Mutagenetix > Incidental Mutation

Incidental Mutation 'R7529:Dtnbp1'

583219

Institutional Source

Beutler Lab

Gene Symbol

Dtnbp1

Ensembl Gene

ENSMUSG00000057531

Gene Name

dystrobrevin binding protein 1

Synonyms

5430437B18Rik, sdy, dysbindin, Bloc1s8

MMRRC Submission

045601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7529 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45075552-45155614 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45084546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 198 (F198S)

Ref Sequence

ENSEMBL: ENSMUSP00000072170 (fasta)

Gene Model

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

AlphaFold

Q91WZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000072329
AA Change: F198S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072170
Gene: ENSMUSG00000057531
AA Change: F198S

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: F198S

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

SMART Domains

Protein: ENSMUSP00000105755
Gene: ENSMUSG00000057531
AA Change: F198S

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 damaging
Transcript: ENSMUST00000220555
AA Change: F188S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221413
AA Change: F188S

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000222583
AA Change: F117S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000222990

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	A	7: 127,836,336 (GRCm39)	K86*	probably null	Het
Ablim3	A	C	18: 61,955,039 (GRCm39)	S317A	probably benign	Het
Adcy1	T	C	11: 7,089,157 (GRCm39)	S524P	probably damaging	Het
Agps	C	A	2: 75,662,696 (GRCm39)	A47E	possibly damaging	Het
Arhgef15	G	T	11: 68,844,848 (GRCm39)	R250S	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atoh8	G	T	6: 72,200,825 (GRCm39)	D288E	probably benign	Het
B3galt2	A	C	1: 143,522,274 (GRCm39)	K137Q	probably benign	Het
Cacna2d4	G	A	6: 119,247,727 (GRCm39)	V343I	probably benign	Het
Cage1	T	C	13: 38,209,731 (GRCm39)	N82S	possibly damaging	Het
Cep350	A	G	1: 155,737,669 (GRCm39)	S2725P	probably benign	Het
Cfap65	T	C	1: 74,965,769 (GRCm39)	N414D	probably damaging	Het
Cgnl1	A	C	9: 71,539,040 (GRCm39)	L1154R	probably damaging	Het
Cmya5	A	T	13: 93,233,942 (GRCm39)	M382K	probably benign	Het
Dchs2	G	A	3: 83,261,705 (GRCm39)	V2658M	possibly damaging	Het
Dlgap5	T	C	14: 47,653,876 (GRCm39)	N51S	probably damaging	Het
Dnah17	A	G	11: 117,940,692 (GRCm39)		probably null	Het
Dnal1	A	G	12: 84,178,117 (GRCm39)	I35V	probably benign	Het
Edar	A	T	10: 58,447,830 (GRCm39)	S160T	probably benign	Het
Enpp3	A	T	10: 24,674,072 (GRCm39)	N409K	probably damaging	Het
Ercc6	T	A	14: 32,282,686 (GRCm39)	C726*	probably null	Het
Extl2	G	A	3: 115,821,055 (GRCm39)	V301I	possibly damaging	Het
G2e3	A	G	12: 51,418,387 (GRCm39)	Q594R	probably damaging	Het
Gal3st2c	A	G	1: 93,937,039 (GRCm39)	N328S	probably benign	Het
Galnt17	A	G	5: 131,335,218 (GRCm39)	V74A	probably damaging	Het
Ggta1	A	G	2: 35,304,256 (GRCm39)	W76R	probably damaging	Het
Gm9772	T	A	17: 22,226,140 (GRCm39)	D48V	probably benign	Het
Herpud2	T	C	9: 25,020,193 (GRCm39)	T388A	probably damaging	Het
Ighv5-9-1	A	G	12: 113,699,954 (GRCm39)	S53P	possibly damaging	Het
