Incidental Mutation 'R7301:Agk'
ID 566971
Institutional Source Beutler Lab
Gene Symbol Agk
Ensembl Gene ENSMUSG00000029916
Gene Name acylglycerol kinase
Synonyms MuLK, 2610037M15Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.687) question?
Stock # R7301 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 40325172-40396762 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40329517 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 7 (T7S)
Ref Sequence ENSEMBL: ENSMUSP00000031977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031977] [ENSMUST00000200715]
AlphaFold Q9ESW4
Predicted Effect possibly damaging
Transcript: ENSMUST00000031977
AA Change: T7S

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031977
Gene: ENSMUSG00000029916
AA Change: T7S

DomainStartEndE-ValueType
DAGKc 62 193 1.9e-6 SMART
low complexity region 257 272 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200715
AA Change: T7S

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,777,085 S345N possibly damaging Het
Ankrd26 T C 6: 118,511,663 E1345G possibly damaging Het
Atp1a3 T A 7: 24,990,515 Y493F probably benign Het
Atxn2l G T 7: 126,494,211 Y791* probably null Het
Cacng8 C A 7: 3,415,421 T363K probably benign Het
Camkmt A G 17: 85,431,493 T216A probably benign Het
Cd2ap G A 17: 42,830,013 R212* probably null Het
Cnppd1 A G 1: 75,136,424 L400P probably damaging Het
Csmd2 C A 4: 128,528,262 D2797E Het
Ddx24 A G 12: 103,419,450 M298T possibly damaging Het
Dpyd T C 3: 118,899,284 V359A possibly damaging Het
Dscam T C 16: 97,056,532 T93A probably benign Het
Eif2b3 T A 4: 117,052,822 S185T probably benign Het
Entpd2 T A 2: 25,400,909 I475N possibly damaging Het
Ercc2 C A 7: 19,394,135 Q715K probably benign Het
Fam122a T A 19: 24,477,124 H78L probably benign Het
Fam122a T A 19: 24,477,346 E4V probably damaging Het
Fam186b T C 15: 99,278,748 R754G probably benign Het
Fcgbp T A 7: 28,093,436 V955E possibly damaging Het
Frrs1 T C 3: 116,895,563 V361A possibly damaging Het
Gabrr2 T A 4: 33,095,284 M391K probably benign Het
Gm12394 T C 4: 42,792,923 N403S possibly damaging Het
Gm3409 T A 5: 146,539,547 D169E probably benign Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 101,794,171 probably benign Het
Greb1l C G 18: 10,544,970 Q1433E probably damaging Het
Hal T C 10: 93,492,561 V233A probably benign Het
Ighv1-58 A T 12: 115,312,295 N74K probably benign Het
Il12rb1 A G 8: 70,813,699 I229M possibly damaging Het
Il17rd T C 14: 27,076,391 I56T possibly damaging Het
Itpr1 T C 6: 108,542,024 V2708A possibly damaging Het
Klhl38 G A 15: 58,322,980 R118W probably damaging Het
Lmf2 C A 15: 89,355,530 probably benign Het
Lrrc3b T C 14: 15,357,934 Y224C probably damaging Het
Med1 A C 11: 98,152,808 F599C probably benign Het
Mrgprb4 A G 7: 48,198,758 S141P probably damaging Het
Mst1r G T 9: 107,914,790 A842S possibly damaging Het
Myo3a T C 2: 22,544,466 probably null Het
Nos1 A T 5: 117,867,905 D230V possibly damaging Het
Nppb T C 4: 147,986,323 S52P probably benign Het
Nqo1 A G 8: 107,392,648 I99T probably damaging Het
Olfr346 T A 2: 36,688,011 M3K probably benign Het
Olfr769 T C 10: 129,111,699 H242R probably damaging Het
Pcdha3 G A 18: 36,946,924 E240K possibly damaging Het
Plpp7 T G 2: 32,096,055 F82V probably benign Het
Podxl G T 6: 31,524,436 P395T probably damaging Het
Prr5l T A 2: 101,717,286 D298V probably damaging Het
Rad9b A G 5: 122,352,614 V13A possibly damaging Het
Rasl2-9 A G 7: 5,125,740 W64R probably damaging Het
Rilp G T 11: 75,510,116 probably benign Het
Ripor2 T C 13: 24,725,001 I1034T possibly damaging Het
Rtn4ip1 T C 10: 43,936,020 Y338H probably damaging Het
Shisa5 G T 9: 109,054,884 probably benign Het
Slc27a4 C T 2: 29,812,932 T591I probably null Het
Snx24 G T 18: 53,340,172 V63F probably damaging Het
Sptbn1 A T 11: 30,117,798 Y1805* probably null Het
Svep1 G A 4: 58,046,587 Q3515* probably null Het
Synpo2 A C 3: 123,114,053 M538R probably benign Het
Tfap2a T C 13: 40,721,308 K276E probably damaging Het
Tmem158 C A 9: 123,260,301 S82I probably damaging Het
Tmtc3 G T 10: 100,447,474 H740N not run Het
Top3a A T 11: 60,748,148 F559I probably damaging Het
Tysnd1 C A 10: 61,696,549 P327T possibly damaging Het
Ulk4 T A 9: 121,145,059 D969V probably benign Het
Vcan T A 13: 89,705,266 Y525F probably benign Het
Vmn1r127 A G 7: 21,319,053 F270S probably benign Het
Vmn1r204 G A 13: 22,556,805 S202N probably damaging Het
Vmn2r107 A G 17: 20,345,616 I64M probably benign Het
Zfp280b C G 10: 76,038,703 Q139E probably damaging Het
Zfp322a C A 13: 23,357,143 G143V probably damaging Het
Zfp322a C T 13: 23,357,144 G143S probably benign Het
Zfyve26 A T 12: 79,282,984 V476D probably benign Het
Zkscan6 A T 11: 65,828,225 H357L probably benign Het
Other mutations in Agk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02019:Agk APN 6 40376226 missense probably damaging 0.98
IGL02254:Agk APN 6 40381246 missense probably damaging 1.00
IGL02309:Agk APN 6 40376276 missense possibly damaging 0.59
IGL03371:Agk APN 6 40394642 missense probably benign
R1145:Agk UTSW 6 40352438 splice site probably benign
R1470:Agk UTSW 6 40386817 missense probably damaging 1.00
R1470:Agk UTSW 6 40386817 missense probably damaging 1.00
R1806:Agk UTSW 6 40387495 missense probably damaging 0.99
R2011:Agk UTSW 6 40376234 missense probably benign 0.00
R3552:Agk UTSW 6 40394681 missense probably benign
R4853:Agk UTSW 6 40383819 critical splice donor site probably null
R6367:Agk UTSW 6 40386941 missense probably benign 0.01
R6591:Agk UTSW 6 40392690 missense probably benign 0.29
R6691:Agk UTSW 6 40392690 missense probably benign 0.29
R6753:Agk UTSW 6 40368570 splice site probably null
R7299:Agk UTSW 6 40329517 missense possibly damaging 0.93
R7757:Agk UTSW 6 40376278 missense possibly damaging 0.95
R8063:Agk UTSW 6 40329556 missense possibly damaging 0.95
R8773:Agk UTSW 6 40357116 missense possibly damaging 0.88
R8795:Agk UTSW 6 40386920 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TCAGAAGATGCTGATGGTGACTAG -3'
(R):5'- TGGCTTTGTTTGACCACCG -3'

Sequencing Primer
(F):5'- TGCTGATGGTGACTAGACAGG -3'
(R):5'- CCGCATTTTATAGAGAAGTGCAGCTG -3'
Posted On 2019-06-26