Incidental Mutation 'R6386:Ak6'
ID 515615
Institutional Source Beutler Lab
Gene Symbol Ak6
Ensembl Gene ENSMUSG00000078941
Gene Name adenylate kinase 6
Synonyms 2810046E22Rik, 4921516M08Rik
MMRRC Submission 044535-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R6386 (G1)
Quality Score 217.468
Status Not validated
Chromosome 13
Chromosomal Location 100787851-100802923 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) TGACGA to TGA at 100792311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022135] [ENSMUST00000022136] [ENSMUST00000084721] [ENSMUST00000167256] [ENSMUST00000177848] [ENSMUST00000185767] [ENSMUST00000190594] [ENSMUST00000190729] [ENSMUST00000226050] [ENSMUST00000190165] [ENSMUST00000187792]
AlphaFold Q8VCP8
Predicted Effect probably benign
Transcript: ENSMUST00000022135
SMART Domains Protein: ENSMUSP00000022135
Gene: ENSMUSG00000078941

DomainStartEndE-ValueType
Pfam:AAA_17 5 113 1.1e-13 PFAM
Pfam:AAA 6 45 3.6e-6 PFAM
Pfam:AAA_18 6 126 2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000022136
SMART Domains Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
AAA 128 280 1.1e-4 SMART
low complexity region 342 355 N/A INTRINSIC
low complexity region 552 567 N/A INTRINSIC
low complexity region 619 635 N/A INTRINSIC
low complexity region 669 687 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084721
SMART Domains Protein: ENSMUSP00000081772
Gene: ENSMUSG00000078941

DomainStartEndE-ValueType
Pfam:TFIID-31kDa 2 130 7.3e-65 PFAM
Pfam:Histone 12 78 2.7e-7 PFAM
Pfam:CENP-S 16 80 7.6e-10 PFAM
low complexity region 248 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167256
SMART Domains Protein: ENSMUSP00000132143
Gene: ENSMUSG00000052293

DomainStartEndE-ValueType
Pfam:TFIID-31kDa 9 129 1.4e-52 PFAM
low complexity region 248 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177848
SMART Domains Protein: ENSMUSP00000136292
Gene: ENSMUSG00000021635

DomainStartEndE-ValueType
low complexity region 30 39 N/A INTRINSIC
AAA 128 280 1.1e-4 SMART
low complexity region 342 355 N/A INTRINSIC
low complexity region 552 567 N/A INTRINSIC
low complexity region 619 635 N/A INTRINSIC
low complexity region 669 687 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185767
SMART Domains Protein: ENSMUSP00000140423
Gene: ENSMUSG00000052293

DomainStartEndE-ValueType
Pfam:TFIID-31kDa 2 130 2.2e-62 PFAM
Pfam:Bromo_TP 12 77 7.6e-5 PFAM
Pfam:CENP-S 15 80 5.7e-7 PFAM
Pfam:Histone 16 78 1e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190594
SMART Domains Protein: ENSMUSP00000140244
Gene: ENSMUSG00000052293

DomainStartEndE-ValueType
Pfam:TFIID-31kDa 2 130 7.3e-65 PFAM
Pfam:Histone 12 78 2.7e-7 PFAM
Pfam:CENP-S 16 80 7.6e-10 PFAM
low complexity region 248 262 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185901
Predicted Effect probably benign
Transcript: ENSMUST00000226050
Predicted Effect probably benign
Transcript: ENSMUST00000190165
SMART Domains Protein: ENSMUSP00000139407
Gene: ENSMUSG00000052293

DomainStartEndE-ValueType
Pfam:TFIID-31kDa 2 130 3.8e-62 PFAM
Pfam:CENP-S 15 80 7.9e-7 PFAM
Pfam:Histone 16 78 1.4e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190210
Predicted Effect probably benign
Transcript: ENSMUST00000187792
SMART Domains Protein: ENSMUSP00000140051
Gene: ENSMUSG00000052293

