Incidental Mutation 'R6919:Ak1'
ID 539475
Institutional Source Beutler Lab
Gene Symbol Ak1
Ensembl Gene ENSMUSG00000026817
Gene Name adenylate kinase 1
Synonyms B430205N08Rik, Ak-1
MMRRC Submission 045039-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.236) question?
Stock # R6919 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32511770-32525070 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32521134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 101 (D101V)
Ref Sequence ENSEMBL: ENSMUSP00000068479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068271] [ENSMUST00000113277] [ENSMUST00000113278] [ENSMUST00000156578] [ENSMUST00000195721]
AlphaFold Q9R0Y5
Predicted Effect possibly damaging
Transcript: ENSMUST00000068271
AA Change: D101V

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068479
Gene: ENSMUSG00000026817
AA Change: D101V

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
AA Change: D85V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108902
Gene: ENSMUSG00000026817
AA Change: D85V

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
AA Change: D85V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108903
Gene: ENSMUSG00000026817
AA Change: D85V

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: ENSMUST00000156578
AA Change: D85V

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000123534
Gene: ENSMUSG00000026817
AA Change: D85V

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
AA Change: D80V

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000142174
Gene: ENSMUSG00000026817
AA Change: D80V

DomainStartEndE-ValueType
Pfam:ADK 13 96 2e-32 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (84/85)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,356 (GRCm39) probably benign Het
6430548M08Rik T C 8: 120,872,221 (GRCm39) S50P probably damaging Het
Aacs A G 5: 125,583,227 (GRCm39) D261G probably benign Het
Abcc4 T A 14: 118,832,306 (GRCm39) T775S probably benign Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Agbl5 T A 5: 31,062,061 (GRCm39) F196I probably benign Het
Ahnak2 T C 12: 112,741,118 (GRCm39) T985A possibly damaging Het
Alx1 A G 10: 102,861,061 (GRCm39) Y156H probably damaging Het
Angptl7 T A 4: 148,584,488 (GRCm39) S87C probably benign Het
Ankrd36 A G 11: 5,579,299 (GRCm39) T188A probably benign Het
Arhgap11a A C 2: 113,670,054 (GRCm39) S356R possibly damaging Het
Ascc3 G T 10: 50,521,849 (GRCm39) E455* probably null Het
Atp6v0a2 G A 5: 124,789,225 (GRCm39) probably null Het
B3gnt7 T C 1: 86,233,416 (GRCm39) W104R probably damaging Het
Bbs9 G A 9: 22,723,840 (GRCm39) probably null Het
Cc2d2a T A 5: 43,860,557 (GRCm39) D544E probably benign Het
Cic C T 7: 24,971,202 (GRCm39) T311I probably benign Het
Cngb1 T A 8: 95,975,003 (GRCm39) R1157W probably null Het
Cntln A G 4: 85,033,605 (GRCm39) H1310R probably benign Het
Cntnap5c A T 17: 58,600,948 (GRCm39) I764F probably benign Het
Col26a1 T C 5: 136,773,088 (GRCm39) Q362R possibly damaging Het
Cyp2c29 G A 19: 39,279,585 (GRCm39) R100K probably benign Het
D17H6S53E C G 17: 35,346,222 (GRCm39) D44E probably damaging Het
Dap3 A G 3: 88,838,296 (GRCm39) V65A probably damaging Het
Dna2 A T 10: 62,792,782 (GRCm39) I266F probably damaging Het
Dnah14 G A 1: 181,412,631 (GRCm39) G57E probably benign Het
Dock9 A T 14: 121,880,564 (GRCm39) V333E probably benign Het
Dpm1 A G 2: 168,072,195 (GRCm39) Y27H probably damaging Het
Dsp A T 13: 38,351,631 (GRCm39) Y150F possibly damaging Het
Emilin3 A T 2: 160,750,018 (GRCm39) I577N probably damaging Het
