Mutagenetix > Incidental Mutation

Incidental Mutation 'R7538:Dtnb'

583744

Institutional Source

Beutler Lab

Gene Symbol

Dtnb

Ensembl Gene

ENSMUSG00000071454

Gene Name

dystrobrevin, beta

Synonyms

MMRRC Submission

045610-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7538 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3622381-3831796 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3823611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 592 (M592T)

Ref Sequence

ENSEMBL: ENSMUSP00000126194 (fasta)

Gene Model

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

AlphaFold

O70585

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077930
AA Change: M592T

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077085
Gene: ENSMUSG00000071454
AA Change: M592T

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

possibly damaging
Transcript: ENSMUST00000101637
AA Change: M599T

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099161
Gene: ENSMUSG00000071454
AA Change: M599T

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

possibly damaging
Transcript: ENSMUST00000164578
AA Change: M592T

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126194
Gene: ENSMUSG00000071454
AA Change: M592T

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

possibly damaging
Transcript: ENSMUST00000164607
AA Change: M592T

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128230
Gene: ENSMUSG00000071454
AA Change: M592T

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 damaging
Transcript: ENSMUST00000172598
AA Change: M405T

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

SMART Domains

Protein: ENSMUSP00000134124
Gene: ENSMUSG00000071454
AA Change: M405T

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: M599T

PolyPhen 2 Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134392
Gene: ENSMUSG00000071454
AA Change: M599T

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 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

