Mutagenetix > Incidental Mutation

Incidental Mutation 'R5987:Bloc1s1'

481747

Institutional Source

Beutler Lab

Gene Symbol

Bloc1s1

Ensembl Gene

ENSMUSG00000090247

Gene Name

biogenesis of lysosomal organelles complex-1, subunit 1

Synonyms

Gcn5l1, BLOS1

MMRRC Submission

044167-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5987 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

128755783-128759393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 128759255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 17 (K17T)

Ref Sequence

ENSEMBL: ENSMUSP00000117408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026405] [ENSMUST00000026406] [ENSMUST00000131271] [ENSMUST00000135161] [ENSMUST00000145616] [ENSMUST00000153731] [ENSMUST00000149961]

AlphaFold

O55102

Predicted Effect

probably damaging
Transcript: ENSMUST00000026405
AA Change: K17T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026405
Gene: ENSMUSG00000090247
AA Change: K17T

Domain	Start	End	E-Value	Type
Pfam:GCN5L1	5	125	3.1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000026406

SMART Domains

Protein: ENSMUSP00000026406
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:adh_short	29	194	3.6e-23	PFAM
Pfam:adh_short_C2	35	230	6.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131271

SMART Domains

Protein: ENSMUSP00000114321
Gene: ENSMUSG00000090247

Domain	Start	End	E-Value	Type
Pfam:GCN5L1	4	121	1.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135161

SMART Domains

Protein: ENSMUSP00000115182
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
transmembrane domain	59	78	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143628

Predicted Effect

probably benign
Transcript: ENSMUST00000145616

SMART Domains

Protein: ENSMUSP00000123358
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:adh_short	29	175	1.7e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153731
AA Change: K17T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117408
Gene: ENSMUSG00000090247
AA Change: K17T

Domain	Start	End	E-Value	Type
Pfam:GCN5L1	5	92	1.6e-38	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153935

