Mutagenetix > Incidental Mutation

Incidental Mutation 'R1242:Dtnb'

152047

Institutional Source

Beutler Lab

Gene Symbol

Dtnb

Ensembl Gene

ENSMUSG00000071454

Gene Name

dystrobrevin, beta

Synonyms

MMRRC Submission

039309-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1242 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3622381-3831796 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 3782627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 363 (Y363*)

Ref Sequence

ENSEMBL: ENSMUSP00000134146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077930] [ENSMUST00000101637] [ENSMUST00000164578] [ENSMUST00000164607] [ENSMUST00000173199] [ENSMUST00000173240] [ENSMUST00000174547] [ENSMUST00000174663] [ENSMUST00000174109] [ENSMUST00000174290] [ENSMUST00000173483] [ENSMUST00000174639] [ENSMUST00000173736]

AlphaFold

O70585

Predicted Effect

probably null
Transcript: ENSMUST00000077930
AA Change: Y363*

SMART Domains

Protein: ENSMUSP00000077085
Gene: ENSMUSG00000071454
AA Change: Y363*

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	1.7e-40	PFAM
Pfam:EF-hand_3	144	232	1.1e-38	PFAM
ZnF_ZZ	237	282	3.29e-15	SMART
low complexity region	403	416	N/A	INTRINSIC
coiled coil region	429	519	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000101637
AA Change: Y363*

SMART Domains

Protein: ENSMUSP00000099161
Gene: ENSMUSG00000071454
AA Change: Y363*

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	1.8e-40	PFAM
Pfam:EF-hand_3	144	232	1.1e-38	PFAM
ZnF_ZZ	237	282	3.29e-15	SMART
SCOP:d1eq1a_	364	524	8e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000164578
AA Change: Y363*

SMART Domains

Protein: ENSMUSP00000126194
Gene: ENSMUSG00000071454
AA Change: Y363*

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	16	140	7.9e-38	PFAM
Pfam:EF-hand_3	144	232	2.1e-33	PFAM
ZnF_ZZ	237	282	3.29e-15	SMART
low complexity region	403	416	N/A	INTRINSIC
coiled coil region	429	519	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000164607
AA Change: Y363*

SMART Domains

Protein: ENSMUSP00000128230
Gene: ENSMUSG00000071454
AA Change: Y363*

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	2.1e-40	PFAM
Pfam:EF-hand_3	144	232	1.5e-38	PFAM
ZnF_ZZ	237	282	3.29e-15	SMART
low complexity region	403	416	N/A	INTRINSIC
coiled coil region	429	519	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172598
AA Change: Y176*

SMART Domains

Protein: ENSMUSP00000134124
Gene: ENSMUSG00000071454
AA Change: Y176*

Domain	Start	End	E-Value	Type
Pfam:EF-hand_3	1	46	7.7e-15	PFAM
ZnF_ZZ	51	96	3.29e-15	SMART
low complexity region	217	230	N/A	INTRINSIC
coiled coil region	242	332	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173199
AA Change: Y363*

SMART Domains

Protein: ENSMUSP00000134392
Gene: ENSMUSG00000071454
AA Change: Y363*

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	2e-40	PFAM
Pfam:EF-hand_3	144	232	1.6e-38	PFAM
ZnF_ZZ	237	282	3.29e-15	SMART
SCOP:d1eq1a_	364	524	9e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173240

SMART Domains

Protein: ENSMUSP00000133722
Gene: ENSMUSG00000071454

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	1.8e-40	PFAM
Pfam:EF-hand_3	144	232	1.3e-38	PFAM
ZnF_ZZ	237	282	3.29e-15	SMART
low complexity region	373	386	N/A	INTRINSIC
SCOP:d1eq1a_	404	494	8e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000174547
AA Change: Y363*

SMART Domains

Protein: ENSMUSP00000133927
Gene: ENSMUSG00000071454
AA Change: Y363*

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	2e-40	PFAM
Pfam:EF-hand_3	144	232	1.4e-38	PFAM
ZnF_ZZ	237	282	3.29e-15	SMART
SCOP:d1eq1a_	364	524	5e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000174663
AA Change: Y363*

SMART Domains

Protein: ENSMUSP00000134146
Gene: ENSMUSG00000071454
AA Change: Y363*

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	2.2e-40	PFAM
Pfam:EF-hand_3	144	232	1.5e-38	PFAM
ZnF_ZZ	237	282	3.29e-15	SMART
SCOP:d1eq1a_	364	524	4e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173498

Predicted Effect

probably benign
Transcript: ENSMUST00000174109

SMART Domains

Protein: ENSMUSP00000134151
Gene: ENSMUSG00000071454

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	132	1.1e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174290

SMART Domains

Protein: ENSMUSP00000133697
Gene: ENSMUSG00000071454

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	6e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173483

SMART Domains

Protein: ENSMUSP00000134390
Gene: ENSMUSG00000071454

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	61	7.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174639

SMART Domains

Protein: ENSMUSP00000133601
Gene: ENSMUSG00000071454

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	123	6.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173736

