Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Dlg1'

388582

Institutional Source

Beutler Lab

Gene Symbol

Dlg1

Ensembl Gene

ENSMUSG00000022770

Gene Name

discs large MAGUK scaffold protein 1

Synonyms

Dlgh1, B130052P05Rik, SAP97

MMRRC Submission

042659-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31663443-31875129 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 31684295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110859 (fasta)

Gene Model

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

AlphaFold

Q811D0

Predicted Effect

probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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: 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: ENSMUST00000155958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232316

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,792	S739P	possibly damaging	Het
9330182L06Rik	T	A	5: 9,440,897	C636S	probably damaging	Het
Actn2	A	G	13: 12,288,522	I464T	possibly damaging	Het
Adcy7	T	C	8: 88,327,697	L1060P	probably damaging	Het
Aff3	A	G	1: 38,181,613		probably null	Het
Ankar	T	C	1: 72,680,210		probably null	Het
Ankrd27	A	T	7: 35,628,435	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,075,206	T90A	probably damaging	Het
Armc9	A	T	1: 86,257,237	H670L	probably benign	Het
Arvcf	A	G	16: 18,398,986	Y412C	probably damaging	Het
Ass1	C	T	2: 31,510,173	T301M	probably damaging	Het
Baiap3	A	T	17: 25,249,108	C283S	probably damaging	Het
BC055324	T	C	1: 163,987,674	T93A	possibly damaging	Het
Birc6	C	T	17: 74,565,972	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,711,092	L354P	probably damaging	Het
Cdh3	A	G	8: 106,536,826	N126S	probably benign	Het
Cfap54	A	C	10: 92,937,774	F135L	probably benign	Het
Dnah3	T	C	7: 120,032,790	H1314R	probably benign	Het
Dsp	A	C	13: 38,197,123	T2615P	possibly damaging	Het
Enpp2	T	C	15: 54,864,054	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,570,063	V1128A	probably benign	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm1043	T	G	5: 37,187,236	L231R	probably damaging	Het
Gm13178	T	A	4: 144,703,867	D184V	probably damaging	Het
Gm14085	A	T	2: 122,494,373	N142I	possibly damaging	Het
Gm14685	T	C	X: 73,127,971	I323T	probably damaging	Het
Gpr153	T	A	4: 152,279,883	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,354,647	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,676,727		probably null	Het
Kat6a	G	A	8: 22,903,133	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,104,637	V178D	probably damaging	Het
Krt75	A	G	15: 101,566,238		probably null	Het
Letm2	G	A	8: 25,593,964	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002	E646G	probably damaging	Het
Mmp14	T	A	14: 54,439,113	Y372N	probably damaging	Het
Muc6	A	G	7: 141,651,299	C218R	probably damaging	Het
Myof	A	T	19: 37,905,325	I1130N	possibly damaging	Het
Neil3	A	G	8: 53,601,041	S318P	possibly damaging	Het
Nhlh1	A	G	1: 172,053,900	V133A	probably benign	Het
Nup153	A	C	13: 46,709,792	S331A	probably benign	Het
Nup98	T	C	7: 102,145,655	T882A	probably benign	Het
Olfr1413	T	A	1: 92,573,413	S81T	probably damaging	Het
Olfr599	A	T	7: 103,338,022		probably null	Het
Olfr744	T	A	14: 50,618,740	C173S	probably damaging	Het
Olfr749	C	A	14: 50,737,074	L29F	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pald1	A	T	10: 61,341,246	M675K	possibly damaging	Het
Pex5	A	G	6: 124,413,596	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,111,140	A897V	probably benign	Het
Plxnd1	A	T	6: 115,965,901	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,736,735		probably null	Het
Ppfia1	G	A	7: 144,514,473	Q446*	probably null	Het
Psma2	G	A	13: 14,616,028	V20I	probably benign	Het
Rhbdl2	T	A	4: 123,817,917	L149*	probably null	Het
Rnf17	T	C	14: 56,505,928	V1317A	probably damaging	Het
Rtel1	G	A	2: 181,355,492	V1042M	probably benign	Het
Sidt2	A	T	9: 45,939,461		probably null	Het
Slc11a1	G	A	1: 74,385,184	A434T	probably damaging	Het
Slc4a10	G	A	2: 62,267,571	R508H	probably benign	Het
Slc5a8	A	T	10: 88,886,598	I98F	possibly damaging	Het
Slf2	T	A	19: 44,935,253	S169T	possibly damaging	Het
Snx33	A	T	9: 56,926,191	I198N	probably damaging	Het
Spock3	A	G	8: 63,355,265	T396A	probably benign	Het
Sva	A	T	6: 42,038,417		probably benign	Het
Syt7	A	G	19: 10,439,237	N261S	probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Thoc2	C	T	X: 41,806,693	E1491K	probably damaging	Het
Tlr1	T	C	5: 64,926,400	Y278C	probably benign	Het
Tph2	T	A	10: 115,151,174	Y237F	probably benign	Het
Trim35	C	T	14: 66,308,972		probably benign	Het
Trpm4	T	G	7: 45,310,469	Y667S	probably damaging	Het
Ttc27	T	A	17: 74,799,342	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,940,089	H709R	probably damaging	Het
Vwa7	G	A	17: 35,024,190	V615I	probably benign	Het
Wars2	A	G	3: 99,187,533	H48R	probably damaging	Het
Xlr4c	T	A	X: 73,238,684	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,418,783	C1427*	probably null	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
R0257:Dlg1	UTSW	16	31842853	splice site	probably benign
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
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
R8751:Dlg1	UTSW	16	31781830	missense	probably benign
R9052:Dlg1	UTSW	16	31838124	missense	probably damaging	1.00
R9674:Dlg1	UTSW	16	31791762	missense	probably damaging	0.98
R9725:Dlg1	UTSW	16	31846865	missense	probably benign	0.44
R9741:Dlg1	UTSW	16	31857917	nonsense	probably null
X0021:Dlg1	UTSW	16	31665708	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TTTCTAAGACTTGCCTTGCAGG -3'
(R):5'- TTTCTGAGATCTACCACCAAGACAC -3'

Sequencing Primer
(F):5'- TTGATCCCAGCACTTGAGAG -3'
(R):5'- GATCTACCACCAAGACACTAATTTC -3'

Posted On

2016-06-06