Mutagenetix > Incidental Mutation

Incidental Mutation 'R0513:Dag1'

48018

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

038707-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R0513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108082060-108141176 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108085684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 486 (P486S)

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: P486S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079294
Gene: ENSMUSG00000039952
AA Change: P486S

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: P486S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128531
Gene: ENSMUSG00000039952
AA Change: P486S

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: P486S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130626
Gene: ENSMUSG00000039952
AA Change: P486S

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: P486S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142109
Gene: ENSMUSG00000039952
AA Change: P486S

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

0.2863

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.6%
20x: 92.9%

Validation Efficiency

99% (122/123)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,606,195 (GRCm39)	T146A	probably benign	Het
Abcg4	A	G	9: 44,192,984 (GRCm39)	S121P	possibly damaging	Het
Actr2	T	C	11: 20,030,124 (GRCm39)	T212A	probably damaging	Het
Adcy10	T	A	1: 165,347,088 (GRCm39)	D368E	probably benign	Het
Albfm1	A	T	5: 90,725,786 (GRCm39)	T333S	probably benign	Het
Anapc15	T	C	7: 101,547,747 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,256,678 (GRCm39)	R67G	probably benign	Het
Aox4	A	G	1: 58,286,459 (GRCm39)	D697G	probably damaging	Het
Arhgap42	A	T	9: 9,005,766 (GRCm39)	S755T	probably benign	Het
Atm	A	G	9: 53,415,248 (GRCm39)	V881A	probably benign	Het
Cdkal1	C	T	13: 29,809,948 (GRCm39)		probably benign	Het
Cfap20dc	A	C	14: 8,536,609 (GRCm38)	D199E	probably damaging	Het
Cfap61	C	A	2: 145,877,215 (GRCm39)	N491K	possibly damaging	Het
Chgb	T	C	2: 132,627,897 (GRCm39)		probably benign	Het
Chrna1	C	A	2: 73,398,426 (GRCm39)		probably benign	Het
Chst10	A	G	1: 38,904,844 (GRCm39)	L283P	probably damaging	Het
Clca3a1	A	G	3: 144,466,323 (GRCm39)		probably null	Het
Crppa	A	T	12: 36,440,467 (GRCm39)	H125L	probably damaging	Het
Cryzl1	G	T	16: 91,496,175 (GRCm39)	A1E	possibly damaging	Het
Csnk1a1	T	C	18: 61,709,618 (GRCm39)	Y213H	probably damaging	Het
Cspg4	A	G	9: 56,805,375 (GRCm39)	Q2062R	probably benign	Het
Ctnnal1	A	G	4: 56,835,348 (GRCm39)	C310R	probably benign	Het
D630003M21Rik	T	C	2: 158,042,228 (GRCm39)	E906G	probably benign	Het
D930048N14Rik	T	C	11: 51,545,755 (GRCm39)		probably benign	Het
Dgkq	A	G	5: 108,804,361 (GRCm39)	L33P	probably benign	Het
Dlc1	C	T	8: 37,051,164 (GRCm39)	G856R	probably damaging	Het
Dst	T	A	1: 34,258,612 (GRCm39)		probably benign	Het
