Mutagenetix > Incidental Mutation

Incidental Mutation 'R9136:Dtnbp1'

694042

Institutional Source

Beutler Lab

Gene Symbol

Dtnbp1

Ensembl Gene

ENSMUSG00000057531

Gene Name

dystrobrevin binding protein 1

Synonyms

5430437B18Rik, sdy, dysbindin, Bloc1s8

MMRRC Submission

068931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9136 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45075552-45155614 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45084546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 198 (F198Y)

Ref Sequence

ENSEMBL: ENSMUSP00000072170 (fasta)

Gene Model

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

AlphaFold

Q91WZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072329
AA Change: F198Y

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072170
Gene: ENSMUSG00000057531
AA Change: F198Y

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

possibly damaging
Transcript: ENSMUST00000110128
AA Change: F198Y

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105755
Gene: ENSMUSG00000057531
AA Change: F198Y

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: ENSMUST00000220555
AA Change: F188Y

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000221413
AA Change: F188Y

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222583
AA Change: F117Y

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000222990

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,596,807 (GRCm39)	Q420R	probably benign	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Acsl5	A	T	19: 55,266,400 (GRCm39)	K109N	probably benign	Het
Agpat3	T	C	10: 78,120,893 (GRCm39)	N95S	probably damaging	Het
Akna	C	T	4: 63,310,392 (GRCm39)	D451N	probably damaging	Het
Ankrd17	A	T	5: 90,392,278 (GRCm39)	D1797E	probably damaging	Het
Ano2	A	G	6: 125,959,962 (GRCm39)	N691S	probably damaging	Het
Arrdc1	A	T	2: 24,817,193 (GRCm39)		probably benign	Het
Ccdc63	G	A	5: 122,259,146 (GRCm39)	R251W	probably damaging	Het
Cd70	T	C	17: 57,453,152 (GRCm39)	T171A	possibly damaging	Het
Cenpf	A	T	1: 189,403,352 (GRCm39)	S382T	probably benign	Het
Cox5b-ps	A	C	13: 21,685,587 (GRCm39)	M1R	probably null	Het
Ddx19b	G	T	8: 111,734,906 (GRCm39)	D487E	probably benign	Het
Dlgap4	G	A	2: 156,588,075 (GRCm39)	E640K	possibly damaging	Het
Epha10	T	C	4: 124,796,427 (GRCm39)	Y379H		Het
Eral1	A	G	11: 77,964,960 (GRCm39)	I411T		Het
Exd1	C	T	2: 119,359,385 (GRCm39)	G193E	probably damaging	Het
Fat3	C	A	9: 15,833,738 (GRCm39)	A105S		Het
Fbp2	C	T	13: 63,002,840 (GRCm39)	V71M	possibly damaging	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Grm5	G	A	7: 87,689,254 (GRCm39)	V542I	possibly damaging	Het
Hdc	C	T	2: 126,439,786 (GRCm39)		probably null	Het
Hspe1	G	T	1: 55,128,314 (GRCm39)	K36N	probably damaging	Het
Hypk	T	A	2: 121,287,636 (GRCm39)	L17*	probably null	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Immt	C	T	6: 71,851,403 (GRCm39)	T588I	probably damaging	Het
Kat2b	T	A	17: 53,936,364 (GRCm39)	S179T	probably benign	Het
