Incidental Mutation 'R4067:Ak1'
ID 316147
Institutional Source Beutler Lab
Gene Symbol Ak1
Ensembl Gene ENSMUSG00000026817
Gene Name adenylate kinase 1
Synonyms B430205N08Rik, Ak-1
MMRRC Submission 040853-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R4067 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 32511770-32525070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 32519593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 7 (S7N)
Ref Sequence ENSEMBL: ENSMUSP00000068479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068271] [ENSMUST00000113277] [ENSMUST00000113278] [ENSMUST00000156578] [ENSMUST00000195721]
AlphaFold Q9R0Y5
Predicted Effect probably benign
Transcript: ENSMUST00000068271
AA Change: S7N

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000068479
Gene: ENSMUSG00000026817
AA Change: S7N

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 benign
Transcript: ENSMUST00000113277
SMART Domains Protein: ENSMUSP00000108902
Gene: ENSMUSG00000026817

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 benign
Transcript: ENSMUST00000113278
SMART Domains Protein: ENSMUSP00000108903
Gene: ENSMUSG00000026817

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 benign
Transcript: ENSMUST00000156578
SMART Domains Protein: ENSMUSP00000123534
Gene: ENSMUSG00000026817

DomainStartEndE-ValueType
Pfam:AAA_17 10 86 1.5e-10 PFAM
Pfam:ADK 13 89 3.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195721
SMART Domains Protein: ENSMUSP00000142174
Gene: ENSMUSG00000026817

DomainStartEndE-ValueType
Pfam:ADK 13 96 2e-32 PFAM
Meta Mutation Damage Score 0.0790 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T A 1: 151,769,150 (GRCm39) T121S possibly damaging Het
4930503E14Rik T C 14: 44,406,641 (GRCm39) E136G probably damaging Het
Adgrg4 A G X: 56,005,320 (GRCm39) N2527S probably damaging Het
Aktip A C 8: 91,852,466 (GRCm39) I230R possibly damaging Het
Alms1 A G 6: 85,598,271 (GRCm39) I1032M probably damaging Het
Asb4 T A 6: 5,423,651 (GRCm39) V266E probably damaging Het
Bace1 G A 9: 45,765,962 (GRCm39) V130M probably damaging Het
Bglap A T 3: 88,291,744 (GRCm39) probably benign Het
Brpf3 T C 17: 29,040,233 (GRCm39) S885P probably benign Het
Chd9 A T 8: 91,750,202 (GRCm39) I1742F possibly damaging Het
Col9a2 T A 4: 120,909,586 (GRCm39) I415N probably damaging Het
Cybc1 A T 11: 121,115,528 (GRCm39) probably null Het
Dnajc7 T C 11: 100,492,607 (GRCm39) Y38C probably benign Het
Dync2i2 A G 2: 29,922,820 (GRCm39) L309P probably benign Het
Enam A G 5: 88,651,236 (GRCm39) Y840C probably damaging Het
Etnppl T A 3: 130,425,442 (GRCm39) C416S probably damaging Het
Fgf20 A T 8: 40,732,896 (GRCm39) S181T probably benign Het
Fut8 T A 12: 77,510,835 (GRCm39) Y421N probably damaging Het
Gcn1 T G 5: 115,737,147 (GRCm39) L1295R probably damaging Het
Gm11437 A G 11: 84,055,337 (GRCm39) V93A probably benign Het
Gm9989 T C 3: 81,829,549 (GRCm39) noncoding transcript Het
Gsdmc4 A T 15: 63,765,736 (GRCm39) probably null Het
Gvin3 T A 7: 106,198,772 (GRCm39) noncoding transcript Het
Ighv10-1 A T 12: 114,442,643 (GRCm39) M114K probably benign Het
Il22b T C 10: 118,126,115 (GRCm39) I161V probably damaging Het
Itfg2 T A 6: 128,387,413 (GRCm39) probably benign Het
Kirrel1 G A 3: 86,995,774 (GRCm39) Q387* probably null Het
Klk1 C T 7: 43,876,968 (GRCm39) R24* probably null Het
Klra7 T C 6: 130,208,612 (GRCm39) probably null Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mrps2 A G 2: 28,359,782 (GRCm39) N213S probably benign Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Ntrk3 T A 7: 78,167,185 (GRCm39) Y102F probably damaging Het
Or8k24 A T 2: 86,216,431 (GRCm39) C110* probably null Het
Otof C T 5: 30,556,635 (GRCm39) G282D probably damaging Het
Pcdhb2 A T 18: 37,430,367 (GRCm39) probably null Het
Pign A T 1: 105,515,703 (GRCm39) probably null Het
Plekha6 G A 1: 133,222,416 (GRCm39) E1001K probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Ppm1d A G 11: 85,236,678 (GRCm39) T486A probably benign Het
Pudp A G 18: 50,701,329 (GRCm39) F135L probably benign Het
Rd3l T G 12: 111,945,945 (GRCm39) N178T probably benign Het
Rel A C 11: 23,703,215 (GRCm39) probably null Het
Sf3a1 T A 11: 4,117,824 (GRCm39) F195L probably damaging Het
Slc30a1 G C 1: 191,639,401 (GRCm39) A95P probably damaging Het
Slc47a2 T C 11: 61,194,773 (GRCm39) T469A probably benign Het
Slc4a10 A T 2: 61,876,989 (GRCm39) M1L probably benign Het
Slc8a1 T A 17: 81,955,703 (GRCm39) D445V probably damaging Het
Slc9a7 C T X: 20,071,793 (GRCm39) G113R probably damaging Het
Spata31e5 T A 1: 28,816,712 (GRCm39) D440V probably damaging Het
Spic T C 10: 88,511,545 (GRCm39) H237R possibly damaging Het
Stk26 A G X: 49,977,910 (GRCm39) E317G probably benign Het
Tex10 A T 4: 48,459,355 (GRCm39) Y506* probably null Het
Trhde T A 10: 114,280,585 (GRCm39) R848* probably null Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Usp24 C T 4: 106,216,286 (GRCm39) T379M possibly damaging Het
Zfp783 A T 6: 47,922,499 (GRCm39) noncoding transcript Het
Other mutations in Ak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01407:Ak1 APN 2 32,523,507 (GRCm39) unclassified probably benign
R1472:Ak1 UTSW 2 32,520,313 (GRCm39) missense probably damaging 1.00
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
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'- AGAGTTCCATTTGCCCACAG -3'
(R):5'- ATCAGTCACTGGCTAGACAAG -3'

Sequencing Primer
(F):5'- AGCAGCCCTCCTCCCTG -3'
(R):5'- ACGTGTGACCCAGACTTGG -3'
Posted On 2015-05-15