Mutagenetix > Incidental Mutation

Incidental Mutation 'R5265:Dag1'

401666

Institutional Source

Beutler Lab

Gene Symbol

Dag1

Ensembl Gene

ENSMUSG00000039952

Gene Name

dystroglycan 1

Synonyms

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

MMRRC Submission

042833-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R5265 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108204634-108263958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108207699 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 748 (Y748H)

Ref Sequence

ENSEMBL: ENSMUSP00000142109 (fasta)

Gene Model

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

AlphaFold

Q62165

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080435
AA Change: Y748H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: Y748H

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

possibly damaging
Transcript: ENSMUST00000166905
AA Change: Y748H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: Y748H

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

possibly damaging
Transcript: ENSMUST00000171412
AA Change: Y748H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: Y748H

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

possibly damaging
Transcript: ENSMUST00000191899
AA Change: Y748H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: Y748H

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

Meta Mutation Damage Score

0.8315

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	G	9: 57,258,894	W66R	probably damaging	Het
Adamts3	A	G	5: 89,861,552	V84A	possibly damaging	Het
Caap1	C	A	4: 94,501,228	E290*	probably null	Het
Cant1	G	A	11: 118,408,050	R296C	probably damaging	Het
Ccdc114	T	A	7: 45,947,435	D395E	probably damaging	Het
Cdh5	A	T	8: 104,142,739	H699L	probably benign	Het
Cfdp1	T	C	8: 111,830,985	T175A	probably benign	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Comtd1	G	A	14: 21,848,793	T27I	probably benign	Het
Copg1	T	A	6: 87,892,270	V155D	probably damaging	Het
Dmwd	T	A	7: 19,080,281	N285K	possibly damaging	Het
Dsp	A	G	13: 38,195,183	E1968G	possibly damaging	Het
Ednra	A	G	8: 77,667,375	I364T	probably damaging	Het
Elovl3	C	A	19: 46,134,681	T232K	probably damaging	Het
Ercc3	T	A	18: 32,254,243	I503N	probably damaging	Het
Ercc6	C	A	14: 32,569,623	A1008D	probably benign	Het
Gm10563	TTTC	TTTCATTC	4: 155,614,496		probably null	Het
H2-DMb2	G	T	17: 34,148,562	V117F	probably damaging	Het
Helt	A	T	8: 46,292,433	W138R	probably damaging	Het
Itga11	A	T	9: 62,737,412	H215L	probably benign	Het
Kcnn1	T	A	8: 70,854,653	I156F	probably benign	Het
Kdm1b	A	G	13: 47,062,969	N272D	probably benign	Het
Kdm2b	T	C	5: 122,878,588	T1161A	probably damaging	Het
Lin54	A	G	5: 100,485,519	L102P	probably damaging	Het
Mlh1	A	C	9: 111,271,523	M1R	probably null	Het
Naip2	G	A	13: 100,152,560	L1165F	probably damaging	Het
Nfkbiz	A	G	16: 55,819,641	S118P	probably damaging	Het
Nkx3-2	T	A	5: 41,761,848	M266L	probably benign	Het
Npr1	T	C	3: 90,457,002	E771G	probably benign	Het
Obox8	C	T	7: 14,332,029	R188H	probably benign	Het
Olfr187	A	T	16: 59,036,143	V198D	possibly damaging	Het
Olfr497	T	A	7: 108,423,402	V277E	possibly damaging	Het
Palm3	T	C	8: 84,021,530		probably null	Het
Palmd	A	T	3: 116,923,849	V333D	possibly damaging	Het
Pikfyve	A	G	1: 65,267,829	E1747G	possibly damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Ranbp3l	T	A	15: 9,007,203	F127I	probably benign	Het
Rsl1d1	A	G	16: 11,201,384	F97L	possibly damaging	Het
Scaper	A	G	9: 55,864,546	V362A	probably benign	Het
Scg5	A	T	2: 113,776,865	L192*	probably null	Het
Slc34a2	T	C	5: 53,061,434	I198T	probably damaging	Het
Slc45a3	T	A	1: 131,978,194	D318E	possibly damaging	Het
Sorl1	A	G	9: 42,106,516	M105T	possibly damaging	Het
St3gal5	T	A	6: 72,149,131	I320N	probably damaging	Het
Stx17	A	G	4: 48,183,470		probably benign	Het
Syt5	C	T	7: 4,541,075		probably null	Het
Thrap3	A	G	4: 126,167,640	S774P	probably damaging	Het
Tnc	A	T	4: 63,993,206	M1376K	probably benign	Het
Tnks1bp1	T	A	2: 85,062,754	D1008E	probably benign	Het
Trav7-1	G	T	14: 52,655,304	A105S	probably damaging	Het
Vmn1r28	T	A	6: 58,265,964	V264D	probably damaging	Het
Vmn1r44	T	C	6: 89,893,839	V46A	probably benign	Het
Vmn2r10	A	G	5: 108,995,720	I788T	probably damaging	Het
Vmn2r78	T	A	7: 86,920,124	I75N	probably damaging	Het
Zfp821	T	C	8: 109,724,359	M328T	probably damaging	Het
Zfp995	G	A	17: 21,880,623	P210L	possibly damaging	Het

Other mutations in Dag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Dag1	APN	9	108209288	missense	probably damaging	0.99
IGL00780:Dag1	APN	9	108209619	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGTCATCCAGCTCATCCG -3'
(R):5'- AGCAGATCATAGGGCTGAGC -3'

Sequencing Primer
(F):5'- TCATCCGCAAAGATGATAGGC -3'
(R):5'- AAATGGGAAGCCTCGTCCTG -3'

Posted On

2016-07-06