Mutagenetix > Incidental Mutation

Incidental Mutation 'R9038:Dtna'

687573

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

068866-MU

Accession Numbers

Essential gene?

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

Stock #

R9038 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23548192-23792772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23743553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 373 (N373S)

Ref Sequence

ENSEMBL: ENSMUSP00000152288 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000220904
AA Change: N373S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000221880
AA Change: N373S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 95.4%

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
Abcb5	A	T	12: 118,895,651 (GRCm39)	C382S	probably benign	Het
Abcf2	A	G	5: 24,776,191 (GRCm39)	V296A	possibly damaging	Het
Aco2	C	G	15: 81,756,620 (GRCm39)		probably benign	Het
Acvrl1	A	G	15: 101,039,011 (GRCm39)	D436G	possibly damaging	Het
Adamts7	A	G	9: 90,056,692 (GRCm39)	I254V		Het
Arhgef18	A	G	8: 3,503,257 (GRCm39)	I888V	probably benign	Het
Arhgef40	C	A	14: 52,235,072 (GRCm39)	A1083D	probably damaging	Het
Arnt2	C	A	7: 83,954,059 (GRCm39)	A275S	probably benign	Het
Brd10	A	T	19: 29,731,900 (GRCm39)	Y371N	possibly damaging	Het
Brip1	C	T	11: 86,080,599 (GRCm39)	V156I	probably benign	Het
Camk4	C	A	18: 33,291,953 (GRCm39)	C204*	probably null	Het
Cenpe	A	G	3: 134,923,797 (GRCm39)	T161A	probably benign	Het
Chd2	G	A	7: 73,105,358 (GRCm39)	H1256Y	probably damaging	Het
Chd9	G	A	8: 91,716,233 (GRCm39)	V936I	unknown	Het
D6Ertd527e	A	G	6: 87,089,233 (GRCm39)	*465W	probably null	Het
Dcaf11	T	A	14: 55,803,114 (GRCm39)	D309E	probably damaging	Het
Eif2b2	A	G	12: 85,266,897 (GRCm39)	D104G	probably benign	Het
Fras1	A	T	5: 96,874,742 (GRCm39)	T2302S	probably benign	Het
Gga1	A	G	15: 78,768,321 (GRCm39)	K114E	probably damaging	Het
Gm12887	A	G	4: 121,473,616 (GRCm39)		probably null	Het
Gss	A	T	2: 155,406,794 (GRCm39)	I396N		Het
H2-M5	T	C	17: 37,299,422 (GRCm39)	I199M	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ift172	G	T	5: 31,441,399 (GRCm39)	T245K	possibly damaging	Het
Ift70a2	G	A	2: 75,808,215 (GRCm39)	T99I	probably benign	Het
Iqck	A	G	7: 118,498,881 (GRCm39)	D173G	probably damaging	Het
Itga11	A	G	9: 62,675,039 (GRCm39)	N857S	possibly damaging	Het
Kdm1b	C	A	13: 47,202,770 (GRCm39)	S68R	probably benign	Het
Ly6c1	C	A	15: 74,917,300 (GRCm39)	G116V	probably damaging	Het
Myo6	G	T	9: 80,162,285 (GRCm39)	V341L	unknown	Het
Nfkbie	C	A	17: 45,870,183 (GRCm39)	A176E	probably damaging	Het
Nlrp2	C	T	7: 5,330,478 (GRCm39)	M639I	probably benign	Het
Or10g3	T	A	14: 52,609,716 (GRCm39)	S265C	probably damaging	Het
Or10j2	T	A	1: 173,098,147 (GRCm39)	I135N	possibly damaging	Het
Or56a41	T	C	7: 104,740,433 (GRCm39)	I138V	probably benign	Het
Or5w16	A	G	2: 87,577,125 (GRCm39)	N195S	probably damaging	Het
Or6c215	T	C	10: 129,637,564 (GRCm39)	T277A	probably damaging	Het
Or8k40	A	T	2: 86,584,354 (GRCm39)	S243T	probably damaging	Het
Pak4	G	A	7: 28,264,263 (GRCm39)	T213M	probably damaging	Het
Pan2	C	T	10: 128,153,810 (GRCm39)	Q1003*	probably null	Het
Pde4c	G	C	8: 71,179,550 (GRCm39)	V34L	probably benign	Het
Pi4k2a	G	A	19: 42,089,235 (GRCm39)	V199M	probably damaging	Het
Platr25	T	C	13: 62,848,007 (GRCm39)	E285G	probably damaging	Het
Polr3e	T	C	7: 120,536,906 (GRCm39)	V356A	possibly damaging	Het
Prcp	A	G	7: 92,567,017 (GRCm39)	D243G	probably benign	Het
Qsox2	T	C	2: 26,115,246 (GRCm39)	T161A	probably damaging	Het
Rhoj	A	G	12: 75,355,700 (GRCm39)	T35A		Het
Scn9a	T	A	2: 66,325,147 (GRCm39)	M1336L	probably damaging	Het
Sel1l2	G	T	2: 140,117,384 (GRCm39)	N162K	probably damaging	Het
Slc15a3	T	C	19: 10,820,866 (GRCm39)	L161P	probably damaging	Het
Slc4a11	G	A	2: 130,533,663 (GRCm39)	A100V	probably damaging	Het
Sp1	A	G	15: 102,316,320 (GRCm39)	S41G	probably benign	Het
Tbx15	A	G	3: 99,222,085 (GRCm39)	M183V	probably benign	Het
Tfip11	A	G	5: 112,481,214 (GRCm39)	T397A	possibly damaging	Het
Themis	T	C	10: 28,657,749 (GRCm39)	S259P	probably damaging	Het
Tm7sf2	T	C	19: 6,117,172 (GRCm39)	Y77C	probably damaging	Het
Tnnt2	C	A	1: 135,774,484 (GRCm39)	P81H	possibly damaging	Het
Trpc7	T	C	13: 57,035,886 (GRCm39)	T16A	probably benign	Het
Ttn	T	A	2: 76,745,056 (GRCm39)	Y5331F	possibly damaging	Het
Virma	A	G	4: 11,526,922 (GRCm39)	Q1057R	possibly damaging	Het
Vmn2r118	A	T	17: 55,918,649 (GRCm39)	F81Y	probably damaging	Het
Vmn2r88	T	C	14: 51,651,490 (GRCm39)	V268A		Het
Vmn2r93	T	A	17: 18,524,471 (GRCm39)	M155K	probably benign	Het
Vps13b	G	T	15: 35,875,931 (GRCm39)	C2772F	possibly damaging	Het
Wdr90	T	C	17: 26,076,200 (GRCm39)	N86D		Het
Zbtb34	T	C	2: 33,301,248 (GRCm39)	D431G	probably damaging	Het
Zc3h3	G	A	15: 75,711,237 (GRCm39)	P408L	probably benign	Het
Zfp345	A	G	2: 150,313,864 (GRCm39)	Y558H	probably benign	Het
Zfp583	G	A	7: 6,319,543 (GRCm39)	P490S	probably 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
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
R8786:Dtna	UTSW	18	23,716,190 (GRCm39)	missense	probably benign	0.10
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'- TAGCTGTTACAGTTCCCAGATAC -3'
(R):5'- TAGTGAGTTATAAGTCAGCTGCG -3'

Sequencing Primer
(F):5'- GTGGAAATCTATAGCTATCTTGAGC -3'
(R):5'- TAAGTCAGCTGCGATCTAGC -3'

Posted On

2021-11-19