Mutagenetix > Incidental Mutations

Incidental Mutation 'R0540:Dlg1'

49866

Institutional Source

Beutler Lab

Gene Symbol

Dlg1

Ensembl Gene

ENSMUSG00000022770

Gene Name

discs large MAGUK scaffold protein 1

Synonyms

Dlgh1, B130052P05Rik, SAP97

MMRRC Submission

038732-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0540 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31663443-31875129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 31838174 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 596 (V596I)

Ref Sequence

ENSEMBL: ENSMUSP00000023454 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023454
AA Change: V596I

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023454
Gene: ENSMUSG00000022770
AA Change: V596I

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

possibly damaging
Transcript: ENSMUST00000064477
AA Change: V629I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064280
Gene: ENSMUSG00000022770
AA Change: V629I

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

possibly damaging
Transcript: ENSMUST00000100001
AA Change: V629I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097581
Gene: ENSMUSG00000022770
AA Change: V629I

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

possibly damaging
Transcript: ENSMUST00000115196
AA Change: V546I

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110850
Gene: ENSMUSG00000022770
AA Change: V546I

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

possibly damaging
Transcript: ENSMUST00000115201
AA Change: V629I

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110855
Gene: ENSMUSG00000022770
AA Change: V629I

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

possibly damaging
Transcript: ENSMUST00000115205
AA Change: V629I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110859
Gene: ENSMUSG00000022770
AA Change: V629I

