Mutagenetix > Incidental Mutations

Incidental Mutation 'R0257:Dlg1'

34805

Institutional Source

Beutler Lab

Gene Symbol

Dlg1

Ensembl Gene

ENSMUSG00000022770

Gene Name

discs large MAGUK scaffold protein 1

Synonyms

Dlgh1, B130052P05Rik, SAP97

MMRRC Submission

038488-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0257 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

31663443-31875129 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 31842853 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023454] [ENSMUST00000064477] [ENSMUST00000100001] [ENSMUST00000115196] [ENSMUST00000115201] [ENSMUST00000115205] [ENSMUST00000132176]

Predicted Effect

probably benign
Transcript: ENSMUST00000023454

SMART Domains

Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770

Domain	Start	End	E-Value	Type
L27	7	67	7.33e-12	SMART
MAGUK_N_PEST	106	190	4.33e-44	SMART
PDZ	199	278	5.98e-22	SMART
PDZ	294	373	1.94e-21	SMART
PDZ	441	514	1.84e-22	SMART
low complexity region	534	542	N/A	INTRINSIC
SH3	551	617	1.27e-9	SMART
GuKc	681	860	1.54e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064477

SMART Domains

Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770

Domain	Start	End	E-Value	Type
L27	7	67	7.33e-12	SMART
MAGUK_N_PEST	106	223	6.07e-57	SMART
PDZ	232	311	5.98e-22	SMART
PDZ	327	406	1.94e-21	SMART
PDZ	474	547	1.84e-22	SMART
low complexity region	567	575	N/A	INTRINSIC
SH3	584	650	1.27e-9	SMART
GuKc	736	915	1.54e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100001

SMART Domains

Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770

Domain	Start	End	E-Value	Type
L27	7	67	7.33e-12	SMART
MAGUK_N_PEST	106	223	6.07e-57	SMART
PDZ	232	311	5.98e-22	SMART
PDZ	327	406	1.94e-21	SMART
PDZ	474	547	1.84e-22	SMART
low complexity region	567	575	N/A	INTRINSIC
SH3	584	650	1.27e-9	SMART
GuKc	714	893	1.54e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115196

SMART Domains

Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770

Domain	Start	End	E-Value	Type
low complexity region	13	27	N/A	INTRINSIC
MAGUK_N_PEST	30	140	1.81e-14	SMART
PDZ	149	228	5.98e-22	SMART
PDZ	244	323	1.94e-21	SMART
PDZ	391	464	1.84e-22	SMART
low complexity region	484	492	N/A	INTRINSIC
SH3	501	567	1.27e-9	SMART
GuKc	643	822	1.54e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115201

SMART Domains

Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770

Domain	Start	End	E-Value	Type
L27	7	67	7.33e-12	SMART
MAGUK_N_PEST	106	223	6.07e-57	SMART
PDZ	232	311	5.98e-22	SMART
PDZ	327	406	1.94e-21	SMART
PDZ	474	547	1.84e-22	SMART
low complexity region	567	575	N/A	INTRINSIC
SH3	584	650	1.27e-9	SMART
GuKc	721	900	1.54e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115205

SMART Domains

Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770

Domain	Start	End	E-Value	Type
L27	7	67	7.33e-12	SMART
MAGUK_N_PEST	106	223	6.07e-57	SMART
PDZ	232	311	5.98e-22	SMART
PDZ	327	406	1.94e-21	SMART
PDZ	474	547	1.84e-22	SMART
low complexity region	567	575	N/A	INTRINSIC
SH3	584	650	1.27e-9	SMART
GuKc	714	893	1.54e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130920

Predicted Effect

probably benign
Transcript: ENSMUST00000131136

SMART Domains

Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770

Domain	Start	End	E-Value	Type
PDZ	38	117	1.94e-21	SMART
PDZ	170	243	1.84e-22	SMART
low complexity region	263	271	N/A	INTRINSIC
SH3	280	346	1.27e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132176

SMART Domains

Protein: ENSMUSP00000138782
Gene: ENSMUSG00000022770

Domain	Start	End	E-Value	Type
L27	7	67	7.33e-12	SMART
MAGUK_N_PEST	106	190	4.33e-44	SMART
PDZ	199	278	5.98e-22	SMART
PDZ	294	373	1.94e-21	SMART
PDZ	426	499	1.84e-22	SMART
low complexity region	519	527	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155847

