Mutagenetix > Incidental Mutations

Incidental Mutation 'R1468:Dlg1'

197767

Institutional Source

Beutler Lab

Gene Symbol

Dlg1

Ensembl Gene

ENSMUSG00000022770

Gene Name

discs large MAGUK scaffold protein 1

Synonyms

Dlgh1, B130052P05Rik, SAP97

MMRRC Submission

039521-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31663443-31875129 bp(+) (GRCm38)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 31842822 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023454
AA Change: T631A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: T631A

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
AA Change: T664A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: T664A

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
AA Change: T664A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: T664A

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
AA Change: T581A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: T581A

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
AA Change: T664A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: T664A

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
AA Change: T664A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: T664A

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 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155847

Meta Mutation Damage Score

0.0727

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,512,580	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,907,579		probably benign	Het
5031439G07Rik	G	T	15: 84,953,144	P280T	probably damaging	Het
Abca2	C	T	2: 25,441,296	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,706,409	R719S	probably benign	Het
Adam1a	A	T	5: 121,519,776		probably null	Het
Adamts7	T	C	9: 90,188,798		probably benign	Het
Adgrf3	G	A	5: 30,202,229		probably benign	Het
Aldh6a1	T	C	12: 84,441,770	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,575,752	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,792,905	R291Q	probably benign	Het
Ano2	C	T	6: 125,796,264	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,812,566	I125T	probably benign	Het
Arid1b	A	G	17: 5,242,922	D705G	probably damaging	Het
Asb18	T	A	1: 89,996,283	N86I	probably damaging	Het
Bicral	A	T	17: 46,824,593	S564T	probably benign	Het
Bpifa6	A	G	2: 153,989,272	M253V	probably benign	Het
Braf	T	C	6: 39,665,083	D194G	probably damaging	Het
Brinp3	C	A	1: 146,901,962	P716T	probably benign	Het
C7	T	A	15: 5,012,149	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 94,906,086	K421R	probably benign	Het
Cep89	G	A	7: 35,420,963		probably null	Het
Chgb	A	T	2: 132,792,800	M221L	probably benign	Het
Chst14	A	G	2: 118,927,664	Y313C	probably damaging	Het
Ciita	G	A	16: 10,513,288		probably null	Het
Clec12b	A	T	6: 129,380,640	I85N	probably damaging	Het
Clec2e	G	T	6: 129,093,496	Y187*	probably null	Het
Crbn	T	C	6: 106,790,843	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,981,281	Q201L	probably benign	Het
Ctrb1	G	T	8: 111,689,409		probably benign	Het
Cyp2c55	T	A	19: 39,011,081	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,849,395	D414E	probably damaging	Het
Ddx47	T	C	6: 135,011,740		probably benign	Het
Dnah5	C	A	15: 28,230,463	S169*	probably null	Het
Dock4	C	A	12: 40,755,810	T927K	probably benign	Het
Esrp2	T	G	8: 106,133,821	D259A	probably damaging	Het
Fam169a	A	G	13: 97,118,530	K418R	probably benign	Het
Fam207a	A	G	10: 77,497,526		probably benign	Het
Fancm	A	T	12: 65,099,293	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,732,226		probably benign	Het
Fat1	G	A	8: 45,010,545	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,862,638	D486V	probably damaging	Het
Fech	C	T	18: 64,470,673		probably benign	Het
Fermt1	C	T	2: 132,925,022	E342K	probably benign	Het
Foxp1	T	A	6: 98,978,220	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,451,975	I138L	probably benign	Het
Gm12185	T	C	11: 48,915,674	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,507,231		probably benign	Het
Gpd2	A	C	2: 57,355,774	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,037,350	K20N	probably damaging	Het
Hc	A	T	2: 34,983,807	Y158*	probably null	Het
Hectd4	A	T	5: 121,349,172	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,690,412		probably null	Het
Irx4	G	T	13: 73,265,576	R55L	possibly damaging	Het
Itgav	A	T	2: 83,765,901		probably benign	Het
Lama3	T	C	18: 12,441,107	V582A	probably benign	Het
Ldhd	G	T	8: 111,627,293	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,927,829		probably null	Het
Lrp5	T	C	19: 3,620,191	T638A	possibly damaging	Het
Lrrk1	A	C	7: 66,259,974	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,566,137	S21L	probably benign	Het
Mctp1	T	C	13: 76,825,273	V431A	probably benign	Het
Metap2	C	T	10: 93,871,483		probably null	Het
Mfsd2b	T	A	12: 4,870,536	K94*	probably null	Het
Micall2	A	G	5: 139,719,342	L79P	probably damaging	Het
Mucl2	T	C	15: 103,897,407	T95A	possibly damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,740,503	V1467L	probably damaging	Het
Nfic	G	T	10: 81,420,580	D105E	probably damaging	Het
Nrd1	T	A	4: 109,016,668	F227Y	probably benign	Het
Nrp2	A	T	1: 62,738,299	I88F	probably damaging	Het
Nup160	A	T	2: 90,700,543	H515L	probably benign	Het
Nup205	G	A	6: 35,225,982		probably null	Het
Oas1g	G	A	5: 120,882,006	T179I	probably benign	Het
Ogfr	A	T	2: 180,594,750	E376V	probably damaging	Het
Olfr1212	T	G	2: 88,959,043	Y192*	probably null	Het
Olfr1241	A	T	2: 89,482,511	V208D	possibly damaging	Het
Olfr166	T	G	16: 19,487,628	S263R	probably benign	Het
Olfr478	C	T	7: 108,032,388		probably null	Het
Olfr646	G	T	7: 104,106,689	V137F	possibly damaging	Het
Pard3b	T	C	1: 62,345,029	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,478,089	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,251,666	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,523,341	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,887,593		probably benign	Het
Ptprg	A	T	14: 12,190,767	I818F	probably benign	Het
Ralgapb	A	G	2: 158,462,253	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,372,115	I127M	probably damaging	Het
Rtp2	T	C	16: 23,927,470	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,687,572		probably benign	Het
Sf3b3	A	T	8: 110,837,374	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,085,627		probably null	Het
Shkbp1	A	T	7: 27,345,326	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,322,260	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,733,199	S332P	probably damaging	Het
Slit1	C	A	19: 41,608,384	C1092F	probably damaging	Het
Stard9	A	G	2: 120,703,197	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,469,592	V185A	possibly damaging	Het
Taar9	A	T	10: 24,109,484	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,988	E102G	probably damaging	Het
Tex44	A	G	1: 86,427,112	N248D	probably benign	Het
Tmem63b	C	G	17: 45,678,978	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,850,157	V781I	probably benign	Het
Tonsl	C	T	15: 76,636,561		probably null	Het
Ttc6	A	G	12: 57,674,677	K984R	possibly damaging	Het
Usp34	A	G	11: 23,441,171	E2263G	probably damaging	Het
Usp8	A	G	2: 126,754,927	K875E	probably damaging	Het
Vapb	C	T	2: 173,762,112		probably benign	Het
Vmn1r223	A	G	13: 23,249,868	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,293,662	V796I	probably damaging	Het
Wdr90	A	T	17: 25,854,053	V856D	probably damaging	Het
Wnk2	T	A	13: 49,082,095	T615S	probably damaging	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
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'- ACACAGTCGTTAAACCACTGGAAGC -3'

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

Posted On

2014-05-23