Mutagenetix > Incidental Mutation

Incidental Mutation 'R7316:Dag1'

567979

Institutional Source

Beutler Lab

Gene Symbol

Dag1

Ensembl Gene

ENSMUSG00000039952

Gene Name

dystroglycan 1

Synonyms

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

MMRRC Submission

045413-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R7316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108082060-108141176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108086701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 147 (S147T)

Ref Sequence

ENSEMBL: ENSMUSP00000079294 (fasta)

Gene Model

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

AlphaFold

Q62165

PDB Structure

Crystal Structure of a-dystroglycan [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000080435
AA Change: S147T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: S147T

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 benign
Transcript: ENSMUST00000166905
AA Change: S147T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: S147T

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 benign
Transcript: ENSMUST00000171412
AA Change: S147T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: S147T

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 benign
Transcript: ENSMUST00000191899
AA Change: S147T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: S147T

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,969,020 (GRCm39)	M214I	probably benign	Het
Aadat	G	T	8: 60,979,668 (GRCm39)	G177C	probably damaging	Het
Adam4	T	C	12: 81,466,498 (GRCm39)	I708V	probably benign	Het
Aip	T	C	19: 4,164,793 (GRCm39)	N264S	probably benign	Het
Alox8	A	T	11: 69,077,064 (GRCm39)	D505E	probably benign	Het
Ap3d1	A	T	10: 80,553,693 (GRCm39)	I518N	probably damaging	Het
Arf3	G	A	15: 98,638,874 (GRCm39)	Q128*	probably null	Het
Asph	A	G	4: 9,537,746 (GRCm39)	V344A	probably benign	Het
Birc6	A	T	17: 74,911,489 (GRCm39)	R1500S	probably damaging	Het
Bptf	G	A	11: 106,963,935 (GRCm39)	T1753I	probably damaging	Het
Bptf	A	T	11: 107,001,740 (GRCm39)	C457*	probably null	Het
Brpf3	T	A	17: 29,033,660 (GRCm39)	I568N	probably damaging	Het
Btnl4	G	C	17: 34,688,031 (GRCm39)	N582K	probably benign	Het
Camsap3	C	A	8: 3,654,648 (GRCm39)	P773T	possibly damaging	Het
Capsl	A	T	15: 9,461,888 (GRCm39)	I95L	probably benign	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cdan1	A	T	2: 120,558,813 (GRCm39)		probably null	Het
Chd3	A	T	11: 69,236,394 (GRCm39)	L1939Q	probably damaging	Het
Cngb3	A	T	4: 19,425,599 (GRCm39)	Y469F	probably benign	Het
Cp	T	C	3: 20,026,916 (GRCm39)	L448P	probably damaging	Het
Csnk1g2	T	C	10: 80,475,687 (GRCm39)	V418A	possibly damaging	Het
Dnajc25	T	A	4: 59,017,693 (GRCm39)	Y117*	probably null	Het
Dpysl2	A	T	14: 67,100,044 (GRCm39)	M64K	possibly damaging	Het
Dus3l	A	G	17: 57,072,551 (GRCm39)	H38R	possibly damaging	Het
Eme2	G	A	17: 25,113,840 (GRCm39)	R62W	probably damaging	Het
Enox1	A	T	14: 77,958,298 (GRCm39)	M616L	probably benign	Het
Epb41l4b	T	A	4: 57,019,867 (GRCm39)	T708S	probably benign	Het
Fat2	A	T	11: 55,176,893 (GRCm39)	I1534N	probably damaging	Het
Fer1l5	A	G	1: 36,457,197 (GRCm39)	T1649A	probably benign	Het
Fmo9	A	G	1: 166,491,215 (GRCm39)	V421A	probably benign	Het
Fsip2	A	C	2: 82,820,035 (GRCm39)	Y5256S	possibly damaging	Het
Gapvd1	G	A	2: 34,594,681 (GRCm39)	L804F	probably damaging	Het
Garin1a	A	G	6: 29,286,101 (GRCm39)	M187V	probably benign	Het
Gen1	A	G	12: 11,291,470 (GRCm39)	V838A	probably benign	Het
Gnptab	A	T	10: 88,236,572 (GRCm39)	N59I	probably damaging	Het
