Mutagenetix > Incidental Mutation

Incidental Mutation 'R0078:Dtna'

19580

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

038365-MU

Accession Numbers

Essential gene?

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

Stock #

R0078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23548192-23792772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23754499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 438 (A438T)

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 damaging
Transcript: ENSMUST00000115832
AA Change: A381T

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

SMART Domains

Protein: ENSMUSP00000111498
Gene: ENSMUSG00000024302
AA Change: A381T

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 damaging
Transcript: ENSMUST00000220904
AA Change: A438T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221880
AA Change: A438T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Meta Mutation Damage Score

0.2078

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.2%

Validation Efficiency

81% (203/250)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,891,129 (GRCm39)	Q456L	probably benign	Het
Abcf1	A	G	17: 36,268,954 (GRCm39)		probably benign	Het
Adamts7	A	T	9: 90,061,464 (GRCm39)	S357C	probably damaging	Het
Ankrd26	A	G	6: 118,512,030 (GRCm39)		probably benign	Het
Asb17	T	A	3: 153,550,301 (GRCm39)	V111E	probably damaging	Het
C1qtnf4	C	A	2: 90,719,893 (GRCm39)	N55K	probably damaging	Het
Cacng5	G	T	11: 107,768,259 (GRCm39)	D249E	probably benign	Het
Camkk2	C	A	5: 122,895,622 (GRCm39)		probably null	Het
Ccdc27	T	G	4: 154,120,195 (GRCm39)		probably benign	Het
Cfap251	G	A	5: 123,436,633 (GRCm39)	R1054H	probably benign	Het
Cngb1	T	A	8: 95,991,173 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,803,981 (GRCm39)		probably benign	Het
Corin	T	A	5: 72,611,816 (GRCm39)	D148V	possibly damaging	Het
Cstdc1	T	A	2: 148,627,745 (GRCm39)	*131K	probably null	Het
Defb26	A	C	2: 152,349,988 (GRCm39)	D97E	possibly damaging	Het
Dgkb	A	G	12: 38,186,540 (GRCm39)	N237D	probably benign	Het
Dsp	A	G	13: 38,379,993 (GRCm39)	N1647S	probably benign	Het
Erbb3	G	T	10: 128,419,310 (GRCm39)	F219L	probably damaging	Het
EU599041	G	A	7: 42,875,275 (GRCm39)		noncoding transcript	Het
Fat1	A	G	8: 45,406,336 (GRCm39)	N1029S	probably damaging	Het
Fat4	T	C	3: 38,943,080 (GRCm39)	S658P	probably benign	Het
Fgfr2	C	T	7: 129,802,805 (GRCm39)	D168N	possibly damaging	Het
Fstl5	T	A	3: 76,566,952 (GRCm39)		probably benign	Het
Glmn	C	T	5: 107,705,836 (GRCm39)	V451I	probably benign	Het
Gm9938	T	A	19: 23,701,988 (GRCm39)		probably benign	Het
Gpat2	T	C	2: 127,270,169 (GRCm39)	S61P	probably damaging	Het
Gpr22	T	A	12: 31,761,640 (GRCm39)	M6L	probably benign	Het
Grm5	T	C	7: 87,724,185 (GRCm39)	L825P	probably damaging	Het
Gstz1	A	T	12: 87,206,477 (GRCm39)	I66F	probably benign	Het
H2-T22	A	G	17: 36,351,501 (GRCm39)	V243A	probably damaging	Het
H2-T5	A	T	17: 36,476,353 (GRCm39)	S304T	possibly damaging	Het
Hivep1	C	T	13: 42,309,517 (GRCm39)	L586F	probably damaging	Het
Hmcn2	T	G	2: 31,278,356 (GRCm39)	L1686R	probably damaging	Het
Ice1	T	C	13: 70,751,467 (GRCm39)	R1540G	probably damaging	Het
