Incidental Mutation 'IGL01484:Dagla'
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ID88873
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dagla
Ensembl Gene ENSMUSG00000035735
Gene Namediacylglycerol lipase, alpha
SynonymsNsddr
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01484
Quality Score
Status
Chromosome19
Chromosomal Location10245265-10304877 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 10248520 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 760 (L760R)
Ref Sequence ENSEMBL: ENSMUSP00000046358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039327] [ENSMUST00000125567]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039327
AA Change: L760R

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000046358
Gene: ENSMUSG00000035735
AA Change: L760R

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 97 119 N/A INTRINSIC
transmembrane domain 134 156 N/A INTRINSIC
Pfam:Lipase_3 394 533 1.3e-12 PFAM
low complexity region 616 625 N/A INTRINSIC
low complexity region 699 717 N/A INTRINSIC
low complexity region 793 810 N/A INTRINSIC
low complexity region 878 896 N/A INTRINSIC
low complexity region 980 1002 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125567
SMART Domains Protein: ENSMUSP00000138702
Gene: ENSMUSG00000035735

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156361
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 a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for null mutations have decreased body weight, adult neuronal proliferation, and nervous system endocannaboid levels and abnormal inhibitory postsynaptic currents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,629,006 H90R possibly damaging Het
Arsj A G 3: 126,365,036 D88G probably damaging Het
Clca4b C T 3: 144,928,235 V140I probably benign Het
Dnah1 T C 14: 31,299,940 E1202G probably damaging Het
Hdac9 T C 12: 34,437,165 H100R probably damaging Het
Hhip T C 8: 79,996,783 H414R probably damaging Het
Hk2 G A 6: 82,736,730 T457M probably damaging Het
Iapp A G 6: 142,303,439 T73A possibly damaging Het
Ifit1 A G 19: 34,648,843 N460D probably damaging Het
Itpa T C 2: 130,672,099 F77L probably benign Het
Knop1 T C 7: 118,852,809 D229G probably damaging Het
Lrrc32 T C 7: 98,494,235 I5T probably damaging Het
Myo7a C T 7: 98,085,422 V622M probably damaging Het
N4bp1 T C 8: 86,844,772 E866G probably damaging Het
Olfr330 A T 11: 58,529,396 W197R probably benign Het
Palmd G A 3: 116,953,145 probably benign Het
Pcbp4 A G 9: 106,460,649 probably null Het
Pigf T C 17: 87,008,880 I157V probably benign Het
Pot1b G A 17: 55,695,160 T138M possibly damaging Het
Prl7a2 T A 13: 27,659,208 D204V probably damaging Het
Rfc3 A T 5: 151,642,936 D349E probably benign Het
Sarm1 A T 11: 78,491,013 C215S probably damaging Het
Serpine1 T C 5: 137,063,472 probably benign Het
Strip1 A G 3: 107,613,259 V825A probably damaging Het
Stx12 A G 4: 132,884,362 S2P probably damaging Het
Sycp1 A C 3: 102,915,867 S311R probably benign Het
Tfpi A T 2: 84,444,825 C139* probably null Het
Tmc5 T A 7: 118,656,787 I695N probably damaging Het
Tmem169 T C 1: 72,301,104 V231A probably damaging Het
Ttbk2 T G 2: 120,739,833 S1211R possibly damaging Het
Ubr3 C T 2: 70,021,544 R1855* probably null Het
Urb1 A T 16: 90,777,560 S878T probably benign Het
Vmn1r174 T A 7: 23,754,324 Y138* probably null Het
Zfp282 A G 6: 47,890,120 N214D possibly damaging Het
Other mutations in Dagla
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01625:Dagla APN 19 10251202 splice site probably benign
IGL01697:Dagla APN 19 10271198 missense probably benign 0.01
IGL01940:Dagla APN 19 10252171 missense probably benign
IGL02330:Dagla APN 19 10248022 missense probably damaging 1.00
PIT4480001:Dagla UTSW 19 10260658 missense probably benign 0.02
R0541:Dagla UTSW 19 10254806 critical splice donor site probably null
R0610:Dagla UTSW 19 10271558 missense probably damaging 1.00
R0638:Dagla UTSW 19 10254883 missense probably damaging 0.97
R0653:Dagla UTSW 19 10248425 missense probably damaging 1.00
R1675:Dagla UTSW 19 10269323 missense probably benign 0.00
R1822:Dagla UTSW 19 10263186 missense possibly damaging 0.94
R1830:Dagla UTSW 19 10271014 missense probably benign 0.44
R2303:Dagla UTSW 19 10252103 missense probably damaging 1.00
R2568:Dagla UTSW 19 10248152 missense probably benign
R2879:Dagla UTSW 19 10271084 missense possibly damaging 0.93
R2902:Dagla UTSW 19 10248103 missense probably damaging 0.99
R2939:Dagla UTSW 19 10256364 missense probably damaging 1.00
R3771:Dagla UTSW 19 10248467 missense possibly damaging 0.89
R4176:Dagla UTSW 19 10263097 missense probably damaging 1.00
R4255:Dagla UTSW 19 10256952 nonsense probably null
R4519:Dagla UTSW 19 10269732 missense probably damaging 1.00
R4584:Dagla UTSW 19 10271009 missense probably damaging 1.00
R4586:Dagla UTSW 19 10271009 missense probably damaging 1.00
R4614:Dagla UTSW 19 10248277 missense probably damaging 1.00
R4751:Dagla UTSW 19 10250394 missense probably benign 0.00
R4933:Dagla UTSW 19 10269715 critical splice donor site probably null
R5844:Dagla UTSW 19 10271125 missense probably damaging 1.00
R5858:Dagla UTSW 19 10254968 intron probably benign
R5958:Dagla UTSW 19 10248424 missense probably damaging 1.00
R6628:Dagla UTSW 19 10263227 missense probably damaging 1.00
R6799:Dagla UTSW 19 10256850 missense probably damaging 1.00
R7072:Dagla UTSW 19 10256295 critical splice donor site probably null
R7253:Dagla UTSW 19 10262581 splice site probably null
R7451:Dagla UTSW 19 10253355 missense probably damaging 1.00
R7654:Dagla UTSW 19 10248206 missense probably benign 0.01
R7941:Dagla UTSW 19 10271503 missense probably damaging 0.99
R7980:Dagla UTSW 19 10252042 missense possibly damaging 0.82
R8293:Dagla UTSW 19 10252037 critical splice donor site probably null
R8327:Dagla UTSW 19 10251087 missense probably benign 0.11
R8442:Dagla UTSW 19 10263092 critical splice donor site probably null
R8442:Dagla UTSW 19 10271519 missense probably damaging 0.99
R8717:Dagla UTSW 19 10248223 missense probably benign 0.03
R8728:Dagla UTSW 19 10248407 missense probably damaging 1.00
R9053:Dagla UTSW 19 10269251 missense probably damaging 1.00
X0021:Dagla UTSW 19 10271164 missense probably benign
Posted On2013-11-18