Mutagenetix > Incidental Mutation

Incidental Mutation 'R8786:Dtna'

670669

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

068632-MU

Accession Numbers

Essential gene?

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

Stock #

R8786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23548192-23792772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23716190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 138 (T138A)

Ref Sequence

ENSEMBL: ENSMUSP00000152288 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000047954
AA Change: T138A

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000037475
Gene: ENSMUSG00000024302
AA Change: T138A

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 benign
Transcript: ENSMUST00000115832
AA Change: T138A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: T138A

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 benign
Transcript: ENSMUST00000220904
AA Change: T138A

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000221880
AA Change: T138A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0900

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	A	T	3: 95,592,784 (GRCm39)	M1K	probably null	Het
Atg2a	G	T	19: 6,294,460 (GRCm39)	V59L	probably damaging	Het
Atxn7	C	A	14: 14,103,316 (GRCm38)	T888K	possibly damaging	Het
Btbd9	T	C	17: 30,749,144 (GRCm39)	R57G	probably damaging	Het
Catspere2	T	A	1: 177,843,362 (GRCm39)		probably benign	Het
Catspere2	G	A	1: 177,843,555 (GRCm39)		probably benign	Het
Ccdc9b	C	A	2: 118,587,732 (GRCm39)	S534I	unknown	Het
Crp	T	C	1: 172,526,293 (GRCm39)	V126A	probably benign	Het
Csf1r	A	T	18: 61,247,942 (GRCm39)	T337S	probably damaging	Het
Dcaf12	T	C	4: 41,296,439 (GRCm39)	N299S	probably damaging	Het
Dcaf17	T	C	2: 70,917,744 (GRCm39)		probably null	Het
Dip2c	A	G	13: 9,665,830 (GRCm39)	D985G	probably damaging	Het
Emid1	T	C	11: 5,081,517 (GRCm39)	D212G	probably benign	Het
Epyc	G	A	10: 97,511,525 (GRCm39)	D173N	probably damaging	Het
Fanci	A	G	7: 79,052,298 (GRCm39)	D162G	probably benign	Het
Firrm	A	T	1: 163,792,040 (GRCm39)	L626Q	probably damaging	Het
Fry	T	C	5: 150,317,501 (GRCm39)	V827A	probably benign	Het
Ggps1	T	C	13: 14,228,505 (GRCm39)	E226G	probably benign	Het
Gopc	G	A	10: 52,230,750 (GRCm39)	R183*	probably null	Het
Grik4	C	T	9: 42,453,130 (GRCm39)	G752S	probably damaging	Het
H2-D1	T	A	17: 35,482,844 (GRCm39)	C125S	probably damaging	Het
H2-Q1	T	A	17: 35,539,869 (GRCm39)	V46D	probably damaging	Het
Hsd17b3	T	C	13: 64,219,862 (GRCm39)	N126S	probably damaging	Het
Igsf10	G	A	3: 59,238,063 (GRCm39)	T706I	probably benign	Het
Kmt2e	A	G	5: 23,669,864 (GRCm39)	D117G	probably damaging	Het
Kmt5a	C	T	5: 124,584,074 (GRCm39)	A18V	probably benign	Het
Krtap29-1	C	T	11: 99,869,465 (GRCm39)	G139R	probably damaging	Het
Lama5	T	C	2: 179,838,100 (GRCm39)	Y872C	probably damaging	Het
Lrriq4	T	A	3: 30,704,752 (GRCm39)	M260K	probably benign	Het
