Mutagenetix > Incidental Mutation

Incidental Mutation 'R6062:Daglb'

483837

Institutional Source

Beutler Lab

Gene Symbol

Daglb

Ensembl Gene

ENSMUSG00000039206

Gene Name

diacylglycerol lipase, beta

Synonyms

E330036I19Rik

MMRRC Submission

044227-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R6062 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

143450239-143490197 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143480358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 454 (I454T)

Ref Sequence

ENSEMBL: ENSMUSP00000043088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045593]

AlphaFold

Q91WC9

Predicted Effect

probably benign
Transcript: ENSMUST00000045593
AA Change: I454T

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000043088
Gene: ENSMUSG00000039206
AA Change: I454T

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	97	119	N/A	INTRINSIC
transmembrane domain	131	153	N/A	INTRINSIC
Pfam:Lipase_3	370	505	1.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155383

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

Validation Efficiency

98% (56/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for null mutations have a reduction in endocannabinoids in the brain and a decrease in adult neuronal proliferation in the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atat1	T	A	17: 36,219,456 (GRCm39)	Q136L	probably damaging	Het
Atm	A	G	9: 53,399,887 (GRCm39)	L1531P	probably damaging	Het
Brca2	G	A	5: 150,480,354 (GRCm39)	R2708H	probably damaging	Het
Cand1	G	A	10: 119,053,915 (GRCm39)	A141V	possibly damaging	Het
Cdcp2	T	C	4: 106,959,689 (GRCm39)	S35P	probably damaging	Het
Ces4a	G	A	8: 105,864,806 (GRCm39)		probably null	Het
Colec10	T	A	15: 54,323,203 (GRCm39)	M142K	possibly damaging	Het
Crtc1	G	T	8: 70,858,839 (GRCm39)	D90E	probably damaging	Het
Csmd1	T	C	8: 16,142,319 (GRCm39)	E1528G	possibly damaging	Het
Csnk2a2	A	G	8: 96,184,097 (GRCm39)	V154A	possibly damaging	Het
Dtna	C	A	18: 23,755,113 (GRCm39)	N478K	possibly damaging	Het
E330034G19Rik	A	T	14: 24,343,448 (GRCm39)		probably benign	Het
Ecpas	G	T	4: 58,826,453 (GRCm39)	S1038Y	possibly damaging	Het
Eefsec	A	T	6: 88,332,611 (GRCm39)	S200T	probably benign	Het
Enthd1	T	A	15: 80,336,916 (GRCm39)	D506V	probably damaging	Het
Erbb2	A	G	11: 98,324,075 (GRCm39)	Y736C	probably damaging	Het
Gabrg1	A	G	5: 70,938,056 (GRCm39)	C183R	probably damaging	Het
Ginm1	T	A	10: 7,651,097 (GRCm39)	H103L	probably benign	Het
Golgb1	C	A	16: 36,735,033 (GRCm39)	Q1427K	possibly damaging	Het
Grb14	G	T	2: 64,852,964 (GRCm39)	Q9K	possibly damaging	Het
Hbp1	A	T	12: 31,987,246 (GRCm39)	M192K	probably damaging	Het
Herpud2	A	T	9: 25,020,284 (GRCm39)	D357E	probably damaging	Het
Idi1	A	G	13: 8,937,541 (GRCm39)	S111G	probably damaging	Het
Lrrc32	T	C	7: 98,147,748 (GRCm39)	V176A	probably benign	Het
Matn1	T	A	4: 130,679,277 (GRCm39)	D310E	probably benign	Het
Mbtps1	A	T	8: 120,257,830 (GRCm39)	L469Q	possibly damaging	Het
Muc4	A	G	16: 32,579,682 (GRCm39)	D2417G	unknown	Het
Myo7b	T	C	18: 32,101,043 (GRCm39)	T1551A	possibly damaging	Het
Neb	A	G	2: 52,075,293 (GRCm39)	M224T	probably benign	Het
Ola1	A	T	2: 73,029,842 (GRCm39)	D92E	probably damaging	Het
Or1e28-ps1	A	C	11: 73,615,386 (GRCm39)	C155G	unknown	Het
Or4l1	A	T	14: 50,166,119 (GRCm39)	M294K	probably damaging	Het
Or5ar1	T	G	2: 85,671,458 (GRCm39)	I226L	probably benign	Het
Or8b48	T	A	9: 38,450,440 (GRCm39)	M83K	probably damaging	Het
Otud4	T	C	8: 80,400,525 (GRCm39)	Y1080H	probably damaging	Het
Plce1	G	A	19: 38,513,195 (GRCm39)	A165T	probably benign	Het
Prelid2	T	C	18: 42,045,530 (GRCm39)	I127V	probably benign	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rab3d	T	C	9: 21,821,815 (GRCm39)	T209A	probably benign	Het
Rapgef1	A	G	2: 29,590,744 (GRCm39)	E321G	probably damaging	Het
Rem1	T	C	2: 152,470,017 (GRCm39)	M1T	probably null	Het
Rgsl1	T	C	1: 153,675,618 (GRCm39)	K181R	possibly damaging	Het
Scel	C	A	14: 103,822,572 (GRCm39)	N395K	possibly damaging	Het
Septin9	A	G	11: 117,181,626 (GRCm39)	E142G	possibly damaging	Het
Shcbp1	A	C	8: 4,814,905 (GRCm39)	M191R	probably benign	Het
Slc22a19	T	C	19: 7,651,647 (GRCm39)	N520S	probably damaging	Het
Slc28a1	C	T	7: 80,765,311 (GRCm39)	R9*	probably null	Het
Slc2a7	T	C	4: 150,252,884 (GRCm39)	V508A	probably benign	Het
Slc8a3	G	A	12: 81,361,124 (GRCm39)	P565L	probably damaging	Het
Svil	T	G	18: 5,106,724 (GRCm39)	V1855G	probably damaging	Het
Tenm3	T	G	8: 48,796,441 (GRCm39)	I455L	possibly damaging	Het
Tmem267	T	C	13: 120,070,767 (GRCm39)	S141P	probably damaging	Het
Tnn	T	A	1: 159,925,848 (GRCm39)	D1383V	probably damaging	Het
Usp9y	G	T	Y: 1,454,199 (GRCm39)	Q23K	probably benign	Het
Vmn1r46	T	C	6: 89,953,241 (GRCm39)	I30T	possibly damaging	Het
Zfp382	T	C	7: 29,833,015 (GRCm39)	L222P	probably damaging	Het
Zfp950	T	A	19: 61,108,863 (GRCm39)	K73N	possibly damaging	Het

