Mutagenetix > Incidental Mutation

Incidental Mutation 'R1872:Dtna'

210899

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

039894-MU

Accession Numbers

Essential gene?

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

Stock #

R1872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23548192-23792772 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 23730617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152565 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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

probably null
Transcript: ENSMUST00000221880

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (113/117)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,350,493 (GRCm39)	C133Y	unknown	Het
Abce1	A	G	8: 80,416,880 (GRCm39)	M377T	possibly damaging	Het
Adam25	A	T	8: 41,208,263 (GRCm39)	R510*	probably null	Het
Adamts12	G	T	15: 11,217,966 (GRCm39)	E308*	probably null	Het
Adgrg3	C	A	8: 95,760,070 (GRCm39)	N96K	possibly damaging	Het
Afdn	T	C	17: 14,101,578 (GRCm39)	V1022A	probably damaging	Het
Akap9	T	C	5: 4,051,406 (GRCm39)	V1391A	probably damaging	Het
Akip1	A	G	7: 109,310,982 (GRCm39)	Y174C	probably damaging	Het
Aoc1l1	A	G	6: 48,952,554 (GRCm39)	I160V	probably benign	Het
Ap3b2	T	C	7: 81,113,898 (GRCm39)	T830A	unknown	Het
Aph1a	A	G	3: 95,802,876 (GRCm39)	T159A	probably damaging	Het
Ccdc146	T	C	5: 21,506,288 (GRCm39)	T718A	probably benign	Het
Cdk5r2	T	C	1: 74,894,981 (GRCm39)	L242P	probably damaging	Het
Cep97	T	A	16: 55,748,229 (GRCm39)	N67I	probably damaging	Het
Cgas	T	C	9: 78,340,484 (GRCm39)	D416G	probably benign	Het
Chic2	A	T	5: 75,172,140 (GRCm39)	W121R	possibly damaging	Het
Clock	A	G	5: 76,396,309 (GRCm39)	S147P	possibly damaging	Het
Cntnap5a	T	G	1: 116,016,940 (GRCm39)	S178A	probably benign	Het
Col11a2	C	A	17: 34,281,529 (GRCm39)		probably benign	Het
Col6a3	T	A	1: 90,757,936 (GRCm39)	H6L	probably damaging	Het
Cpne5	T	C	17: 29,423,667 (GRCm39)	N154D	probably benign	Het
Ctsz	T	G	2: 174,269,769 (GRCm39)	K273Q	probably benign	Het
Cybrd1	G	A	2: 70,960,104 (GRCm39)	V101M	probably benign	Het
Cyp2c23	T	A	19: 43,993,990 (GRCm39)	K459*	probably null	Het
Cyp4a31	A	T	4: 115,431,933 (GRCm39)	H419L	probably damaging	Het
D930020B18Rik	G	A	10: 121,477,879 (GRCm39)	V35M	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Dnah9	C	T	11: 65,928,316 (GRCm39)	V2118M	probably benign	Het
Ednra	C	T	8: 78,447,025 (GRCm39)	V18I	possibly damaging	Het
Elac1	T	C	18: 73,875,717 (GRCm39)	R105G	probably benign	Het
Exoc2	A	G	13: 31,006,644 (GRCm39)	S844P	probably benign	Het
Fam185a	A	T	5: 21,685,328 (GRCm39)		probably null	Het
Fam204a	A	G	19: 60,187,881 (GRCm39)	M233T	possibly damaging	Het
Fat1	C	A	8: 45,406,341 (GRCm39)	H1031N	probably benign	Het
Fat1	T	A	8: 45,491,386 (GRCm39)	Y3816N	probably damaging	Het
Fbxo38	C	T	18: 62,650,094 (GRCm39)	R621Q	probably benign	Het
Fhod3	C	A	18: 25,263,667 (GRCm39)	R1524S	probably damaging	Het
Fnip1	A	T	11: 54,378,561 (GRCm39)	R192W	probably damaging	Het
Frem3	T	A	8: 81,339,205 (GRCm39)	H499Q	probably damaging	Het
Gab2	C	T	7: 96,948,250 (GRCm39)	T280I	probably damaging	Het
Gdpgp1	A	G	7: 79,888,172 (GRCm39)	R68G	probably benign	Het
Gm10382	C	T	5: 125,466,624 (GRCm39)		probably benign	Het
Gmps	A	G	3: 63,908,938 (GRCm39)	H480R	probably benign	Het
Hecw1	G	A	13: 14,455,034 (GRCm39)	R674*	probably null	Het
Herc2	T	A	7: 55,807,257 (GRCm39)	F2478L	probably benign	Het
Homer2	C	T	7: 81,286,150 (GRCm39)	V21M	probably damaging	Het
Ifna9	A	G	4: 88,510,492 (GRCm39)	M44T	probably damaging	Het
Igfl3	A	G	7: 17,913,821 (GRCm39)	D57G	possibly damaging	Het
Jcad	T	C	18: 4,673,048 (GRCm39)	M270T	probably benign	Het
Kdm5b	T	C	1: 134,552,732 (GRCm39)	L1236P	probably damaging	Het
Kif14	T	A	1: 136,414,096 (GRCm39)	L724Q	probably damaging	Het