Grm5	A	G	7: 87,624,473 (GRCm39)	T347A	probably benign	Het
Gsdmc3	T	C	15: 63,730,251 (GRCm39)	N438D	possibly damaging	Het
Hmcn1	A	G	1: 150,608,697 (GRCm39)	L1495S	probably damaging	Het
Ift70a1	A	T	2: 75,811,201 (GRCm39)	L294Q	probably damaging	Het
Islr2	T	C	9: 58,105,250 (GRCm39)	E714G	probably damaging	Het
Larp4	A	T	15: 99,898,898 (GRCm39)	M430L	probably benign	Het
Lpcat2b	A	G	5: 107,580,979 (GRCm39)	I103V	not run	Het
Lrguk	C	T	6: 34,080,191 (GRCm39)	S1142F	unknown	Het
Lrit2	G	T	14: 36,790,815 (GRCm39)	V165F	probably damaging	Het
Mast3	T	A	8: 71,232,432 (GRCm39)	I1182F	probably damaging	Het
Mcm6	C	T	1: 128,287,245 (GRCm39)	D20N	probably damaging	Het
Mief1	A	G	15: 80,133,598 (GRCm39)	I218M	probably damaging	Het
Mmp2	A	G	8: 93,567,038 (GRCm39)	T453A	probably benign	Het
Ms4a18	T	A	19: 10,979,360 (GRCm39)	S219C	probably damaging	Het
Myo5c	A	T	9: 75,176,920 (GRCm39)	T622S	probably benign	Het
Neb	A	T	2: 52,161,450 (GRCm39)	M2114K	possibly damaging	Het
Nemp1	T	A	10: 127,525,212 (GRCm39)	L122*	probably null	Het
Nkx2-1	T	C	12: 56,581,583 (GRCm39)	N88S	probably benign	Het
Nr2c2	T	A	6: 92,131,444 (GRCm39)	C202S	probably damaging	Het
Ntsr1	A	C	2: 180,142,545 (GRCm39)	D112A	probably damaging	Het
Or14j3	A	G	17: 37,901,026 (GRCm39)	S73P	probably damaging	Het
Or56a41	A	T	7: 104,740,107 (GRCm39)	H246Q	probably damaging	Het
Or6n2	A	T	1: 173,897,727 (GRCm39)	I288F	probably benign	Het
Osbp2	C	A	11: 3,676,431 (GRCm39)	R73L	probably damaging	Het
Pbp2	T	A	6: 135,286,830 (GRCm39)	E172D	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,501 (GRCm39)	I634T	probably benign	Het
Pcnx1	T	C	12: 82,042,323 (GRCm39)	S38P	probably benign	Het
Phyh	A	T	2: 4,940,855 (GRCm39)	K252*	probably null	Het
Plcb3	C	T	19: 6,943,753 (GRCm39)		probably null	Het
Ppargc1b	T	C	18: 61,440,909 (GRCm39)	S670G	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Ptprc	T	C	1: 137,992,509 (GRCm39)	Y1067C	probably damaging	Het
Pwwp2b	A	C	7: 138,836,140 (GRCm39)	E527A	probably benign	Het
Pzp	T	C	6: 128,490,736 (GRCm39)	D409G	probably damaging	Het
Rbfox2	A	T	15: 77,016,929 (GRCm39)	N148K	possibly damaging	Het
Resf1	T	C	6: 149,228,136 (GRCm39)	L394P	probably damaging	Het
Rps24	T	C	14: 24,540,757 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,862,584 (GRCm39)	K202E	probably damaging	Het
Spata7	C	T	12: 98,624,871 (GRCm39)	R258W	probably damaging	Het
Spen	A	T	4: 141,204,365 (GRCm39)	S1421T	unknown	Het
Svep1	T	A	4: 58,068,763 (GRCm39)	I3008F	possibly damaging	Het
Tbc1d1	G	T	5: 64,492,620 (GRCm39)		probably null	Het
Thsd4	T	A	9: 59,894,642 (GRCm39)	H772L	probably benign	Het
Tle1	T	C	4: 72,036,529 (GRCm39)	I769V	probably benign	Het
Tm4sf19	T	A	16: 32,226,466 (GRCm39)	S127T	possibly damaging	Het
Tmprss9	C	A	10: 80,730,813 (GRCm39)	R780S	probably benign	Het
Tpp2	T	C	1: 44,009,591 (GRCm39)	V475A	probably benign	Het
Ttn	A	G	2: 76,692,509 (GRCm39)	V471A		Het
Ttn	A	T	2: 76,597,257 (GRCm39)	N19885K	probably damaging	Het
Tub	A	T	7: 108,629,378 (GRCm39)	T478S	possibly damaging	Het
Ube2q2l	T	C	6: 136,378,276 (GRCm39)	K185E	possibly damaging	Het
Vmn2r88	A	T	14: 51,651,712 (GRCm39)	Y342F		Het
Wdr18	C	A	10: 79,801,059 (GRCm39)	D157E	probably benign	Het
Xrra1	A	T	7: 99,525,423 (GRCm39)		probably null	Het
Zc3h4	G	C	7: 16,169,260 (GRCm39)	G1198A	unknown	Het
Zfp568	A	T	7: 29,721,681 (GRCm39)	I209F	possibly damaging	Het
Zfp787	C	A	7: 6,158,523 (GRCm39)		probably benign	Het
Zfp974	A	T	7: 27,609,863 (GRCm39)	Y621N	possibly damaging	Het
Zyg11b	A	G	4: 108,107,699 (GRCm39)	I493T	possibly damaging	Het