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

unknown
Transcript: ENSMUST00000131136
AA Change: V324I

SMART Domains

Protein: ENSMUSP00000115954
Gene: ENSMUSG00000022770
AA Change: V324I

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: ENSMUST00000137322

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147382

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.7%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 60,019,206	T199A	possibly damaging	Het
Als2cl	C	A	9: 110,895,784	Y775*	probably null	Het
Ankhd1	G	T	18: 36,640,280	V59F	probably damaging	Het
Ano4	T	A	10: 89,023,944	I395F	probably benign	Het
Apcdd1	A	G	18: 62,951,896	N388S	possibly damaging	Het
Arl9	A	G	5: 77,007,271	Y83C	possibly damaging	Het
Armc2	T	A	10: 41,922,695	H706L	probably benign	Het
Arrb1	T	C	7: 99,588,196		probably null	Het
Atxn1	G	A	13: 45,557,530	S642L	probably damaging	Het
Bmp8a	A	G	4: 123,315,930	Y322H	probably damaging	Het
Btbd3	C	T	2: 138,283,816	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193	I343T	probably benign	Het
Capn2	A	T	1: 182,492,184	Y146*	probably null	Het
Ccdc42	C	T	11: 68,597,710	Q312*	probably null	Het
Cd209e	T	C	8: 3,851,265	K130E	probably benign	Het
Chd3	T	C	11: 69,344,358	D2054G	probably damaging	Het
Chrna1	T	C	2: 73,571,471	N161S	probably damaging	Het
Clp1	C	T	2: 84,725,591	A182T	possibly damaging	Het
Cpsf7	G	T	19: 10,533,318	E135*	probably null	Het
Csf2rb2	T	C	15: 78,287,908	Y325C	probably benign	Het
Cspg5	T	C	9: 110,247,392		probably null	Het
Ctnna2	T	C	6: 76,902,430	T824A	probably benign	Het
Cyp2b13	G	A	7: 26,081,711	V183I	probably benign	Het
D430041D05Rik	C	T	2: 104,233,445	R1354H	probably damaging	Het
Ddx24	A	G	12: 103,419,067	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,542,562	Y43*	probably null	Het
Dnah11	A	C	12: 118,082,511	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,720,788	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480	S3152A	probably benign	Het
Edn3	C	A	2: 174,760,974	P3Q	probably damaging	Het
Eif2a	G	A	3: 58,555,652		probably null	Het
Emb	G	A	13: 117,232,750	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,099,495	C397S	probably damaging	Het
Exo5	A	G	4: 120,921,981	V229A	probably damaging	Het
Fga	G	A	3: 83,028,562	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,645,359	F34L	probably benign	Het
Fsd2	T	A	7: 81,545,017	D466V	probably damaging	Het
Gcn1l1	T	C	5: 115,588,956	V624A	probably benign	Het
Git2	A	G	5: 114,748,274	F336L	probably damaging	Het
Greb1	T	A	12: 16,682,193	Y1589F	probably damaging	Het
H2-K1	G	T	17: 33,999,500	D127E	probably damaging	Het
Ints8	A	G	4: 11,252,926	V52A	possibly damaging	Het
Kifc1	G	A	17: 33,886,647	T62I	probably damaging	Het
Klhl6	C	A	16: 19,957,014	D265Y	possibly damaging	Het
Kmt5a	T	A	5: 124,451,310	N190K	probably damaging	Het
Lce6a	A	T	3: 92,620,328	H57Q	probably benign	Het
Lipo3	A	T	19: 33,559,567	I251K	possibly damaging	Het
Lnpep	A	T	17: 17,538,554	F843I	probably damaging	Het
Lrrc45	C	T	11: 120,715,162	R99*	probably null	Het
Lrrtm1	C	A	6: 77,244,628	A356E	probably damaging	Het
Map3k1	A	C	13: 111,763,510	H493Q	probably benign	Het
Mcm4	A	T	16: 15,632,115		probably null	Het
Mkl2	A	G	16: 13,381,601	E106G	probably damaging	Het
Mllt3	G	A	4: 87,841,044	P256S	possibly damaging	Het
Myo7a	T	A	7: 98,071,946	T1271S	probably damaging	Het
Ncan	C	A	8: 70,115,159	R101L	possibly damaging	Het
Ndufaf7	A	G	17: 78,946,456	D361G	probably benign	Het
Neurod6	C	T	6: 55,679,587	A22T	probably benign	Het
Nexn	T	A	3: 152,248,242	K192*	probably null	Het
Nipsnap2	A	T	5: 129,754,845	Y234F	probably damaging	Het
Nlrp10	T	C	7: 108,924,285	K663E	probably benign	Het
Nprl2	A	T	9: 107,545,298	Y329F	possibly damaging	Het
Nr2f2	C	A	7: 70,354,712	R264L	probably damaging	Het
Nsun7	A	T	5: 66,283,634	K366I	probably damaging	Het
Nup35	T	A	2: 80,642,640	M19K	probably benign	Het
Olfr1364	T	A	13: 21,573,778	Y226F	probably benign	Het
Olfr1378	C	A	11: 50,969,843	A275D	possibly damaging	Het
Olfr17	T	A	7: 107,097,726	I87K	probably benign	Het
Olfr266	A	T	3: 106,822,513	F15L	probably damaging	Het
Olfr312	T	A	11: 58,831,972	S273T	probably damaging	Het
Olfr470	A	G	7: 107,845,569	S55P	probably damaging	Het
Olfr56	C	G	11: 49,134,722	H177D	probably damaging	Het
Patl2	T	C	2: 122,126,669	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,145,889	I641V	probably benign	Het
Peli3	T	C	19: 4,941,911	M1V	probably null	Het
Pex16	T	A	2: 92,375,637	L25*	probably null	Het
Plekhn1	C	A	4: 156,222,747	A449S	possibly damaging	Het
Pot1b	A	T	17: 55,665,765	I469N	probably damaging	Het
Prdx6	A	C	1: 161,251,103	L5W	probably damaging	Het
Prrc1	G	A	18: 57,374,550	V259I	possibly damaging	Het
Prss38	T	C	11: 59,375,543	S30G	possibly damaging	Het
Rgs6	C	A	12: 83,059,804	Y151*	probably null	Het
Ripk4	A	C	16: 97,744,175	L361R	probably damaging	Het
Serpinb3d	C	T	1: 107,079,232	D249N	probably benign	Het
Skint10	A	T	4: 112,773,027		probably null	Het
Smg7	A	T	1: 152,855,962	N349K	probably benign	Het
Sohlh2	C	A	3: 55,207,683	S363Y	probably damaging	Het
Srsf10	A	G	4: 135,863,868	T210A	possibly damaging	Het
Synpo2l	A	T	14: 20,660,680	M624K	probably damaging	Het
Thsd7a	T	A	6: 12,331,542		probably null	Het
Tnc	A	T	4: 64,020,455	V49E	probably damaging	Het
Tnik	A	C	3: 28,650,159	K989T	probably damaging	Het
Tnxb	T	A	17: 34,671,918	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,568,759		probably null	Het
Tsc2	A	T	17: 24,621,712	V391E	probably damaging	Het
Ttll5	T	C	12: 85,933,676		probably null	Het
Usp28	A	G	9: 49,024,060	I104V	probably benign	Het
Vmn1r64	A	G	7: 5,884,097	L149S	probably damaging	Het
Yme1l1	T	A	2: 23,192,515	M506K	possibly damaging	Het
Zfp280d	T	A	9: 72,307,965	F98I	probably damaging	Het
Zfp62	C	A	11: 49,215,400	T106K	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
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'- ATTCAACACAGCAATTCCCAGTCTCA -3'
(R):5'- cacacacacacccacCCATAGTTT -3'

Sequencing Primer
(F):5'- CTTAGACTGTTTCCATTACAGAGTG -3'
(R):5'- ccaacatctccccattcctc -3'

Posted On

2013-06-12