Dtl	A	T	1: 191,301,819 (GRCm39)	Y79*	probably null	Het
Egfr	T	G	11: 16,822,855 (GRCm39)	L406R	probably damaging	Het
Elp3	A	T	14: 65,800,695 (GRCm39)		probably null	Het
Fbxw19	C	A	9: 109,310,621 (GRCm39)		probably null	Het
Frs2	T	C	10: 116,910,570 (GRCm39)	E264G	possibly damaging	Het
Fscn2	G	T	11: 120,252,706 (GRCm39)	V58L	probably damaging	Het
Gm17324	G	A	9: 78,356,007 (GRCm39)		probably benign	Het
Gm4787	A	T	12: 81,425,086 (GRCm39)	N357K	probably benign	Het
Gm9956	G	T	10: 56,621,291 (GRCm39)			Het
Gsg1l	C	T	7: 125,619,795 (GRCm39)		probably null	Het
Herc1	G	A	9: 66,352,927 (GRCm39)	V2138M	possibly damaging	Het
Htr2a	T	C	14: 74,943,764 (GRCm39)	L448P	probably benign	Het
Ing3	C	T	6: 21,970,034 (GRCm39)	S255L	probably damaging	Het
Krt78	T	C	15: 101,859,384 (GRCm39)	D271G	probably damaging	Het
Lmbrd2	T	A	15: 9,194,816 (GRCm39)	L606H	probably damaging	Het
Lmod1	T	A	1: 135,252,906 (GRCm39)	N53K	probably damaging	Het
Lsr	G	C	7: 30,657,763 (GRCm39)	A467G	probably benign	Het
Mbtd1	T	A	11: 93,823,038 (GRCm39)		probably null	Het
Mill1	T	A	7: 17,998,802 (GRCm39)	Y337*	probably null	Het
Mlxipl	A	T	5: 135,166,117 (GRCm39)	Q833L	probably benign	Het
Mon2	C	T	10: 122,874,515 (GRCm39)	V278M	probably damaging	Het
Mxra8	A	C	4: 155,926,190 (GRCm39)	M180L	probably benign	Het
Myo18a	A	T	11: 77,702,420 (GRCm39)		probably benign	Het
Myo1c	T	G	11: 75,556,657 (GRCm39)		probably null	Het
Myo1g	T	C	11: 6,460,203 (GRCm39)	T782A	probably benign	Het
Ncapd3	A	G	9: 26,975,401 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,198,699 (GRCm39)	D414G	probably damaging	Het
Nedd4l	T	A	18: 65,328,256 (GRCm39)		probably benign	Het
Nf2	T	C	11: 4,741,185 (GRCm39)	K343R	possibly damaging	Het
Nfasc	A	T	1: 132,531,584 (GRCm39)	D733E	possibly damaging	Het
Nolc1	G	A	19: 46,072,598 (GRCm39)	D699N	probably damaging	Het
Nrbp2	C	T	15: 75,960,825 (GRCm39)	A45T	probably benign	Het
Obscn	A	G	11: 58,952,348 (GRCm39)	V3907A	possibly damaging	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or2y6	T	C	11: 52,104,576 (GRCm39)	Q80R	possibly damaging	Het
Or8b8	A	T	9: 37,809,351 (GRCm39)	Y217F	probably damaging	Het
Pank2	C	T	2: 131,124,526 (GRCm39)	T290I	probably damaging	Het
Pbx4	T	C	8: 70,317,529 (GRCm39)	V171A	probably benign	Het
Pcgf1	G	T	6: 83,057,555 (GRCm39)	V75F	probably damaging	Het
Pik3ca	T	C	3: 32,515,660 (GRCm39)	S778P	probably damaging	Het
Pld6	T	C	11: 59,676,047 (GRCm39)	I141M	probably damaging	Het
Polq	T	A	16: 36,914,864 (GRCm39)	V2508E	probably damaging	Het
Prkca	C	G	11: 107,905,202 (GRCm39)	D179H	possibly damaging	Het
Pspn	T	C	17: 57,306,720 (GRCm39)	S70G	probably damaging	Het
Ptchd4	C	T	17: 42,814,637 (GRCm39)	T846I	probably benign	Het
Reg3g	A	C	6: 78,444,827 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,704,139 (GRCm39)	H2062Y	probably benign	Het
Rsph4a	C	T	10: 33,788,987 (GRCm39)	Q611*	probably null	Het
Scart1	C	A	7: 139,804,873 (GRCm39)	C625*	probably null	Het