Other mutations in Dag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Dag1	APN	9	108,086,487 (GRCm39)	missense	probably damaging	0.99
IGL00780:Dag1	APN	9	108,086,818 (GRCm39)	missense	probably damaging	1.00
IGL01488:Dag1	APN	9	108,085,502 (GRCm39)	missense	probably benign	0.33
IGL01843:Dag1	APN	9	108,085,281 (GRCm39)	missense	possibly damaging	0.92
IGL02140:Dag1	APN	9	108,095,391 (GRCm39)	missense	probably damaging	1.00
IGL02980:Dag1	UTSW	9	108,095,237 (GRCm39)	missense	probably benign	0.02
R0037:Dag1	UTSW	9	108,084,552 (GRCm39)	missense	probably damaging	0.99
R0172:Dag1	UTSW	9	108,086,031 (GRCm39)	missense	possibly damaging	0.58
R0513:Dag1	UTSW	9	108,085,684 (GRCm39)	missense	possibly damaging	0.93
R1715:Dag1	UTSW	9	108,085,914 (GRCm39)	missense	possibly damaging	0.92
R2328:Dag1	UTSW	9	108,086,451 (GRCm39)	missense	probably damaging	0.99
R2337:Dag1	UTSW	9	108,084,596 (GRCm39)	nonsense	probably null
R3765:Dag1	UTSW	9	108,085,398 (GRCm39)	missense	probably damaging	1.00
R4478:Dag1	UTSW	9	108,085,929 (GRCm39)	missense	probably damaging	1.00
R5000:Dag1	UTSW	9	108,085,216 (GRCm39)	missense	probably benign
R5127:Dag1	UTSW	9	108,084,771 (GRCm39)	missense	possibly damaging	0.86
R5235:Dag1	UTSW	9	108,084,897 (GRCm39)	missense	probably damaging	0.98
R5265:Dag1	UTSW	9	108,084,898 (GRCm39)	missense	possibly damaging	0.93
R5315:Dag1	UTSW	9	108,086,316 (GRCm39)	missense	probably damaging	1.00
R5620:Dag1	UTSW	9	108,086,214 (GRCm39)	missense	probably damaging	1.00
R5696:Dag1	UTSW	9	108,086,646 (GRCm39)	missense	probably benign	0.09
R5731:Dag1	UTSW	9	108,095,310 (GRCm39)	missense	probably benign
R6382:Dag1	UTSW	9	108,085,336 (GRCm39)	missense	possibly damaging	0.83
R6652:Dag1	UTSW	9	108,086,289 (GRCm39)	missense	probably damaging	1.00
R6757:Dag1	UTSW	9	108,095,216 (GRCm39)	missense	probably damaging	0.99
R6870:Dag1	UTSW	9	108,086,457 (GRCm39)	missense	probably damaging	1.00
R7343:Dag1	UTSW	9	108,086,292 (GRCm39)	missense	possibly damaging	0.88
R7543:Dag1	UTSW	9	108,095,280 (GRCm39)	missense	probably benign
R7733:Dag1	UTSW	9	108,086,047 (GRCm39)	missense	probably benign	0.33
R9127:Dag1	UTSW	9	108,085,734 (GRCm39)	nonsense	probably null
R9193:Dag1	UTSW	9	108,085,467 (GRCm39)	missense	possibly damaging	0.96
Z1088:Dag1	UTSW	9	108,085,867 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CAGATCGATCCTTTGCTTTGGG -3'
(R):5'- ATGGTGATCATTTTAGGCCAGGC -3'

Sequencing Primer
(F):5'- CGATCCTTTGCTTTGGGGTCATC -3'
(R):5'- GCCAGGCCATGATGGTAAC -3'

Posted On

2019-06-26