Mutagenetix > Incidental Mutation

Incidental Mutation 'R1719:Dtnb'

191316

Institutional Source

Beutler Lab

Gene Symbol

Dtnb

Ensembl Gene

ENSMUSG00000071454

Gene Name

dystrobrevin, beta

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1719 (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 3693936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 56 (Y56*)

Ref Sequence

ENSEMBL: ENSMUSP00000134390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077930] [ENSMUST00000101637] [ENSMUST00000164578] [ENSMUST00000164607] [ENSMUST00000173199] [ENSMUST00000173483] [ENSMUST00000173240] [ENSMUST00000174479] [ENSMUST00000174663] [ENSMUST00000174547] [ENSMUST00000173736] [ENSMUST00000174109] [ENSMUST00000174290] [ENSMUST00000174639]

AlphaFold

O70585

Predicted Effect

probably benign
Transcript: ENSMUST00000077930
AA Change: M208K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000077085
Gene: ENSMUSG00000071454
AA Change: M208K

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 benign
Transcript: ENSMUST00000101637
AA Change: M208K

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099161
Gene: ENSMUSG00000071454
AA Change: M208K

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 benign
Transcript: ENSMUST00000164578
AA Change: M208K

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126194
Gene: ENSMUSG00000071454
AA Change: M208K

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 benign
Transcript: ENSMUST00000164607
AA Change: M208K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128230
Gene: ENSMUSG00000071454
AA Change: M208K

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

noncoding transcript
Transcript: ENSMUST00000168806

Predicted Effect

unknown
Transcript: ENSMUST00000172598
AA Change: M21K

SMART Domains

Protein: ENSMUSP00000134124
Gene: ENSMUSG00000071454
AA Change: M21K

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 benign
Transcript: ENSMUST00000173199
AA Change: M208K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134392
Gene: ENSMUSG00000071454
AA Change: M208K

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 null
Transcript: ENSMUST00000173483
AA Change: Y56*

SMART Domains

Protein: ENSMUSP00000134390
Gene: ENSMUSG00000071454
AA Change: Y56*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173240
AA Change: M208K

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000133722
Gene: ENSMUSG00000071454
AA Change: M208K

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 benign
Transcript: ENSMUST00000174479
AA Change: M208K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133702
Gene: ENSMUSG00000071454
AA Change: M208K

Domain	Start	End	E-Value	Type
Pfam:EF-hand_2	14	140	3.9e-41	PFAM
Pfam:EF-hand_3	144	232	3.5e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174663
AA Change: M208K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134146
Gene: ENSMUSG00000071454
AA Change: M208K

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

probably benign
Transcript: ENSMUST00000174547
AA Change: M208K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000133927
Gene: ENSMUSG00000071454
AA Change: M208K

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 benign
Transcript: ENSMUST00000173736
AA Change: M208K

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134519
Gene: ENSMUSG00000071454
AA Change: M208K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173524