DomainStartEndE-ValueType
Pfam:TFIID-31kDa 2 130 3e-62 PFAM
Pfam:CENP-S 15 80 6.9e-7 PFAM
Pfam:Histone 16 78 1.3e-4 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5' exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 A T 5: 62,761,865 (GRCm39) N1620K possibly damaging Het
Atf6b T C 17: 34,870,825 (GRCm39) S396P probably damaging Het
Cc2d1a A G 8: 84,865,166 (GRCm39) M469T probably damaging Het
Ceacam3 A G 7: 16,892,144 (GRCm39) N296D probably benign Het
Cep57l1 A T 10: 41,619,128 (GRCm39) S80T probably damaging Het
Clip4 C A 17: 72,141,189 (GRCm39) Y514* probably null Het
Cop1 T C 1: 159,116,601 (GRCm39) I125T probably damaging Het
Cstf1 T C 2: 172,219,816 (GRCm39) V309A probably damaging Het
Cyp4a29 T G 4: 115,104,272 (GRCm39) probably null Het
F830045P16Rik G A 2: 129,314,738 (GRCm39) H180Y probably damaging Het
Foxp4 T C 17: 48,189,387 (GRCm39) K237E unknown Het
Fstl5 A T 3: 76,229,373 (GRCm39) H58L probably benign Het
Gje1 A G 10: 14,592,365 (GRCm39) F139S probably damaging Het
Gpatch1 T C 7: 34,991,265 (GRCm39) D593G probably damaging Het
Inpp5d T A 1: 87,627,397 (GRCm39) L566Q probably damaging Het
Mtch2 A G 2: 90,679,739 (GRCm39) T38A probably benign Het
Mvb12b A T 2: 33,717,754 (GRCm39) I129N probably damaging Het
Npffr2 T C 5: 89,730,556 (GRCm39) V162A probably benign Het
Or4d10b A T 19: 12,036,920 (GRCm39) N65K probably damaging Het
Or5p61 A T 7: 107,758,409 (GRCm39) Y224N probably damaging Het
Pkhd1 G A 1: 20,621,244 (GRCm39) R805C probably damaging Het
Ppp4r4 T C 12: 103,559,364 (GRCm39) L406P probably damaging Het
Prl3d2 A G 13: 27,311,286 (GRCm39) D186G probably damaging Het
Rfc5 T C 5: 117,523,463 (GRCm39) T112A probably benign Het
Rnf148 A G 6: 23,654,483 (GRCm39) L171P probably damaging Het
Rps24 G A 14: 24,542,116 (GRCm39) G71S possibly damaging Het
Slco2a1 G A 9: 102,954,187 (GRCm39) V453I probably benign Het
Spidr T C 16: 15,786,424 (GRCm39) K440E probably benign Het
Syndig1 C A 2: 149,741,496 (GRCm39) N27K probably damaging Het
Tmem62 C T 2: 120,829,595 (GRCm39) T316I probably benign Het
Tpgs2 A T 18: 25,272,081 (GRCm39) I258N possibly damaging Het
Vmn2r78 A T 7: 86,571,545 (GRCm39) R452* probably null Het
Wasf3 A T 5: 146,390,227 (GRCm39) I124F possibly damaging Het
Wbp11 T C 6: 136,797,523 (GRCm39) T299A probably benign Het
Wdr25 T C 12: 108,990,991 (GRCm39) S41P probably damaging Het
Zfp874b T C 13: 67,622,962 (GRCm39) D116G possibly damaging Het
Other mutations in Ak6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00592:Ak6 APN 13 100,800,599 (GRCm39) missense probably benign 0.05
PIT4151001:Ak6 UTSW 13 100,791,603 (GRCm39) missense probably damaging 0.98
R0189:Ak6 UTSW 13 100,791,650 (GRCm39) missense probably damaging 1.00
R1716:Ak6 UTSW 13 100,792,177 (GRCm39) missense probably benign
R1736:Ak6 UTSW 13 100,791,689 (GRCm39) splice site probably null
R4351:Ak6 UTSW 13 100,792,111 (GRCm39) nonsense probably null
R4625:Ak6 UTSW 13 100,792,181 (GRCm39) missense probably benign 0.00
R5690:Ak6 UTSW 13 100,792,129 (GRCm39) splice site probably null
R5711:Ak6 UTSW 13 100,790,722 (GRCm39) missense probably damaging 0.97
R5870:Ak6 UTSW 13 100,791,932 (GRCm39) missense probably damaging 1.00
R6018:Ak6 UTSW 13 100,802,459 (GRCm39) nonsense probably null
R7524:Ak6 UTSW 13 100,800,415 (GRCm39) missense probably benign
R8690:Ak6 UTSW 13 100,791,857 (GRCm39) missense possibly damaging 0.92
R9408:Ak6 UTSW 13 100,792,003 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTCTCAGTCCCCTGCTGTAAAAG -3'
(R):5'- TGTAAACCTTCAAGCTGGGG -3'

Sequencing Primer
(F):5'- CTGTAAAAGCTTCTATACCTGCAAC -3'
(R):5'- TGTGCATAAAGGTTGATGAAAAACC -3'
Posted On 2018-05-04