Other mutations in Daglb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03046:Daglb	UTSW	5	143,486,948 (GRCm39)	missense	probably damaging	1.00
PIT4802001:Daglb	UTSW	5	143,488,803 (GRCm39)	missense	probably benign	0.04
R0145:Daglb	UTSW	5	143,460,363 (GRCm39)	splice site	probably benign
R0348:Daglb	UTSW	5	143,472,951 (GRCm39)	missense	probably benign	0.01
R0504:Daglb	UTSW	5	143,479,952 (GRCm39)	missense	probably benign
R1695:Daglb	UTSW	5	143,480,361 (GRCm39)	missense	probably benign	0.02
R4043:Daglb	UTSW	5	143,472,906 (GRCm39)	missense	possibly damaging	0.92
R4358:Daglb	UTSW	5	143,458,889 (GRCm39)	intron	probably benign
R4666:Daglb	UTSW	5	143,489,104 (GRCm39)	missense	probably damaging	0.99
R5609:Daglb	UTSW	5	143,464,274 (GRCm39)	missense	probably benign	0.00
R6153:Daglb	UTSW	5	143,489,096 (GRCm39)	missense	probably benign	0.00
R6251:Daglb	UTSW	5	143,475,689 (GRCm39)	missense	probably damaging	1.00
R6475:Daglb	UTSW	5	143,467,406 (GRCm39)	missense	probably benign
R7690:Daglb	UTSW	5	143,479,938 (GRCm39)	missense	possibly damaging	0.95
R8053:Daglb	UTSW	5	143,489,024 (GRCm39)	missense	probably benign	0.00
R8114:Daglb	UTSW	5	143,464,218 (GRCm39)	missense	probably benign	0.01
Z1177:Daglb	UTSW	5	143,458,873 (GRCm39)	missense	probably null	0.99

Predicted Primers

PCR Primer
(F):5'- TGAGCCAAGCCTTCAGTGTC -3'
(R):5'- TTTACACAGCGCTGTAAACAC -3'

Sequencing Primer
(F):5'- AATTGAACTCGAGACCTCTGG -3'
(R):5'- CGCTGTAAACACACGTCTGAGG -3'

Posted On

2017-07-14