Incidental Mutation 'R8314:Ak4'
ID 641554
Institutional Source Beutler Lab
Gene Symbol Ak4
Ensembl Gene ENSMUSG00000028527
Gene Name adenylate kinase 4
Synonyms D4Ertd274e, Ak-4, Ak3l1, Ak-3
MMRRC Submission 067719-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.488) question?
Stock # R8314 (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 101320782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 197 (T197M)
Ref Sequence ENSEMBL: ENSMUSP00000102558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102780] [ENSMUST00000106945] [ENSMUST00000106946] [ENSMUST00000131397] [ENSMUST00000133055]
AlphaFold Q9WUR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000102780
AA Change: T197M

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099841
Gene: ENSMUSG00000028527
AA Change: T197M

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: T197M

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102558
Gene: ENSMUSG00000028527
AA Change: T197M

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: T197M

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000102559
Gene: ENSMUSG00000028527
AA Change: T197M

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
SMART Domains Protein: ENSMUSP00000115456
Gene: ENSMUSG00000028527

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: T114M

DomainStartEndE-ValueType
Pfam:ADK 1 108 2.1e-20 PFAM
Pfam:ADK_lid 57 82 9.3e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (67/67)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T A 9: 122,777,993 (GRCm39) T84S probably benign Het
4930533K18Rik A G 10: 70,711,106 (GRCm39) T76A noncoding transcript Het
Adgrl1 C T 8: 84,665,018 (GRCm39) T1235I probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Alox12e T C 11: 70,206,998 (GRCm39) M603V possibly damaging Het
Ap3d1 A T 10: 80,559,373 (GRCm39) I267N possibly damaging Het
Arhgef2 T A 3: 88,528,600 (GRCm39) I12N probably benign Het
Asnsd1 A T 1: 53,385,814 (GRCm39) M520K probably damaging Het
B3galt5 T C 16: 96,116,649 (GRCm39) L94P probably damaging Het
Birc2 T C 9: 7,872,942 (GRCm39) probably benign Het
Cd177 T C 7: 24,450,013 (GRCm39) S541G probably benign Het
Cdh8 T C 8: 99,898,011 (GRCm39) D434G probably damaging Het
Cdkn3 A T 14: 47,007,330 (GRCm39) silent Het
Ciita A T 16: 10,328,852 (GRCm39) R379W probably damaging Het
Cntrl T A 2: 35,065,155 (GRCm39) M2153K probably benign Het
Csmd1 A T 8: 16,208,258 (GRCm39) D1232E probably benign Het
Cyp4a30b A C 4: 115,315,535 (GRCm39) H252P probably benign Het
Dad1 G A 14: 54,491,269 (GRCm39) R11W probably damaging Het
Ddit3 A G 10: 127,131,590 (GRCm39) probably null Het
Dusp22 G A 13: 30,892,914 (GRCm39) probably benign Het
Dzank1 A G 2: 144,344,878 (GRCm39) L293P probably damaging Het
Edf1 A G 2: 25,447,977 (GRCm39) D5G probably damaging Het
Entrep3 T C 3: 89,095,453 (GRCm39) probably null Het
Ep400 T A 5: 110,903,619 (GRCm39) M327L unknown Het
Fam135a A T 1: 24,061,002 (GRCm39) H1341Q possibly damaging Het
Fbxl3 C T 14: 103,326,876 (GRCm39) V169I probably benign Het
Gm4787 A G 12: 81,425,909 (GRCm39) L83P probably damaging Het
Habp4 A G 13: 64,332,565 (GRCm39) E392G probably damaging Het
Hspg2 C A 4: 137,266,986 (GRCm39) P1997Q probably benign Het
Ints9 T C 14: 65,266,479 (GRCm39) S444P probably damaging Het
Kif18b G A 11: 102,803,900 (GRCm39) S420L probably benign Het
Klhl17 T A 4: 156,318,470 (GRCm39) M51L probably benign Het
Kmt2b C T 7: 30,278,347 (GRCm39) E1555K probably damaging Het
Malrd1 T A 2: 15,757,643 (GRCm39) D972E unknown Het
Mapk8ip3 A T 17: 25,120,748 (GRCm39) S805R probably benign Het
Mmp13 G A 9: 7,272,931 (GRCm39) C97Y probably damaging Het
Moxd1 T A 10: 24,128,438 (GRCm39) N163K possibly damaging Het
Nbea T C 3: 55,916,672 (GRCm39) I863V probably damaging Het
Nectin4 A G 1: 171,212,295 (GRCm39) T298A probably benign Het
Net1 T C 13: 3,962,672 (GRCm39) probably benign Het
Ntn1 T C 11: 68,276,450 (GRCm39) D166G probably damaging Het
Opa3 C A 7: 18,978,940 (GRCm39) A135E possibly damaging Het
Or1e31 T G 11: 73,690,568 (GRCm39) N5T noncoding transcript Het
Or4c3d T C 2: 89,882,441 (GRCm39) T76A probably benign Het
Or51v14 T C 7: 103,261,254 (GRCm39) Q102R probably damaging Het
Or5w14 A G 2: 87,541,546 (GRCm39) F235L probably benign Het
Or8g30 A G 9: 39,230,601 (GRCm39) F103S probably damaging Het
Osbpl5 T C 7: 143,248,833 (GRCm39) I608V probably benign Het
Phc1 A C 6: 122,297,937 (GRCm39) S782R unknown Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pip5k1b T A 19: 24,332,563 (GRCm39) T374S probably benign Het
Prkaa1 A G 15: 5,208,354 (GRCm39) S541G probably damaging Het
Ptpn20 A G 14: 33,344,504 (GRCm39) N143D possibly damaging Het
Rabep1 A G 11: 70,784,486 (GRCm39) D207G possibly damaging Het
Rbbp8 G A 18: 11,853,682 (GRCm39) M296I probably benign Het
Recql4 C A 15: 76,594,380 (GRCm39) R46L probably damaging Het
Scgb2b18 T C 7: 32,872,582 (GRCm39) I74M probably benign Het
Shc4 A G 2: 125,497,536 (GRCm39) I391T possibly damaging Het
Slc38a4 A G 15: 96,908,190 (GRCm39) F184L probably benign Het
Slc7a6 A G 8: 106,895,590 (GRCm39) probably benign Het
Smim13 G T 13: 41,426,110 (GRCm39) G49* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Tnpo1 T C 13: 99,021,133 (GRCm39) N82S possibly damaging Het
Tpp2 G A 1: 43,973,387 (GRCm39) V47I probably benign Het
Umodl1 G T 17: 31,203,806 (GRCm39) A540S probably damaging Het
Vmn2r83 G A 10: 79,317,313 (GRCm39) V519I possibly damaging Het
Zfp641 T C 15: 98,188,464 (GRCm39) I139V probably damaging Het
Zfyve21 A T 12: 111,789,715 (GRCm39) I60F probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATCACAGCTCCAGACCCTTG -3'
(R):5'- TATCTCAGCTGGCTTCTAACTGGG -3'

Sequencing Primer
(F):5'- AGACCCTTGTTTTCCTATTTAATCGG -3'
(R):5'- TTCTAACTGGGCCAGGTCAC -3'
Posted On 2020-07-28