Mutagenetix > Incidental Mutation

Incidental Mutation 'R5374:Dtna'

428974

Institutional Source

Beutler Lab

Gene Symbol

Dtna

Ensembl Gene

ENSMUSG00000024302

Gene Name

dystrobrevin alpha

Synonyms

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

MMRRC Submission

042950-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R5374 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23548192-23792772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23784670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 730 (Y730H)

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 damaging
Transcript: ENSMUST00000115832
AA Change: Y666H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: Y666H

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

noncoding transcript
Transcript: ENSMUST00000220789

Predicted Effect

probably damaging
Transcript: ENSMUST00000220904
AA Change: Y730H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000222726
AA Change: Y16H

Meta Mutation Damage Score

0.1062

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

96% (81/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,396 (GRCm39)	S862G	probably benign	Het
Adgrf1	G	A	17: 43,601,896 (GRCm39)		probably benign	Het
Adss2	T	G	1: 177,623,954 (GRCm39)	I3L	probably benign	Het
Anapc7	T	A	5: 122,576,280 (GRCm39)	D302E	probably benign	Het
Ank3	A	G	10: 69,789,306 (GRCm39)		probably null	Het
Astn2	A	C	4: 65,315,242 (GRCm39)	V1145G	probably damaging	Het
Babam2	C	T	5: 32,164,574 (GRCm39)		probably benign	Het
Blvrb	A	G	7: 27,165,271 (GRCm39)	H238R	possibly damaging	Het
Cacna1b	C	T	2: 24,596,228 (GRCm39)	V488I	probably damaging	Het
Ccdc88a	C	T	11: 29,413,409 (GRCm39)	T649M	possibly damaging	Het
Cdh12	A	C	15: 21,583,998 (GRCm39)	S613R	probably damaging	Het
Cisd2	A	G	3: 135,114,596 (GRCm39)	V125A	probably benign	Het
Clcn2	C	A	16: 20,528,419 (GRCm39)	G478W	possibly damaging	Het
Cntnap2	T	A	6: 47,084,903 (GRCm39)	H1121Q	probably benign	Het
Corin	A	T	5: 72,462,296 (GRCm39)	C876S	probably damaging	Het
Cox7c	T	C	13: 86,194,739 (GRCm39)	Y19C	probably benign	Het
Cplane1	T	C	15: 8,300,287 (GRCm39)	V3198A	unknown	Het
Cspp1	T	G	1: 10,204,351 (GRCm39)	L1038R	probably damaging	Het
Cwc15	A	G	9: 14,416,234 (GRCm39)	K147E	possibly damaging	Het
Dlgap2	A	G	8: 14,873,614 (GRCm39)	D739G	probably benign	Het
Dmxl2	A	G	9: 54,276,473 (GRCm39)		probably benign	Het
Dock5	A	G	14: 68,043,205 (GRCm39)	V864A	possibly damaging	Het
Dock7	A	G	4: 98,877,275 (GRCm39)	F1088L	possibly damaging	Het
Dpysl3	T	C	18: 43,494,101 (GRCm39)	Y193C	probably damaging	Het
Dusp3	A	G	11: 101,875,451 (GRCm39)	Y38H	possibly damaging	Het
Eif3m	A	T	2: 104,843,277 (GRCm39)	I151N	probably damaging	Het
Entpd2	C	T	2: 25,289,738 (GRCm39)	T380I	probably damaging	Het
Epb41l3	C	A	17: 69,593,795 (GRCm39)	H810N	probably damaging	Het
Fcrl5	A	G	3: 87,353,698 (GRCm39)	T348A	probably benign	Het
