Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Dtnb'

369831

Institutional Source

Beutler Lab

Gene Symbol

Dtnb

Ensembl Gene

ENSMUSG00000071454

Gene Name

dystrobrevin, beta

Synonyms

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3622381-3831796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3799505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 460 (E460G)

Ref Sequence

ENSEMBL: ENSMUSP00000134146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077930] [ENSMUST00000101637] [ENSMUST00000164578] [ENSMUST00000164607] [ENSMUST00000173199] [ENSMUST00000174663] [ENSMUST00000174547] [ENSMUST00000173240] [ENSMUST00000173736] [ENSMUST00000174109] [ENSMUST00000174290] [ENSMUST00000174639] [ENSMUST00000173483] [ENSMUST00000173542]

AlphaFold

O70585

Predicted Effect

probably damaging
Transcript: ENSMUST00000077930
AA Change: E460G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077085
Gene: ENSMUSG00000071454
AA Change: E460G

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 damaging
Transcript: ENSMUST00000101637
AA Change: E460G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099161
Gene: ENSMUSG00000071454
AA Change: E460G

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 damaging
Transcript: ENSMUST00000164578
AA Change: E460G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126194
Gene: ENSMUSG00000071454
AA Change: E460G

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 damaging
Transcript: ENSMUST00000164607
AA Change: E460G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128230
Gene: ENSMUSG00000071454
AA Change: E460G

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: ENSMUST00000172504

Predicted Effect

unknown
Transcript: ENSMUST00000172598
AA Change: E273G

SMART Domains

Protein: ENSMUSP00000134124
Gene: ENSMUSG00000071454
AA Change: E273G

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

possibly damaging
Transcript: ENSMUST00000173199
AA Change: E460G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134392
Gene: ENSMUSG00000071454
AA Change: E460G

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 damaging
Transcript: ENSMUST00000174663
AA Change: E460G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134146
Gene: ENSMUSG00000071454
AA Change: E460G

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 damaging
Transcript: ENSMUST00000174547
AA Change: E460G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133927
Gene: ENSMUSG00000071454
AA Change: E460G

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 damaging
Transcript: ENSMUST00000173240
AA Change: E430G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133722
Gene: ENSMUSG00000071454
AA Change: E430G

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

possibly damaging
Transcript: ENSMUST00000173736
AA Change: E430G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134519
Gene: ENSMUSG00000071454
AA Change: E430G

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: ENSMUST00000173847

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: 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: 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: ENSMUST00000173542