SMART Domains

Protein: ENSMUSP00000134519
Gene: ENSMUSG00000071454

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	1.8e-40	PFAM
Pfam:EF-hand_3	144	232	1.3e-38	PFAM
ZnF_ZZ	237	282	3.29e-15	SMART
low complexity region	373	386	N/A	INTRINSIC
coiled coil region	399	489	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes dystrobrevin beta, a component of the dystrophin-associated protein complex (DPC). The DPC consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and dystrobrevin alpha and beta. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Dystrobrevin beta is thought to interact with syntrophin and the DP71 short form of dystrophin. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show no obvious histological or functional abnormalities in liver and kidney. Mice homozygous for a gene trapped allele are viable, fertile and overtly normal with no significant synaptic or behavioral defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs7	A	G	3: 36,632,576 (GRCm39)	F549L	probably damaging	Het
Cmc2	T	C	8: 117,637,937 (GRCm39)	D4G	probably damaging	Het
Cnr2	T	A	4: 135,644,294 (GRCm39)	L124Q	probably damaging	Het
Cobll1	T	C	2: 64,981,513 (GRCm39)		probably null	Het
Defb30	A	T	14: 63,273,455 (GRCm39)	Y53N	probably damaging	Het
Fam170a	A	G	18: 50,415,206 (GRCm39)	E284G	probably damaging	Het
Gm16505	T	A	13: 3,411,109 (GRCm39)		noncoding transcript	Het
Gtf2h1	T	C	7: 46,462,175 (GRCm39)		probably null	Het
Gucy1a1	C	T	3: 82,013,260 (GRCm39)		probably null	Het
Hfm1	T	A	5: 107,022,767 (GRCm39)	N945I	probably damaging	Het
Hpse2	G	A	19: 42,955,416 (GRCm39)	T327I	probably benign	Het
Il3	T	C	11: 54,157,929 (GRCm39)	I50V	probably benign	Het
Mgat5b	A	G	11: 116,869,230 (GRCm39)	K591R	probably benign	Het
Nup214	C	T	2: 31,867,782 (GRCm39)	T83I	probably benign	Het
Or2v2	A	T	11: 49,003,728 (GRCm39)	V275E	possibly damaging	Het
Rp1	T	A	1: 4,415,185 (GRCm39)	I1976F	probably benign	Het
Sardh	T	A	2: 27,125,575 (GRCm39)	D313V	probably damaging	Het
Tent5c	A	T	3: 100,380,192 (GRCm39)	L188Q	probably damaging	Het
Vmn1r173	C	T	7: 23,402,650 (GRCm39)	P295L	probably damaging	Het
Vmn1r38	A	C	6: 66,753,344 (GRCm39)	Y257*	probably null	Het
Xkr4	T	A	1: 3,286,360 (GRCm39)	D610V	probably damaging	Het

Other mutations in Dtnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:Dtnb	APN	12	3,782,626 (GRCm39)	missense	probably benign	0.00
IGL02269:Dtnb	APN	12	3,646,691 (GRCm39)	missense	probably damaging	1.00
IGL02710:Dtnb	APN	12	3,698,380 (GRCm39)	missense	possibly damaging	0.93
R0004:Dtnb	UTSW	12	3,646,635 (GRCm39)	splice site	probably benign
R0449:Dtnb	UTSW	12	3,641,971 (GRCm39)	nonsense	probably null
R0601:Dtnb	UTSW	12	3,785,039 (GRCm39)	splice site	probably benign
R1582:Dtnb	UTSW	12	3,823,554 (GRCm39)	missense	possibly damaging	0.78
R1719:Dtnb	UTSW	12	3,693,936 (GRCm39)	nonsense	probably null
R1960:Dtnb	UTSW	12	3,831,190 (GRCm39)	missense	probably benign	0.34
R2073:Dtnb	UTSW	12	3,831,273 (GRCm39)	missense	probably benign
R2074:Dtnb	UTSW	12	3,831,273 (GRCm39)	missense	probably benign
R3423:Dtnb	UTSW	12	3,641,962 (GRCm39)	nonsense	probably null
R3708:Dtnb	UTSW	12	3,639,156 (GRCm39)	splice site	probably null
R4788:Dtnb	UTSW	12	3,822,699 (GRCm39)	missense	probably damaging	1.00
R4816:Dtnb	UTSW	12	3,799,505 (GRCm39)	missense	probably damaging	0.99
R5086:Dtnb	UTSW	12	3,682,942 (GRCm39)	missense	probably benign	0.19
R5725:Dtnb	UTSW	12	3,823,566 (GRCm39)	missense	probably damaging	1.00
R6724:Dtnb	UTSW	12	3,736,817 (GRCm39)	missense	probably damaging	1.00
R6835:Dtnb	UTSW	12	3,682,841 (GRCm39)	intron	probably benign
R6912:Dtnb	UTSW	12	3,698,221 (GRCm39)	critical splice acceptor site	probably null
R7078:Dtnb	UTSW	12	3,798,480 (GRCm39)	missense	possibly damaging	0.80
R7105:Dtnb	UTSW	12	3,698,391 (GRCm39)	critical splice donor site	probably null
R7408:Dtnb	UTSW	12	3,694,272 (GRCm39)	splice site	probably null
R7538:Dtnb	UTSW	12	3,823,611 (GRCm39)	missense	possibly damaging	0.80
R8239:Dtnb	UTSW	12	3,694,056 (GRCm39)	missense	unknown
R9082:Dtnb	UTSW	12	3,822,740 (GRCm39)	missense	possibly damaging	0.49
R9550:Dtnb	UTSW	12	3,768,437 (GRCm39)	missense	possibly damaging	0.80
R9742:Dtnb	UTSW	12	3,736,740 (GRCm39)	missense	possibly damaging	0.95
X0026:Dtnb	UTSW	12	3,736,814 (GRCm39)	missense	probably damaging	1.00
X0060:Dtnb	UTSW	12	3,646,690 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGAGTCCACAACCTGGGCAGAAC -3'
(R):5'- GCTCCTTCCCTTGTGAAAGCCAATG -3'

Sequencing Primer
(F):5'- CTCCATTCAGGACAAGTTTCAG -3'
(R):5'- CCTTGTGAAAGCCAATGCTTTG -3'

Posted On

2014-01-29