Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Dtna'

551023

Institutional Source

Beutler Lab

Gene Symbol

Dtna

Ensembl Gene

ENSMUSG00000024302

Gene Name

dystrobrevin alpha

Synonyms

alpha-dystrobrevin, adbn, Dtn, a-DB-1, A0, 87K protein, 2210407P21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23415135-23659715 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 23653379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000222726]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000115832

SMART Domains

Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	16	140	1.7e-37	PFAM
Pfam:EF-hand_3	144	232	1.6e-32	PFAM
ZnF_ZZ	237	282	1.29e-17	SMART
SCOP:d1eq1a_	361	494	5e-3	SMART
low complexity region	499	514	N/A	INTRINSIC
coiled coil region	650	677	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000220904

Predicted Effect

probably benign
Transcript: ENSMUST00000222726

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutants exhibit skeletal and cardiac myopathies. Neuromuscular junctions appear to form normally, but their postnatal maturation is compromised. Dtna mutations do not increase the severity of Dmd or Utrn mutants whose products are also part of the dystrophin-glycoprotein complex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315	F568S	probably damaging	Het
Atr	G	A	9: 95,865,372	G236S	probably damaging	Het
Brd3	T	A	2: 27,450,394	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114		probably null	Het
Csnka2ip	C	A	16: 64,478,757	V415F	unknown	Het
Dmp1	A	T	5: 104,211,863	D135V	probably damaging	Het
Endou	A	G	15: 97,718,929	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962	E149G	probably benign	Het
G6pc	C	A	11: 101,374,587		probably null	Het
Gm13119	C	T	4: 144,363,727	R446C	probably benign	Het
Gm9573	C	A	17: 35,621,540	A585S	unknown	Het
Gmeb1	T	C	4: 132,234,868	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,401,606	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,254,511	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583		probably null	Het
Kcnmb4	T	C	10: 116,473,259	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,077,785	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166		probably benign	Het
Mindy3	C	A	2: 12,401,074	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,149,283	E569G	possibly damaging	Het
Misp	T	A	10: 79,827,165	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483	I243T	possibly damaging	Het
Olfr1423	A	G	19: 12,036,388	M118T	probably damaging	Het
Olfr477	A	G	7: 107,990,598	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885		probably null	Het
Tom1l1	T	C	11: 90,671,081		probably null	Het
Topors	C	T	4: 40,261,706	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492	A2619E		Het
Vps8	G	A	16: 21,526,441	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072	E149G	probably benign	Het

Other mutations in Dtna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Dtna	APN	18	23597488	missense	probably benign	0.22
IGL01620:Dtna	APN	18	23625087	missense	probably damaging	1.00
IGL01705:Dtna	APN	18	23545731	missense	probably damaging	1.00
IGL01914:Dtna	APN	18	23597459	missense	possibly damaging	0.62
IGL02388:Dtna	APN	18	23597514	missense	probably benign	0.00
IGL02427:Dtna	APN	18	23651538	missense	possibly damaging	0.95
IGL03074:Dtna	APN	18	23602605	missense	possibly damaging	0.74
R0041:Dtna	UTSW	18	23646875	unclassified	probably benign
R0041:Dtna	UTSW	18	23646875	unclassified	probably benign
R0078:Dtna	UTSW	18	23621442	missense	probably damaging	1.00
R0390:Dtna	UTSW	18	23597501	missense	probably damaging	1.00
R1808:Dtna	UTSW	18	23569640	missense	probably damaging	1.00
R1872:Dtna	UTSW	18	23597560	critical splice donor site	probably null
R2095:Dtna	UTSW	18	23569748	missense	probably damaging	1.00
R2216:Dtna	UTSW	18	23569565	missense	probably damaging	1.00
R2295:Dtna	UTSW	18	23631412	missense	probably damaging	1.00
R2402:Dtna	UTSW	18	23595478	nonsense	probably null
R2846:Dtna	UTSW	18	23651503	splice site	probably null
R3836:Dtna	UTSW	18	23625102	missense	probably damaging	1.00
R4764:Dtna	UTSW	18	23535149	splice site	probably null
R4893:Dtna	UTSW	18	23569667	missense	probably damaging	0.99
R5194:Dtna	UTSW	18	23590245	nonsense	probably null
R5373:Dtna	UTSW	18	23651613	missense	probably damaging	1.00
R5374:Dtna	UTSW	18	23651613	missense	probably damaging	1.00
R5526:Dtna	UTSW	18	23646230	missense	probably damaging	0.99
R5755:Dtna	UTSW	18	23621463	missense	probably benign
R5769:Dtna	UTSW	18	23651554	missense	probably benign	0.27
R6062:Dtna	UTSW	18	23622056	missense	possibly damaging	0.87
R6413:Dtna	UTSW	18	23622014	missense	probably damaging	1.00
R6876:Dtna	UTSW	18	23611110	missense	probably benign	0.00
R7711:Dtna	UTSW	18	23625196	critical splice donor site	probably null
R7804:Dtna	UTSW	18	23595609	missense	probably damaging	0.97
R8156:Dtna	UTSW	18	23590331	nonsense	probably null
R8437:Dtna	UTSW	18	23590341	nonsense	probably null
R8786:Dtna	UTSW	18	23583133	missense	probably benign	0.10
R9038:Dtna	UTSW	18	23610496	missense	probably benign
R9268:Dtna	UTSW	18	23569586	missense	possibly damaging	0.93
R9416:Dtna	UTSW	18	23647055	critical splice donor site	probably null
R9578:Dtna	UTSW	18	23595555	missense	probably damaging	0.98
R9605:Dtna	UTSW	18	23631397	missense	probably damaging	1.00
R9638:Dtna	UTSW	18	23611065	missense	probably benign
X0063:Dtna	UTSW	18	23643168	missense	probably damaging	0.98
X0066:Dtna	UTSW	18	23592981	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- CTCAAAGGCCGTGTAAGCTG -3'
(R):5'- TGTCTGGGGATTTACACAGGAG -3'

Sequencing Primer
(F):5'- GAATGCATCTGCGGCTCTCTG -3'
(R):5'- GCATAATGAGCTCTGTGCAGTTACC -3'

Posted On

2019-05-15