Scgb1b20	G	A	7: 33,072,739 (GRCm39)		probably null	Het
Sfxn5	T	C	6: 85,246,955 (GRCm39)		probably benign	Het
Sh3tc1	T	A	5: 35,857,651 (GRCm39)	Q1179L	possibly damaging	Het
Skint11	A	G	4: 114,051,762 (GRCm39)	I37V	probably benign	Het
Slc35f5	T	C	1: 125,503,906 (GRCm39)		probably benign	Het
Slc8a2	A	C	7: 15,891,264 (GRCm39)	D768A	probably damaging	Het
Slco6b1	A	G	1: 96,924,909 (GRCm39)		noncoding transcript	Het
Smurf2	T	A	11: 106,726,931 (GRCm39)	T453S	probably benign	Het
Spag16	A	G	1: 70,532,927 (GRCm39)		probably benign	Het
Spindoc	G	A	19: 7,351,509 (GRCm39)	T205I	probably benign	Het
Stab1	T	C	14: 30,870,902 (GRCm39)	I1316V	probably benign	Het
Stox2	T	C	8: 47,646,900 (GRCm39)	R187G	probably damaging	Het
Tcea2	A	C	2: 181,326,274 (GRCm39)	T93P	probably benign	Het
Tenm4	T	C	7: 96,544,830 (GRCm39)	M2311T	probably benign	Het
Tmem63a	A	G	1: 180,788,026 (GRCm39)	Q260R	probably benign	Het
Tnpo2	A	T	8: 85,780,158 (GRCm39)	H698L	probably benign	Het
Trim33	A	G	3: 103,217,700 (GRCm39)	D215G	probably damaging	Het
Ttc3	T	A	16: 94,227,071 (GRCm39)	I727N	probably damaging	Het
Ttn	T	A	2: 76,773,669 (GRCm39)	K2271N	probably damaging	Het
Ubr2	T	A	17: 47,297,705 (GRCm39)	K223*	probably null	Het
Ubr4	A	G	4: 139,144,186 (GRCm39)	M1410V	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,271 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,981,391 (GRCm39)	H880L	probably benign	Het
Unc80	G	A	1: 66,661,633 (GRCm39)	C1686Y	possibly damaging	Het
Upf2	T	A	2: 5,962,478 (GRCm39)	L60Q	unknown	Het
Usf2	A	T	7: 30,654,161 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,586 (GRCm39)		probably benign	Het
Usp21	T	A	1: 171,110,588 (GRCm39)		probably benign	Het
Vmn2r118	T	A	17: 55,917,970 (GRCm39)	K181*	probably null	Het
Vmn2r124	T	A	17: 18,293,991 (GRCm39)	S693T	possibly damaging	Het
Vmn2r76	C	A	7: 85,877,987 (GRCm39)	G470V	probably benign	Het
Vps13c	A	C	9: 67,838,017 (GRCm39)	I1856L	probably benign	Het
Vps50	C	T	6: 3,520,210 (GRCm39)	L119F	probably damaging	Het
Wdfy3	T	A	5: 102,038,655 (GRCm39)	S2012C	probably damaging	Het
Zfp1008	A	C	13: 62,753,029 (GRCm39)	V99G	possibly damaging	Het
Zfp142	A	G	1: 74,610,714 (GRCm39)	V924A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp235	T	C	7: 23,841,644 (GRCm39)	S688P	probably damaging	Het
Zfp39	C	T	11: 58,780,813 (GRCm39)	V650I	probably benign	Het
Zfp82	A	T	7: 29,756,265 (GRCm39)	N272K	probably damaging	Het
Zfyve21	A	C	12: 111,789,698 (GRCm39)	D54A	possibly damaging	Het
Zfyve26	C	T	12: 79,291,258 (GRCm39)	D2116N	probably 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
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
R7316:Dag1	UTSW	9	108,086,701 (GRCm39)	missense	probably benign	0.00
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'- CACCTACTAACTGCTGCTCTCGAAG -3'
(R):5'- AGAGCCCACAGCCGTTATTACTCC -3'

Sequencing Primer
(F):5'- CTCAAAATAGGTTCCCACCCAG -3'
(R):5'- AAGAAGCCACGAGTGTCC -3'

Posted On

2013-06-12