Il23r	T	A	6: 67,467,720 (GRCm39)	M16L	possibly damaging	Het
Ints1	G	A	5: 139,753,481 (GRCm39)	A717V	possibly damaging	Het
Itpr2	A	T	6: 146,096,096 (GRCm39)	L2122Q	probably damaging	Het
Klrg2	A	T	6: 38,607,266 (GRCm39)	V248E	probably damaging	Het
Krtap5-5	A	G	7: 141,783,429 (GRCm39)	C74R	unknown	Het
Luzp1	G	T	4: 136,268,243 (GRCm39)	L155F	probably damaging	Het
Mcam	T	C	9: 44,050,192 (GRCm39)	V209A	probably benign	Het
Med1	G	C	11: 98,046,791 (GRCm39)	T1335R	unknown	Het
Mroh2b	A	G	15: 4,978,491 (GRCm39)	I1346V	probably damaging	Het
Mrpl4	C	G	9: 20,918,975 (GRCm39)	Q201E	probably benign	Het
Muc21	A	T	17: 35,930,123 (GRCm39)	S1354R	unknown	Het
Mylk2	T	C	2: 152,757,624 (GRCm39)	L326P	probably damaging	Het
Myot	A	T	18: 44,479,240 (GRCm39)	R326*	probably null	Het
Nox3	T	A	17: 3,722,050 (GRCm39)	R288S	probably damaging	Het
Nox4	A	T	7: 87,044,976 (GRCm39)	Y572F	unknown	Het
Or2v2	A	G	11: 49,003,686 (GRCm39)	L289P	probably damaging	Het
Or5an10	A	G	19: 12,276,086 (GRCm39)	S137P	probably damaging	Het
Pcdhb15	G	T	18: 37,607,526 (GRCm39)	E253*	probably null	Het
Plcb2	T	C	2: 118,540,715 (GRCm39)	H1052R	probably damaging	Het
Plpp5	A	T	8: 26,214,233 (GRCm39)	Q250L	probably benign	Het
Plxna2	T	C	1: 194,326,179 (GRCm39)	Y38H	probably benign	Het
Pnpla8	A	G	12: 44,329,963 (GRCm39)	K172E	probably benign	Het
Pramel23	T	C	4: 143,429,244 (GRCm39)			Het
Prl8a9	T	A	13: 27,744,511 (GRCm39)	D110V	probably benign	Het
Prrx1	T	C	1: 163,081,533 (GRCm39)		probably null	Het
Prss52	T	A	14: 64,347,037 (GRCm39)	H70Q	probably benign	Het
Rcc1	T	C	4: 132,061,874 (GRCm39)	T300A	probably benign	Het
Rnf114	T	C	2: 167,349,014 (GRCm39)	V64A	possibly damaging	Het
Rnf168	T	C	16: 32,117,732 (GRCm39)	I431T	probably damaging	Het
Rnmt	A	G	18: 68,444,726 (GRCm39)	M232V	probably benign	Het
Rrs1	A	C	1: 9,616,417 (GRCm39)	Q223H	probably benign	Het
Scyl3	A	T	1: 163,771,438 (GRCm39)	L261F	probably damaging	Het
Slc24a4	A	T	12: 102,230,707 (GRCm39)	T533S	probably benign	Het
Slc26a2	A	G	18: 61,331,430 (GRCm39)	L667P	probably damaging	Het
Snrnp40	T	A	4: 130,278,275 (GRCm39)	V260D	possibly damaging	Het
Snrpa	A	C	7: 26,888,878 (GRCm39)	M174R	probably benign	Het
Ss18l1	C	T	2: 179,699,950 (GRCm39)	A270V	possibly damaging	Het
Stk19	G	T	17: 35,043,632 (GRCm39)	Q193K	probably benign	Het
Syne1	T	A	10: 5,374,382 (GRCm39)	I142L	probably damaging	Het
Tbx2	T	C	11: 85,731,727 (GRCm39)	S675P	probably benign	Het
Tcaf1	A	G	6: 42,652,289 (GRCm39)	I731T	probably damaging	Het
Tg	G	T	15: 66,566,617 (GRCm39)	G1222W	probably damaging	Het
Tsc2	A	G	17: 24,816,922 (GRCm39)	F1581L	probably damaging	Het
Ubr4	G	C	4: 139,149,728 (GRCm39)	V520L	probably benign	Het
Wls	A	T	3: 159,578,644 (GRCm39)	N69Y	probably benign	Het
Wnk2	A	G	13: 49,254,457 (GRCm39)	F353L	possibly damaging	Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp64	C	T	2: 168,735,992 (GRCm39)	G562R	probably benign	Het
Zfp663	T	G	2: 165,194,728 (GRCm39)	E497A	probably damaging	Het
Zfp995	A	T	17: 22,099,333 (GRCm39)	C300*	probably null	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
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'- CTTGGTGGATCCTGAACACC -3'
(R):5'- TAGATGCTGCGGTCTCCTATG -3'

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

Posted On

2019-10-17