Mutagenetix > Incidental Mutations

Incidental Mutation 'R7565:Bloc1s4'

585368

Institutional Source

Beutler Lab

Gene Symbol

Bloc1s4

Ensembl Gene

ENSMUSG00000060708

Gene Name

biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino

Synonyms

Cno, Blos4, 2610101N07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R7565 (G1)

Quality Score

200.009

Status

Not validated

Chromosome

Chromosomal Location

36747378-36748650 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36748345 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 101 (M101L)

Ref Sequence

ENSEMBL: ENSMUSP00000071840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071949]

Predicted Effect

probably benign
Transcript: ENSMUST00000071949
AA Change: M101L

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000071840
Gene: ENSMUSG00000060708
AA Change: M101L

Domain	Start	End	E-Value	Type
low complexity region	27	42	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
coiled coil region	141	162	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless 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 is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals exhibit a very dilute coat and eye color due to a reduced number of melanosomes. 75% of homozygous mutant animals exhibit some form of posture or balance abnormality, with variable severity. Platelet dense bodies are markedly deficient leading to prolonged bleeding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,270	N276K	probably benign	Het
9830107B12Rik	T	A	17: 48,145,579	Y63F	possibly damaging	Het
Abi1	A	T	2: 22,946,584	I421N	probably benign	Het
Ahnak	A	G	19: 9,016,156	I4935V	probably benign	Het
Atg12	A	C	18: 46,734,484	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,888,138		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,888,144		probably benign	Het
Bcl3	C	T	7: 19,812,494	V139I	probably damaging	Het
Bmp6	C	T	13: 38,346,257	Q109*	probably null	Het
Cabyr	C	T	18: 12,744,599	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,784,725	S22P	probably benign	Het
Catsperg2	A	T	7: 29,712,981	C395S	probably null	Het
Cd101	T	C	3: 101,018,792	T208A	probably benign	Het
Chaf1a	A	G	17: 56,064,148	S678G	probably benign	Het
Chrna2	A	C	14: 66,151,035	I500L	probably benign	Het
Cln6	C	T	9: 62,850,757	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,671,524	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,760,774	V225A	unknown	Het
Dnah10	A	G	5: 124,799,031	N2645D	probably damaging	Het
Dph5	T	A	3: 115,892,797	V74D	probably benign	Het
Dthd1	A	T	5: 62,843,092	I586L	probably damaging	Het
Elane	G	A	10: 79,887,045	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,433,362	T453A	probably damaging	Het
Fpr3	C	A	17: 17,970,965	T166K	probably damaging	Het
Fryl	A	G	5: 73,033,720	I2724T	probably benign	Het
Fsip2	C	T	2: 82,949,512	R201C	probably damaging	Het
Gm14496	T	A	2: 181,991,257	F11Y	possibly damaging	Het
Gm14496	A	G	2: 182,000,837	N767S	probably damaging	Het
Hyal4	T	A	6: 24,765,934	M429K	possibly damaging	Het
Itgad	A	T	7: 128,183,015	T208S	probably damaging	Het
Itpr3	T	G	17: 27,110,888	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,187	C292Y	probably damaging	Het
Kdr	T	C	5: 75,948,843	K958R	probably damaging	Het
Klhl22	T	A	16: 17,789,284	W485R	probably damaging	Het
Ldhb	T	A	6: 142,492,519	I271F	possibly damaging	Het
Lmo7	A	G	14: 101,885,301	R309G	probably damaging	Het
Marco	C	A	1: 120,474,666	C517F	probably damaging	Het
Mpdz	G	A	4: 81,303,654	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,148,376	S1410G	probably benign	Het
Ncor1	T	C	11: 62,401,265	N283S	probably damaging	Het
Nlrp14	T	A	7: 107,181,887	L97*	probably null	Het
Olfm3	T	G	3: 115,122,744	S442A	probably damaging	Het
Olfr116	T	C	17: 37,624,501	I45V	probably damaging	Het
Olfr1436	T	C	19: 12,298,848	T95A	probably benign	Het
Olfr693	T	C	7: 106,678,126	Y120C	probably damaging	Het
Olfr76	T	A	19: 12,120,011	S234C	probably benign	Het
Olfr796	A	G	10: 129,608,160	V107A	possibly damaging	Het
Pank4	G	A	4: 154,980,550	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,083,264	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,268,640	S911N	probably benign	Het
Prdx6b	A	G	2: 80,292,990	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,597,036	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,251,417	D9G		Het
Rpl13a	C	T	7: 45,127,042	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,616,083	I177F	probably damaging	Het
Rttn	C	A	18: 89,060,479	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,560,653	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,790,772	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,157,694	V277M	probably damaging	Het
Spata13	A	T	14: 60,751,849	Y988F	probably damaging	Het
Spo11	A	G	2: 172,992,071	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,587,134	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,506,593	W659*	probably null	Het
Thnsl2	T	C	6: 71,141,327	D39G	probably benign	Het
Thumpd1	A	T	7: 119,716,862	L288*	probably null	Het
Tram1l1	T	C	3: 124,321,907	Y239H	probably damaging	Het
Usp38	T	A	8: 80,981,972	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,136,660	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,565,291	I218V	probably benign	Het
Xpr1	T	C	1: 155,307,742	I461V	probably benign	Het
Ydjc	T	C	16: 17,147,005	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,160,220	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,390,366	L1140P	probably benign	Het

Other mutations in Bloc1s4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7697:Bloc1s4	UTSW	5	36748615	missense	probably benign
R8101:Bloc1s4	UTSW	5	36748141	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGATGGTATGCAGCAGCCTC -3'
(R):5'- ATCTCAGACCGTAACGCAATCG -3'

Sequencing Primer
(F):5'- TATGCAGCAGCCTCCGGAAG -3'
(R):5'- AACCCTGTCTCGAGAGGTCTC -3'

Posted On

2019-10-17