Mutagenetix > Incidental Mutation

Incidental Mutation 'R0057:Bloc1s6'

17251

Institutional Source

Beutler Lab

Gene Symbol

Bloc1s6

Ensembl Gene

ENSMUSG00000005804

Gene Name

biogenesis of lysosomal organelles complex-1, subunit 6, pallidin

Synonyms

BLOC-1, BLOC-1 subunit, Pldn

MMRRC Submission

038351-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R0057 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

122580423-122591395 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 122586141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000005954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005954]

AlphaFold

Q9R0C0

Predicted Effect

probably benign
Transcript: ENSMUST00000005954

SMART Domains

Protein: ENSMUSP00000005954
Gene: ENSMUSG00000005804

Domain	Start	End	E-Value	Type
Pfam:Snapin_Pallidin	50	140	2.5e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148460

Coding Region Coverage

1x: 90.1%
3x: 87.8%
10x: 82.7%
20x: 75.7%

Validation Efficiency

89% (65/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mutations at this locus result in a coat color abnormality, abnormal platelet morphology, age related lung abnormalities, decreased ssurvival, and impaired motor coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,832,385 (GRCm39)	F1309L	possibly damaging	Het
Abcc6	C	T	7: 45,669,567 (GRCm39)	A163T	probably benign	Het
Adam23	T	A	1: 63,610,078 (GRCm39)	H693Q	probably damaging	Het
Afg3l2	A	G	18: 67,556,156 (GRCm39)	F392L	probably damaging	Het
Ak9	A	T	10: 41,268,724 (GRCm39)	T1055S	probably benign	Het
Ap5z1	T	C	5: 142,456,144 (GRCm39)		probably benign	Het
Arhgef10l	A	G	4: 140,338,529 (GRCm39)		probably benign	Het
Caskin1	A	G	17: 24,723,870 (GRCm39)	N886S	probably damaging	Het
Celsr1	A	C	15: 85,914,963 (GRCm39)	S1003R	probably benign	Het
Ctse	G	T	1: 131,591,109 (GRCm39)	D97Y	probably damaging	Het
Cux1	T	A	5: 136,285,136 (GRCm39)	I505F	probably damaging	Het
Dcaf11	T	C	14: 55,806,767 (GRCm39)	V490A	probably benign	Het
Dscam	A	C	16: 96,474,936 (GRCm39)	W1209G	probably damaging	Het
Emc8	A	G	8: 121,385,822 (GRCm39)		probably benign	Het
Entpd6	A	G	2: 150,600,748 (GRCm39)	K152R	probably null	Het
Eps8l2	C	T	7: 140,922,884 (GRCm39)	T49I	probably benign	Het
Fcsk	C	T	8: 111,620,400 (GRCm39)		probably benign	Het
Gm12251	C	A	11: 58,283,867 (GRCm39)		probably benign	Het
Gna11	A	G	10: 81,366,774 (GRCm39)	M312T	probably benign	Het
Hacd2	T	A	16: 34,895,997 (GRCm39)	V105D	probably damaging	Het
Il17a	T	A	1: 20,803,881 (GRCm39)	I92N	probably damaging	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Irak4	A	C	15: 94,451,753 (GRCm39)	R115S	probably benign	Het
Jarid2	C	T	13: 45,038,332 (GRCm39)	H77Y	probably damaging	Het
Kcnk6	A	T	7: 28,925,088 (GRCm39)	L176Q	probably damaging	Het
Kmt2b	A	T	7: 30,276,217 (GRCm39)		probably benign	Het
Kremen2	A	C	17: 23,962,202 (GRCm39)	I210S	possibly damaging	Het
Ldah	T	C	12: 8,288,432 (GRCm39)		probably benign	Het
Lgals9	A	T	11: 78,862,262 (GRCm39)		probably benign	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mfsd4b4	T	A	10: 39,891,097 (GRCm38)		probably benign	Het
Msh4	C	T	3: 153,575,318 (GRCm39)	A686T	probably benign	Het
Mycbp2	T	C	14: 103,389,578 (GRCm39)	N3411D	probably damaging	Het
Myt1l	A	G	12: 29,892,611 (GRCm39)		probably null	Het
Nmbr	A	G	10: 14,636,268 (GRCm39)	N79S	probably damaging	Het
Npsr1	A	T	9: 24,211,723 (GRCm39)	I84F	probably damaging	Het
Or52h1	G	T	7: 103,829,536 (GRCm39)	H26Q	probably benign	Het
Or5m10b	C	A	2: 85,699,597 (GRCm39)	Y220*	probably null	Het
Or6z5	T	C	7: 6,477,679 (GRCm39)	L190P	probably damaging	Het
Prlr	A	G	15: 10,328,509 (GRCm39)	Y328C	probably damaging	Het
Rasal3	A	G	17: 32,610,357 (GRCm39)	S977P	probably benign	Het
Ros1	C	T	10: 52,056,287 (GRCm39)	V68I	probably benign	Het
Shmt2	G	A	10: 127,356,917 (GRCm39)	T31M	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Snrnp200	C	G	2: 127,079,827 (GRCm39)	L1899V	probably damaging	Het
Snrnp48	T	A	13: 38,400,356 (GRCm39)	C154*	probably null	Het
Tdrd6	G	A	17: 43,928,052 (GRCm39)		probably benign	Het
Tmem175	C	T	5: 108,787,428 (GRCm39)	H92Y	probably damaging	Het
Tom1l1	G	A	11: 90,575,975 (GRCm39)		probably benign	Het
Top3a	C	T	11: 60,631,510 (GRCm39)	A951T	probably benign	Het
Tram2	C	T	1: 21,076,378 (GRCm39)	R184Q	probably damaging	Het
Trpc4ap	T	C	2: 155,482,406 (GRCm39)	E528G	possibly damaging	Het
Vwa7	G	A	17: 35,243,523 (GRCm39)	S710N	possibly damaging	Het
Zfa-ps	A	T	10: 52,421,202 (GRCm39)		noncoding transcript	Het
Zfp770	T	A	2: 114,027,713 (GRCm39)	R119*	probably null	Het

