Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03351:Dlg5'

419731

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dlg5

Ensembl Gene

ENSMUSG00000021782

Gene Name

discs large MAGUK scaffold protein 5

Synonyms

4933429D20Rik

Accession Numbers

Genbank: NM_001163513; MGI: 1918478

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

24133953-24245920 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24170454 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 575 (V575A)

Ref Sequence

ENSEMBL: ENSMUSP00000087879 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042009] [ENSMUST00000073687] [ENSMUST00000090398]

Predicted Effect

probably benign
Transcript: ENSMUST00000042009
AA Change: V221A

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

SMART Domains

Protein: ENSMUSP00000044852
Gene: ENSMUSG00000021782
AA Change: V221A

Domain	Start	End	E-Value	Type
coiled coil region	20	247	N/A	INTRINSIC
low complexity region	261	274	N/A	INTRINSIC
PDZ	279	356	2.02e-10	SMART
PDZ	364	447	9.5e-16	SMART
low complexity region	510	517	N/A	INTRINSIC
low complexity region	692	711	N/A	INTRINSIC
low complexity region	903	918	N/A	INTRINSIC
PDZ	1009	1080	2.1e-17	SMART
PDZ	1164	1236	2.97e-8	SMART
SH3	1250	1314	3.73e-7	SMART
low complexity region	1338	1358	N/A	INTRINSIC
GuKc	1375	1561	5.43e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000073687
AA Change: V552A

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

SMART Domains

Protein: ENSMUSP00000073367
Gene: ENSMUSG00000021782
AA Change: V552A

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	22	36	N/A	INTRINSIC
low complexity region	44	66	N/A	INTRINSIC
Pfam:Takusan	104	191	1.4e-27	PFAM
coiled coil region	308	578	N/A	INTRINSIC
low complexity region	592	605	N/A	INTRINSIC
PDZ	610	687	2.02e-10	SMART
PDZ	695	773	1.25e-15	SMART
low complexity region	836	843	N/A	INTRINSIC
low complexity region	1018	1037	N/A	INTRINSIC
low complexity region	1229	1244	N/A	INTRINSIC
PDZ	1335	1406	2.1e-17	SMART
PDZ	1490	1562	2.97e-8	SMART
SH3	1576	1640	3.73e-7	SMART
low complexity region	1664	1684	N/A	INTRINSIC
GuKc	1701	1887	5.43e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090398
AA Change: V575A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000087879
Gene: ENSMUSG00000021782
AA Change: V575A

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
low complexity region	22	36	N/A	INTRINSIC
low complexity region	44	66	N/A	INTRINSIC
low complexity region	109	123	N/A	INTRINSIC
Pfam:Takusan	128	213	6e-33	PFAM
coiled coil region	331	601	N/A	INTRINSIC
low complexity region	615	628	N/A	INTRINSIC
PDZ	633	710	2.02e-10	SMART
PDZ	718	796	1.25e-15	SMART
low complexity region	859	866	N/A	INTRINSIC
low complexity region	1041	1060	N/A	INTRINSIC
low complexity region	1252	1267	N/A	INTRINSIC
PDZ	1358	1429	2.1e-17	SMART
PDZ	1513	1585	2.97e-8	SMART
SH3	1599	1663	3.73e-7	SMART
low complexity region	1687	1707	N/A	INTRINSIC
GuKc	1724	1910	5.43e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224920

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit growth retardation, hydroencephaly, abnormal brain morphology, abnormal neurogenesis, kidney cysts, ureter defects, and abnormal kidney morphology. [provided by MGI curators]

Allele List at MGI

All alleles(19) : Targeted, other(1) Gene trapped(18)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958		noncoding transcript	Het
Coch	G	A	12: 51,603,206	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041	G4*	probably null	Het
Cts7	T	C	13: 61,356,603	R49G	probably damaging	Het
Ero1l	G	T	14: 45,294,533	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,429	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996		probably benign	Het
L1cam	T	C	X: 73,863,028	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342	I424V	probably benign	Het
Myh8	A	G	11: 67,303,913	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,364,187	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693	T73A	probably benign	Het
Pole	A	G	5: 110,301,998		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741		probably benign	Het
Serpina6	A	T	12: 103,646,913	I376N	probably damaging	Het
Setx	T	G	2: 29,161,799	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,188,761	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350		probably benign	Het
Zfp369	T	G	13: 65,296,153	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347	Y234C	probably damaging	Het

