Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00780:Dag1'

10056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dag1

Ensembl Gene

ENSMUSG00000039952

Gene Name

dystroglycan 1

Synonyms

D9Wsu13e, dystrophin associated glycoprotein 1, beta-dystroglycan, DG, alpha-dystroglycan

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.927) question?

Stock #

IGL00780

Quality Score

Status

Chromosome

Chromosomal Location

108204634-108263958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108209619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 108 (W108R)

Ref Sequence

ENSEMBL: ENSMUSP00000142109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080435] [ENSMUST00000166905] [ENSMUST00000171412] [ENSMUST00000191899]

AlphaFold

Q62165

Predicted Effect

probably damaging
Transcript: ENSMUST00000080435
AA Change: W108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: W108R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CADG	60	161	1.43e-11	SMART
low complexity region	338	351	N/A	INTRINSIC
low complexity region	409	465	N/A	INTRINSIC
CADG	496	600	4.74e-26	SMART
Pfam:DAG1	604	893	1.1e-159	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166905
AA Change: W108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: W108R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CADG	60	161	1.43e-11	SMART
low complexity region	338	351	N/A	INTRINSIC
low complexity region	409	465	N/A	INTRINSIC
CADG	496	600	4.74e-26	SMART
Pfam:DAG1	604	893	1.5e-159	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171412
AA Change: W108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: W108R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CADG	60	161	1.43e-11	SMART
low complexity region	338	351	N/A	INTRINSIC
low complexity region	409	465	N/A	INTRINSIC
CADG	496	600	4.74e-26	SMART
Pfam:DAG1	604	893	1.1e-159	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000191899
AA Change: W108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: W108R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CADG	60	161	1.43e-11	SMART
low complexity region	338	351	N/A	INTRINSIC
low complexity region	409	465	N/A	INTRINSIC
CADG	496	600	4.74e-26	SMART
Pfam:DAG1	604	893	1.1e-159	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. A complete lack of the encoded protein in mice results in embryonic lethality due to the disorganization of Reichert's membrane. Chimeric mice deficient in the encoded protein overcome embryonic lethality but develop a progressive muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mutant embryos show gross abnormalities, particularly defective Reichert's membrane by 6.5 days, indicating a possible role for this gene product in basement membrane organization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,422,367	T355A	probably damaging	Het
Abi3bp	A	G	16: 56,602,805	D440G	probably null	Het
Acvrl1	T	A	15: 101,137,367	F258Y	probably damaging	Het
Ano1	A	G	7: 144,655,630	S278P	probably damaging	Het
AW146154	T	C	7: 41,480,459	Y411C	probably damaging	Het
Blnk	T	A	19: 40,934,446	K412M	probably benign	Het
Clpb	C	T	7: 101,778,608	R387*	probably null	Het
Dach1	A	T	14: 97,901,422	N528K	possibly damaging	Het
Fbn2	T	C	18: 58,095,988	T717A	probably damaging	Het
Fnbp1l	T	C	3: 122,549,249	D394G	possibly damaging	Het
Gaa	T	A	11: 119,274,291		probably null	Het
Gpr158	A	T	2: 21,826,818	K910*	probably null	Het
Grb14	G	A	2: 64,914,718	P99S	probably damaging	Het
Gtf2h2	T	C	13: 100,479,221	D264G	probably benign	Het
Heatr3	A	G	8: 88,170,940	I667V	probably benign	Het
Hsp90ab1	T	C	17: 45,569,564	N407S	probably damaging	Het
Htr2a	A	T	14: 74,706,205	L408F	possibly damaging	Het
Itgb5	G	A	16: 33,884,975	V212I	probably damaging	Het
Kmt2c	G	A	5: 25,311,051	T2598I	probably benign	Het
Lcorl	T	C	5: 45,747,295	N137S	probably damaging	Het
Lef1	T	C	3: 131,193,130	F212L	possibly damaging	Het
Map2k5	T	C	9: 63,281,077		probably benign	Het
Med15	G	A	16: 17,653,487	T642I	probably damaging	Het
Nasp	C	A	4: 116,603,999	E274*	probably null	Het
Nup210l	A	T	3: 90,190,849		probably benign	Het
Pgghg	T	C	7: 140,945,351		probably null	Het
Plpp1	A	G	13: 112,851,506	I54M	probably damaging	Het
Poldip3	C	T	15: 83,138,479	G35R	probably damaging	Het
Ppig	A	T	2: 69,732,924	E81D	possibly damaging	Het
Ptpn21	G	T	12: 98,680,371	T999K	probably damaging	Het
Rad9b	T	C	5: 122,344,247	I142V	probably benign	Het
Ralgps1	A	T	2: 33,273,627	H139Q	probably damaging	Het
Rdh16f2	T	C	10: 127,875,092		probably null	Het
Sema3d	G	A	5: 12,524,326	R265Q	probably damaging	Het
Svs1	A	G	6: 48,987,739	D227G	probably damaging	Het
Tdp1	T	C	12: 99,893,648	V198A	possibly damaging	Het
Trim43c	A	T	9: 88,841,856	D145V	probably benign	Het
Trpc4	C	T	3: 54,302,175	P654S	probably damaging	Het
Yy1	T	G	12: 108,815,537	I376S	probably damaging	Het
Zfp773	T	A	7: 7,133,114	Q161L	probably benign	Het