Map2	G	A	1: 66,472,755 (GRCm39)		probably benign	Het
Mrpl51	C	T	6: 125,169,340 (GRCm39)	A8V	probably benign	Het
Ndufs3	T	C	2: 90,732,778 (GRCm39)	T103A	probably benign	Het
Numa1	T	G	7: 101,647,616 (GRCm39)	L449R	probably benign	Het
Or10g3b	C	T	14: 52,587,021 (GRCm39)	A161T	possibly damaging	Het
Pan3	C	T	5: 147,424,951 (GRCm39)	P295S	possibly damaging	Het
Pds5b	T	C	5: 150,704,134 (GRCm39)	S846P	probably damaging	Het
Phf2	A	T	13: 48,967,219 (GRCm39)	M712K	unknown	Het
Phlda2	A	T	7: 143,056,211 (GRCm39)	V6E	probably benign	Het
Pkdrej	C	A	15: 85,704,044 (GRCm39)	A631S	probably benign	Het
Plcd3	G	T	11: 102,962,569 (GRCm39)	N627K	probably damaging	Het
Prpf6	T	C	2: 181,262,415 (GRCm39)	I138T	possibly damaging	Het
Psd4	G	A	2: 24,295,444 (GRCm39)	S866N	probably benign	Het
Ptprb	A	C	10: 116,155,306 (GRCm39)	T400P	probably benign	Het
Rxfp1	T	C	3: 79,570,677 (GRCm39)		probably null	Het
Sbf2	A	G	7: 110,063,793 (GRCm39)		probably null	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Setd4	C	T	16: 93,390,162 (GRCm39)	R89Q	probably benign	Het
Sgpp1	A	G	12: 75,763,152 (GRCm39)	I343T	probably benign	Het
Sh2b2	T	C	5: 136,260,658 (GRCm39)	D186G	probably benign	Het
Slc12a4	A	T	8: 106,680,549 (GRCm39)	I191N	probably damaging	Het
Slc4a4	A	T	5: 89,232,549 (GRCm39)	D251V	probably benign	Het
Slc6a5	A	T	7: 49,561,843 (GRCm39)	D125V	possibly damaging	Het
Slf1	T	A	13: 77,274,806 (GRCm39)	I16F	possibly damaging	Het
Sncaip	T	C	18: 53,031,334 (GRCm39)	V521A	probably damaging	Het
Spmip10	T	C	18: 56,727,568 (GRCm39)	F89L	probably damaging	Het
Stx19	T	C	16: 62,642,775 (GRCm39)	L197P	probably damaging	Het
Sucla2	A	G	14: 73,797,905 (GRCm39)	N39D	probably benign	Het
Sult1d1	T	A	5: 87,712,575 (GRCm39)	T90S	probably benign	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tas2r138	A	G	6: 40,589,611 (GRCm39)	S212P	probably damaging	Het
Tdrd3	T	A	14: 87,709,637 (GRCm39)	C106*	probably null	Het
Tlk2	C	T	11: 105,172,059 (GRCm39)	A743V	unknown	Het
Tlr3	T	C	8: 45,851,286 (GRCm39)	D537G	possibly damaging	Het
Tmc1	A	G	19: 20,803,953 (GRCm39)	Y375H	probably damaging	Het
Tsen54	T	A	11: 115,711,498 (GRCm39)	M305K	probably damaging	Het
Umod	C	T	7: 119,076,581 (GRCm39)	V62M	possibly damaging	Het
Vmn1r10	A	G	6: 57,091,010 (GRCm39)	T201A	probably benign	Het
Vmn1r103	T	C	7: 20,243,676 (GRCm39)	T262A	probably benign	Het
Vmn2r100	T	C	17: 19,742,838 (GRCm39)	V404A	probably damaging	Het
Vmn2r56	A	G	7: 12,449,393 (GRCm39)	F282L	probably damaging	Het
Wdr64	A	T	1: 175,636,327 (GRCm39)	K982*	probably null	Het
Xpo6	A	T	7: 125,712,127 (GRCm39)		probably benign	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
R5374: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
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'- CACAACCTTTTCTAAAGTGTGTCTG -3'
(R):5'- AAGGTAGAGGGAATGTTCACTTC -3'

Sequencing Primer
(F):5'- TCTAAAGTGTGTCTGCATAATGC -3'
(R):5'- GTAGAGGGAATGTTCACTTCATTAAC -3'

Posted On

2021-04-30