Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:Dlg1'

457833

Institutional Source

Beutler Lab

Gene Symbol

Dlg1

Ensembl Gene

ENSMUSG00000022770

Gene Name

discs large MAGUK scaffold protein 1

Synonyms

Dlgh1, B130052P05Rik, SAP97

MMRRC Submission

044089-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31663443-31875129 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 31791886 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023454] [ENSMUST00000023454] [ENSMUST00000064477] [ENSMUST00000100001] [ENSMUST00000100001] [ENSMUST00000115196] [ENSMUST00000115196] [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: 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 null
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 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 null
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 null
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

Meta Mutation Damage Score

0.9597

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919	I208N	possibly damaging	Het
Asap2	T	A	12: 21,218,190	I319N	probably damaging	Het
Atp11b	T	C	3: 35,837,547	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532	F186L	probably benign	Het
C3	T	A	17: 57,214,831	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291		probably null	Het
Chd7	G	A	4: 8,866,382	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234		probably benign	Het
Dock3	A	G	9: 107,023,803	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237	V59E	possibly damaging	Het
Eif2ak1	A	G	5: 143,886,915	I393M	probably damaging	Het
Fam83g	A	T	11: 61,702,594	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463		probably null	Het
Gata2	T	C	6: 88,200,740	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401		probably benign	Het
Gm15517	A	T	7: 44,260,642		probably benign	Het
Haus4	T	C	14: 54,544,219	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649	R195L	probably benign	Het
Kcnn2	A	T	18: 45,592,345	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,908,110	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217	F11L	probably benign	Het
Kpna7	A	G	5: 144,989,795	F449S	probably damaging	Het
Krt77	G	T	15: 101,865,453	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515	V1318A	probably damaging	Het
March10	A	T	11: 105,402,146	V145D	possibly damaging	Het
Mcpt1	T	A	14: 56,019,512	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059		probably benign	Het
Mmp25	T	C	17: 23,631,074	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723		probably null	Het
Muc5b	T	G	7: 141,858,421	S1701R	unknown	Het
Naalad2	A	T	9: 18,330,641	S656T	probably benign	Het
Ncapd2	T	C	6: 125,187,089	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,425,800	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967	Y259*	probably null	Het
P2rx4	T	A	5: 122,719,165	S155T	probably benign	Het
P2rx4	T	G	5: 122,727,208	Y299D	probably damaging	Het
Pcsk6	A	T	7: 66,043,624	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797		silent	Het
Pfkl	A	G	10: 77,991,370	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314		probably null	Het
Rnf24	A	G	2: 131,322,245		probably benign	Het
Scn3a	A	G	2: 65,497,398	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300	N410K	unknown	Het
Supt20	G	T	3: 54,712,207	W370L	probably benign	Het
Tas2r139	T	A	6: 42,141,496	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627	S32A	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
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
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
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'- TCAGGGTAAATGACTGTATACTGAGAG -3'
(R):5'- ATGCATGGTGTGTATACGGC -3'

Sequencing Primer
(F):5'- GTAAATGAAGCAGACGTTCGTG -3'
(R):5'- TACTATAGGGCTGCTGCAAATGC -3'

Posted On

2017-02-15