 (GRCm39) W32R probably damaging Het
Cntrl T C 2: 35,059,329 (GRCm39) probably null Het
Cpd A G 11: 76,675,224 (GRCm39) V1299A probably damaging Het
Cpne6 T C 14: 55,752,092 (GRCm39) V283A probably benign Het
Crot A G 5: 9,016,941 (GRCm39) C584R probably damaging Het
Ctsc A C 7: 87,930,670 (GRCm39) H83P possibly damaging Het
Dido1 T C 2: 180,302,513 (GRCm39) N1797S probably benign Het
Dlgap4 C T 2: 156,602,821 (GRCm39) Q148* probably null Het
Dnah3 T C 7: 119,670,181 (GRCm39) D688G probably benign Het
Dnmt1 T C 9: 20,843,472 (GRCm39) E138G probably benign Het
Edc4 T A 8: 106,619,460 (GRCm39) M1396K probably damaging Het
Haao T A 17: 84,146,267 (GRCm39) Q69L probably benign Het
Hsd3b6 A T 3: 98,715,255 (GRCm39) probably null Het
Itpr3 T A 17: 27,333,199 (GRCm39) I1937N probably benign Het
Kcnk15 C A 2: 163,700,127 (GRCm39) T103K probably damaging Het
Kifc3 A G 8: 95,864,541 (GRCm39) probably null Het
Lama3 T A 18: 12,615,102 (GRCm39) F1342Y probably benign Het
Lilra6 A T 7: 3,915,718 (GRCm39) M98K probably damaging Het
Map3k21 T C 8: 126,668,417 (GRCm39) S668P probably benign Het
Mcpt8 T C 14: 56,319,791 (GRCm39) T220A probably benign Het
Mettl13 C T 1: 162,364,736 (GRCm39) V548I possibly damaging Het
Mfsd4b4 A G 10: 39,767,860 (GRCm39) M411T probably benign Het
Mrfap1 A G 5: 36,953,817 (GRCm39) S41P possibly damaging Het
Mroh2b A G 15: 4,978,137 (GRCm39) I1302V probably benign Het
Mrpl45 C T 11: 97,214,681 (GRCm39) R123* probably null Het
Mstn T A 1: 53,101,157 (GRCm39) I78K probably damaging Het
Mtdh T C 15: 34,114,191 (GRCm39) S168P possibly damaging Het
Muc15 G T 2: 110,561,905 (GRCm39) V114F probably damaging Het
Muc6 T C 7: 141,238,144 (GRCm39) E112G probably benign Het
Myocd G T 11: 65,078,330 (GRCm39) H360Q probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Nav3 T C 10: 109,563,802 (GRCm39) E1627G probably damaging Het
Nlrp14 T C 7: 106,781,910 (GRCm39) L369P probably benign Het
Nlrp6 A G 7: 140,503,408 (GRCm39) T505A probably damaging Het
Npbwr1 T C 1: 5,986,900 (GRCm39) S205G probably damaging Het
Nsmaf G A 4: 6,423,448 (GRCm39) R307* probably null Het
Or5h19 A T 16: 58,856,920 (GRCm39) L60Q probably damaging Het
Or9i1b T C 19: 13,897,208 (GRCm39) S275P probably damaging Het
Parp9 T G 16: 35,774,050 (GRCm39) S341A possibly damaging Het
Pdss2 A G 10: 43,289,533 (GRCm39) N346S probably benign Het
Pikfyve T A 1: 65,263,360 (GRCm39) F503Y probably damaging Het
Polr1e G T 4: 45,028,026 (GRCm39) A290S probably damaging Het
Ppp1r21 A T 17: 88,866,033 (GRCm39) H305L probably damaging Het
Prss47 A G 13: 65,197,103 (GRCm39) L117P probably damaging Het
Psmb2 A G 4: 126,580,825 (GRCm39) Y73C probably damaging Het
Rcn2 C T 9: 55,963,537 (GRCm39) P222L probably benign Het
Rnf144b T C 13: 47,396,361 (GRCm39) Y233H probably damaging Het
Rnf17 T C 14: 56,665,436 (GRCm39) L196P probably damaging Het
Sik2 A G 9: 50,920,111 (GRCm39) I22T probably damaging Het
Sis A G 3: 72,796,360 (GRCm39) V1807A probably benign Het
