Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02048:Dlg5'

185001

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02048

Quality Score

Status

Chromosome

Chromosomal Location

24184021-24295988 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24222271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 480 (I480N)

Ref Sequence

ENSEMBL: ENSMUSP00000087879 (fasta)

Gene Model

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

AlphaFold

E9Q9R9

Predicted Effect

probably benign
Transcript: ENSMUST00000042009
AA Change: I126N

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000044852
Gene: ENSMUSG00000021782
AA Change: I126N

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

possibly damaging
Transcript: ENSMUST00000073687
AA Change: I457N

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073367
Gene: ENSMUSG00000021782
AA Change: I457N

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

possibly damaging
Transcript: ENSMUST00000090398
AA Change: I480N

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000087879
Gene: ENSMUSG00000021782
AA Change: I480N

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	T	4: 53,069,831 (GRCm39)	D1288N	probably damaging	Het
Abcc1	T	C	16: 14,229,383 (GRCm39)	F372L	probably damaging	Het
Adcy2	G	T	13: 69,036,186 (GRCm39)	N158K	possibly damaging	Het
Apba1	A	G	19: 23,915,000 (GRCm39)		probably null	Het
Arap3	T	C	18: 38,130,032 (GRCm39)	E43G	possibly damaging	Het
Bet1	A	T	6: 4,082,456 (GRCm39)		probably null	Het
Blm	A	G	7: 80,152,709 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,681,379 (GRCm39)	I384V	probably benign	Het
Cyp3a13	T	C	5: 137,917,257 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,394,917 (GRCm39)	K538R	probably benign	Het
Flna	G	T	X: 73,272,106 (GRCm39)	T2008K	probably benign	Het
Hc	T	A	2: 34,886,039 (GRCm39)	Q1388L	probably benign	Het
Ifitm1	T	C	7: 140,548,205 (GRCm39)	S13P	probably benign	Het
Il1rapl2	A	G	X: 137,690,398 (GRCm39)	I288V	probably benign	Het
Il31	C	T	5: 123,618,553 (GRCm39)	V157M	possibly damaging	Het
N4bp2l1	A	G	5: 150,500,103 (GRCm39)		probably null	Het
Nell1	T	C	7: 49,869,355 (GRCm39)	I210T	probably damaging	Het
Or52b3	T	C	7: 102,204,090 (GRCm39)	Y200H	probably damaging	Het
Or7e176	T	A	9: 20,171,784 (GRCm39)	I216N	possibly damaging	Het
Phf1	A	G	17: 27,153,515 (GRCm39)		probably benign	Het
Phf10	G	A	17: 15,165,411 (GRCm39)	P482S	probably benign	Het
Ppp6r3	T	G	19: 3,523,848 (GRCm39)	M522L	possibly damaging	Het
Qtrt1	T	C	9: 21,328,651 (GRCm39)	L205P	probably damaging	Het
Vmn2r11	T	C	5: 109,202,658 (GRCm39)	I140V	probably benign	Het
Xylt2	C	T	11: 94,557,171 (GRCm39)	E107K	possibly damaging	Het
Zfp512b	A	T	2: 181,231,715 (GRCm39)	F155Y	possibly damaging	Het
Zfyve27	A	G	19: 42,174,296 (GRCm39)	D314G	probably damaging	Het

