Mutagenetix > Incidental Mutation

Incidental Mutation 'R4294:Dlg3'

323238

Institutional Source

Beutler Lab

Gene Symbol

Dlg3

Ensembl Gene

ENSMUSG00000000881

Gene Name

discs large MAGUK scaffold protein 3

Synonyms

SAP102, Dlgh3, DLG3

MMRRC Submission

041083-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.519) question?

Stock #

R4294 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

99811328-99862016 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 99840288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000901] [ENSMUST00000087984] [ENSMUST00000113735] [ENSMUST00000113736]

AlphaFold

P70175

Predicted Effect

probably benign
Transcript: ENSMUST00000000901

SMART Domains

Protein: ENSMUSP00000000901
Gene: ENSMUSG00000000881

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	49	130	5.38e-8	SMART
PDZ	139	218	3.88e-21	SMART
PDZ	234	313	1.15e-23	SMART
PDZ	394	467	3.59e-25	SMART
low complexity region	484	495	N/A	INTRINSIC
SH3	504	570	2.28e-11	SMART
GuKc	626	805	7.7e-76	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087984

SMART Domains

Protein: ENSMUSP00000085299
Gene: ENSMUSG00000000881

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	49	148	5.74e-26	SMART
PDZ	157	236	3.88e-21	SMART
PDZ	252	331	1.15e-23	SMART
PDZ	412	485	3.59e-25	SMART
low complexity region	502	513	N/A	INTRINSIC
SH3	522	588	2.28e-11	SMART
low complexity region	629	638	N/A	INTRINSIC
GuKc	658	837	7.7e-76	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113735

SMART Domains

Protein: ENSMUSP00000109364
Gene: ENSMUSG00000000881

Domain	Start	End	E-Value	Type
low complexity region	8	33	N/A	INTRINSIC
PDZ	57	130	3.59e-25	SMART
low complexity region	147	158	N/A	INTRINSIC
SH3	167	233	2.28e-11	SMART
low complexity region	257	272	N/A	INTRINSIC
low complexity region	292	301	N/A	INTRINSIC
GuKc	321	500	7.7e-76	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000113736

SMART Domains

Protein: ENSMUSP00000109365
Gene: ENSMUSG00000000881

Domain	Start	End	E-Value	Type
MAGUK_N_PEST	49	148	5.74e-26	SMART
PDZ	157	236	3.88e-21	SMART
PDZ	252	331	1.15e-23	SMART
PDZ	412	485	3.59e-25	SMART
low complexity region	502	513	N/A	INTRINSIC
SH3	522	588	2.28e-11	SMART
GuKc	644	823	7.7e-76	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151020

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with the C-terminal region of the adenomatosis polyposis coli tumor suppressor protein. Mutations in this gene have been associated with X-linked mental retardation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
PHENOTYPE: Male mice hemizygous for a knock-out allele show alterations in spatial learning, locomotor activation, LTP, and spike-timing-dependent plasticity. A portion of chimeras hemizygous for a gene trapped allele display forebrain deletion, posterior truncation, and failure to initiate embryo turning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	A	T	19: 21,576,113 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,619,543 (GRCm39)	I960M	possibly damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Bsnd	C	T	4: 106,342,355 (GRCm39)	R271H	probably benign	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Clip2	A	C	5: 134,521,167 (GRCm39)	V957G	probably benign	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Cyp3a11	A	T	5: 145,806,005 (GRCm39)	S121T	probably benign	Het
Dlc1	A	G	8: 37,051,907 (GRCm39)	V608A	possibly damaging	Het
Dock3	T	A	9: 106,807,242 (GRCm39)	R1362W	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gimap8	A	T	6: 48,635,891 (GRCm39)	H552L	probably benign	Het
Gpr151	T	C	18: 42,711,602 (GRCm39)	T359A	probably benign	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Magel2	T	G	7: 62,028,515 (GRCm39)	V473G	possibly damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Nat8f1	T	C	6: 85,887,637 (GRCm39)	T108A	probably benign	Het
Nphp3	T	A	9: 103,899,916 (GRCm39)	L502Q	probably damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Otud7a	A	G	7: 63,346,939 (GRCm39)	D171G	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Rpl27-ps3	T	A	18: 6,332,607 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Setd5	AT	ATT	6: 113,088,281 (GRCm39)		probably benign	Het
Sgsm1	A	G	5: 113,433,270 (GRCm39)	Y182H	probably damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Thrb	C	T	14: 18,011,145 (GRCm38)	Q174*	probably null	Het
Ticam1	A	G	17: 56,578,339 (GRCm39)	I252T	probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Trpv1	C	T	11: 73,131,290 (GRCm39)	A276V	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn2r74	T	A	7: 85,606,624 (GRCm39)	I241F	probably benign	Het

Other mutations in Dlg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Dlg3	APN	X	99,850,199 (GRCm39)	missense	probably damaging	0.99
IGL01287:Dlg3	APN	X	99,850,848 (GRCm39)	missense	possibly damaging	0.51
IGL02225:Dlg3	APN	X	99,850,794 (GRCm39)	missense	probably benign	0.01
IGL02377:Dlg3	APN	X	99,817,007 (GRCm39)	missense	possibly damaging	0.92
IGL03268:Dlg3	APN	X	99,853,493 (GRCm39)	missense	probably damaging	0.98
R2192:Dlg3	UTSW	X	99,817,827 (GRCm39)	missense	probably damaging	0.98
R4290:Dlg3	UTSW	X	99,840,288 (GRCm39)	splice site	probably benign
R4293:Dlg3	UTSW	X	99,840,288 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGCCATGCCCAAATGCAAC -3'
(R):5'- CCTACCAGTTAGCCAAGAGC -3'

Sequencing Primer
(F):5'- CCCTTCTTGGTGGGGAGG -3'
(R):5'- CAAGAGCAGCTAGGCCG -3'

Posted On

2015-06-20