Krtap19-5	C	T	16: 88,693,246 (GRCm39)	G22D	unknown	Het
Lipk	A	G	19: 33,999,830 (GRCm39)	D153G	probably damaging	Het
Lnpep	A	G	17: 17,750,090 (GRCm39)	V1000A	probably benign	Het
Map3k7cl	T	C	16: 87,391,227 (GRCm39)	L117P	probably damaging	Het
Meikin	A	G	11: 54,285,464 (GRCm39)	E167G	possibly damaging	Het
Miox	A	G	15: 89,220,740 (GRCm39)	Y215C	probably damaging	Het
Mthfd1	T	G	12: 76,350,649 (GRCm39)	M677R	probably damaging	Het
Ncoa7	G	A	10: 30,567,628 (GRCm39)	S350L	probably benign	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nrg3	A	T	14: 38,119,262 (GRCm39)	N403K	possibly damaging	Het
Nup210	T	C	6: 91,020,830 (GRCm39)	T955A	possibly damaging	Het
Odf2l	C	A	3: 144,851,698 (GRCm39)	T82K		Het
Or10ag56	A	G	2: 87,139,219 (GRCm39)	I49V	possibly damaging	Het
Or1m1	T	C	9: 18,666,175 (GRCm39)	Y252C	probably damaging	Het
Or4c108	T	A	2: 88,804,113 (GRCm39)	M41L	probably benign	Het
Or8w1	A	G	2: 87,465,341 (GRCm39)	V250A	probably benign	Het
Otud7b	T	A	3: 96,059,815 (GRCm39)		probably benign	Het
Pcm1	C	T	8: 41,732,825 (GRCm39)	S694L	probably benign	Het
Pex11b	T	C	3: 96,551,259 (GRCm39)	L248P	probably damaging	Het
Pira13	A	T	7: 3,826,285 (GRCm39)	I236N		Het
Ppp3cb	T	C	14: 20,581,867 (GRCm39)	I49M	probably benign	Het
Prorp	C	T	12: 55,350,727 (GRCm39)	P12L	probably benign	Het
Prr14l	A	C	5: 32,986,080 (GRCm39)	C1138W		Het
Prss1	T	G	6: 41,438,280 (GRCm39)		probably benign	Het
Psg22	T	A	7: 18,460,811 (GRCm39)	I480K	probably damaging	Het
Rgs21	A	C	1: 144,412,653 (GRCm39)	F57C		Het
Rngtt	T	A	4: 33,404,218 (GRCm39)	D468E	probably damaging	Het
Rorb	A	T	19: 18,934,686 (GRCm39)	V313E	probably damaging	Het
Sdk2	A	G	11: 113,697,203 (GRCm39)	F1736S	probably damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slitrk1	T	C	14: 109,148,981 (GRCm39)	I577V		Het
Sos2	C	A	12: 69,633,446 (GRCm39)	E1143D	possibly damaging	Het
Spen	T	C	4: 141,249,623 (GRCm39)	D55G	unknown	Het
Stoml1	C	A	9: 58,168,236 (GRCm39)	Q316K	possibly damaging	Het
Synpo2l	C	T	14: 20,715,857 (GRCm39)	A243T	probably damaging	Het
Tenm4	A	T	7: 96,473,125 (GRCm39)	I974F	possibly damaging	Het
Trp53bp1	T	A	2: 121,067,092 (GRCm39)	I545F	possibly damaging	Het
Unc13a	T	C	8: 72,104,994 (GRCm39)	D756G	possibly damaging	Het
Uqcrc1	A	G	9: 108,776,973 (GRCm39)	N393D	possibly damaging	Het
Vcl	T	A	14: 21,057,344 (GRCm39)	D505E	probably benign	Het
Vwf	A	T	6: 125,576,356 (GRCm39)		probably benign	Het
Wdr11	A	G	7: 129,204,816 (GRCm39)	H207R		Het
Zc3h7b	A	G	15: 81,653,312 (GRCm39)	D72G	probably damaging	Het
Zfp507	A	T	7: 35,475,883 (GRCm39)	D813E	probably damaging	Het
Zfp704	T	C	3: 9,509,324 (GRCm39)	S374G	probably benign	Het
Zfp97	G	A	17: 17,365,215 (GRCm39)	C238Y	probably benign	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
R1339:Dtnbp1	UTSW	13	45,076,696 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- ACCCTTGGTGGATCCTGAAC -3'
(R):5'- GTAGATGCTGCGGTCTCCTATG -3'

Sequencing Primer
(F):5'- GTAATGTCACCTCAGGCATGATC -3'
(R):5'- CGGTCTCCTATGGCAGATCTG -3'

Posted On

2022-01-20