Erap1 A G 13: 74,819,552 (GRCm39) T189A probably benign Het
Fat2 A G 11: 55,173,597 (GRCm39) I2372T possibly damaging Het
Fbn2 A T 18: 58,257,259 (GRCm39) probably null Het
Gnl1 A T 17: 36,298,425 (GRCm39) R390* probably null Het
Hivep1 A G 13: 42,336,928 (GRCm39) I2336V probably benign Het
Il17rb C G 14: 29,726,228 (GRCm39) probably null Het
Itga9 T C 9: 118,716,883 (GRCm39) W396R probably damaging Het
Katnal2 A G 18: 77,098,734 (GRCm39) V152A probably benign Het
Kcnk3 A G 5: 30,779,744 (GRCm39) T265A probably benign Het
Klhl1 T C 14: 96,374,030 (GRCm39) Y672C probably benign Het
Leng8 C A 7: 4,146,625 (GRCm39) N412K possibly damaging Het
Lrrc9 T A 12: 72,553,167 (GRCm39) F1356L probably benign Het
Map7 A G 10: 20,046,828 (GRCm39) probably benign Het
Mei1 T C 15: 81,966,131 (GRCm39) F251S probably damaging Het
Mia2 A G 12: 59,176,681 (GRCm39) E9G possibly damaging Het
Ms4a13 C A 19: 11,149,249 (GRCm39) W182C probably benign Het
Muc16 C T 9: 18,571,595 (GRCm39) R308K unknown Het
Or4c103 G A 2: 88,514,028 (GRCm39) T16I possibly damaging Het
Or8g22 A G 9: 38,958,827 (GRCm39) probably benign Het
Pcnt A G 10: 76,221,632 (GRCm39) V1998A probably benign Het
Pgm2 A T 5: 64,254,368 (GRCm39) N51I probably benign Het
Piezo1 T A 8: 123,217,020 (GRCm39) H1333L probably damaging Het
Prg2 G A 2: 84,813,600 (GRCm39) V199M probably damaging Het
Prss51 T C 14: 64,334,937 (GRCm39) V182A probably damaging Het
Psmb9 A T 17: 34,402,199 (GRCm39) Y132* probably null Het
Ralyl T C 3: 13,842,091 (GRCm39) Y76H probably damaging Het
Rnaset2a A T 17: 8,349,114 (GRCm39) D174E probably benign Het
Rnft1 G A 11: 86,386,156 (GRCm39) probably null Het
Robo2 T C 16: 73,758,755 (GRCm39) Y676C probably damaging Het
Samd9l T G 6: 3,376,313 (GRCm39) Y316S possibly damaging Het
Siah3 T A 14: 75,693,578 (GRCm39) F28Y possibly damaging Het
Slc28a3 C T 13: 58,721,257 (GRCm39) probably null Het
Slc8a1 A G 17: 81,696,301 (GRCm39) F911S probably damaging Het
Spata31e2 T C 1: 26,722,015 (GRCm39) Y1055C probably benign Het
Speg T A 1: 75,364,552 (GRCm39) L156* probably null Het
Spopl T G 2: 23,407,873 (GRCm39) M269L probably benign Het
Tacr1 C T 6: 82,534,054 (GRCm39) T360I probably benign Het
Tasor T A 14: 27,171,758 (GRCm39) L397* probably null Het
Tmem262 A G 19: 6,130,767 (GRCm39) E95G probably benign Het
Tmem68 G T 4: 3,569,669 (GRCm39) T7N possibly damaging Het
Top3a T A 11: 60,640,319 (GRCm39) I460F probably damaging Het
Trafd1 G A 5: 121,522,137 (GRCm39) R5* probably null Het
Trim16 T A 11: 62,731,695 (GRCm39) V435D possibly damaging Het
Tspan17 A G 13: 54,943,846 (GRCm39) D236G probably damaging Het
Tssk2 A T 16: 17,717,565 (GRCm39) M323L probably benign Het
Ubqln5 A G 7: 103,778,215 (GRCm39) V203A probably benign Het
Utrn A T 10: 12,569,214 (GRCm39) L1134* probably null Het
Vmn1r37 C T 6: 66,708,704 (GRCm39) S73F possibly damaging Het
Vps13c A G 9: 67,834,734 (GRCm39) K1688E probably damaging Het
Zbtb39 A G 10: 127,577,711 (GRCm39) D95G probably damaging Het
Zfhx3 T A 8: 109,527,160 (GRCm39) I1019N probably damaging Het
Zfp207 C T 11: 80,286,329 (GRCm39) probably benign Het
Zmiz1 C T 14: 25,644,062 (GRCm39) T169M probably damaging 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
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
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'- TTTGCTGAAGCCCAAGCCTG -3'
(R):5'- TACATGTGGGGTGACAAGCC -3'

Sequencing Primer
(F):5'- CTGAAGCCCAAGCCTGGAGAG -3'
(R):5'- GGATAAAGTCTCTCAAATCCTCCTC -3'
Posted On 2018-11-06