SMART Domains

Protein: ENSMUSP00000134036
Gene: ENSMUSG00000071454

Domain	Start	End	E-Value	Type
coiled coil region	1	55	N/A	INTRINSIC

Meta Mutation Damage Score

0.1177

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,754,131 (GRCm39)	A1562S	probably benign	Het
Adam30	C	A	3: 98,070,061 (GRCm39)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,676,793 (GRCm39)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,740,995 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,269 (GRCm39)		probably benign	Het
Bicra	T	C	7: 15,722,831 (GRCm39)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,873,190 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,040,226 (GRCm39)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,043,007 (GRCm39)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdcp2	A	G	4: 106,963,969 (GRCm39)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,244,856 (GRCm39)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,386,529 (GRCm39)	I39N	probably damaging	Het
Cep152	A	C	2: 125,405,674 (GRCm39)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,195,108 (GRCm39)	I42T	probably damaging	Het
Cfap61	G	T	2: 145,985,020 (GRCm39)	V955L	probably damaging	Het
Cit	G	A	5: 116,046,750 (GRCm39)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Cntn4	A	T	6: 106,527,458 (GRCm39)	I447L	probably benign	Het
Csmd3	T	C	15: 47,721,330 (GRCm39)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,214,905 (GRCm39)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,625,186 (GRCm39)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,466,779 (GRCm39)	T550S	probably benign	Het
Dus1l	GAGGTAAG	GAG	11: 120,680,584 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,927 (GRCm39)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,689,001 (GRCm39)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,942,874 (GRCm39)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,709,567 (GRCm39)	A196V	probably benign	Het
Gbp3	T	C	3: 142,273,335 (GRCm39)	V294A	probably damaging	Het
Gls	A	G	1: 52,239,104 (GRCm39)		probably benign	Het
Gm15130	A	T	2: 110,965,714 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,040,728 (GRCm39)		noncoding transcript	Het
Gpr171	T	A	3: 59,005,517 (GRCm39)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,230,074 (GRCm39)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,502,794 (GRCm39)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,900,135 (GRCm39)	M60T	probably benign	Het
H2-M5	A	G	17: 37,300,309 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,902,984 (GRCm39)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,142,654 (GRCm39)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,334,288 (GRCm39)	T313A	probably benign	Het
Kalrn	C	T	16: 34,334,389 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,610,661 (GRCm39)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,272,104 (GRCm39)	C242*	probably null	Het
Lipe	A	G	7: 25,079,568 (GRCm39)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 71,070,726 (GRCm39)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,362,515 (GRCm39)		probably null	Het
Lrrd1	T	A	5: 3,901,126 (GRCm39)	L477*	probably null	Het
Lrriq4	A	G	3: 30,714,196 (GRCm39)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,030,840 (GRCm39)	Y1248C	unknown	Het
Maml1	G	T	11: 50,149,162 (GRCm39)	N859K	possibly damaging	Het
Mdm1	A	T	10: 117,982,782 (GRCm39)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,075,397 (GRCm39)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,101,848 (GRCm39)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,494,923 (GRCm39)	V405A	probably damaging	Het
Naip5	G	A	13: 100,356,195 (GRCm39)	T1140M	probably benign	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,356,189 (GRCm39)	S1142F	probably benign	Het
Nfe2l3	T	C	6: 51,433,604 (GRCm39)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,439,127 (GRCm39)	I235V	probably benign	Het
Nyap2	T	A	1: 81,219,028 (GRCm39)	L318Q	probably damaging	Het
Nynrin	G	A	14: 56,109,458 (GRCm39)	V1522M	probably damaging	Het
Oog3	A	G	4: 143,885,731 (GRCm39)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,319,942 (GRCm39)	P11L	probably benign	Het
Or5b107	A	G	19: 13,142,488 (GRCm39)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,627,308 (GRCm39)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,684,726 (GRCm39)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,630,391 (GRCm39)	N74K	probably benign	Het
Pax6	T	C	2: 105,514,129 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,832,405 (GRCm39)	R1441K	probably benign	Het
Pcdha9	C	T	18: 37,132,511 (GRCm39)	R527W	probably damaging	Het
Pcdhb17	T	C	18: 37,620,450 (GRCm39)	S747P	probably benign	Het
Pcnx3	A	C	19: 5,738,023 (GRCm39)		probably null	Het
Pds5a	A	T	5: 65,808,632 (GRCm39)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,464,332 (GRCm39)		probably benign	Het
Phykpl	A	G	11: 51,483,780 (GRCm39)	E220G	probably benign	Het
Pias2	T	C	18: 77,193,587 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,269,639 (GRCm39)	I3302L	probably damaging	Het
Poli	A	G	18: 70,655,822 (GRCm39)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,515,284 (GRCm39)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,588,997 (GRCm39)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,359,058 (GRCm39)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,872,644 (GRCm39)	F59S	probably benign	Het
Sanbr	A	C	11: 23,565,243 (GRCm39)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,651,095 (GRCm39)	T412I	probably benign	Het
Shank2	C	A	7: 143,606,043 (GRCm39)	N75K	probably damaging	Het
Shank3	T	A	15: 89,427,318 (GRCm39)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm39)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,760,623 (GRCm39)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,226,362 (GRCm39)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm39)	T292A	probably benign	Het
Spag9	T	C	11: 93,939,425 (GRCm39)		probably benign	Het
Tas2r113	C	T	6: 132,870,745 (GRCm39)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,029,567 (GRCm39)	S530G	probably benign	Het
Tenm2	A	G	11: 35,918,117 (GRCm39)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,878,606 (GRCm39)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,414,646 (GRCm39)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,972,264 (GRCm39)	E195V	probably damaging	Het
Try5	T	C	6: 41,290,349 (GRCm39)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,428,953 (GRCm39)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,743,711 (GRCm39)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,887,780 (GRCm39)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,251,599 (GRCm39)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,605,074 (GRCm39)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,758,743 (GRCm39)	T642I	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
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
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'- CTTGAAAAGAACGTCACCAGTGG -3'
(R):5'- GTTCTGACGTCAGGTTCTACTG -3'

Sequencing Primer
(F):5'- CCTCAGGAGCCATCAGGTGAAG -3'
(R):5'- GGTTCTACTGATGAACAGATTCTGTC -3'

Posted On

2016-02-04