Mutagenetix > Incidental Mutation

Incidental Mutation 'R1339:Dtnbp1'

156967

Institutional Source

Beutler Lab

Gene Symbol

Dtnbp1

Ensembl Gene

ENSMUSG00000057531

Gene Name

dystrobrevin binding protein 1

Synonyms

5430437B18Rik, sdy, dysbindin, Bloc1s8

MMRRC Submission

039404-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1339 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45075552-45155614 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45076696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 237 (S237L)

Ref Sequence

ENSEMBL: ENSMUSP00000152195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044608] [ENSMUST00000072329] [ENSMUST00000110128] [ENSMUST00000173246] [ENSMUST00000173704] [ENSMUST00000220555] [ENSMUST00000222583] [ENSMUST00000221413] [ENSMUST00000222990]

AlphaFold

Q91WZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000044608

SMART Domains

Protein: ENSMUSP00000037774
Gene: ENSMUSG00000038518

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC
low complexity region	181	195	N/A	INTRINSIC
low complexity region	265	285	N/A	INTRINSIC
low complexity region	334	353	N/A	INTRINSIC
JmjN	554	595	1.77e-20	SMART
ARID	616	707	4.96e-24	SMART
BRIGHT	620	712	1.7e-29	SMART
low complexity region	791	800	N/A	INTRINSIC
JmjC	882	1046	1.04e-50	SMART
Pfam:zf-C5HC2	1137	1191	2.4e-14	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000072329
AA Change: S247L

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072170
Gene: ENSMUSG00000057531
AA Change: S247L

Domain	Start	End	E-Value	Type
low complexity region	97	111	N/A	INTRINSIC
Pfam:Dysbindin	175	327	3.4e-65	PFAM
low complexity region	340	351	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110128
AA Change: S247L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105755
Gene: ENSMUSG00000057531
AA Change: S247L

Domain	Start	End	E-Value	Type
coiled coil region	92	138	N/A	INTRINSIC
Pfam:Dysbindin	175	327	2.1e-65	PFAM
low complexity region	340	351	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173246

SMART Domains

Protein: ENSMUSP00000134205
Gene: ENSMUSG00000038518

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC
low complexity region	181	195	N/A	INTRINSIC
low complexity region	265	285	N/A	INTRINSIC
low complexity region	334	353	N/A	INTRINSIC
JmjN	554	595	1.77e-20	SMART
ARID	616	707	4.96e-24	SMART
BRIGHT	620	712	1.7e-29	SMART
low complexity region	791	800	N/A	INTRINSIC
JmjC	882	1046	1.04e-50	SMART
Pfam:zf-C5HC2	1137	1191	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173704

SMART Domains

Protein: ENSMUSP00000134675
Gene: ENSMUSG00000038518

Domain	Start	End	E-Value	Type
low complexity region	86	99	N/A	INTRINSIC
low complexity region	181	195	N/A	INTRINSIC
low complexity region	265	285	N/A	INTRINSIC
low complexity region	334	353	N/A	INTRINSIC
JmjN	554	595	1.77e-20	SMART
ARID	616	707	4.96e-24	SMART
BRIGHT	620	712	1.7e-29	SMART
low complexity region	791	800	N/A	INTRINSIC
JmjC	882	1046	1.04e-50	SMART
Pfam:zf-C5HC2	1137	1190	1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174683

Predicted Effect

probably damaging
Transcript: ENSMUST00000220555
AA Change: S237L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000222583
AA Change: S166L

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000221413

Predicted Effect

probably benign
Transcript: ENSMUST00000222990

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221393

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations at this locus result in pigmentation anomalies of the coat and eye as well as prolonged bleeding times due to platelet abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,839,412 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,220,777 (GRCm39)	N1385K	probably benign	Het
Cplane2	A	G	4: 140,945,859 (GRCm39)	E134G	probably damaging	Het
Cyp4a32	A	G	4: 115,468,760 (GRCm39)	Y382C	probably damaging	Het
Foxi1	T	C	11: 34,155,866 (GRCm39)	T255A	probably benign	Het
Ifi208	A	C	1: 173,510,804 (GRCm39)	T320P	probably damaging	Het
Inhbc	C	A	10: 127,193,510 (GRCm39)	V169L	probably benign	Het
Irf7	G	A	7: 140,843,617 (GRCm39)	R320C	probably damaging	Het
Marchf6	T	C	15: 31,486,548 (GRCm39)	T336A	probably benign	Het
Masp1	C	A	16: 23,271,217 (GRCm39)	C677F	probably damaging	Het
Mei1	A	G	15: 81,966,196 (GRCm39)	R323G	possibly damaging	Het
Or2a7	G	C	6: 43,151,544 (GRCm39)	G208A	probably benign	Het
Or6k8-ps1	G	T	1: 173,979,777 (GRCm39)	G232C	probably damaging	Het
Pira13	A	G	7: 3,825,155 (GRCm39)	Y496H	probably damaging	Het
Rel	C	T	11: 23,695,763 (GRCm39)	C208Y	probably damaging	Het
Shc2	T	G	10: 79,462,250 (GRCm39)	T298P	probably benign	Het
Syne1	G	A	10: 5,317,571 (GRCm39)	L508F	probably damaging	Het
Ubn1	A	G	16: 4,873,199 (GRCm39)	K74E	probably damaging	Het

Other mutations in Dtnbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
salt_and_pepper	UTSW	13	44,941,438 (GRCm38)	intron	probably benign
R0226:Dtnbp1	UTSW	13	45,076,669 (GRCm39)	missense	probably damaging	1.00
R6601:Dtnbp1	UTSW	13	45,084,721 (GRCm39)	critical splice donor site	probably null
R6625:Dtnbp1	UTSW	13	45,145,507 (GRCm39)	missense	possibly damaging	0.95
R6994:Dtnbp1	UTSW	13	45,155,405 (GRCm39)	missense	probably damaging	0.99
R7529:Dtnbp1	UTSW	13	45,084,546 (GRCm39)	missense	probably damaging	1.00
R7892:Dtnbp1	UTSW	13	45,075,765 (GRCm39)	nonsense	probably null
R7960:Dtnbp1	UTSW	13	45,106,650 (GRCm39)	missense	probably benign	0.24
R8293:Dtnbp1	UTSW	13	45,084,615 (GRCm39)	missense	probably benign	0.20
R8512:Dtnbp1	UTSW	13	45,075,867 (GRCm39)	missense	probably benign	0.30
R8784:Dtnbp1	UTSW	13	45,075,702 (GRCm39)	missense	unknown
R9136:Dtnbp1	UTSW	13	45,084,546 (GRCm39)	missense	possibly damaging	0.65

Predicted Primers

PCR Primer
(F):5'- AAATGACAGTGCCGTGTGAGCC -3'
(R):5'- CTTCTGACCCATGAAGACAGCTCC -3'

Sequencing Primer
(F):5'- GGAGAGCTAACACTTCCCCAG -3'
(R):5'- TAGGATACCTCAAGACTGGAATGTC -3'

Posted On

2014-02-11