Mutagenetix > Incidental Mutation

Incidental Mutation 'R0908:Scamp3'

83383

Institutional Source

Beutler Lab

Gene Symbol

Scamp3

Ensembl Gene

ENSMUSG00000028049

Gene Name

secretory carrier membrane protein 3

Synonyms

Sc3

MMRRC Submission

039066-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R0908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89177473-89182765 bp(+) (GRCm38)

Type of Mutation

splice site (2518 bp from exon)

DNA Base Change (assembly)

T to C at 89179439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029684] [ENSMUST00000041913] [ENSMUST00000090927] [ENSMUST00000098941] [ENSMUST00000117278] [ENSMUST00000119707] [ENSMUST00000120697] [ENSMUST00000121212] [ENSMUST00000121931] [ENSMUST00000127982] [ENSMUST00000128318] [ENSMUST00000147696] [ENSMUST00000140473]

AlphaFold

O35609

Predicted Effect

probably null
Transcript: ENSMUST00000029684

SMART Domains

Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049

Domain	Start	End	E-Value	Type
low complexity region	49	69	N/A	INTRINSIC
coiled coil region	89	127	N/A	INTRINSIC
Pfam:SCAMP	133	310	1.5e-76	PFAM
low complexity region	329	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041913

SMART Domains

Protein: ENSMUSP00000039261
Gene: ENSMUSG00000032657

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:CD20	36	196	8e-36	PFAM
low complexity region	243	254	N/A	INTRINSIC
low complexity region	390	408	N/A	INTRINSIC
low complexity region	445	463	N/A	INTRINSIC
low complexity region	471	490	N/A	INTRINSIC
low complexity region	628	649	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000090927

SMART Domains

Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	54	72	N/A	INTRINSIC
low complexity region	105	137	N/A	INTRINSIC
S_TKc	161	477	1.46e-75	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000098941

SMART Domains

Protein: ENSMUSP00000096540
Gene: ENSMUSG00000028049

Domain	Start	End	E-Value	Type
low complexity region	49	69	N/A	INTRINSIC
coiled coil region	89	127	N/A	INTRINSIC
Pfam:SCAMP	133	229	5.5e-46	PFAM
Pfam:SCAMP	227	276	2.2e-11	PFAM
low complexity region	295	314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117278

SMART Domains

Protein: ENSMUSP00000113706
Gene: ENSMUSG00000032657

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
transmembrane domain	34	56	N/A	INTRINSIC
Pfam:CD20	74	177	7.3e-13	PFAM
low complexity region	224	235	N/A	INTRINSIC
low complexity region	371	389	N/A	INTRINSIC
low complexity region	426	444	N/A	INTRINSIC
low complexity region	452	471	N/A	INTRINSIC
low complexity region	609	630	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119707

SMART Domains

Protein: ENSMUSP00000113579
Gene: ENSMUSG00000032657

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:CD20	36	196	1.9e-18	PFAM
low complexity region	312	330	N/A	INTRINSIC
low complexity region	367	385	N/A	INTRINSIC
low complexity region	393	412	N/A	INTRINSIC
low complexity region	550	571	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000120697

SMART Domains

Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049

Domain	Start	End	E-Value	Type
low complexity region	50	70	N/A	INTRINSIC
coiled coil region	90	128	N/A	INTRINSIC
Pfam:SCAMP	135	310	1.1e-67	PFAM
low complexity region	330	349	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121212

SMART Domains

Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	54	73	N/A	INTRINSIC
low complexity region	106	138	N/A	INTRINSIC
S_TKc	162	478	1.46e-75	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000121931

SMART Domains

Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	54	73	N/A	INTRINSIC
low complexity region	106	142	N/A	INTRINSIC
S_TKc	163	479	1.46e-75	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124291

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126115

Predicted Effect

probably benign
Transcript: ENSMUST00000127982

SMART Domains

Protein: ENSMUSP00000114855
Gene: ENSMUSG00000032657

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:CD20	36	77	6.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129294

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136165

Predicted Effect

probably benign
Transcript: ENSMUST00000128318

SMART Domains

Protein: ENSMUSP00000115761
Gene: ENSMUSG00000068917

Domain	Start	End	E-Value	Type
low complexity region	24	50	N/A	INTRINSIC
low complexity region	54	73	N/A	INTRINSIC
low complexity region	103	133	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147696