Ginm1	A	G	10: 7,655,078 (GRCm39)	S55P	probably damaging	Het
Glt1d1	C	A	5: 127,734,148 (GRCm39)		probably null	Het
Gm15433	T	A	1: 84,941,833 (GRCm39)		noncoding transcript	Het
Gm8221	A	G	15: 77,510,352 (GRCm39)		noncoding transcript	Het
Gramd1c	A	G	16: 43,803,604 (GRCm39)	V603A	probably benign	Het
Grm1	A	G	10: 10,956,186 (GRCm39)	S33P	probably benign	Het
Gstp3	T	C	19: 4,107,922 (GRCm39)	N137S	possibly damaging	Het
Kdm5d	C	T	Y: 927,995 (GRCm39)	P756S	probably benign	Het
Ly75	A	T	2: 60,142,115 (GRCm39)	L1332M	possibly damaging	Het
Med1	T	A	11: 98,054,789 (GRCm39)	K378N	probably damaging	Het
Mn1	A	G	5: 111,569,752 (GRCm39)		probably null	Het
Mpo	T	C	11: 87,694,437 (GRCm39)		probably null	Het
Nom1	C	G	5: 29,646,377 (GRCm39)	R555G	probably damaging	Het
Nsmce4a	C	T	7: 130,139,900 (GRCm39)	R276Q	probably benign	Het
Nt5c	G	A	11: 115,381,643 (GRCm39)		probably null	Het
Olfr908	CACAACAACA	CACAACA	9: 38,427,434 (GRCm39)		probably benign	Het
Or52e18	G	T	7: 104,609,203 (GRCm39)	H245Q	probably damaging	Het
Or5p52	T	C	7: 107,502,698 (GRCm39)	I258T	possibly damaging	Het
Pcdhga4	T	C	18: 37,818,649 (GRCm39)	V66A	probably damaging	Het
Pik3c3	T	C	18: 30,445,614 (GRCm39)	S534P	probably benign	Het
Pla2g4e	A	T	2: 120,016,876 (GRCm39)	C222S	probably benign	Het
Plch1	A	C	3: 63,605,499 (GRCm39)	H1468Q	probably benign	Het
Psd2	T	A	18: 36,140,556 (GRCm39)	W610R	probably damaging	Het
Ptgs1	A	T	2: 36,141,198 (GRCm39)	K548N	probably damaging	Het
Ptprz1	T	A	6: 23,007,354 (GRCm39)	V1639E	probably damaging	Het
Rangap1	A	T	15: 81,590,695 (GRCm39)	S466T	probably benign	Het
Rgsl1	C	T	1: 153,666,053 (GRCm39)	V986I	probably benign	Het
Rhobtb3	T	C	13: 76,027,014 (GRCm39)	Y453C	probably damaging	Het
Rspry1	T	C	8: 95,349,636 (GRCm39)	V8A	probably benign	Het
Rspry1	C	A	8: 95,380,892 (GRCm39)	R399S	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rxfp2	A	G	5: 149,993,725 (GRCm39)	T596A	probably benign	Het
Sap18b	G	A	8: 96,551,998 (GRCm39)	A3T	unknown	Het
Serpina3j	A	G	12: 104,280,986 (GRCm39)	D53G	probably damaging	Het
Skint3	T	A	4: 112,155,386 (GRCm39)	D381E	possibly damaging	Het
Slirp	T	C	12: 87,496,192 (GRCm39)	S96P	possibly damaging	Het
Snx6	T	C	12: 54,817,513 (GRCm39)	E128G	probably damaging	Het
Stap1	A	G	5: 86,238,787 (GRCm39)	T152A	possibly damaging	Het
Tcf20	A	T	15: 82,736,158 (GRCm39)	N1764K	probably damaging	Het
Thap2	A	T	10: 115,208,744 (GRCm39)	Y125*	probably null	Het
Ticrr	T	G	7: 79,340,690 (GRCm39)	Y1031*	probably null	Het
Tnrc18	G	A	5: 142,725,911 (GRCm39)	R1793C	unknown	Het
Trpm3	C	T	19: 22,903,548 (GRCm39)	R945*	probably null	Het
Ugt1a10	T	A	1: 87,983,632 (GRCm39)	D143E	probably damaging	Het
Ush2a	C	T	1: 188,487,403 (GRCm39)	T3057M	probably benign	Het
Zc3h6	A	T	2: 128,844,076 (GRCm39)	I207F	possibly damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zup1	T	C	10: 33,803,462 (GRCm39)	N541D	possibly damaging	Het