Lhb	T	C	7: 45,070,757 (GRCm39)	V45A	probably damaging	Het
Lhpp	A	G	7: 132,235,816 (GRCm39)	N134D	probably benign	Het
Mas1	T	C	17: 13,061,078 (GRCm39)	Y115C	probably damaging	Het
Mgam	A	T	6: 40,638,234 (GRCm39)	K395*	probably null	Het
Mms22l	A	G	4: 24,598,807 (GRCm39)	N1134S	probably damaging	Het
Mrc1	A	G	2: 14,330,192 (GRCm39)		probably null	Het
Mrgprg	G	A	7: 143,318,281 (GRCm39)	S277L	probably damaging	Het
Mrpl49	G	T	19: 6,107,010 (GRCm39)	P60T	possibly damaging	Het
Mrps10	G	A	17: 47,683,377 (GRCm39)	G104D	possibly damaging	Het
Msantd3	A	G	4: 48,552,771 (GRCm39)	Y120C	probably damaging	Het
Mtcl2	A	G	2: 156,882,181 (GRCm39)	C624R	possibly damaging	Het
N4bp2	C	T	5: 65,951,861 (GRCm39)		probably benign	Het
Nbea	A	G	3: 55,550,310 (GRCm39)	V2706A	probably benign	Het
Nfic	T	A	10: 81,256,518 (GRCm39)	M71L	possibly damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or12e1	A	G	2: 87,022,222 (GRCm39)	T64A	possibly damaging	Het
Or14j4	G	T	17: 37,920,803 (GRCm39)	P280T	probably damaging	Het
Or4a15	A	G	2: 89,192,933 (GRCm39)	L280P	probably damaging	Het
Or4c105	T	A	2: 88,648,280 (GRCm39)	V255E	probably benign	Het
Pak5	T	C	2: 135,927,508 (GRCm39)	I655V	possibly damaging	Het
Pip5k1c	A	G	10: 81,142,153 (GRCm39)	N121S	probably damaging	Het
Plce1	A	T	19: 38,748,521 (GRCm39)	I1737F	probably damaging	Het
Prrt1	T	C	17: 34,849,925 (GRCm39)	L113P	probably damaging	Het
Ptprq	T	A	10: 107,479,860 (GRCm39)	T1137S	probably benign	Het
Recql5	T	C	11: 115,814,135 (GRCm39)	I223V	probably benign	Het
Reg3g	A	T	6: 78,444,836 (GRCm39)	Y47*	probably null	Het
Rgs12	T	G	5: 35,123,165 (GRCm39)	M316R	probably damaging	Het
Ric1	T	C	19: 29,580,068 (GRCm39)	S1290P	probably benign	Het
Rpl36al	A	G	12: 69,229,697 (GRCm39)	C72R	probably damaging	Het
Rplp0	T	A	5: 115,701,374 (GRCm39)	F275L	possibly damaging	Het
Rpp30	G	A	19: 36,064,793 (GRCm39)	V89I	probably benign	Het
Ryr3	A	G	2: 112,539,482 (GRCm39)	F3253L	possibly damaging	Het
Serpina3n	A	T	12: 104,375,203 (GRCm39)	N92Y	probably benign	Het
Setd7	G	T	3: 51,450,252 (GRCm39)	T58N	probably benign	Het
Sh3tc2	T	A	18: 62,144,954 (GRCm39)	L1136Q	probably damaging	Het
Slc35b4	G	A	6: 34,135,440 (GRCm39)	Q291*	probably null	Het
Sort1	A	G	3: 108,248,011 (GRCm39)	N452S	probably benign	Het
Sympk	A	G	7: 18,763,070 (GRCm39)	I46V	probably benign	Het
Syngr2	T	C	11: 117,703,364 (GRCm39)	V60A	probably damaging	Het
Syt17	A	T	7: 118,007,341 (GRCm39)	F318I	probably benign	Het
Tdpoz8	T	A	3: 92,981,729 (GRCm39)	L249H	probably damaging	Het
Tgfb1	T	A	7: 25,391,891 (GRCm39)	L149M	probably damaging	Het
Ticam1	A	T	17: 56,578,897 (GRCm39)	M66K	probably benign	Het
Tmem131	G	T	1: 36,847,008 (GRCm39)	D1363E	probably benign	Het
Tns4	A	C	11: 98,970,926 (GRCm39)	D261E	probably damaging	Het
Trim30a	T	C	7: 104,078,417 (GRCm39)	N220D	probably benign	Het
Trmt10a	T	C	3: 137,862,481 (GRCm39)	L257P	probably damaging	Het
Troap	G	T	15: 98,973,233 (GRCm39)		probably benign	Het
Ttc6	T	C	12: 57,751,338 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vav1	A	C	17: 57,631,750 (GRCm39)	K775T	probably damaging	Het
Vmn1r236	A	G	17: 21,507,673 (GRCm39)	K264E	possibly damaging	Het
Vmn1r84	A	G	7: 12,096,555 (GRCm39)	V46A	probably benign	Het
Wdr59	A	T	8: 112,185,649 (GRCm39)	W835R	probably damaging	Het
Zfp513	T	G	5: 31,357,767 (GRCm39)	K202T	probably damaging	Het
Zfp7	T	G	15: 76,775,977 (GRCm39)	I673S	probably benign	Het
Zmynd11	A	G	13: 9,748,737 (GRCm39)	I108T	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
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
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'- GACTTGGAAGGCAGGTGCTC -3'
(R):5'- GCCTCTGTGTGCACATGTG -3'

Sequencing Primer
(F):5'- CAGGTGCTCAAAACAGAGTTATC -3'
(R):5'- CACATGTGTGTATGGGATGAAAC -3'

Posted On

2014-06-30