Incidental Mutation 'IGL01667:Awat2'
ID103352
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Awat2
Ensembl Gene ENSMUSG00000031220
Gene Nameacyl-CoA wax alcohol acyltransferase 2
SynonymsDgat2l4, 9430062J17Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01667
Quality Score
Status
ChromosomeX
Chromosomal Location100402221-100442717 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 100404254 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 124 (G124D)
Ref Sequence ENSEMBL: ENSMUSP00000128516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033567] [ENSMUST00000113775] [ENSMUST00000113776] [ENSMUST00000113778] [ENSMUST00000113779] [ENSMUST00000113780] [ENSMUST00000113781] [ENSMUST00000113783] [ENSMUST00000147103]
Predicted Effect probably damaging
Transcript: ENSMUST00000033567
AA Change: G175D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033567
Gene: ENSMUSG00000031220
AA Change: G175D

DomainStartEndE-ValueType
Pfam:DAGAT 38 333 1.9e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113775
SMART Domains Protein: ENSMUSP00000109405
Gene: ENSMUSG00000059327

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
low complexity region 113 126 N/A INTRINSIC
Pfam:Collagen 160 247 6.2e-6 PFAM
Blast:TNF 249 306 4e-33 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113776
SMART Domains Protein: ENSMUSP00000109406
Gene: ENSMUSG00000059327

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
low complexity region 113 126 N/A INTRINSIC
Pfam:Collagen 160 247 6.2e-6 PFAM
Blast:TNF 249 306 4e-33 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113778
SMART Domains Protein: ENSMUSP00000109408
Gene: ENSMUSG00000059327

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
low complexity region 113 126 N/A INTRINSIC
Pfam:Collagen 160 247 1.8e-7 PFAM
TNF 249 380 9.25e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113779
SMART Domains Protein: ENSMUSP00000109409
Gene: ENSMUSG00000059327

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
low complexity region 113 126 N/A INTRINSIC
low complexity region 147 162 N/A INTRINSIC
low complexity region 171 178 N/A INTRINSIC
low complexity region 180 236 N/A INTRINSIC
TNF 249 385 1.22e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113780
SMART Domains Protein: ENSMUSP00000109410
Gene: ENSMUSG00000059327

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
low complexity region 113 126 N/A INTRINSIC
Pfam:Collagen 160 247 1.8e-7 PFAM
Pfam:TNF 283 371 2.8e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113781
SMART Domains Protein: ENSMUSP00000109411
Gene: ENSMUSG00000059327

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
low complexity region 113 126 N/A INTRINSIC
Pfam:Collagen 158 239 1.8e-7 PFAM
TNF 241 372 9.25e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113783
SMART Domains Protein: ENSMUSP00000109413
Gene: ENSMUSG00000059327

DomainStartEndE-ValueType
low complexity region 24 37 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
low complexity region 113 126 N/A INTRINSIC
Pfam:Collagen 158 239 1.8e-7 PFAM
TNF 241 377 1.22e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000147103
AA Change: G124D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128516
Gene: ENSMUSG00000031220
AA Change: G124D

DomainStartEndE-ValueType
Pfam:DAGAT 1 282 2.4e-104 PFAM
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 encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,570,019 T57A probably damaging Het
Akna G T 4: 63,379,159 T886N probably benign Het
Aqp9 A G 9: 71,138,213 V38A probably benign Het
Camsap1 A G 2: 25,945,281 probably benign Het
Catsperg2 T C 7: 29,710,133 Y545C probably damaging Het
Cldn23 A G 8: 35,825,920 F138S possibly damaging Het
Clec4a3 A C 6: 122,952,860 probably benign Het
Dlgap3 C A 4: 127,233,897 T786K probably benign Het
Dnah2 A C 11: 69,544,395 S50A probably benign Het
Dnah2 A T 11: 69,520,941 I285N probably damaging Het
Dnah7a A G 1: 53,547,292 Y1467H probably damaging Het
Fgf22 C T 10: 79,756,754 P115L probably damaging Het
Fzd2 G T 11: 102,605,782 V351L possibly damaging Het
Gapdhs T A 7: 30,736,637 E174V possibly damaging Het
Gjc2 A C 11: 59,177,518 I46S probably damaging Het
Gm5581 T C 6: 131,167,772 noncoding transcript Het
Krt2 C A 15: 101,816,330 V282L possibly damaging Het
Myh15 G A 16: 49,195,579 V1873M probably benign Het
Myo1b T C 1: 51,760,377 T931A probably damaging Het
Myo6 A T 9: 80,289,893 K965N unknown Het
Olfr1441 T C 19: 12,422,756 V149A probably benign Het
Pcnx3 T C 19: 5,686,630 R160G probably benign Het
Slc22a16 T C 10: 40,585,018 I272T probably damaging Het
Slc35b4 A G 6: 34,167,675 Y82H possibly damaging Het
Spdya T C 17: 71,556,259 M1T probably null Het
St6gal1 A G 16: 23,321,424 N115S probably benign Het
Tbc1d12 A T 19: 38,914,300 probably benign Het
Tfrc A G 16: 32,624,443 probably benign Het
Trip11 A C 12: 101,878,862 F1539C probably damaging Het
Ttn A T 2: 76,781,078 I15624N possibly damaging Het
Vmn1r169 A T 7: 23,577,800 M206L probably benign Het
Zfp362 A G 4: 128,787,109 L141P probably damaging Het
Zfp692 A G 11: 58,311,553 H378R probably damaging Het
Zfp799 T C 17: 32,821,820 Q52R possibly damaging Het
Other mutations in Awat2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1962:Awat2 UTSW X 100404559 missense probably damaging 1.00
R1964:Awat2 UTSW X 100404559 missense probably damaging 1.00
Posted On2014-01-21