Other mutations in Dlg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Dlg5	APN	14	24,241,229 (GRCm39)	missense	probably damaging	0.99
IGL00164:Dlg5	APN	14	24,208,532 (GRCm39)	missense	possibly damaging	0.89
IGL00767:Dlg5	APN	14	24,215,353 (GRCm39)	missense	probably damaging	1.00
IGL01284:Dlg5	APN	14	24,196,265 (GRCm39)	missense	probably damaging	1.00
IGL01328:Dlg5	APN	14	24,252,419 (GRCm39)	missense	probably damaging	0.98
IGL01532:Dlg5	APN	14	24,208,660 (GRCm39)	missense	probably benign
IGL01621:Dlg5	APN	14	24,198,289 (GRCm39)	missense	probably damaging	1.00
IGL01649:Dlg5	APN	14	24,188,759 (GRCm39)	missense	probably damaging	1.00
IGL01733:Dlg5	APN	14	24,220,517 (GRCm39)	missense	probably damaging	1.00
IGL02103:Dlg5	APN	14	24,194,414 (GRCm39)	missense	probably damaging	1.00
IGL02138:Dlg5	APN	14	24,208,419 (GRCm39)	missense	probably benign
IGL02146:Dlg5	APN	14	24,252,429 (GRCm39)	missense	probably damaging	0.99
IGL02392:Dlg5	APN	14	24,200,277 (GRCm39)	missense	probably damaging	1.00
IGL02427:Dlg5	APN	14	24,216,275 (GRCm39)	missense	probably damaging	1.00
IGL02643:Dlg5	APN	14	24,241,250 (GRCm39)	missense	probably damaging	1.00
IGL02649:Dlg5	APN	14	24,196,319 (GRCm39)	missense	probably damaging	0.96
IGL02933:Dlg5	APN	14	24,208,567 (GRCm39)	missense	probably benign	0.06
IGL02965:Dlg5	APN	14	24,222,091 (GRCm39)	missense	probably damaging	1.00
IGL02988:Dlg5	APN	14	24,216,323 (GRCm39)	missense	probably damaging	1.00
IGL03351:Dlg5	APN	14	24,220,522 (GRCm39)	missense	probably benign	0.03
legerdemain	UTSW	14	24,214,615 (GRCm39)	missense	probably damaging	1.00
R0123:Dlg5	UTSW	14	24,197,274 (GRCm39)	missense	probably benign
R0131:Dlg5	UTSW	14	24,188,717 (GRCm39)	missense	probably damaging	1.00
R0709:Dlg5	UTSW	14	24,196,323 (GRCm39)	missense	probably damaging	1.00
R0920:Dlg5	UTSW	14	24,226,465 (GRCm39)	missense	probably damaging	1.00
R0924:Dlg5	UTSW	14	24,185,645 (GRCm39)	missense	probably damaging	1.00
R0930:Dlg5	UTSW	14	24,185,645 (GRCm39)	missense	probably damaging	1.00
R0981:Dlg5	UTSW	14	24,204,699 (GRCm39)	missense	probably damaging	1.00
R1402:Dlg5	UTSW	14	24,226,676 (GRCm39)	missense	probably benign	0.06
R1402:Dlg5	UTSW	14	24,226,676 (GRCm39)	missense	probably benign	0.06
R1438:Dlg5	UTSW	14	24,204,673 (GRCm39)	missense	possibly damaging	0.94
R1449:Dlg5	UTSW	14	24,185,711 (GRCm39)	missense	possibly damaging	0.82
R1465:Dlg5	UTSW	14	24,204,764 (GRCm39)	splice site	probably null
R1465:Dlg5	UTSW	14	24,204,764 (GRCm39)	splice site	probably null
R1543:Dlg5	UTSW	14	24,194,516 (GRCm39)	missense	probably damaging	1.00
R1824:Dlg5	UTSW	14	24,199,512 (GRCm39)	missense	probably benign	0.28
R1899:Dlg5	UTSW	14	24,198,368 (GRCm39)	missense	probably damaging	1.00
R1920:Dlg5	UTSW	14	24,226,639 (GRCm39)	missense	probably damaging	1.00
R1921:Dlg5	UTSW	14	24,226,639 (GRCm39)	missense	probably damaging	1.00
R1951:Dlg5	UTSW	14	24,206,537 (GRCm39)	splice site	probably benign
R1968:Dlg5	UTSW	14	24,214,187 (GRCm39)	nonsense	probably null
R2049:Dlg5	UTSW	14	24,204,715 (GRCm39)	missense	probably damaging	1.00
R2070:Dlg5	UTSW	14	24,186,703 (GRCm39)	missense	probably damaging	1.00
R2117:Dlg5	UTSW	14	24,227,826 (GRCm39)	nonsense	probably null