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: ENSMUST00000174639

SMART Domains

Protein: ENSMUSP00000133601
Gene: ENSMUSG00000071454

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	T	19: 31,904,526 (GRCm39)	K263M	probably damaging	Het
Adam26a	G	A	8: 44,023,073 (GRCm39)	T139M	possibly damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akap9	C	T	5: 4,007,645 (GRCm39)	Q238*	probably null	Het
Ankrd6	A	T	4: 32,828,774 (GRCm39)	V85E	probably damaging	Het
Ap2b1	C	A	11: 83,215,430 (GRCm39)	P125T	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cblc	A	T	7: 19,524,399 (GRCm39)	D280E	probably benign	Het
Cdk11b	T	C	4: 155,732,854 (GRCm39)		probably benign	Het
Cela2a	G	T	4: 141,545,257 (GRCm39)	F239L	probably damaging	Het
Cfap57	A	T	4: 118,463,828 (GRCm39)	C342S	probably benign	Het
Clca4a	C	A	3: 144,669,516 (GRCm39)	W345L	probably damaging	Het
Col6a5	T	C	9: 105,808,492 (GRCm39)	D852G	unknown	Het
Cyp4a32	T	C	4: 115,468,505 (GRCm39)	V329A	possibly damaging	Het
Dcaf8	C	T	1: 172,003,062 (GRCm39)	P287S	probably damaging	Het
Dmxl1	T	A	18: 50,067,704 (GRCm39)	D2654E	probably damaging	Het
Dpep1	A	T	8: 123,927,486 (GRCm39)	I347F	possibly damaging	Het
Duox1	T	C	2: 122,169,125 (GRCm39)	Y1182H	possibly damaging	Het
Dusp10	T	A	1: 183,769,422 (GRCm39)	S129R	probably benign	Het
Dync2i1	T	C	12: 116,219,532 (GRCm39)	I137V	probably benign	Het
Epcam	G	A	17: 87,949,556 (GRCm39)	R173Q	probably damaging	Het
Ephb3	A	G	16: 21,039,400 (GRCm39)	E384G	probably damaging	Het
Exosc10	A	T	4: 148,652,960 (GRCm39)	D525V	probably damaging	Het
Fam186a	T	A	15: 99,840,227 (GRCm39)	T2006S	possibly damaging	Het
Fbxw21	T	A	9: 108,977,242 (GRCm39)	T156S	possibly damaging	Het
Fcrl5	A	G	3: 87,364,704 (GRCm39)	E568G	probably damaging	Het
Fmn2	C	T	1: 174,436,024 (GRCm39)		probably benign	Het
Fut9	A	G	4: 25,619,744 (GRCm39)	F357L	possibly damaging	Het
Garre1	A	T	7: 33,947,631 (GRCm39)	M459K	probably damaging	Het
Gas2l1	G	A	11: 5,014,266 (GRCm39)	H65Y	probably damaging	Het
Gjd2	A	T	2: 113,843,614 (GRCm39)	M1K	probably null	Het
Hdgfl3	T	C	7: 81,549,432 (GRCm39)	Y149C	probably damaging	Het
Hmcn2	T	C	2: 31,244,733 (GRCm39)	V730A	probably damaging	Het
Inpp4a	A	T	1: 37,437,880 (GRCm39)	S223C	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Knl1	T	A	2: 118,902,219 (GRCm39)	W1307R	probably benign	Het
Kpna3	A	G	14: 61,624,926 (GRCm39)	L139P	probably damaging	Het
Lama3	T	C	18: 12,612,929 (GRCm39)		probably null	Het
Lin54	G	A	5: 100,633,108 (GRCm39)	P192L	possibly damaging	Het
Lpo	T	A	11: 87,700,018 (GRCm39)		probably null	Het
Lrrc37	T	A	11: 103,507,897 (GRCm39)		probably benign	Het
Lrrd1	T	G	5: 3,900,483 (GRCm39)		probably null	Het
Nbas	T	A	12: 13,610,978 (GRCm39)		probably null	Het
Nemp1	G	A	10: 127,532,117 (GRCm39)	G341D	probably damaging	Het
Nrp1	T	C	8: 129,152,366 (GRCm39)	F192L	probably damaging	Het
Nufip2	T	A	11: 77,583,916 (GRCm39)	V610E	probably damaging	Het
Nup160	T	G	2: 90,530,780 (GRCm39)	Y479*	probably null	Het
Oas1d	A	T	5: 121,058,025 (GRCm39)	D323V	possibly damaging	Het
Or10ak14	A	G	4: 118,610,797 (GRCm39)	W315R	possibly damaging	Het
Or14j1	A	G	17: 38,146,244 (GRCm39)	D118G	possibly damaging	Het
Or4c3d	T	C	2: 89,882,128 (GRCm39)	Y180C	probably damaging	Het
Or52e4	C	A	7: 104,706,001 (GRCm39)	H183N	probably damaging	Het
Or5ac22	T	A	16: 59,135,069 (GRCm39)	R234*	probably null	Het
Or8b3	G	A	9: 38,314,550 (GRCm39)	V127M	possibly damaging	Het
Or8c9	A	T	9: 38,241,803 (GRCm39)	T307S	probably benign	Het
Pcm1	T	A	8: 41,766,396 (GRCm39)	M1567K	possibly damaging	Het
Pdxk	A	G	10: 78,279,730 (GRCm39)	V215A	probably benign	Het
Phf12	T	A	11: 77,914,427 (GRCm39)	L74Q	probably damaging	Het
Plcg1	A	G	2: 160,595,663 (GRCm39)	E537G	probably null	Het
Plxna2	C	T	1: 194,326,678 (GRCm39)	P204L	possibly damaging	Het
Ppp3cb	T	G	14: 20,574,131 (GRCm39)	M236L	probably benign	Het
Qrsl1	A	T	10: 43,772,026 (GRCm39)	S55T	probably damaging	Het
Rbm5	T	C	9: 107,621,112 (GRCm39)		probably null	Het
Sipa1l2	A	G	8: 126,171,274 (GRCm39)	S1403P	probably damaging	Het
Sis	C	T	3: 72,872,937 (GRCm39)	C67Y	probably damaging	Het
Specc1	A	G	11: 62,019,218 (GRCm39)	I686V	possibly damaging	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Sprtn	C	A	8: 125,628,372 (GRCm39)	H154Q	probably damaging	Het
St7l	A	G	3: 104,778,303 (GRCm39)	T147A	probably benign	Het
Stab1	G	A	14: 30,867,985 (GRCm39)	Q1630*	probably null	Het
Stpg2	A	G	3: 138,937,960 (GRCm39)	D173G	probably benign	Het
Tcf20	G	A	15: 82,736,978 (GRCm39)	T1491I	probably benign	Het
Themis2	A	T	4: 132,516,960 (GRCm39)	I180N	possibly damaging	Het
Timd5	T	C	11: 46,417,121 (GRCm39)	L13P	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Ttn	A	G	2: 76,638,340 (GRCm39)	V13980A	probably damaging	Het
Ttn	C	T	2: 76,575,978 (GRCm39)	V24972M	probably damaging	Het
Usp5	A	T	6: 124,800,423 (GRCm39)	M286K	possibly damaging	Het
Vmn2r22	G	A	6: 123,614,802 (GRCm39)	R263C	possibly damaging	Het
Vmn2r71	T	G	7: 85,270,435 (GRCm39)	C534G	probably damaging	Het
Wnk2	C	T	13: 49,214,202 (GRCm39)	S1460N	possibly damaging	Het
Zfp445	G	A	9: 122,681,707 (GRCm39)	P745S	probably damaging	Het
Zfp957	C	T	14: 79,451,436 (GRCm39)	G121D	probably damaging	Het
Zscan4f	A	G	7: 11,135,254 (GRCm39)	E220G	possibly 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
R1242:Dtnb	UTSW	12	3,782,627 (GRCm39)	nonsense	probably null
R1582:Dtnb	UTSW	12	3,823,554 (GRCm39)	missense	possibly damaging	0.78
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'- TCCCTCACAGGACAGCAGAAATGG -3'
(R):5'- TGCCTGCAATCTCAGGGTGAAAG -3'

Sequencing Primer
(F):5'- CAGCTCTTTTTAGAGGCAGAATC -3'
(R):5'- TGTCATGCCAAGCAAATGTC -3'

Posted On

2014-05-14