Incidental Mutation 'IGL02309:Agk'
ID287728
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agk
Ensembl Gene ENSMUSG00000029916
Gene Nameacylglycerol kinase
SynonymsMuLK, 2610037M15Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.544) question?
Stock #IGL02309
Quality Score
Status
Chromosome6
Chromosomal Location40325172-40396762 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 40376276 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 191 (D191E)
Ref Sequence ENSEMBL: ENSMUSP00000031977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031977]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031977
AA Change: D191E

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031977
Gene: ENSMUSG00000029916
AA Change: D191E

DomainStartEndE-ValueType
DAGKc 62 193 1.9e-6 SMART
low complexity region 257 272 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201751
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A G 9: 44,281,828 F111S probably benign Het
Afg1l C A 10: 42,454,378 V98F possibly damaging Het
Akap5 A G 12: 76,328,855 K354E possibly damaging Het
Aplp2 A T 9: 31,167,683 M323K possibly damaging Het
Arhgap23 T C 11: 97,466,001 probably benign Het
Asl A G 5: 130,019,781 Y30H probably damaging Het
Asxl3 T A 18: 22,522,453 H1173Q probably benign Het
Celsr2 C T 3: 108,396,011 R2472H probably damaging Het
Clip1 T A 5: 123,617,700 H950L probably damaging Het
Cx3cl1 A T 8: 94,780,032 T222S probably benign Het
Cyp4a14 T A 4: 115,491,632 N273Y probably damaging Het
Ddx52 T A 11: 83,948,478 S214T probably damaging Het
Dennd2d T A 3: 106,494,968 M318K probably benign Het
Dock3 A T 9: 106,913,152 D1E probably damaging Het
Farp1 C T 14: 121,243,516 T443I probably benign Het
Gm2381 C T 7: 42,822,609 probably benign Het
Gpr87 T A 3: 59,179,554 I178F possibly damaging Het
Grin2b C T 6: 135,736,472 E804K probably damaging Het
Gtf2h1 T C 7: 46,816,388 L421P probably damaging Het
Haghl T G 17: 25,784,664 H56P probably damaging Het
Heatr3 T C 8: 88,167,072 L489P probably damaging Het
Ighv6-6 A T 12: 114,434,914 H77Q probably benign Het
Kdm2b A G 5: 122,947,820 S243P probably damaging Het
Lamc3 T C 2: 31,914,604 probably benign Het
Lgr4 T C 2: 110,012,535 probably benign Het
Lhx3 T C 2: 26,201,373 Q308R probably benign Het
Lonp2 G A 8: 86,634,863 E223K probably damaging Het
Lta4h T C 10: 93,474,490 F407L probably damaging Het
Mndal C T 1: 173,874,455 G94R probably damaging Het
Nrxn3 A G 12: 89,976,407 N101S probably damaging Het
Olfr295 T C 7: 86,585,497 V74A possibly damaging Het
Olfr609 A T 7: 103,491,999 I293K probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Olfr912 A G 9: 38,581,433 N52S probably damaging Het
Olfr930 A G 9: 38,931,052 N294D probably damaging Het
Pknox1 T G 17: 31,590,709 F96V probably benign Het
Psg25 T G 7: 18,526,424 Q183P probably damaging Het
Ptgs2 A G 1: 150,105,556 Y530C probably damaging Het
Sema3e T A 5: 14,224,390 D218E probably damaging Het
Shank1 G A 7: 44,312,842 G46R unknown Het
Sidt1 T C 16: 44,254,980 I672V probably benign Het
Slco1b2 T A 6: 141,672,281 S486T probably damaging Het
Smchd1 T C 17: 71,443,903 H340R probably benign Het
Smoc2 C A 17: 14,375,527 probably benign Het
Snapc1 A G 12: 73,968,027 Y102C probably damaging Het
Spo11 A G 2: 172,979,951 R20G probably damaging Het
Tlr1 A T 5: 64,925,947 L429* probably null Het
Tmem229b-ps T C 10: 53,475,370 noncoding transcript Het
Trim12c T A 7: 104,344,956 E230D possibly damaging Het
Ttc17 G T 2: 94,342,661 N796K probably benign Het
Ttc37 A G 13: 76,127,047 T238A possibly damaging Het
Ttn A G 2: 76,879,099 probably benign Het
Ublcp1 A T 11: 44,458,328 probably benign Het
Usf3 C T 16: 44,200,663 T11M probably benign Het
Vmn2r115 T A 17: 23,345,139 M95K probably benign Het
Wapl A G 14: 34,744,863 T1160A probably damaging 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
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
R7301:Agk UTSW 6 40329517 missense possibly damaging 0.93
Posted On2015-04-16