R2139:Dlg5	UTSW	14	24,220,612 (GRCm39)	missense	probably damaging	1.00
R2153:Dlg5	UTSW	14	24,187,225 (GRCm39)	missense	probably damaging	1.00
R2283:Dlg5	UTSW	14	24,208,731 (GRCm39)	missense	probably benign	0.00
R2293:Dlg5	UTSW	14	24,208,180 (GRCm39)	missense	probably benign
R2356:Dlg5	UTSW	14	24,220,496 (GRCm39)	critical splice donor site	probably null
R2362:Dlg5	UTSW	14	24,208,755 (GRCm39)	missense	probably benign	0.04
R2513:Dlg5	UTSW	14	24,214,593 (GRCm39)	missense	probably damaging	1.00
R3084:Dlg5	UTSW	14	24,216,258 (GRCm39)	missense	probably damaging	1.00
R3086:Dlg5	UTSW	14	24,216,258 (GRCm39)	missense	probably damaging	1.00
R3750:Dlg5	UTSW	14	24,215,328 (GRCm39)	missense	probably damaging	1.00
R3780:Dlg5	UTSW	14	24,240,378 (GRCm39)	unclassified	probably benign
R3782:Dlg5	UTSW	14	24,240,378 (GRCm39)	unclassified	probably benign
R3828:Dlg5	UTSW	14	24,196,226 (GRCm39)	missense	probably damaging	0.99
R4079:Dlg5	UTSW	14	24,198,328 (GRCm39)	missense	possibly damaging	0.94
R4393:Dlg5	UTSW	14	24,228,057 (GRCm39)	critical splice acceptor site	probably null
R4615:Dlg5	UTSW	14	24,208,236 (GRCm39)	missense	probably damaging	1.00
R4664:Dlg5	UTSW	14	24,187,249 (GRCm39)	missense	possibly damaging	0.90
R4712:Dlg5	UTSW	14	24,228,051 (GRCm39)	missense	possibly damaging	0.94
R4796:Dlg5	UTSW	14	24,194,451 (GRCm39)	missense	probably damaging	1.00
R4801:Dlg5	UTSW	14	24,204,757 (GRCm39)	missense	probably damaging	1.00
R4802:Dlg5	UTSW	14	24,204,757 (GRCm39)	missense	probably damaging	1.00
R4946:Dlg5	UTSW	14	24,204,429 (GRCm39)	missense	probably damaging	0.99
R5022:Dlg5	UTSW	14	24,186,690 (GRCm39)	missense	probably damaging	1.00
R5023:Dlg5	UTSW	14	24,186,690 (GRCm39)	missense	probably damaging	1.00
R5057:Dlg5	UTSW	14	24,186,690 (GRCm39)	missense	probably damaging	1.00
R5234:Dlg5	UTSW	14	24,242,930 (GRCm39)	missense	probably damaging	0.98
R5561:Dlg5	UTSW	14	24,227,860 (GRCm39)	missense	probably benign	0.03
R5567:Dlg5	UTSW	14	24,242,981 (GRCm39)	nonsense	probably null
R5570:Dlg5	UTSW	14	24,242,981 (GRCm39)	nonsense	probably null
R5640:Dlg5	UTSW	14	24,220,529 (GRCm39)	missense	probably damaging	1.00
R5646:Dlg5	UTSW	14	24,208,767 (GRCm39)	missense	probably damaging	1.00
R5711:Dlg5	UTSW	14	24,200,716 (GRCm39)	missense	probably damaging	1.00
R5810:Dlg5	UTSW	14	24,196,322 (GRCm39)	missense	probably damaging	0.99
R5900:Dlg5	UTSW	14	24,199,515 (GRCm39)	missense	probably damaging	1.00
R5964:Dlg5	UTSW	14	24,214,157 (GRCm39)	missense	probably benign
R6190:Dlg5	UTSW	14	24,240,506 (GRCm39)	missense	probably damaging	0.99
R6240:Dlg5	UTSW	14	24,199,596 (GRCm39)	splice site	probably null
R6276:Dlg5	UTSW	14	24,214,636 (GRCm39)	missense	probably damaging	1.00
R6339:Dlg5	UTSW	14	24,208,128 (GRCm39)	missense	probably damaging	1.00
R6508:Dlg5	UTSW	14	24,188,774 (GRCm39)	missense	probably benign	0.45
R6527:Dlg5	UTSW	14	24,240,516 (GRCm39)	missense	possibly damaging	0.73
R6593:Dlg5	UTSW	14	24,200,720 (GRCm39)	missense	probably benign	0.01
R6687:Dlg5	UTSW	14	24,240,441 (GRCm39)	missense	probably damaging	1.00
R6965:Dlg5	UTSW	14	24,199,498 (GRCm39)	missense	probably damaging	1.00
R7051:Dlg5	UTSW	14	24,196,263 (GRCm39)	missense	possibly damaging	0.93