Other mutations in Dlg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Dlg5	APN	14	24191161	missense	probably damaging	0.99
IGL00164:Dlg5	APN	14	24158464	missense	possibly damaging	0.89
IGL00767:Dlg5	APN	14	24165285	missense	probably damaging	1.00
IGL01284:Dlg5	APN	14	24146197	missense	probably damaging	1.00
IGL01328:Dlg5	APN	14	24202351	missense	probably damaging	0.98
IGL01532:Dlg5	APN	14	24158592	missense	probably benign
IGL01621:Dlg5	APN	14	24148221	missense	probably damaging	1.00
IGL01649:Dlg5	APN	14	24138691	missense	probably damaging	1.00
IGL01733:Dlg5	APN	14	24170449	missense	probably damaging	1.00
IGL02048:Dlg5	APN	14	24172203	missense	possibly damaging	0.87
IGL02103:Dlg5	APN	14	24144346	missense	probably damaging	1.00
IGL02138:Dlg5	APN	14	24158351	missense	probably benign
IGL02146:Dlg5	APN	14	24202361	missense	probably damaging	0.99
IGL02392:Dlg5	APN	14	24150209	missense	probably damaging	1.00
IGL02427:Dlg5	APN	14	24166207	missense	probably damaging	1.00
IGL02643:Dlg5	APN	14	24191182	missense	probably damaging	1.00
IGL02649:Dlg5	APN	14	24146251	missense	probably damaging	0.96
IGL02933:Dlg5	APN	14	24158499	missense	probably benign	0.06
IGL02965:Dlg5	APN	14	24172023	missense	probably damaging	1.00
IGL02988:Dlg5	APN	14	24166255	missense	probably damaging	1.00
R0123:Dlg5	UTSW	14	24147206	missense	probably benign
R0131:Dlg5	UTSW	14	24138649	missense	probably damaging	1.00
R0709:Dlg5	UTSW	14	24146255	missense	probably damaging	1.00
R0920:Dlg5	UTSW	14	24176397	missense	probably damaging	1.00
R0924:Dlg5	UTSW	14	24135577	missense	probably damaging	1.00
R0930:Dlg5	UTSW	14	24135577	missense	probably damaging	1.00
R0981:Dlg5	UTSW	14	24154631	missense	probably damaging	1.00
R1402:Dlg5	UTSW	14	24176608	missense	probably benign	0.06
R1402:Dlg5	UTSW	14	24176608	missense	probably benign	0.06
R1438:Dlg5	UTSW	14	24154605	missense	possibly damaging	0.94
R1449:Dlg5	UTSW	14	24135643	missense	possibly damaging	0.82
R1465:Dlg5	UTSW	14	24154696	splice site	probably null
R1465:Dlg5	UTSW	14	24154696	splice site	probably null
R1543:Dlg5	UTSW	14	24144448	missense	probably damaging	1.00
R1824:Dlg5	UTSW	14	24149444	missense	probably benign	0.28
R1899:Dlg5	UTSW	14	24148300	missense	probably damaging	1.00
R1920:Dlg5	UTSW	14	24176571	missense	probably damaging	1.00
R1921:Dlg5	UTSW	14	24176571	missense	probably damaging	1.00
R1951:Dlg5	UTSW	14	24156469	splice site	probably benign
R1968:Dlg5	UTSW	14	24164119	nonsense	probably null
R2049:Dlg5	UTSW	14	24154647	missense	probably damaging	1.00
R2070:Dlg5	UTSW	14	24136635	missense	probably damaging	1.00
R2117:Dlg5	UTSW	14	24177758	nonsense	probably null
R2139:Dlg5	UTSW	14	24170544	missense	probably damaging	1.00
R2153:Dlg5	UTSW	14	24137157	missense	probably damaging	1.00
R2283:Dlg5	UTSW	14	24158663	missense	probably benign	0.00
R2293:Dlg5	UTSW	14	24158112	missense	probably benign
R2356:Dlg5	UTSW	14	24170428	critical splice donor site	probably null
R2362:Dlg5	UTSW	14	24158687	missense	probably benign	0.04
R2513:Dlg5	UTSW	14	24164525	missense	probably damaging	1.00