Predicted Effect

probably benign
Transcript: ENSMUST00000149961

SMART Domains

Protein: ENSMUSP00000123183
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
Pfam:adh_short	2	124	4e-17	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic lethality. Mouse embryonic fibroblasts show alterations in autophagy, mitochondrial physiology, and vesicle-mediated transport. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,297,257 (GRCm39)	L2411R	probably damaging	Het
Als2	A	G	1: 59,245,746 (GRCm39)	W577R	probably damaging	Het
Aox1	C	A	1: 58,346,518 (GRCm39)	R551S	probably benign	Het
Areg	A	T	5: 91,294,577 (GRCm39)	H245L	possibly damaging	Het
Arhgap35	T	C	7: 16,297,392 (GRCm39)	T558A	possibly damaging	Het
Arhgef28	A	T	13: 98,073,368 (GRCm39)	C1322*	probably null	Het
Arhgef38	T	C	3: 132,912,719 (GRCm39)	R107G	possibly damaging	Het
Atf7ip	T	A	6: 136,548,500 (GRCm39)	F695L	probably damaging	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Bche	T	G	3: 73,556,011 (GRCm39)	Q549P	possibly damaging	Het
Blnk	A	G	19: 40,917,733 (GRCm39)	F417L	possibly damaging	Het
C330018D20Rik	G	T	18: 57,090,968 (GRCm39)	T65K	probably damaging	Het
Ccdc168	A	T	1: 44,096,417 (GRCm39)	N1560K	probably benign	Het
Cers1	T	A	8: 70,774,228 (GRCm39)	S162T	possibly damaging	Het
Cgn	T	C	3: 94,686,832 (GRCm39)	K157E	probably benign	Het
Cldn7	G	A	11: 69,858,494 (GRCm39)	R196Q	probably benign	Het
Clrn2	C	A	5: 45,611,369 (GRCm39)	Q73K	probably benign	Het
Cmss1	A	G	16: 57,122,608 (GRCm39)	V262A	probably benign	Het
Cpb2	T	A	14: 75,498,128 (GRCm39)	V97E	probably damaging	Het
Ctnnd2	G	A	15: 30,683,387 (GRCm39)	V463I	probably benign	Het
Cyp7a1	A	T	4: 6,268,476 (GRCm39)	S416R	probably benign	Het
Dip2b	C	T	15: 100,087,960 (GRCm39)	R965C	probably damaging	Het
Dkk3	T	C	7: 111,749,865 (GRCm39)	T102A	probably benign	Het
Dmap1	C	A	4: 117,538,039 (GRCm39)		probably null	Het
Dnah12	C	A	14: 26,608,828 (GRCm39)	D3872E	possibly damaging	Het
Dnah7b	A	G	1: 46,158,558 (GRCm39)		probably null	Het
Dnai1	C	T	4: 41,632,391 (GRCm39)	T575I	probably benign	Het
Dsg1a	T	A	18: 20,464,599 (GRCm39)	Y365N	probably damaging	Het
Dusp11	T	A	6: 85,936,215 (GRCm39)	K18*	probably null	Het
E2f2	A	T	4: 135,900,245 (GRCm39)	T52S	probably benign	Het
Elavl4	A	G	4: 110,147,841 (GRCm39)	L13S	probably benign	Het
Epor	T	C	9: 21,873,572 (GRCm39)	D59G	possibly damaging	Het
Eral1	A	G	11: 77,971,059 (GRCm39)	C43R	possibly damaging	Het
Fam135b	A	G	15: 71,362,697 (GRCm39)	V228A	probably benign	Het
Gba1	T	C	3: 89,113,129 (GRCm39)	S187P	probably damaging	Het
Gcc2	G	T	10: 58,091,669 (GRCm39)		probably benign	Het
Gdap2	C	A	3: 100,109,572 (GRCm39)		probably benign	Het
Gm10271	A	T	10: 116,808,497 (GRCm39)	F6L	probably damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gpr160	T	C	3: 30,950,612 (GRCm39)	L228P	probably benign	Het
Gsdmc2	A	C	15: 63,702,715 (GRCm39)	V184G	probably benign	Het
Gtf2e2	A	T	8: 34,266,080 (GRCm39)	K252M	probably damaging	Het
Gtf2e2	G	T	8: 34,266,081 (GRCm39)	K252N	probably benign	Het
Gys1	T	C	7: 45,087,529 (GRCm39)	Y102H	probably benign	Het
H4c2	A	G	13: 23,941,209 (GRCm39)	D69G	probably damaging	Het
Ifit3b	A	C	19: 34,589,598 (GRCm39)	D258A	probably damaging	Het
Itpr3	T	A	17: 27,323,575 (GRCm39)	M1200K	probably damaging	Het
Kcng4	A	T	8: 120,353,098 (GRCm39)	F271I	probably damaging	Het