R7075:Dlg5	UTSW	14	24,227,865 (GRCm39)	missense	possibly damaging	0.49
R7149:Dlg5	UTSW	14	24,240,492 (GRCm39)	missense	probably benign	0.00
R7182:Dlg5	UTSW	14	24,294,924 (GRCm39)	missense
R7203:Dlg5	UTSW	14	24,188,723 (GRCm39)	missense	probably damaging	1.00
R7216:Dlg5	UTSW	14	24,186,706 (GRCm39)	nonsense	probably null
R7359:Dlg5	UTSW	14	24,214,615 (GRCm39)	missense	probably damaging	1.00
R7466:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7485:Dlg5	UTSW	14	24,227,907 (GRCm39)	missense	probably damaging	0.98
R7485:Dlg5	UTSW	14	24,198,390 (GRCm39)	missense	probably benign
R7629:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7666:Dlg5	UTSW	14	24,207,867 (GRCm39)	missense	probably damaging	1.00
R7804:Dlg5	UTSW	14	24,215,388 (GRCm39)	missense	possibly damaging	0.46
R7861:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7862:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7864:Dlg5	UTSW	14	24,295,280 (GRCm39)	missense	probably damaging	1.00
R7874:Dlg5	UTSW	14	24,185,687 (GRCm39)	missense	probably damaging	1.00
R7913:Dlg5	UTSW	14	24,187,192 (GRCm39)	splice site	probably null
R7981:Dlg5	UTSW	14	24,208,213 (GRCm39)	missense	probably benign
R8147:Dlg5	UTSW	14	24,208,395 (GRCm39)	missense	probably benign	0.07
R8204:Dlg5	UTSW	14	24,210,320 (GRCm39)	missense	probably damaging	1.00
R8206:Dlg5	UTSW	14	24,210,336 (GRCm39)	missense	possibly damaging	0.62
R8287:Dlg5	UTSW	14	24,214,453 (GRCm39)	missense	probably benign	0.40
R8296:Dlg5	UTSW	14	24,198,328 (GRCm39)	missense	possibly damaging	0.94
R8317:Dlg5	UTSW	14	24,241,298 (GRCm39)	missense	probably damaging	0.98
R8327:Dlg5	UTSW	14	24,196,388 (GRCm39)	missense	probably damaging	0.99
R8352:Dlg5	UTSW	14	24,241,261 (GRCm39)	missense	probably damaging	1.00
R8353:Dlg5	UTSW	14	24,208,213 (GRCm39)	missense	probably benign
R8409:Dlg5	UTSW	14	24,226,546 (GRCm39)	missense	probably damaging	1.00
R8452:Dlg5	UTSW	14	24,241,261 (GRCm39)	missense	probably damaging	1.00
R8453:Dlg5	UTSW	14	24,208,213 (GRCm39)	missense	probably benign
R8540:Dlg5	UTSW	14	24,208,767 (GRCm39)	missense	probably damaging	1.00
R8701:Dlg5	UTSW	14	24,226,768 (GRCm39)	missense	probably benign	0.04
R8925:Dlg5	UTSW	14	24,206,547 (GRCm39)	missense
R8927:Dlg5	UTSW	14	24,206,547 (GRCm39)	missense
R9025:Dlg5	UTSW	14	24,199,546 (GRCm39)	missense	probably benign	0.00
R9102:Dlg5	UTSW	14	24,199,567 (GRCm39)	missense	probably damaging	1.00
R9138:Dlg5	UTSW	14	24,295,376 (GRCm39)	missense	probably damaging	0.98
R9165:Dlg5	UTSW	14	24,196,309 (GRCm39)	missense	probably damaging	1.00
R9250:Dlg5	UTSW	14	24,240,543 (GRCm39)	missense	probably benign	0.07
R9267:Dlg5	UTSW	14	24,204,745 (GRCm39)	missense	probably damaging	1.00
R9269:Dlg5	UTSW	14	24,242,881 (GRCm39)	missense	probably damaging	0.99
R9291:Dlg5	UTSW	14	24,241,229 (GRCm39)	missense	probably damaging	0.99
R9387:Dlg5	UTSW	14	24,197,168 (GRCm39)	missense	probably damaging	0.99
R9729:Dlg5	UTSW	14	24,204,681 (GRCm39)	missense	probably benign	0.00
RF005:Dlg5	UTSW	14	24,208,561 (GRCm39)	nonsense	probably null
YA93:Dlg5	UTSW	14	24,205,201 (GRCm39)	unclassified	probably benign
Z1088:Dlg5	UTSW	14	24,208,162 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07