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

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: ENSMUST00000174547

SMART Domains

Protein: ENSMUSP00000133927
Gene: ENSMUSG00000071454

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: 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 damaging
Transcript: ENSMUST00000174663
AA Change: M599T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134146
Gene: ENSMUSG00000071454
AA Change: M599T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	C	A	9: 30,864,766 (GRCm39)	P419H	probably damaging	Het
Adgra3	C	T	5: 50,118,792 (GRCm39)	V919I	probably benign	Het
Akap12	G	A	10: 4,303,213 (GRCm39)	V113I	probably damaging	Het
Akr1d1	T	A	6: 37,513,043 (GRCm39)	I113K	probably benign	Het
Alx3	A	T	3: 107,511,680 (GRCm39)	I230F	probably damaging	Het
Apob	A	T	12: 8,052,219 (GRCm39)	D1220V	probably damaging	Het
Ascc3	T	C	10: 50,721,796 (GRCm39)	L2083P	probably damaging	Het
Atp10b	A	G	11: 43,116,373 (GRCm39)	I907V	probably benign	Het
B4galnt3	G	T	6: 120,271,384 (GRCm39)	S46*	probably null	Het
Bfsp1	A	C	2: 143,673,755 (GRCm39)		probably null	Het
Cant1	G	A	11: 118,302,291 (GRCm39)	R9W	possibly damaging	Het
Ccdc88a	A	T	11: 29,413,370 (GRCm39)	H636L	probably benign	Het
Cfi	G	A	3: 129,652,464 (GRCm39)	R297H	probably benign	Het
Cherp	T	A	8: 73,216,263 (GRCm39)	Q749L		Het
Clec10a	A	G	11: 70,060,604 (GRCm39)	D153G	probably benign	Het
Cnga1	T	C	5: 72,769,723 (GRCm39)	K99E	probably benign	Het
Cyp2r1	A	T	7: 114,162,002 (GRCm39)	V64D	probably damaging	Het
Dact3	T	A	7: 16,609,443 (GRCm39)	W32R	probably damaging	Het
Dennd4c	T	C	4: 86,692,753 (GRCm39)	C88R	probably damaging	Het
Dock8	A	T	19: 25,135,782 (GRCm39)	D1200V	probably damaging	Het
Drosha	C	G	15: 12,926,329 (GRCm39)	S1262W	probably damaging	Het
Eef2k	T	A	7: 120,491,215 (GRCm39)	V567E	probably benign	Het
Fem1b	A	G	9: 62,718,449 (GRCm39)	S47P	probably damaging	Het
Fryl	T	C	5: 73,180,019 (GRCm39)	E2864G	probably benign	Het
Fscn2	A	G	11: 120,258,152 (GRCm39)	N358S	possibly damaging	Het
Fsip2	T	C	2: 82,818,894 (GRCm39)	S4876P	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Grhl2	T	C	15: 37,328,603 (GRCm39)	Y410H	probably damaging	Het
Gucy2c	C	T	6: 136,686,742 (GRCm39)	G831D	probably damaging	Het
Hars1	A	T	18: 36,904,194 (GRCm39)	D228E	probably benign	Het
Hdhd5	T	C	6: 120,498,257 (GRCm39)	D114G	possibly damaging	Het
Kcna2	A	G	3: 107,011,884 (GRCm39)	Y155C	probably benign	Het
Klc1	A	G	12: 111,751,879 (GRCm39)	K441R	probably benign	Het
Kmt2a	A	G	9: 44,759,041 (GRCm39)	L936P	probably damaging	Het
Map3k6	T	C	4: 132,979,238 (GRCm39)	V1197A	probably benign	Het
Mthfsd	C	T	8: 121,825,525 (GRCm39)	A349T	probably benign	Het
Mtmr7	G	A	8: 41,050,427 (GRCm39)	R123W	probably damaging	Het
Muc16	T	A	9: 18,553,427 (GRCm39)	I4289F	probably benign	Het
Muc16	G	A	9: 18,566,747 (GRCm39)	T1924I	unknown	Het
Mybpc3	A	C	2: 90,950,832 (GRCm39)	D220A	probably damaging	Het
Neb	A	T	2: 52,146,587 (GRCm39)		probably null	Het
Nectin2	A	G	7: 19,464,544 (GRCm39)	W287R	probably damaging	Het
Nipsnap1	A	T	11: 4,834,089 (GRCm39)	T114S	probably damaging	Het
Nol9	T	C	4: 152,124,115 (GRCm39)	S102P	probably benign	Het
Olfml2b	A	T	1: 170,477,402 (GRCm39)	K179I	possibly damaging	Het
Or4a80	G	T	2: 89,582,665 (GRCm39)	P169H	probably damaging	Het
Pcnt	T	C	10: 76,235,773 (GRCm39)	M1403V	probably benign	Het
Phf7	T	C	14: 30,960,386 (GRCm39)	D284G	probably benign	Het
Pias3	A	G	3: 96,609,534 (GRCm39)	T319A	possibly damaging	Het
Pik3ip1	A	T	11: 3,283,558 (GRCm39)	I189F	probably damaging	Het
Pik3r1	T	A	13: 101,825,914 (GRCm39)	T371S	probably damaging	Het
Prmt7	A	G	8: 106,964,018 (GRCm39)	D304G	probably benign	Het
Prpf6	T	C	2: 181,294,248 (GRCm39)	V818A	probably benign	Het
Pstpip2	A	G	18: 77,959,305 (GRCm39)	E185G	probably damaging	Het
Ptprz1	T	G	6: 22,999,895 (GRCm39)	F662V	possibly damaging	Het
Rasgrp3	T	C	17: 75,803,411 (GRCm39)	F70L	probably benign	Het
Rcor1	A	T	12: 111,034,271 (GRCm39)		probably null	Het
Rnasel	A	G	1: 153,630,306 (GRCm39)	K274R	probably benign	Het
Rsbn1l	G	A	5: 21,101,455 (GRCm39)	T695I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema3a	T	C	5: 13,611,787 (GRCm39)	V351A	probably benign	Het
Serpina12	A	G	12: 104,004,587 (GRCm39)	L15P	unknown	Het
Siah1a	G	A	8: 87,451,840 (GRCm39)	R215C	probably benign	Het
Sin3a	T	A	9: 57,011,210 (GRCm39)	V489D	possibly damaging	Het
Slc22a17	A	G	14: 55,149,575 (GRCm39)	I208T	probably benign	Het
Slc36a4	G	A	9: 15,645,511 (GRCm39)	V313M	possibly damaging	Het
Sod1	T	A	16: 90,023,114 (GRCm39)	L145*	probably null	Het
Svep1	T	C	4: 58,053,260 (GRCm39)	N3362D	possibly damaging	Het
Taf4b	T	C	18: 14,946,602 (GRCm39)	L475P	probably damaging	Het
Telo2	G	T	17: 25,329,795 (GRCm39)	T239K	probably benign	Het
Trmt11	T	G	10: 30,436,870 (GRCm39)	D290A	probably damaging	Het
Trpc4	A	T	3: 54,225,516 (GRCm39)	D955V	possibly damaging	Het
Trpv6	T	C	6: 41,603,101 (GRCm39)	N257S	probably benign	Het
Usp12	T	C	5: 146,731,430 (GRCm39)	T15A	probably benign	Het
Vars2	G	T	17: 35,971,672 (GRCm39)	Q526K	probably damaging	Het
Vipas39	A	G	12: 87,310,677 (GRCm39)		probably null	Het
Zfp689	A	T	7: 127,044,010 (GRCm39)	C207S	probably damaging	Het
Zfpl1	C	A	19: 6,134,432 (GRCm39)	E18*	probably null	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
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
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'- AAATGGACTGTGACCTGTGGG -3'
(R):5'- GCAACTGTGTCTGCTCAATCAG -3'

Sequencing Primer
(F):5'- TGTGACCTGTGGGCTCCC -3'
(R):5'- TATAAACTGTGATCATGTGGGAGG -3'

Posted On

2019-10-17