Mutagenetix > Incidental Mutations

Incidental Mutation 'R8412:Scamp3'

652725

Institutional Source

Beutler Lab

Gene Symbol

Scamp3

Ensembl Gene

ENSMUSG00000028049

Gene Name

secretory carrier membrane protein 3

Synonyms

Sc3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.942) question?

Stock #

R8412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89177473-89182765 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89181218 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 244 (F244L)

Ref Sequence

ENSEMBL: ENSMUSP00000112846 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029684
AA Change: F243L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049
AA Change: F243L

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 benign
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 benign
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 damaging
Transcript: ENSMUST00000120697
AA Change: F244L

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

SMART Domains

Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049
AA Change: F244L

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 benign
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 benign
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

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

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: ENSMUST00000140473

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	A	1: 184,033,159	R234S	probably damaging	Het
Ace	T	A	11: 105,979,266	F806Y	probably benign	Het
Ak8	A	G	2: 28,739,631	T286A	probably benign	Het
Apba2	T	A	7: 64,745,798	F674Y	probably damaging	Het
Apob	A	G	12: 8,008,069	I2184V	probably benign	Het
Arhgap23	C	T	11: 97,466,028	P884L	probably benign	Het
Atg2a	T	C	19: 6,244,524	L90P	probably damaging	Het
Bhmt2	T	A	13: 93,662,312	I334F	possibly damaging	Het
Bmi1	C	T	2: 18,684,303	T266I	probably damaging	Het
Cdh26	A	G	2: 178,462,724	I301V	probably damaging	Het
Cenpx	A	T	11: 120,711,732	H68Q	unknown	Het
Cnot10	T	C	9: 114,610,670	R524G	probably benign	Het
Cnpy1	A	T	5: 28,209,208	Y22*	probably null	Het
Csmd3	C	T	15: 47,636,398	R2114H		Het
Defa29	T	A	8: 21,326,046	T102S	probably benign	Het
Fras1	T	C	5: 96,596,852	I582T	probably benign	Het
Gm14295	G	A	2: 176,809,629	C304Y	probably damaging	Het
Gucy2d	T	C	7: 98,443,839	V141A	possibly damaging	Het
Ifi47	A	C	11: 49,095,598	Q64P	probably damaging	Het
Irx3	G	T	8: 91,800,400	S225R	possibly damaging	Het
Itpr1	A	G	6: 108,363,620	H289R	probably benign	Het
Lamc3	A	G	2: 31,912,116	D512G	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Med23	C	A	10: 24,908,734	F1200L	probably benign	Het
Ndst4	A	T	3: 125,570,790	D372V	possibly damaging	Het
Nob1	T	A	8: 107,421,598	K71*	probably null	Het
Ntrk3	A	G	7: 78,356,149	I488T	probably benign	Het
Pds5b	G	T	5: 150,719,959	C82F	probably damaging	Het
Pkd1l3	T	A	8: 109,633,390	V969E	possibly damaging	Het
Ppme1	A	T	7: 100,335,091	N307K	probably benign	Het
Pus7l	C	T	15: 94,527,975	C515Y	probably benign	Het
Rpp21	T	A	17: 36,257,699	H22L	possibly damaging	Het
Scgb1b7	A	T	7: 31,712,954	K52*	probably null	Het
Slc12a3	T	C	8: 94,334,067	I261T	probably damaging	Het
Slc19a3	C	T	1: 83,014,812	R396H	probably damaging	Het
Slc22a14	T	C	9: 119,180,856	I58V	probably benign	Het
Slc9a9	A	C	9: 95,229,039	T637P	probably damaging	Het
Snrnp40	T	A	4: 130,384,523	C274S	possibly damaging	Het
Sptbn1	A	G	11: 30,138,457	V905A	probably damaging	Het
Taok3	A	G	5: 117,266,037	D759G	possibly damaging	Het
Tas1r1	T	C	4: 152,032,576	I200M	probably benign	Het
Tnfrsf25	T	C	4: 152,119,682	V360A	possibly damaging	Het
Trim12a	A	T	7: 104,304,337	M189K	possibly damaging	Het
Tspan32	T	C	7: 143,005,958	F41L	probably benign	Het
Tube1	T	A	10: 39,145,661	S301T	possibly damaging	Het
Usp8	T	C	2: 126,742,658	S596P	probably benign	Het
Virma	T	A	4: 11,521,261		probably null	Het
Vmn2r58	T	C	7: 41,864,298	D307G	probably benign	Het
Zeb2	T	C	2: 44,998,952	K327R	probably damaging	Het
Zfp54	C	T	17: 21,434,648	T468M	probably benign	Het
Zfp780b	A	T	7: 27,963,126	I668N	possibly 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
R0908:Scamp3	UTSW	3	89179439	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- GGGCTACAGTGAGATGCAGT -3'
(R):5'- CATAGAGTGCCCTGACTTCAG -3'

Sequencing Primer
(F):5'- TGAGATGCAGTGAGAGGTGATG -3'
(R):5'- GAGTGCCCTGACTTCAGTTACATTAG -3'

Posted On

2020-10-20