Incidental Mutation 'IGL02036:Dgat2l6'
ID184524
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgat2l6
Ensembl Gene ENSMUSG00000067597
Gene Namediacylglycerol O-acyltransferase 2-like 6
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02036
Quality Score
Status
ChromosomeX
Chromosomal Location100524838-100546144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 100545593 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 336 (I336N)
Ref Sequence ENSEMBL: ENSMUSP00000036845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037541]
Predicted Effect probably damaging
Transcript: ENSMUST00000037541
AA Change: I336N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000036845
Gene: ENSMUSG00000067597
AA Change: I336N

DomainStartEndE-ValueType
Pfam:DAGAT 38 337 4.9e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140551
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 is a member of the diacylglycerol acyltransferase 2 family. The encoded protein is a putative acyltransferase and is most likely involved in the synthesis of di- or triacylglycerol, however its substrate specificity is currently unknown. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,137,525 V290M possibly damaging Het
Cep290 T A 10: 100,558,100 C2056* probably null Het
Cyp2c38 T A 19: 39,460,316 D143V probably null Het
Ddx10 T C 9: 53,204,183 K617R probably benign Het
Dopey1 A G 9: 86,531,765 I1906M probably benign Het
Dpep3 T G 8: 105,973,785 T430P probably benign Het
Dph1 T C 11: 75,184,165 probably null Het
Epha7 T C 4: 28,950,509 S775P probably damaging Het
F5 A G 1: 164,183,002 probably benign Het
Hdx T A X: 111,659,867 T342S probably benign Het
Inpp4a T C 1: 37,377,569 probably benign Het
Itgad A G 7: 128,189,821 T515A possibly damaging Het
Kcnc2 T A 10: 112,455,926 S340T possibly damaging Het
Krba1 C T 6: 48,415,642 T830I possibly damaging Het
Lrch1 G A 14: 74,795,293 probably benign Het
Mag C T 7: 30,908,452 V295M probably damaging Het
Mmp16 T A 4: 18,093,371 D375E probably benign Het
Olfr1216 A G 2: 89,013,479 V195A probably benign Het
Olfr314 T C 11: 58,787,097 Y288H probably damaging Het
Olfr90 A G 17: 37,085,667 F166S probably damaging Het
Pcyox1l T C 18: 61,707,536 probably benign Het
Secisbp2l A G 2: 125,758,207 S403P probably benign Het
Sh3tc2 T A 18: 62,014,907 H1229Q probably benign Het
Svep1 A C 4: 58,088,245 W1735G possibly damaging Het
Tbxas1 T A 6: 39,021,157 C220S probably benign Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Ywhag A G 5: 135,911,494 V82A probably benign Het
Other mutations in Dgat2l6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0702:Dgat2l6 UTSW X 100542681 missense probably damaging 1.00
Posted On2014-05-07