Other mutations in Dtna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Dtna	APN	18	23,730,545 (GRCm39)	missense	probably benign	0.22
IGL01620:Dtna	APN	18	23,758,144 (GRCm39)	missense	probably damaging	1.00
IGL01705:Dtna	APN	18	23,678,788 (GRCm39)	missense	probably damaging	1.00
IGL01914:Dtna	APN	18	23,730,516 (GRCm39)	missense	possibly damaging	0.62
IGL02388:Dtna	APN	18	23,730,571 (GRCm39)	missense	probably benign	0.00
IGL02427:Dtna	APN	18	23,784,595 (GRCm39)	missense	possibly damaging	0.95
IGL03074:Dtna	APN	18	23,735,662 (GRCm39)	missense	possibly damaging	0.74
R0041:Dtna	UTSW	18	23,779,932 (GRCm39)	unclassified	probably benign
R0041:Dtna	UTSW	18	23,779,932 (GRCm39)	unclassified	probably benign
R0078:Dtna	UTSW	18	23,754,499 (GRCm39)	missense	probably damaging	1.00
R0390:Dtna	UTSW	18	23,730,558 (GRCm39)	missense	probably damaging	1.00
R1808:Dtna	UTSW	18	23,702,697 (GRCm39)	missense	probably damaging	1.00
R1872:Dtna	UTSW	18	23,730,617 (GRCm39)	critical splice donor site	probably null
R2095:Dtna	UTSW	18	23,702,805 (GRCm39)	missense	probably damaging	1.00
R2216:Dtna	UTSW	18	23,702,622 (GRCm39)	missense	probably damaging	1.00
R2295:Dtna	UTSW	18	23,764,469 (GRCm39)	missense	probably damaging	1.00
R2402:Dtna	UTSW	18	23,728,535 (GRCm39)	nonsense	probably null
R2846:Dtna	UTSW	18	23,784,560 (GRCm39)	splice site	probably null
R3836:Dtna	UTSW	18	23,758,159 (GRCm39)	missense	probably damaging	1.00
R4764:Dtna	UTSW	18	23,668,206 (GRCm39)	splice site	probably null
R4893:Dtna	UTSW	18	23,702,724 (GRCm39)	missense	probably damaging	0.99
R5194:Dtna	UTSW	18	23,723,302 (GRCm39)	nonsense	probably null
R5373:Dtna	UTSW	18	23,784,670 (GRCm39)	missense	probably damaging	1.00
R5526:Dtna	UTSW	18	23,779,287 (GRCm39)	missense	probably damaging	0.99
R5755:Dtna	UTSW	18	23,754,520 (GRCm39)	missense	probably benign
R5769:Dtna	UTSW	18	23,784,611 (GRCm39)	missense	probably benign	0.27
R6062:Dtna	UTSW	18	23,755,113 (GRCm39)	missense	possibly damaging	0.87
R6413:Dtna	UTSW	18	23,755,071 (GRCm39)	missense	probably damaging	1.00
R6876:Dtna	UTSW	18	23,744,167 (GRCm39)	missense	probably benign	0.00
R7103:Dtna	UTSW	18	23,786,436 (GRCm39)	critical splice donor site	probably null
R7711:Dtna	UTSW	18	23,758,253 (GRCm39)	critical splice donor site	probably null
R7804:Dtna	UTSW	18	23,728,666 (GRCm39)	missense	probably damaging	0.97
R8156:Dtna	UTSW	18	23,723,388 (GRCm39)	nonsense	probably null
R8437:Dtna	UTSW	18	23,723,398 (GRCm39)	nonsense	probably null
R8786:Dtna	UTSW	18	23,716,190 (GRCm39)	missense	probably benign	0.10
R9038:Dtna	UTSW	18	23,743,553 (GRCm39)	missense	probably benign
R9268:Dtna	UTSW	18	23,702,643 (GRCm39)	missense	possibly damaging	0.93
R9416:Dtna	UTSW	18	23,780,112 (GRCm39)	critical splice donor site	probably null
R9578:Dtna	UTSW	18	23,728,612 (GRCm39)	missense	probably damaging	0.98
R9605:Dtna	UTSW	18	23,764,454 (GRCm39)	missense	probably damaging	1.00
R9638:Dtna	UTSW	18	23,744,122 (GRCm39)	missense	probably benign
X0063:Dtna	UTSW	18	23,776,225 (GRCm39)	missense	probably damaging	0.98
X0066:Dtna	UTSW	18	23,726,038 (GRCm39)	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TGAACTAGGGGTGTTCAGGC -3'
(R):5'- AAAACATTGTTGTCTGGGATGCG -3'

Sequencing Primer
(F):5'- TTCAGGCAGAACACATTAGGG -3'
(R):5'- ATGCGTGGACCGAGAATTCC -3'

Posted On

2016-09-06