Mutagenetix > Incidental Mutations

Incidental Mutation 'R4764:Dtna'

357139

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

042405-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R4764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23415135-23659715 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 23535149 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047954] [ENSMUST00000047954] [ENSMUST00000115832] [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000221880] [ENSMUST00000222515]

Predicted Effect

probably null
Transcript: ENSMUST00000047954

SMART Domains

Protein: ENSMUSP00000037475
Gene: ENSMUSG00000024302

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 null
Transcript: ENSMUST00000047954

SMART Domains

Protein: ENSMUSP00000037475
Gene: ENSMUSG00000024302

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 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: 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

noncoding transcript
Transcript: ENSMUST00000220967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221471

Predicted Effect

probably null
Transcript: ENSMUST00000221880

Predicted Effect

probably null
Transcript: ENSMUST00000222515

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223441

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	G	5: 146,185,219	S18R	probably benign	Het
2010315B03Rik	A	C	9: 124,293,766	V176G	probably benign	Het
Abcb1a	T	A	5: 8,715,732		probably null	Het
Acad11	C	A	9: 104,075,877	P102T	probably damaging	Het
Aggf1	T	A	13: 95,364,713	D387V	probably damaging	Het
Akr1c13	G	A	13: 4,198,497	V234I	probably benign	Het
Alg5	A	G	3: 54,746,473	Y210C	possibly damaging	Het
Arl8a	C	A	1: 135,147,099	A41E	probably benign	Het
Axin1	C	A	17: 26,173,756	T337K	possibly damaging	Het
Bdp1	A	G	13: 100,056,267	L1353P	probably damaging	Het
Bptf	A	T	11: 107,043,694	V2851E	probably damaging	Het
C9	A	T	15: 6,459,643	E160D	probably damaging	Het
Cbx6	T	C	15: 79,828,680	D182G	probably damaging	Het
Ccdc144b	T	G	3: 36,010,660	*521C	probably null	Het
Cep57l1	T	C	10: 41,721,682	R242G	possibly damaging	Het
Chst8	T	C	7: 34,675,724	D230G	probably damaging	Het
Col3a1	A	C	1: 45,346,110	D129A	probably damaging	Het
Cst12	A	G	2: 148,789,473	E38G	possibly damaging	Het
Disp1	G	T	1: 183,088,096	A920E	probably damaging	Het
Elp3	T	A	14: 65,582,929	H97L	probably damaging	Het
Exoc8	A	G	8: 124,897,575	F18L	possibly damaging	Het
Extl3	T	C	14: 65,077,320	T138A	probably benign	Het
Foxi2	G	T	7: 135,410,667	G95C	probably damaging	Het
Foxj2	G	T	6: 122,833,271	Q196H	probably benign	Het
Frem1	A	T	4: 82,989,189	D811E	probably damaging	Het
Frmd4a	A	T	2: 4,603,448	E709V	probably damaging	Het
Fscn3	T	A	6: 28,436,201	*499K	probably null	Het
Galc	C	T	12: 98,242,744	G217D	possibly damaging	Het
Gm5592	G	T	7: 41,216,118		probably benign	Het
Hnrnpul1	A	G	7: 25,743,011	S269P	probably benign	Het
Hrh1	T	C	6: 114,480,535	V259A	probably benign	Het
Lef1	T	C	3: 131,184,733	S167P	probably benign	Het
Mtf2	T	C	5: 108,093,352	I248T	probably benign	Het
Muc2	C	T	7: 141,745,608	T130M	possibly damaging	Het
Myo16	T	C	8: 10,435,880	F653S	probably damaging	Het
Myo1e	T	C	9: 70,343,135		probably null	Het
Myo5a	G	T	9: 75,116,336		probably benign	Het
Nlrp1b	T	A	11: 71,182,663	D118V	probably damaging	Het
Npat	T	C	9: 53,572,620	F1412S	probably damaging	Het
Olfr1377	G	A	11: 50,984,775	E25K	probably benign	Het
Olfr884	T	G	9: 38,048,140	L306R	probably benign	Het
Onecut3	G	T	10: 80,495,707	A234S	unknown	Het
Osbpl6	T	A	2: 76,546,000	I73K	probably damaging	Het
Otog	C	T	7: 46,288,519	T1884I	probably benign	Het
Pax6	C	A	2: 105,696,502	P251Q	probably benign	Het
Pias4	A	G	10: 81,164,034	Y62H	possibly damaging	Het
Pknox1	T	A	17: 31,590,713	V97D	possibly damaging	Het
Plekhf1	A	G	7: 38,221,598	V182A	probably damaging	Het
Plscr4	T	C	9: 92,484,780	V149A	probably damaging	Het
Polr2l	A	T	7: 141,473,396	L35Q	probably damaging	Het
Ppp3ca	T	C	3: 136,890,489	I305T	probably damaging	Het
Ptprg	G	A	14: 12,122,068	A311T	probably benign	Het
Raet1e	T	G	10: 22,181,332	I185R	probably damaging	Het
Rims1	A	C	1: 22,479,462	V520G	probably damaging	Het
Rp1	A	T	1: 4,345,878	D1670E	probably damaging	Het
Rps6ka1	A	T	4: 133,860,557	I352N	probably damaging	Het
Rtp3	T	C	9: 110,987,350		probably benign	Het
Ryr3	T	A	2: 112,733,031		probably null	Het
Sall3	A	G	18: 80,974,476	V79A	probably damaging	Het
Sdsl	C	T	5: 120,462,054	V93M	probably damaging	Het
Slc7a13	A	G	4: 19,819,390	N197D	probably benign	Het
Slit1	T	A	19: 41,721,044	R137*	probably null	Het
Stxbp5	C	A	10: 9,770,623	R115L	probably damaging	Het
Tcea1	G	A	1: 4,894,944	R290H	probably damaging	Het
Tmem132e	A	T	11: 82,434,512	T113S	probably damaging	Het
Tpp1	A	T	7: 105,749,251	I286N	probably damaging	Het
Trio	G	A	15: 27,732,538	R3086*	probably null	Het
Usp22	T	A	11: 61,160,636	N294Y	probably damaging	Het
Usp44	T	A	10: 93,846,071	S128T	probably benign	Het
Zc3h7b	T	C	15: 81,769,183		probably null	Het
Zfhx2	T	C	14: 55,066,915	Y1204C	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
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
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
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'- ACCAAATGTCTTGCTCGGTTC -3'
(R):5'- AATGCATCGTTATGGAAGGAAC -3'

Sequencing Primer
(F):5'- GAAGCAGGATCTCTTGTTAGACC -3'
(R):5'- ACTGAGGATTTTTATGGAGAAGTCC -3'

Posted On

2015-11-11