Mutagenetix > Incidental Mutations

Incidental Mutation 'R4893:Dtna'

377444

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

042498-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23415135-23659715 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23569667 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 85 (L85P)

Ref Sequence

ENSEMBL: ENSMUSP00000152565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047954] [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000221880]

Predicted Effect

probably damaging
Transcript: ENSMUST00000047954
AA Change: L85P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037475
Gene: ENSMUSG00000024302
AA Change: L85P

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	4.9e-43	PFAM
Pfam:EF-hand_3	144	232	7.8e-38	PFAM
ZnF_ZZ	237	282	1.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115832
AA Change: L85P

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: L85P

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 damaging
Transcript: ENSMUST00000220904
AA Change: L85P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221880
AA Change: L85P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 116,971,165	I401T	probably damaging	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
Acss1	C	A	2: 150,629,866	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,200,478	D286A	probably benign	Het
Akap5	T	C	12: 76,329,969	V718A	probably damaging	Het
Ankk1	A	G	9: 49,415,683	V732A	probably benign	Het
Antxr2	T	A	5: 98,004,072	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,866,956	F1063V	probably benign	Het
Ascl5	A	T	1: 136,051,179	I126F	probably damaging	Het
Aspm	T	A	1: 139,489,839		probably null	Het
Atf6b	T	C	17: 34,648,612	S100P	probably damaging	Het
Baz2a	C	A	10: 128,123,415	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,847,419		probably benign	Het
Celsr3	C	G	9: 108,849,421	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,925,173	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,365,184	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,585,301		probably benign	Het
Cstf1	C	T	2: 172,380,524	R401C	probably damaging	Het
Cul3	A	G	1: 80,288,850	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,194,983	D124G	probably damaging	Het
Dnah12	A	G	14: 26,710,170	D381G	possibly damaging	Het
Ephb2	A	G	4: 136,659,753	I722T	probably damaging	Het
Epn3	A	T	11: 94,491,996	F421I	probably damaging	Het
Fam160b1	T	A	19: 57,381,756	H477Q	probably benign	Het
Fam83f	T	A	15: 80,691,955	L269H	probably damaging	Het
Gata4	G	A	14: 63,201,596	A139V	probably benign	Het
Glce	T	C	9: 62,068,495	D241G	probably benign	Het
Gm17728	A	T	17: 9,422,231	I58F	probably benign	Het
Inhba	A	T	13: 16,026,549	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,427,821	R394L	probably benign	Het
Klhl14	T	C	18: 21,557,935	Y486C	probably damaging	Het
Krt1	A	G	15: 101,850,120	I203T	probably damaging	Het
Lims2	T	C	18: 31,941,811		probably null	Het
Lrrc31	T	G	3: 30,679,297	I423L	probably benign	Het
Map7d1	C	T	4: 126,233,222	D732N	unknown	Het
Mau2	A	T	8: 70,030,640		probably null	Het
Mbtps1	G	A	8: 119,518,193	R840W	probably damaging	Het
Morn3	T	C	5: 123,037,682	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,777,865	K63E	probably damaging	Het
Muc20	T	C	16: 32,794,672	T112A	possibly damaging	Het
Myo6	T	A	9: 80,228,877	L94Q	probably damaging	Het
Nos1	C	A	5: 117,952,877	T1423K	possibly damaging	Het
Olfr166	A	G	16: 19,486,903	T22A	probably benign	Het
Olfr31	T	C	14: 14,328,852	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,343	T1114A	probably benign	Het
Pgm1	T	C	5: 64,105,940	V310A	probably benign	Het
Pi4ka	T	C	16: 17,377,036	E166G	probably benign	Het
Pign	A	T	1: 105,646,711	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,282,000	V149L	probably benign	Het
Pkd1l3	A	T	8: 109,638,394	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,153,771	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,771,421	Q355K	probably benign	Het
Pnpla7	T	A	2: 25,053,676	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,355,344	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,599,425	S544T	probably damaging	Het
Pusl1	G	A	4: 155,889,541	T252I	probably benign	Het
Rnf44	A	G	13: 54,681,932		probably null	Het
Slc24a2	A	T	4: 87,226,908	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,455,216		probably null	Het
Sox8	T	C	17: 25,568,989	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,846		probably null	Het
Taar6	T	C	10: 23,985,400	I83V	probably benign	Het
Tes	T	A	6: 17,104,596	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,406,255	L435H	probably damaging	Het
Zfhx3	G	T	8: 108,957,007	D3693Y	unknown	Het
Zfp931	G	A	2: 178,068,203	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,542	V95G	unknown	Het
Zw10	A	G	9: 49,074,025	E587G	possibly damaging	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
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
R7103:Dtna	UTSW	18	23653379	critical splice donor site	probably null
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
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'- CAAACCCGGAGCAGTGTTAAG -3'
(R):5'- CTGTCTCAGAGCCTTTAAAGTTTC -3'

Sequencing Primer
(F):5'- AGCAGTGTTAAGGAGCACAC -3'
(R):5'- AGTTTCATTTATGACGTAACCTCTG -3'

Posted On

2016-03-17