Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00844:Dlg3'

12577

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: 0.519) question?

Stock #

IGL00844

Quality Score

Status

Chromosome

Chromosomal Location

99811328-99862016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99850199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 197 (H197Q)

Ref Sequence

ENSEMBL: ENSMUSP00000109364 (fasta)

Gene Model

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

AlphaFold

P70175

Predicted Effect

probably damaging
Transcript: ENSMUST00000000901
AA Change: H534Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000901
Gene: ENSMUSG00000000881
AA Change: H534Q

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

possibly damaging
Transcript: ENSMUST00000087984
AA Change: H552Q

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085299
Gene: ENSMUSG00000000881
AA Change: H552Q

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 damaging
Transcript: ENSMUST00000113735
AA Change: H197Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109364
Gene: ENSMUSG00000000881
AA Change: H197Q

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: H552Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109365
Gene: ENSMUSG00000000881
AA Change: H552Q

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,384,956 (GRCm39)	C336*	probably null	Het
Adgrv1	T	C	13: 81,688,238 (GRCm39)	D994G	probably damaging	Het
Arhgap36	G	T	X: 48,586,631 (GRCm39)	Q421H	probably damaging	Het
Arhgef17	A	G	7: 100,578,656 (GRCm39)	V764A	probably benign	Het
Atf7ip	T	C	6: 136,537,679 (GRCm39)	V304A	probably benign	Het
Babam2	T	A	5: 32,164,651 (GRCm39)	F299L	probably damaging	Het
Ceacam11	T	G	7: 17,707,595 (GRCm39)	D126E	possibly damaging	Het
Dnmt3a	T	A	12: 3,955,622 (GRCm39)	L590Q	probably damaging	Het
Fras1	A	G	5: 96,682,712 (GRCm39)		probably benign	Het
Gabarapl1	T	C	6: 129,515,598 (GRCm39)	F79L	probably benign	Het
Gabbr2	A	G	4: 46,875,711 (GRCm39)	V137A	probably damaging	Het
Gphn	T	C	12: 78,711,342 (GRCm39)		probably benign	Het
Hnrnpr	A	G	4: 136,066,516 (GRCm39)	I399M	probably benign	Het
Madd	A	C	2: 90,998,213 (GRCm39)	S636A	probably damaging	Het
Pi15	T	C	1: 17,691,764 (GRCm39)		probably benign	Het
Ppp3cb	A	T	14: 20,581,754 (GRCm39)	M87K	possibly damaging	Het
Ptpro	C	A	6: 137,391,237 (GRCm39)	H786N	probably damaging	Het
Rnase11	T	C	14: 51,287,213 (GRCm39)	I114V	possibly damaging	Het
Sirt4	A	G	5: 115,617,685 (GRCm39)		probably null	Het
Stab1	T	C	14: 30,869,023 (GRCm39)	D1534G	probably damaging	Het
Sulf2	A	G	2: 165,936,412 (GRCm39)	S185P	possibly damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tdrd6	A	G	17: 43,928,087 (GRCm39)	M2102T	probably benign	Het
Ttll5	T	C	12: 85,890,600 (GRCm39)	V77A	probably damaging	Het
Usp9x	T	G	X: 12,994,685 (GRCm39)	S959A	probably benign	Het
Vps50	C	T	6: 3,532,177 (GRCm39)	Q227*	probably null	Het
Zfp57	C	A	17: 37,320,514 (GRCm39)	Q120K	possibly damaging	Het
Zswim2	T	C	2: 83,754,115 (GRCm39)	N182D	probably benign	Het

Other mutations in Dlg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4294:Dlg3	UTSW	X	99,840,288 (GRCm39)	splice site	probably benign

Posted On

2012-12-06