Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03268:Dlg3'

415140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dlg3

Ensembl Gene

ENSMUSG00000000881

Gene Name

discs large MAGUK scaffold protein 3

Synonyms

SAP102, Dlgh3, DLG3

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.569) question?

Stock #

IGL03268

Quality Score

Status

Chromosome

Chromosomal Location

99811328-99862016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99853493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 600 (Y600C)

Ref Sequence

ENSEMBL: ENSMUSP00000000901 (fasta)

Gene Model

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

AlphaFold

P70175

Predicted Effect

probably damaging
Transcript: ENSMUST00000000901
AA Change: Y600C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000901
Gene: ENSMUSG00000000881
AA Change: Y600C

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
AA Change: Y618C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085299
Gene: ENSMUSG00000000881
AA Change: Y618C

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

possibly damaging
Transcript: ENSMUST00000113736
AA Change: Y618C

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109365
Gene: ENSMUSG00000000881
AA Change: Y618C

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: ENSMUST00000146772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151020

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 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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	G	T	4: 155,818,648 (GRCm39)		probably benign	Het
Acvrl1	A	T	15: 101,033,803 (GRCm39)	I162F	possibly damaging	Het
Adprhl1	A	G	8: 13,296,170 (GRCm39)		probably benign	Het
Anapc7	G	A	5: 122,567,669 (GRCm39)		probably null	Het
Ankrd13a	T	C	5: 114,930,296 (GRCm39)	L227P	probably damaging	Het
Anxa5	T	C	3: 36,504,828 (GRCm39)	I245V	probably benign	Het
Arf1	A	T	11: 59,103,663 (GRCm39)	V123E	possibly damaging	Het
Catsperg1	G	A	7: 28,899,668 (GRCm39)	R338C	probably damaging	Het
Cc2d1a	A	C	8: 84,860,154 (GRCm39)	L855R	probably damaging	Het
Cdh18	G	A	15: 23,366,953 (GRCm39)	A220T	probably damaging	Het
Cep350	T	C	1: 155,829,295 (GRCm39)	H203R	probably benign	Het
Cep78	G	T	19: 15,951,806 (GRCm39)	S333*	probably null	Het
Chrna2	T	A	14: 66,388,395 (GRCm39)		probably benign	Het
Dact1	T	C	12: 71,364,257 (GRCm39)	V346A	probably damaging	Het
Dcn	A	G	10: 97,319,240 (GRCm39)	I6V	probably benign	Het
Dmd	A	G	X: 82,849,814 (GRCm39)	E1084G	probably damaging	Het
Epb41	A	C	4: 131,655,806 (GRCm39)	D825E	probably damaging	Het
Galc	T	A	12: 98,188,852 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,648,261 (GRCm39)	D675V	probably damaging	Het
Igkv2-137	A	G	6: 67,533,092 (GRCm39)	D85G	probably benign	Het
Kxd1	A	G	8: 70,961,136 (GRCm39)	I78T	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lama2	A	T	10: 27,298,649 (GRCm39)	I149N	probably damaging	Het
Mbnl2	G	T	14: 120,616,569 (GRCm39)	C61F	probably damaging	Het
Mcts1	T	C	X: 37,690,859 (GRCm39)	I22T	possibly damaging	Het
Or4k15b	T	C	14: 50,272,024 (GRCm39)	T279A	probably damaging	Het
Or52e3	T	G	7: 102,869,848 (GRCm39)	F308V	probably benign	Het
Pde12	T	A	14: 26,389,614 (GRCm39)	E365V	probably benign	Het
Prl8a2	A	G	13: 27,537,938 (GRCm39)	K204R	probably benign	Het
Rnf25	A	T	1: 74,638,217 (GRCm39)		probably benign	Het
Rragb	A	G	X: 151,923,493 (GRCm39)	D5G	unknown	Het
Rsrc2	T	A	5: 123,878,790 (GRCm39)	K56*	probably null	Het
Scn5a	T	C	9: 119,350,297 (GRCm39)	Q859R	probably damaging	Het
Septin4	G	A	11: 87,480,529 (GRCm39)	V388M	probably damaging	Het
Slc29a2	C	T	19: 5,074,531 (GRCm39)		probably benign	Het
Slc30a5	G	A	13: 100,943,211 (GRCm39)	T549I	probably damaging	Het
Slc7a2	A	G	8: 41,365,554 (GRCm39)	T462A	probably benign	Het
Spsb2	A	G	6: 124,786,450 (GRCm39)	E61G	probably damaging	Het
Srr	A	G	11: 74,803,943 (GRCm39)	Y5H	probably benign	Het
Suclg2	T	C	6: 95,546,573 (GRCm39)	D301G	probably damaging	Het
Syt14	A	G	1: 192,669,142 (GRCm39)	V37A	probably benign	Het
Syt9	A	G	7: 107,035,612 (GRCm39)	N210D	probably benign	Het
Tenm3	T	C	8: 48,688,558 (GRCm39)	D2343G	probably damaging	Het
Tma7	A	G	9: 108,907,450 (GRCm39)		probably benign	Het
Tor3a	T	C	1: 156,497,020 (GRCm39)	D175G	probably damaging	Het
Tpo	G	T	12: 30,144,964 (GRCm39)	A595D	possibly damaging	Het
Tpst2	T	C	5: 112,456,091 (GRCm39)	V210A	probably damaging	Het
Uchl1	A	T	5: 66,839,824 (GRCm39)	E122V	probably benign	Het
Vmn1r210	A	T	13: 23,011,405 (GRCm39)	F294I	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
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
R4294:Dlg3	UTSW	X	99,840,288 (GRCm39)	splice site	probably benign

Posted On

2016-08-02