Incidental Mutation 'R0855:Ak3'
ID 82707
Institutional Source Beutler Lab
Gene Symbol Ak3
Ensembl Gene ENSMUSG00000024782
Gene Name adenylate kinase 3
Synonyms AK-3
MMRRC Submission 039034-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.292) question?
Stock # R0855 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 28998233-29025361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29000345 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 189 (K189E)
Ref Sequence ENSEMBL: ENSMUSP00000025696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025696] [ENSMUST00000050148] [ENSMUST00000224511]
AlphaFold Q9WTP7
Predicted Effect probably benign
Transcript: ENSMUST00000025696
AA Change: K189E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025696
Gene: ENSMUSG00000024782
AA Change: K189E

DomainStartEndE-ValueType
Pfam:AAA_17 9 172 2.4e-7 PFAM
Pfam:ADK 12 192 2.6e-52 PFAM
Pfam:ADK_lid 128 163 4.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050148
SMART Domains Protein: ENSMUSP00000060421
Gene: ENSMUSG00000024780

DomainStartEndE-ValueType
low complexity region 4 14 N/A INTRINSIC
low complexity region 21 40 N/A INTRINSIC
low complexity region 102 115 N/A INTRINSIC
CDC37_M 132 288 7.15e-80 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125587
SMART Domains Protein: ENSMUSP00000121867
Gene: ENSMUSG00000024782

DomainStartEndE-ValueType
Pfam:ADK_lid 5 40 2.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224511
Meta Mutation Damage Score 0.0588 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (35/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700046A07Rik A G 18: 62,886,414 (GRCm39) noncoding transcript Het
Anks3 A T 16: 4,773,811 (GRCm39) probably benign Het
Ash1l C A 3: 88,961,761 (GRCm39) H2378N possibly damaging Het
Baz1a A G 12: 54,947,348 (GRCm39) probably benign Het
Bicra A G 7: 15,705,929 (GRCm39) F1504S probably damaging Het
Blzf1 T C 1: 164,119,950 (GRCm39) T353A possibly damaging Het
Btn1a1 C A 13: 23,648,489 (GRCm39) V115F probably damaging Het
Cd38 T A 5: 44,060,927 (GRCm39) probably null Het
Cep250 T C 2: 155,806,031 (GRCm39) C109R probably damaging Het
Cnksr1 C T 4: 133,960,377 (GRCm39) probably benign Het
Dmxl2 T A 9: 54,273,724 (GRCm39) N3048I probably benign Het
Impdh1 T A 6: 29,206,971 (GRCm39) H116L probably damaging Het
Kank4 C A 4: 98,659,681 (GRCm39) W799L probably damaging Het
Kcnk7 C T 19: 5,756,103 (GRCm39) H110Y probably benign Het
Mak T C 13: 41,223,640 (GRCm39) E25G probably damaging Het
Mrpl54 G A 10: 81,102,759 (GRCm39) probably benign Het
Myh10 A C 11: 68,702,627 (GRCm39) D1767A possibly damaging Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Ndufaf6 A T 4: 11,051,169 (GRCm39) H310Q probably damaging Het
Osbpl6 G T 2: 76,415,477 (GRCm39) G467V probably damaging Het
Osbpl6 A G 2: 76,422,183 (GRCm39) E673G probably damaging Het
Picalm T A 7: 89,840,356 (GRCm39) D458E possibly damaging Het
Ppp2ca G A 11: 52,012,752 (GRCm39) R294H probably benign Het
Prdm14 T A 1: 13,195,761 (GRCm39) N100I probably benign Het
Rbbp6 A G 7: 122,591,471 (GRCm39) T510A probably benign Het
Sars1 C A 3: 108,334,248 (GRCm39) E503D probably benign Het
Smtn T C 11: 3,471,880 (GRCm39) D853G probably damaging Het
Tbx20 A G 9: 24,636,908 (GRCm39) M393T probably benign Het
Thada T C 17: 84,744,083 (GRCm39) T742A probably damaging Het
Tmem63a T C 1: 180,788,625 (GRCm39) S321P possibly damaging Het
Trim24 T A 6: 37,892,137 (GRCm39) C223* probably null Het
Usp48 T C 4: 137,335,465 (GRCm39) F213L probably damaging Het
Vmn2r109 A T 17: 20,761,670 (GRCm39) Y562* probably null Het
Other mutations in Ak3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03162:Ak3 APN 19 29,000,236 (GRCm39) missense possibly damaging 0.61
PIT4243001:Ak3 UTSW 19 29,015,271 (GRCm39) critical splice donor site probably null
PIT4469001:Ak3 UTSW 19 29,025,157 (GRCm39) missense probably damaging 0.97
R0277:Ak3 UTSW 19 29,025,192 (GRCm39) missense possibly damaging 0.80
R1747:Ak3 UTSW 19 29,000,261 (GRCm39) missense possibly damaging 0.87
R2141:Ak3 UTSW 19 29,000,247 (GRCm39) missense probably benign 0.00
R3979:Ak3 UTSW 19 29,025,118 (GRCm39) missense probably damaging 1.00
R4839:Ak3 UTSW 19 29,025,132 (GRCm39) missense probably damaging 0.99
R6207:Ak3 UTSW 19 29,000,340 (GRCm39) missense probably damaging 0.99
R6702:Ak3 UTSW 19 29,003,627 (GRCm39) missense probably damaging 1.00
R8897:Ak3 UTSW 19 29,025,118 (GRCm39) missense probably damaging 0.98
R8969:Ak3 UTSW 19 29,025,094 (GRCm39) missense probably benign
R9573:Ak3 UTSW 19 29,003,667 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCACCAGTTGCTCTCCGAGTTAG -3'
(R):5'- GCATTGTCCAGTCAAGTTTCTTGCC -3'

Sequencing Primer
(F):5'- CAGATCAGGCTAAGTATCTGACTC -3'
(R):5'- TTGCCCCTGGATCAGAGAC -3'
Posted On 2013-11-08