Incidental Mutation 'R6936:Ak4'
ID 540285
Institutional Source Beutler Lab
Gene Symbol Ak4
Ensembl Gene ENSMUSG00000028527
Gene Name adenylate kinase 4
Synonyms D4Ertd274e, Ak-4, Ak3l1, Ak-3
MMRRC Submission 045050-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R6936 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 101276474-101324192 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101304456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 82 (A82V)
Ref Sequence ENSEMBL: ENSMUSP00000115456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102780] [ENSMUST00000106945] [ENSMUST00000106946] [ENSMUST00000131397] [ENSMUST00000133055]
AlphaFold Q9WUR9
Predicted Effect probably benign
Transcript: ENSMUST00000102780
AA Change: A82V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099841
Gene: ENSMUSG00000028527
AA Change: A82V

DomainStartEndE-ValueType
Pfam:AAA_17 7 193 3.2e-12 PFAM
Pfam:AAA_18 9 133 8.7e-11 PFAM
Pfam:ADK 10 190 2e-50 PFAM
Pfam:ADK_lid 126 161 3.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106945
AA Change: A82V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102558
Gene: ENSMUSG00000028527
AA Change: A82V

DomainStartEndE-ValueType
Pfam:AAA_17 7 193 3.2e-12 PFAM
Pfam:AAA_18 9 133 8.7e-11 PFAM
Pfam:ADK 10 190 2e-50 PFAM
Pfam:ADK_lid 126 161 3.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106946
AA Change: A82V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102559
Gene: ENSMUSG00000028527
AA Change: A82V

DomainStartEndE-ValueType
Pfam:AAA_17 7 179 1.1e-7 PFAM
Pfam:Cytidylate_kin 8 55 3.5e-7 PFAM
Pfam:AAA_18 9 134 4.5e-11 PFAM
Pfam:ADK 10 190 1.8e-50 PFAM
Pfam:ADK_lid 126 161 1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131397
AA Change: A82V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000115456
Gene: ENSMUSG00000028527
AA Change: A82V

DomainStartEndE-ValueType
Pfam:AAA_17 7 115 1.1e-11 PFAM
Pfam:AAA_18 9 115 3.6e-8 PFAM
Pfam:ADK 10 115 1.7e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133055
SMART Domains Protein: ENSMUSP00000115454
Gene: ENSMUSG00000028527

DomainStartEndE-ValueType
Pfam:AAA_17 7 111 2.2e-10 PFAM
Pfam:ADK 10 48 2.9e-16 PFAM
Pfam:ADK 47 122 5.8e-9 PFAM
Pfam:ADK_lid 86 121 1.1e-18 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000121112
Gene: ENSMUSG00000028527
AA Change: A12V