SMART Domains

Protein: ENSMUSP00000117185
Gene: ENSMUSG00000032657

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:CD20	36	196	1.9e-30	PFAM
low complexity region	242	253	N/A	INTRINSIC
low complexity region	324	349	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140473

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,070,077	F1676I	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Atp8b3	T	C	10: 80,520,084	T1265A	probably benign	Het
Cep112	T	C	11: 108,664,497	V679A	possibly damaging	Het
Cts8	A	T	13: 61,250,916	Y259N	probably damaging	Het
Depdc7	A	G	2: 104,728,092	S195P	probably benign	Het
Dio2	A	T	12: 90,729,648	C189S	probably damaging	Het
Dmc1	A	G	15: 79,585,689	L189P	probably damaging	Het
Ehmt1	A	G	2: 24,804,888	Y1016H	probably damaging	Het
Gle1	T	C	2: 29,936,121	S71P	probably benign	Het
Gykl1	T	A	18: 52,695,369	*550K	probably null	Het
Klhl32	T	C	4: 24,682,092	D197G	probably damaging	Het
Krt78	G	A	15: 101,950,901	T287M	probably damaging	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Mrpl1	A	T	5: 96,262,083	I272L	probably benign	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Olfr596	T	C	7: 103,310,573	V284A	possibly damaging	Het
Olfr937	T	C	9: 39,059,947	T240A	probably damaging	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	X: 143,743,893		probably benign	Het
Pde5a	A	T	3: 122,779,001	I344L	probably benign	Het
Prl7c1	A	G	13: 27,773,734	I241T	possibly damaging	Het
Rp1	T	C	1: 4,344,655	E2078G	probably benign	Het
Sept8	A	G	11: 53,537,870	H414R	probably benign	Het
Spata5	T	A	3: 37,431,623		probably null	Het
Spef2	T	A	15: 9,614,195		probably null	Het
Txlnb	A	G	10: 17,799,177	N26S	probably damaging	Het
Vmn1r11	G	T	6: 57,138,064	V201L	probably damaging	Het

Other mutations in Scamp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Scamp3	APN	3	89177666	unclassified	probably benign
IGL01362:Scamp3	APN	3	89179134	missense	probably benign	0.01
IGL02269:Scamp3	APN	3	89180734	missense	probably benign	0.12
R1160:Scamp3	UTSW	3	89181198	missense	probably damaging	1.00
R1899:Scamp3	UTSW	3	89180260	missense	probably damaging	1.00
R4237:Scamp3	UTSW	3	89181927	splice site	probably null
R4238:Scamp3	UTSW	3	89181927	splice site	probably null
R4373:Scamp3	UTSW	3	89181927	splice site	probably null
R4374:Scamp3	UTSW	3	89181927	splice site	probably null
R5013:Scamp3	UTSW	3	89180909	unclassified	probably benign
R5023:Scamp3	UTSW	3	89182293	unclassified	probably benign
R5057:Scamp3	UTSW	3	89182293	unclassified	probably benign
R5522:Scamp3	UTSW	3	89177622	missense	possibly damaging	0.90
R5762:Scamp3	UTSW	3	89181197	missense	probably damaging	1.00
R6788:Scamp3	UTSW	3	89181949	missense	probably benign	0.00
R7586:Scamp3	UTSW	3	89180366	missense	probably damaging	1.00
R7606:Scamp3	UTSW	3	89181218	missense	probably damaging	1.00
R7769:Scamp3	UTSW	3	89177991	missense	probably damaging	1.00
R8412:Scamp3	UTSW	3	89181218	missense	probably damaging	1.00
R9680:Scamp3	UTSW	3	89180254	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTACAGCACCCAGGTAAAGAGTGTG -3'
(R):5'- TGCCCAGGTTGATTTTATTCAGCCC -3'

Sequencing Primer
(F):5'- CCCAGGTAAAGAGTGTGTGTGG -3'
(R):5'- ggctacagagaaggctcag -3'

Posted On

2013-11-08