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene, but the full-length nature of some of the variants is not known. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit neonatal lethality, craniofacial defects, and abnormal eye morphology. Mice homozygous for knock-out alleles exhibit neonatal lethality, kidney defects, reproductive organ morphology, and cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Dlg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01604:Dlg1	APN	16	31856438	splice site	probably benign
IGL02277:Dlg1	APN	16	31790264	missense	probably damaging	1.00
IGL02897:Dlg1	APN	16	31771856	critical splice donor site	probably null
IGL03025:Dlg1	APN	16	31805727	missense	probably benign	0.00
IGL03271:Dlg1	APN	16	31857892	missense	possibly damaging	0.94
PIT4812001:Dlg1	UTSW	16	31846885	missense	probably benign	0.01
R0068:Dlg1	UTSW	16	31836200	unclassified	probably benign
R0115:Dlg1	UTSW	16	31805690	nonsense	probably null
R0128:Dlg1	UTSW	16	31858065	critical splice donor site	probably null
R0268:Dlg1	UTSW	16	31684193	missense	probably benign
R0312:Dlg1	UTSW	16	31790267	missense	probably benign
R0321:Dlg1	UTSW	16	31858036	missense	probably damaging	1.00
R0355:Dlg1	UTSW	16	31684174	nonsense	probably null
R0538:Dlg1	UTSW	16	31796864	critical splice acceptor site	probably null
R0540:Dlg1	UTSW	16	31838174	missense	possibly damaging	0.90
R0607:Dlg1	UTSW	16	31665580	missense	probably benign	0.37
R0607:Dlg1	UTSW	16	31838174	missense	possibly damaging	0.90
R0894:Dlg1	UTSW	16	31743147	missense	probably benign	0.03
R1107:Dlg1	UTSW	16	31846916	missense	probably benign	0.00
R1349:Dlg1	UTSW	16	31812820	missense	probably damaging	1.00
R1372:Dlg1	UTSW	16	31812820	missense	probably damaging	1.00
R1468:Dlg1	UTSW	16	31842822	splice site	probably null
R1468:Dlg1	UTSW	16	31842822	splice site	probably null
R1696:Dlg1	UTSW	16	31781798	missense	probably damaging	0.96
R1772:Dlg1	UTSW	16	31665667	missense	possibly damaging	0.75
R1795:Dlg1	UTSW	16	31743147	missense	probably benign	0.03
R2106:Dlg1	UTSW	16	31812756	missense	probably damaging	1.00
R2206:Dlg1	UTSW	16	31853846	missense	probably benign	0.18
R2207:Dlg1	UTSW	16	31853846	missense	probably benign	0.18
R2846:Dlg1	UTSW	16	31863197	missense	probably damaging	1.00
R3954:Dlg1	UTSW	16	31858008	missense	probably damaging	1.00
R4714:Dlg1	UTSW	16	31790261	missense	probably damaging	1.00
R4758:Dlg1	UTSW	16	31791752	missense	possibly damaging	0.92
R4898:Dlg1	UTSW	16	31857946	missense	probably damaging	1.00
R4964:Dlg1	UTSW	16	31754808	missense	probably benign	0.21
R4966:Dlg1	UTSW	16	31754808	missense	probably benign	0.21
R4985:Dlg1	UTSW	16	31788135	splice site	probably null
R5068:Dlg1	UTSW	16	31684295	critical splice donor site	probably null
R5069:Dlg1	UTSW	16	31684295	critical splice donor site	probably null
R5078:Dlg1	UTSW	16	31856469	nonsense	probably null
R5090:Dlg1	UTSW	16	31838084	missense	probably damaging	1.00
R5225:Dlg1	UTSW	16	31836267	missense	probably benign	0.21
R5888:Dlg1	UTSW	16	31791886	critical splice donor site	probably null
R5950:Dlg1	UTSW	16	31665583	missense	probably damaging	1.00
R6029:Dlg1	UTSW	16	31793570	missense	probably damaging	1.00
R6132:Dlg1	UTSW	16	31836241	missense	possibly damaging	0.93
R6246:Dlg1	UTSW	16	31665650	missense	probably benign	0.00
R6294:Dlg1	UTSW	16	31838124	missense	probably damaging	1.00
R6322:Dlg1	UTSW	16	31856479	missense	probably damaging	1.00
R7147:Dlg1	UTSW	16	31791854	missense	probably benign
R7216:Dlg1	UTSW	16	31796918	frame shift	probably null
R7963:Dlg1	UTSW	16	31790301	missense	probably null	0.92
R7985:Dlg1	UTSW	16	31788105	nonsense	probably null
R8041:Dlg1	UTSW	16	31838067	missense	possibly damaging	0.91
R8111:Dlg1	UTSW	16	31842802	missense	possibly damaging	0.79
X0021:Dlg1	UTSW	16	31665708	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAAATTCTAGACATCAGGACTCGGTGC -3'
(R):5'- ACACCCAGCCCTCTTTAATGACGG -3'

Sequencing Primer
(F):5'- TCAGGACTCGGTGCTAGAAAATAAG -3'
(R):5'- aaatctgtctgcctctgcc -3'

Posted On

2013-05-09