DomainStartEndE-ValueType
Pfam:ADK 1 108 2.1e-20 PFAM
Pfam:ADK_lid 57 82 9.3e-6 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.7%
Validation Efficiency 98% (48/49)
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 of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,248,568 (GRCm39) I2772F probably damaging Het
Adam1a A G 5: 121,657,425 (GRCm39) C623R probably damaging Het
Ak2 T C 4: 128,893,005 (GRCm39) S55P probably damaging Het
Arhgap10 A T 8: 78,037,376 (GRCm39) C617* probably null Het
Art1 A T 7: 101,755,977 (GRCm39) D56V possibly damaging Het
Ascc3 A G 10: 50,606,057 (GRCm39) D1392G probably damaging Het
Bbs5 T C 2: 69,484,698 (GRCm39) S123P probably damaging Het
Cabin1 A T 10: 75,551,592 (GRCm39) probably null Het
Carmil3 G A 14: 55,739,018 (GRCm39) E891K probably benign Het
Cbfa2t3 C G 8: 123,374,478 (GRCm39) R89P probably damaging Het
Ccdc157 A G 11: 4,094,030 (GRCm39) S534P probably benign Het
Cep72 A T 13: 74,188,206 (GRCm39) I229N probably damaging Het
Cnn3 C T 3: 121,243,702 (GRCm39) probably benign Het
Cyp2c70 A G 19: 40,156,007 (GRCm39) V181A probably damaging Het
Cyp2d26 C T 15: 82,676,741 (GRCm39) D202N probably benign Het
Dbh A G 2: 27,062,809 (GRCm39) K343E probably benign Het
Dlx5 A G 6: 6,879,585 (GRCm39) Y161H probably damaging Het
Dnah5 A T 15: 28,409,414 (GRCm39) I3611F probably damaging Het
Egf A C 3: 129,474,853 (GRCm39) F563V possibly damaging Het
Enpp1 T C 10: 24,527,237 (GRCm39) H650R probably benign Het
Exoc6 A G 19: 37,560,311 (GRCm39) I109M probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fgg C T 3: 82,915,727 (GRCm39) S56F possibly damaging Het
Fras1 A G 5: 96,916,211 (GRCm39) D3415G possibly damaging Het
Ghsr A G 3: 27,426,474 (GRCm39) I177V probably benign Het
Gm1979 A T 5: 26,207,028 (GRCm39) H62Q probably benign Het
Gpatch2 A G 1: 186,965,433 (GRCm39) D313G probably benign Het
Gtf2i C T 5: 134,271,639 (GRCm39) E823K probably damaging Het
Hook2 C A 8: 85,729,627 (GRCm39) T689N probably benign Het
Hrnr A T 3: 93,239,667 (GRCm39) N3302Y unknown Het
Igkv7-33 G A 6: 70,035,785 (GRCm39) P66S possibly damaging Het
Kcnh2 T A 5: 24,529,337 (GRCm39) I800F probably damaging Het
Mcmbp G A 7: 128,326,920 (GRCm39) Q21* probably null Het
Mmp21 T C 7: 133,280,704 (GRCm39) K89E probably benign Het
Or4b13 A G 2: 90,082,678 (GRCm39) V218A probably benign Het
Or52r1c A T 7: 102,735,021 (GRCm39) I94F probably damaging Het
Pcdhga4 A G 18: 37,820,458 (GRCm39) D669G possibly damaging Het
Ralgapa1 T C 12: 55,832,997 (GRCm39) T169A probably damaging Het
Sec31a T C 5: 100,540,369 (GRCm39) N35S probably benign Het
Serpinb5 A T 1: 106,798,148 (GRCm39) T46S probably benign Het
Svs5 A G 2: 164,079,548 (GRCm39) S120P possibly damaging Het
Tbpl2 T C 2: 23,984,953 (GRCm39) T64A probably benign Het
Tecpr2 T A 12: 110,911,297 (GRCm39) H1111Q possibly damaging Het
Tm9sf3 A G 19: 41,211,638 (GRCm39) F402L probably benign Het
Tmem120b T G 5: 123,254,287 (GRCm39) V287G possibly damaging Het
Tmem150c T C 5: 100,231,577 (GRCm39) T133A possibly damaging Het
Ubqln3 A T 7: 103,791,517 (GRCm39) V191D probably damaging Het
Ubr2 T C 17: 47,283,957 (GRCm39) E564G possibly damaging Het
Zkscan1 T C 5: 138,091,567 (GRCm39) V100A probably damaging Het
Other mutations in Ak4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Ak4 APN 4 101,304,386 (GRCm39) nonsense probably null
IGL03077:Ak4 APN 4 101,277,148 (GRCm39) missense probably damaging 0.98
R1903:Ak4 UTSW 4 101,320,833 (GRCm39) missense possibly damaging 0.47
R5423:Ak4 UTSW 4 101,317,760 (GRCm39) missense probably damaging 1.00
R6309:Ak4 UTSW 4 101,320,859 (GRCm39) missense probably benign
R7571:Ak4 UTSW 4 101,317,739 (GRCm39) missense probably benign 0.32
R8057:Ak4 UTSW 4 101,317,850 (GRCm39) missense probably damaging 1.00
R8314:Ak4 UTSW 4 101,320,782 (GRCm39) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- TGAACCAGAAGGCTAAACTGC -3'
(R):5'- CAAAGCTTTCACAGTAAGGGTCAG -3'

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