Other mutations in Dag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Dag1	APN	9	108209288	missense	probably damaging	0.99
IGL01488:Dag1	APN	9	108208303	missense	probably benign	0.33
IGL01843:Dag1	APN	9	108208082	missense	possibly damaging	0.92
IGL02140:Dag1	APN	9	108218192	missense	probably damaging	1.00
IGL02980:Dag1	UTSW	9	108218038	missense	probably benign	0.02
R0037:Dag1	UTSW	9	108207353	missense	probably damaging	0.99
R0172:Dag1	UTSW	9	108208832	missense	possibly damaging	0.58
R0513:Dag1	UTSW	9	108208485	missense	possibly damaging	0.93
R1715:Dag1	UTSW	9	108208715	missense	possibly damaging	0.92
R2328:Dag1	UTSW	9	108209252	missense	probably damaging	0.99
R2337:Dag1	UTSW	9	108207397	nonsense	probably null
R3765:Dag1	UTSW	9	108208199	missense	probably damaging	1.00
R4478:Dag1	UTSW	9	108208730	missense	probably damaging	1.00
R5000:Dag1	UTSW	9	108208017	missense	probably benign
R5127:Dag1	UTSW	9	108207572	missense	possibly damaging	0.86
R5235:Dag1	UTSW	9	108207698	missense	probably damaging	0.98
R5265:Dag1	UTSW	9	108207699	missense	possibly damaging	0.93
R5315:Dag1	UTSW	9	108209117	missense	probably damaging	1.00
R5620:Dag1	UTSW	9	108209015	missense	probably damaging	1.00
R5696:Dag1	UTSW	9	108209447	missense	probably benign	0.09
R5731:Dag1	UTSW	9	108218111	missense	probably benign
R6382:Dag1	UTSW	9	108208137	missense	possibly damaging	0.83
R6652:Dag1	UTSW	9	108209090	missense	probably damaging	1.00
R6757:Dag1	UTSW	9	108218017	missense	probably damaging	0.99
R6870:Dag1	UTSW	9	108209258	missense	probably damaging	1.00
R7316:Dag1	UTSW	9	108209502	missense	probably benign	0.00
R7343:Dag1	UTSW	9	108209093	missense	possibly damaging	0.88
R7543:Dag1	UTSW	9	108218081	missense	probably benign
R7733:Dag1	UTSW	9	108208848	missense	probably benign	0.33
R9127:Dag1	UTSW	9	108208535	nonsense	probably null
R9193:Dag1	UTSW	9	108208268	missense	possibly damaging	0.96
Z1088:Dag1	UTSW	9	108208668	missense	possibly damaging	0.85

Posted On

2012-12-06