Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01287:Dlg3'

72759

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 #

IGL01287

Quality Score

Status

Chromosome

Chromosomal Location

99811328-99862016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99850848 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 587 (I587T)

Ref Sequence

ENSEMBL: ENSMUSP00000000901 (fasta)

Gene Model

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

AlphaFold

P70175

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000901
AA Change: I587T

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000000901
Gene: ENSMUSG00000000881
AA Change: I587T

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: I605T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000085299
Gene: ENSMUSG00000000881
AA Change: I605T

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
AA Change: I250T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109364
Gene: ENSMUSG00000000881
AA Change: I250T

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: I605T

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109365
Gene: ENSMUSG00000000881
AA Change: I605T

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,165,040 (GRCm39)	K445E	probably damaging	Het
Abca15	A	T	7: 119,932,081 (GRCm39)		probably benign	Het
Acsbg3	C	T	17: 57,189,203 (GRCm39)	Q204*	probably null	Het
Acvr1c	A	T	2: 58,170,254 (GRCm39)	C371*	probably null	Het
Brs3	T	C	X: 56,092,727 (GRCm39)		probably benign	Het
Car14	C	T	3: 95,806,871 (GRCm39)	V198M	possibly damaging	Het
Cenpc1	G	A	5: 86,170,313 (GRCm39)	R704*	probably null	Het
Crybg1	C	T	10: 43,868,490 (GRCm39)	R1396H	possibly damaging	Het
Cubn	A	G	2: 13,315,377 (GRCm39)	S3019P	probably damaging	Het
Cyp2j9	T	C	4: 96,471,665 (GRCm39)	E222G	probably benign	Het
Defb50	C	A	8: 22,321,187 (GRCm39)	T59K	probably benign	Het
Doc2a	C	T	7: 126,450,173 (GRCm39)	R204C	probably damaging	Het
Galc	T	C	12: 98,212,503 (GRCm39)		probably benign	Het
Gm8257	A	T	14: 44,892,800 (GRCm39)	F67I	probably damaging	Het
Hnrnpul1	A	T	7: 25,426,323 (GRCm39)	N509K	probably damaging	Het
Iars2	T	A	1: 185,028,625 (GRCm39)	I678F	possibly damaging	Het
Ifit1	A	G	19: 34,625,533 (GRCm39)	E223G	possibly damaging	Het
Krt81	G	A	15: 101,361,269 (GRCm39)	H104Y	probably benign	Het
Lrp4	C	A	2: 91,304,293 (GRCm39)	D157E	probably damaging	Het
Ltk	T	A	2: 119,586,186 (GRCm39)	T21S	probably benign	Het
Lvrn	A	T	18: 46,997,733 (GRCm39)		probably benign	Het
Maob	G	A	X: 16,578,881 (GRCm39)	A424V	probably damaging	Het
Myo1g	C	A	11: 6,465,856 (GRCm39)	V410F	possibly damaging	Het
Myorg	T	A	4: 41,498,923 (GRCm39)	I236F	possibly damaging	Het
Naxe	T	C	3: 87,963,981 (GRCm39)	H250R	probably damaging	Het
Nek5	T	C	8: 22,601,199 (GRCm39)	N174S	possibly damaging	Het
Or2y3	G	T	17: 38,392,998 (GRCm39)	N290K	probably damaging	Het
Or51l14	C	T	7: 103,101,002 (GRCm39)	R153W	probably damaging	Het
Or9m2	A	G	2: 87,821,288 (GRCm39)	T278A	probably benign	Het
Pex1	A	G	5: 3,656,027 (GRCm39)	T285A	probably benign	Het
Pfas	A	G	11: 68,892,086 (GRCm39)	S141P	probably benign	Het
Pmm1	T	C	15: 81,839,945 (GRCm39)	T127A	probably damaging	Het
Proc	C	A	18: 32,256,873 (GRCm39)		probably benign	Het
Ranbp9	T	C	13: 43,633,980 (GRCm39)	E142G	probably damaging	Het
Recql4	C	A	15: 76,594,112 (GRCm39)		probably benign	Het
Robo4	C	T	9: 37,324,336 (GRCm39)	P955S	possibly damaging	Het
Ryr3	T	A	2: 112,539,418 (GRCm39)	N3274I	probably damaging	Het
Serpinb10	T	C	1: 107,468,612 (GRCm39)		probably benign	Het
Slc9c1	A	T	16: 45,404,811 (GRCm39)	K848*	probably null	Het
Slfn5	A	G	11: 82,847,807 (GRCm39)	T231A	probably damaging	Het
Syncrip	T	C	9: 88,338,660 (GRCm39)		probably benign	Het
Syt16	A	T	12: 74,313,513 (GRCm39)	T480S	probably damaging	Het
Taf1c	G	A	8: 120,327,931 (GRCm39)	T293M	probably benign	Het
Tbc1d5	T	C	17: 51,120,826 (GRCm39)	D430G	possibly damaging	Het
Tbx18	T	C	9: 87,606,384 (GRCm39)	T254A	probably damaging	Het
Tpm1	C	T	9: 66,943,337 (GRCm39)	R105H	probably damaging	Het
Usp17la	T	C	7: 104,510,522 (GRCm39)	S376P	probably benign	Het
Vmn1r19	A	G	6: 57,382,179 (GRCm39)	D244G	probably damaging	Het
Vmn1r58	A	T	7: 5,414,054 (GRCm39)	F59I	probably benign	Het
Vmn2r45	A	T	7: 8,488,622 (GRCm39)	M136K	probably benign	Het
Vmn2r70	T	A	7: 85,218,227 (GRCm39)	R24*	probably null	Het
Vmn2r75	T	A	7: 85,797,801 (GRCm39)	I671F	probably damaging	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
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

2013-10-07