Incidental Mutation 'IGL03077:Ak4'
ID 417731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ak4
Ensembl Gene ENSMUSG00000028527
Gene Name adenylate kinase 4
Synonyms D4Ertd274e, Ak-4, Ak3l1, Ak-3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # IGL03077
Quality Score
Status
Chromosome 4
Chromosomal Location 101276474-101324192 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101277148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 44 (L44P)
Ref Sequence ENSEMBL: ENSMUSP00000115456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102780] [ENSMUST00000106945] [ENSMUST00000106946] [ENSMUST00000131397] [ENSMUST00000133055]
AlphaFold Q9WUR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000102780
AA Change: L44P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099841
Gene: ENSMUSG00000028527
AA Change: L44P

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 possibly damaging
Transcript: ENSMUST00000106945
AA Change: L44P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102558
Gene: ENSMUSG00000028527
AA Change: L44P

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 possibly damaging
Transcript: ENSMUST00000106946
AA Change: L44P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102559
Gene: ENSMUSG00000028527
AA Change: L44P

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 damaging
Transcript: ENSMUST00000131397
AA Change: L44P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115456
Gene: ENSMUSG00000028527
AA Change: L44P

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 possibly damaging
Transcript: ENSMUST00000133055
AA Change: L44P

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115454
Gene: ENSMUSG00000028527
AA Change: L44P

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 noncoding transcript
Transcript: ENSMUST00000151561
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,999,308 (GRCm39) N135D probably damaging Het
Angpt1 C A 15: 42,339,818 (GRCm39) G298* probably null Het
Appl2 C T 10: 83,457,623 (GRCm39) probably benign Het
Arhgap19 T A 19: 41,769,760 (GRCm39) H341L probably benign Het
Chmp5 T C 4: 40,952,438 (GRCm39) S98P probably benign Het
Chp1 A T 2: 119,415,081 (GRCm39) Q161L probably benign Het
Clgn T C 8: 84,150,769 (GRCm39) V478A probably benign Het
Cplane1 G A 15: 8,242,279 (GRCm39) probably benign Het
Cyp2b19 A T 7: 26,461,809 (GRCm39) M210L probably benign Het
Eif4g3 T A 4: 137,853,166 (GRCm39) V244D probably damaging Het
Ftcd T C 10: 76,417,461 (GRCm39) I300T probably damaging Het
Gm12886 C T 4: 121,272,697 (GRCm39) probably benign Het
Klrb1f A T 6: 129,030,765 (GRCm39) E92V probably null Het
Krt23 A G 11: 99,374,700 (GRCm39) probably benign Het
Mib2 T G 4: 155,743,900 (GRCm39) R47S probably benign Het
Mindy4 A G 6: 55,286,315 (GRCm39) T728A probably damaging Het
Myh15 A G 16: 48,916,901 (GRCm39) N407S probably benign Het
Nlrp4f A G 13: 65,342,412 (GRCm39) V411A probably benign Het
Or10ag56 T C 2: 87,140,056 (GRCm39) *328Q probably null Het
Or4c12b A C 2: 89,647,486 (GRCm39) D266A probably damaging Het
Otud4 T G 8: 80,400,087 (GRCm39) S934A probably damaging Het
P3h1 C T 4: 119,093,983 (GRCm39) R213W probably damaging Het
Phrf1 A T 7: 140,834,881 (GRCm39) K19* probably null Het
Prl3b1 A T 13: 27,429,759 (GRCm39) M66L probably benign Het
Psmd7 T C 8: 108,309,099 (GRCm39) T149A probably benign Het
Samd4b T C 7: 28,105,868 (GRCm39) D450G probably damaging Het
Scn3a G A 2: 65,367,016 (GRCm39) A2V probably damaging Het
Snrpa G A 7: 26,891,186 (GRCm39) T95I probably benign Het
Traip A G 9: 107,840,125 (GRCm39) probably benign Het
Trbc1 T A 6: 41,515,383 (GRCm39) probably benign Het
Trim72 A T 7: 127,607,013 (GRCm39) M181L probably benign Het
Ttc41 T C 10: 86,594,212 (GRCm39) Y882H probably damaging Het
Vmn1r191 A C 13: 22,363,316 (GRCm39) I146S probably benign Het
Vmn2r9 G T 5: 108,996,173 (GRCm39) probably benign Het
Vps13a A G 19: 16,688,246 (GRCm39) S854P probably benign Het
Wdfy1 T C 1: 79,692,622 (GRCm39) K232E possibly damaging Het
Xpr1 A T 1: 155,156,774 (GRCm39) D625E possibly damaging Het
Zbbx T A 3: 74,989,153 (GRCm39) T317S possibly damaging Het
Other mutations in Ak4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Ak4 APN 4 101,304,386 (GRCm39) nonsense probably null
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
R6936:Ak4 UTSW 4 101,304,456 (GRCm39) missense probably benign 0.00
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
Posted On 2016-08-02