Igha	T	A	12: 113,223,547 (GRCm39)		probably benign	Het
Kif3a	C	A	11: 53,469,812 (GRCm39)	T141K	probably benign	Het
Knl1	G	A	2: 118,900,373 (GRCm39)	M691I	probably benign	Het
L3mbtl1	T	C	2: 162,789,146 (GRCm39)	V13A	probably benign	Het
Lamc1	T	A	1: 153,104,936 (GRCm39)	N1282I	probably damaging	Het
Lemd2	G	T	17: 27,422,702 (GRCm39)	L231I	probably benign	Het
Lrrk2	G	A	15: 91,618,212 (GRCm39)	V904M	probably benign	Het
Lyzl6	C	T	11: 103,524,795 (GRCm39)	S103N	probably benign	Het
Macf1	T	A	4: 123,367,661 (GRCm39)	R2367W	probably damaging	Het
Mapk3	T	C	7: 126,358,977 (GRCm39)	Y54H	probably damaging	Het
Mlh3	A	T	12: 85,315,592 (GRCm39)	V198D	probably damaging	Het
Myocd	T	C	11: 65,078,290 (GRCm39)	S374G	possibly damaging	Het
Ngef	T	C	1: 87,468,387 (GRCm39)	E124G	probably benign	Het
Nhsl3	T	C	4: 129,121,516 (GRCm39)		probably null	Het
Nr4a2	T	C	2: 57,002,240 (GRCm39)	Y8C	probably damaging	Het
Nynrin	T	A	14: 56,100,789 (GRCm39)	V193D	probably damaging	Het
Or10ak9	T	A	4: 118,726,424 (GRCm39)	S148T	probably benign	Het
Or10w1	G	T	19: 13,632,179 (GRCm39)	V129F	probably benign	Het
Or1p1	A	T	11: 74,180,092 (GRCm39)	I207F	probably damaging	Het
Or4k36	A	T	2: 111,146,249 (GRCm39)	I142F	probably benign	Het
Or6d15	A	G	6: 116,559,701 (GRCm39)	S69P	probably damaging	Het
Pcdh18	T	C	3: 49,710,793 (GRCm39)	Y174C	probably damaging	Het
Pcf11	T	C	7: 92,318,767 (GRCm39)	D21G	possibly damaging	Het
Pdia4	A	C	6: 47,775,344 (GRCm39)	F489V	possibly damaging	Het
Pitrm1	C	T	13: 6,625,068 (GRCm39)	P849S	probably damaging	Het
Plcz1	T	C	6: 139,935,510 (GRCm39)	Y644C	probably damaging	Het
Ppp5c	T	C	7: 16,761,650 (GRCm39)	E28G	probably benign	Het
Prkcb	A	G	7: 122,189,393 (GRCm39)	Y507C	probably damaging	Het
Rims2	A	G	15: 39,398,251 (GRCm39)	D1072G	probably benign	Het
Scarf1	A	G	11: 75,405,988 (GRCm39)		probably benign	Het
Scoc	T	A	8: 84,184,887 (GRCm39)		probably null	Het
Sh2d4a	A	T	8: 68,734,973 (GRCm39)	M31L	probably damaging	Het
Spta1	T	A	1: 174,034,598 (GRCm39)		probably benign	Het
Stard7	A	G	2: 127,134,127 (GRCm39)	Y270C	probably damaging	Het
Svs3b	T	C	2: 164,097,881 (GRCm39)	T147A	probably benign	Het
Tmtc3	A	G	10: 100,284,823 (GRCm39)	L604P	probably damaging	Het
Trim30b	A	T	7: 104,015,102 (GRCm39)	N95K	probably benign	Het
Trpm8	C	A	1: 88,255,870 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 127,943,448 (GRCm39)		probably null	Het
Tubgcp5	C	T	7: 55,468,643 (GRCm39)	R713C	probably damaging	Het
Tyro3	A	T	2: 119,647,487 (GRCm39)	Q872L	probably damaging	Het
Vmn1r204	G	A	13: 22,740,379 (GRCm39)	M3I	probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Wdfy3	A	G	5: 102,035,971 (GRCm39)	I2149T	possibly damaging	Het
Zfp668	A	T	7: 127,467,210 (GRCm39)	M122K	possibly damaging	Het
Zkscan1	A	T	5: 138,091,363 (GRCm39)	D32V	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
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
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'- GCCTCACATCAGATCATGTCATGAACC -3'
(R):5'- AGCTGGGAGTACATTACCAAGCTACC -3'

Sequencing Primer
(F):5'- CAGATCATGTCATGAACCCAAATTG -3'
(R):5'- CAAGCTACCATGATTATGGCACC -3'

Posted On

2013-04-11