Klhdc2	C	T	12: 69,350,387 (GRCm39)	S144L	possibly damaging	Het
Lhcgr	A	G	17: 89,063,006 (GRCm39)	F222S	probably damaging	Het
Lrp5	C	G	19: 3,678,299 (GRCm39)	G519R	probably damaging	Het
Magel2	T	C	7: 62,028,515 (GRCm39)	V473A	probably benign	Het
Map1a	T	C	2: 121,134,776 (GRCm39)	V1864A	possibly damaging	Het
Mast4	T	A	13: 102,895,242 (GRCm39)	Q760H	probably damaging	Het
Mertk	A	G	2: 128,613,294 (GRCm39)	N437D	probably benign	Het
Mettl18	G	A	1: 163,824,344 (GRCm39)	V222I	probably benign	Het
Mical2	C	T	7: 111,934,155 (GRCm39)	T782M	probably benign	Het
Mocos	T	A	18: 24,819,750 (GRCm39)	V664E	probably damaging	Het
Neb	G	T	2: 52,185,306 (GRCm39)	N975K	probably benign	Het
Nectin3	A	T	16: 46,284,508 (GRCm39)	S59T	probably benign	Het
Nelfb	A	T	2: 25,093,900 (GRCm39)	M11K	probably damaging	Het
Nrp1	A	G	8: 129,202,650 (GRCm39)	N545S	probably damaging	Het
Or10ak11	T	C	4: 118,687,478 (GRCm39)	D53G	probably damaging	Het
Or2g1	T	A	17: 38,107,248 (GRCm39)	N304K	probably benign	Het
Or51b4	T	A	7: 103,530,907 (GRCm39)	D181V	probably damaging	Het
Or5b117	A	T	19: 13,431,324 (GRCm39)	S186T	possibly damaging	Het
Or5p67	T	A	7: 107,922,254 (GRCm39)	T210S	probably benign	Het
Or6c70	A	T	10: 129,710,390 (GRCm39)	F79I	probably damaging	Het
Or8g53	T	C	9: 39,683,836 (GRCm39)	T87A	probably benign	Het
P3h1	A	G	4: 119,103,862 (GRCm39)	H587R	probably damaging	Het
Paqr4	A	G	17: 23,958,832 (GRCm39)		probably null	Het
Pde12	A	G	14: 26,390,253 (GRCm39)	V152A	probably benign	Het
Ppip5k1	C	A	2: 121,180,972 (GRCm39)	E45*	probably null	Het
Ptch2	C	T	4: 116,967,254 (GRCm39)	A677V	probably benign	Het
Rgs12	A	G	5: 35,177,689 (GRCm39)	N93S	probably damaging	Het
Rif1	C	G	2: 51,985,856 (GRCm39)	L614V	probably damaging	Het
Rnf32	T	C	5: 29,408,145 (GRCm39)	S125P	probably damaging	Het
Robo4	A	G	9: 37,322,696 (GRCm39)	I850V	probably damaging	Het
Scap	T	A	9: 110,210,219 (GRCm39)	I876N	probably damaging	Het
Sin3a	A	G	9: 57,034,484 (GRCm39)	D1219G	possibly damaging	Het
Skint5	T	C	4: 113,743,005 (GRCm39)	E354G	unknown	Het
Spart	A	G	3: 55,033,962 (GRCm39)	D396G	probably benign	Het
Spindoc	G	A	19: 7,351,024 (GRCm39)	S311L	probably benign	Het
Spta1	G	T	1: 174,050,894 (GRCm39)	R1791L	probably damaging	Het
Tbck	T	C	3: 132,507,278 (GRCm39)	I750T	possibly damaging	Het
Tmem191	T	C	16: 17,094,334 (GRCm39)		probably null	Het
Trgv1	A	T	13: 19,524,474 (GRCm39)	Y66F	probably benign	Het
Vmn2r125	A	G	4: 156,702,292 (GRCm39)	Y26C	probably damaging	Het
Zbtb17	T	C	4: 141,192,128 (GRCm39)	C358R	possibly damaging	Het
Zfp180	G	A	7: 23,804,859 (GRCm39)	G426E	probably damaging	Het
Zfp445	A	G	9: 122,682,951 (GRCm39)	V330A	probably benign	Het
Zfp595	A	G	13: 67,465,688 (GRCm39)	C192R	probably damaging	Het
Zkscan4	A	G	13: 21,668,623 (GRCm39)	H387R	probably damaging	Het

Other mutations in Bloc1s1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02137:Bloc1s1	APN	10	128,758,517 (GRCm39)	splice site	probably benign
R4702:Bloc1s1	UTSW	10	128,759,267 (GRCm39)	missense	probably damaging	1.00
R5375:Bloc1s1	UTSW	10	128,759,826 (GRCm39)	unclassified	probably benign
R7108:Bloc1s1	UTSW	10	128,758,592 (GRCm39)	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- ACGGAGTTTCCAGAAGTGCC -3'
(R):5'- ACTGAGCCTCATTAGCGAACAG -3'

Sequencing Primer
(F):5'- GAAGTGCCGCCCCCAATTC -3'
(R):5'- CAAAAGCAGAGGGAGGCTCTTG -3'

Posted On

2017-06-26