Other mutations in Bloc1s6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01458:Bloc1s6	APN	2	122,586,135 (GRCm39)	critical splice donor site	probably null
IGL02867:Bloc1s6	APN	2	122,584,604 (GRCm39)	missense	probably damaging	1.00
IGL02889:Bloc1s6	APN	2	122,584,604 (GRCm39)	missense	probably damaging	1.00
IGL03352:Bloc1s6	APN	2	122,584,638 (GRCm39)	missense	probably damaging	1.00
livid	UTSW	2	122,584,565 (GRCm39)	nonsense	probably null
R0057:Bloc1s6	UTSW	2	122,586,141 (GRCm39)	splice site	probably benign
R0122:Bloc1s6	UTSW	2	122,587,963 (GRCm39)	splice site	probably benign
R0656:Bloc1s6	UTSW	2	122,584,543 (GRCm39)	missense	probably benign	0.01
R1485:Bloc1s6	UTSW	2	122,588,063 (GRCm39)	critical splice donor site	probably null
R5657:Bloc1s6	UTSW	2	122,580,577 (GRCm39)	missense	probably benign	0.04
R7292:Bloc1s6	UTSW	2	122,584,615 (GRCm39)	missense	probably damaging	1.00
R8248:Bloc1s6	UTSW	2	122,584,565 (GRCm39)	nonsense	probably null
R8728:Bloc1s6	UTSW	2	122,588,026 (GRCm39)	missense	possibly damaging	0.77
R9117:Bloc1s6	UTSW	2	122,588,534 (GRCm39)	missense	probably damaging	1.00
R9159:Bloc1s6	UTSW	2	122,580,548 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-01-20