Slc1a2 T A 2: 102,568,254 (GRCm39) I88N probably damaging Het
Slc22a22 A G 15: 57,110,916 (GRCm39) F437S probably benign Het
Slc39a13 A T 2: 90,899,050 (GRCm39) C20* probably null Het
Sos2 C T 12: 69,632,090 (GRCm39) probably null Het
Sst A G 16: 23,709,448 (GRCm39) V16A probably benign Het
Stab1 C T 14: 30,863,543 (GRCm39) G2073D probably benign Het
Stxbp1 A T 2: 32,684,648 (GRCm39) S594T probably benign Het
Sugct A T 13: 17,627,131 (GRCm39) C241S probably benign Het
Svil T A 18: 5,048,950 (GRCm39) C76S probably benign Het
Tcaf1 A G 6: 42,663,382 (GRCm39) V166A possibly damaging Het
Tmem131 A T 1: 36,855,322 (GRCm39) N801K possibly damaging Het
Tox3 T C 8: 90,980,973 (GRCm39) N277S probably damaging Het
Tril G T 6: 53,795,012 (GRCm39) R737S probably damaging Het
Trpm2 C A 10: 77,801,841 (GRCm39) V75L probably damaging Het
Tshz1 A C 18: 84,031,930 (GRCm39) L826R possibly damaging Het
Ttn C T 2: 76,597,196 (GRCm39) V19906I probably damaging Het
Wnt5a C T 14: 28,240,461 (GRCm39) R184* probably null Het
Wnt5b G A 6: 119,410,442 (GRCm39) R333C probably damaging Het
Zbtb6 T C 2: 37,319,356 (GRCm39) T191A probably benign Het
Zc3h4 A G 7: 16,168,695 (GRCm39) N935D unknown Het
Zc3h7a C T 16: 10,978,890 (GRCm39) R95H probably damaging Het
Zfp110 T C 7: 12,582,468 (GRCm39) V372A possibly damaging Het
Zmym2 C T 14: 57,148,640 (GRCm39) S318L probably benign Het
Other mutations in Ak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Ak1 APN 2 32,523,507 (GRCm39) unclassified probably benign
R1476:Ak1 UTSW 2 32,523,478 (GRCm39) missense probably benign
R1876:Ak1 UTSW 2 32,520,282 (GRCm39) missense probably damaging 0.99
R2004:Ak1 UTSW 2 32,519,622 (GRCm39) missense probably benign
R4067:Ak1 UTSW 2 32,519,593 (GRCm39) missense probably benign 0.05
R4246:Ak1 UTSW 2 32,523,384 (GRCm39) missense possibly damaging 0.54
R4873:Ak1 UTSW 2 32,521,189 (GRCm39) missense probably benign 0.28
R4875:Ak1 UTSW 2 32,521,189 (GRCm39) missense probably benign 0.28
R5076:Ak1 UTSW 2 32,523,460 (GRCm39) missense probably damaging 1.00
R6187:Ak1 UTSW 2 32,523,489 (GRCm39) missense probably damaging 0.99
R6458:Ak1 UTSW 2 32,520,385 (GRCm39) missense probably damaging 1.00
R6818:Ak1 UTSW 2 32,520,385 (GRCm39) missense probably damaging 1.00
R6917:Ak1 UTSW 2 32,521,164 (GRCm39) missense possibly damaging 0.86
R6919:Ak1 UTSW 2 32,521,134 (GRCm39) missense possibly damaging 0.62
R8238:Ak1 UTSW 2 32,523,681 (GRCm39) missense probably damaging 1.00
R8803:Ak1 UTSW 2 32,523,490 (GRCm39) missense probably benign 0.28
R9135:Ak1 UTSW 2 32,521,182 (GRCm39) missense probably damaging 1.00
R9193:Ak1 UTSW 2 32,520,391 (GRCm39) missense probably benign 0.04
R9395:Ak1 UTSW 2 32,523,708 (GRCm39) missense probably damaging 1.00
Z1088:Ak1 UTSW 2 32,520,283 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCGTTCATTCTTCCCACAGAGAAGC -3'
(R):5'- AAGTAACTGAAGGGGCCACTCCAG -3'

Sequencing Primer
(F):5'- tttgttttgttgtgttgtttgtttg -3'
(R):5'- TGATAGCCGACAGCTTCTTG -3'
Posted On 2014-03-28