R3084:Dlg5	UTSW	14	24166190	missense	probably damaging	1.00
R3086:Dlg5	UTSW	14	24166190	missense	probably damaging	1.00
R3750:Dlg5	UTSW	14	24165260	missense	probably damaging	1.00
R3780:Dlg5	UTSW	14	24190310	unclassified	probably benign
R3782:Dlg5	UTSW	14	24190310	unclassified	probably benign
R3828:Dlg5	UTSW	14	24146158	missense	probably damaging	0.99
R4079:Dlg5	UTSW	14	24148260	missense	possibly damaging	0.94
R4393:Dlg5	UTSW	14	24177989	critical splice acceptor site	probably null
R4615:Dlg5	UTSW	14	24158168	missense	probably damaging	1.00
R4664:Dlg5	UTSW	14	24137181	missense	possibly damaging	0.90
R4712:Dlg5	UTSW	14	24177983	missense	possibly damaging	0.94
R4796:Dlg5	UTSW	14	24144383	missense	probably damaging	1.00
R4801:Dlg5	UTSW	14	24154689	missense	probably damaging	1.00
R4802:Dlg5	UTSW	14	24154689	missense	probably damaging	1.00
R4946:Dlg5	UTSW	14	24154361	missense	probably damaging	0.99
R5022:Dlg5	UTSW	14	24136622	missense	probably damaging	1.00
R5023:Dlg5	UTSW	14	24136622	missense	probably damaging	1.00
R5057:Dlg5	UTSW	14	24136622	missense	probably damaging	1.00
R5234:Dlg5	UTSW	14	24192862	missense	probably damaging	0.98
R5561:Dlg5	UTSW	14	24177792	missense	probably benign	0.03
R5567:Dlg5	UTSW	14	24192913	nonsense	probably null
R5570:Dlg5	UTSW	14	24192913	nonsense	probably null
R5640:Dlg5	UTSW	14	24170461	missense	probably damaging	1.00
R5646:Dlg5	UTSW	14	24158699	missense	probably damaging	1.00
R5711:Dlg5	UTSW	14	24150648	missense	probably damaging	1.00
R5810:Dlg5	UTSW	14	24146254	missense	probably damaging	0.99
R5900:Dlg5	UTSW	14	24149447	missense	probably damaging	1.00
R5964:Dlg5	UTSW	14	24164089	missense	probably benign
R6190:Dlg5	UTSW	14	24190438	missense	probably damaging	0.99
R6240:Dlg5	UTSW	14	24149528	intron	probably null
R6276:Dlg5	UTSW	14	24164568	missense	probably damaging	1.00
R6339:Dlg5	UTSW	14	24158060	missense	probably damaging	1.00
R6508:Dlg5	UTSW	14	24138706	missense	probably benign	0.45
R6527:Dlg5	UTSW	14	24190448	missense	possibly damaging	0.73
R6593:Dlg5	UTSW	14	24150652	missense	probably benign	0.01
R6687:Dlg5	UTSW	14	24190373	missense	probably damaging	1.00
R6965:Dlg5	UTSW	14	24149430	missense	probably damaging	1.00
R7051:Dlg5	UTSW	14	24146195	missense	possibly damaging	0.93
R7075:Dlg5	UTSW	14	24177797	missense	possibly damaging	0.49
R7149:Dlg5	UTSW	14	24190424	missense	probably benign	0.00
R7182:Dlg5	UTSW	14	24244856	missense
R7203:Dlg5	UTSW	14	24138655	missense	probably damaging	1.00
R7216:Dlg5	UTSW	14	24136638	nonsense	probably null
R7359:Dlg5	UTSW	14	24164547	missense	probably damaging	1.00
R7466:Dlg5	UTSW	14	24245212	missense	probably damaging	1.00
R7485:Dlg5	UTSW	14	24148322	missense	probably benign
R7485:Dlg5	UTSW	14	24177839	missense	probably damaging	0.98
R7629:Dlg5	UTSW	14	24245212	missense	probably damaging	1.00
R7666:Dlg5	UTSW	14	24157799	missense	probably damaging	1.00
YA93:Dlg5	UTSW	14	24155133	unclassified	probably benign
Z1088:Dlg5	UTSW	14	24158094	missense	probably damaging	1.00

Posted On

2016-08-02