Mutagenetix > Incidental Mutation

Incidental Mutation 'R5783:Scamp5'

447871

Institutional Source

Beutler Lab

Gene Symbol

Scamp5

Ensembl Gene

ENSMUSG00000040722

Gene Name

secretory carrier membrane protein 5

Synonyms

Sc5

MMRRC Submission

043380-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5783 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57348610-57375343 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 57353353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046587] [ENSMUST00000046587] [ENSMUST00000213771] [ENSMUST00000214256] [ENSMUST00000214256] [ENSMUST00000215734]

AlphaFold

Q9JKD3

Predicted Effect

probably null
Transcript: ENSMUST00000046587

SMART Domains

Protein: ENSMUSP00000035898
Gene: ENSMUSG00000040722

Domain	Start	End	E-Value	Type
Pfam:SCAMP	5	179	2.1e-69	PFAM
low complexity region	201	218	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000046587

SMART Domains

Protein: ENSMUSP00000035898
Gene: ENSMUSG00000040722

Domain	Start	End	E-Value	Type
Pfam:SCAMP	5	179	2.1e-69	PFAM
low complexity region	201	218	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000213771

Predicted Effect

probably null
Transcript: ENSMUST00000214256

Predicted Effect

probably null
Transcript: ENSMUST00000214256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215208

Predicted Effect

probably benign
Transcript: ENSMUST00000215734

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Scamp (secretory carrier membrane protein) family. The encoded protein may be involved in neuronal vesicle trafficking. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,468,787 (GRCm39)	Y48F	probably damaging	Het
Apob	A	G	12: 8,051,022 (GRCm39)	D1082G	probably damaging	Het
Cald1	G	A	6: 34,730,468 (GRCm39)	A236T	possibly damaging	Het
Ccdc88b	A	C	19: 6,831,284 (GRCm39)	C553G	probably benign	Het
Cenpe	A	G	3: 134,967,341 (GRCm39)	D2161G	probably benign	Het
Cep78	G	T	19: 15,933,723 (GRCm39)	N618K	probably benign	Het
Chka	A	G	19: 3,914,661 (GRCm39)	N118D	probably damaging	Het
Dennd5a	A	C	7: 109,493,843 (GRCm39)	I1263S	probably damaging	Het
Dnaaf9	A	C	2: 130,581,003 (GRCm39)	F582L	possibly damaging	Het
Dnm3	T	C	1: 162,183,040 (GRCm39)	T92A	possibly damaging	Het
Dpp9	T	C	17: 56,518,655 (GRCm39)	K50E	probably damaging	Het
Fen1	G	T	19: 10,178,194 (GRCm39)	Y83*	probably null	Het
Gm1110	A	G	9: 26,793,632 (GRCm39)	I532T	probably benign	Het
H2bc21	T	C	3: 96,128,615 (GRCm39)	V45A	possibly damaging	Het
Impdh1	A	T	6: 29,206,342 (GRCm39)	F140Y	possibly damaging	Het
Kcnc4	T	C	3: 107,355,188 (GRCm39)	D420G	possibly damaging	Het
Kctd19	A	G	8: 106,113,612 (GRCm39)	V664A	probably benign	Het
Krt80	C	T	15: 101,257,360 (GRCm39)		probably null	Het
Lars2	T	G	9: 123,290,661 (GRCm39)	M876R	probably benign	Het
Lrrc9	A	G	12: 72,502,827 (GRCm39)	E266G	possibly damaging	Het
Mesd	T	A	7: 83,544,883 (GRCm39)	V120E	probably damaging	Het
Mogs	C	T	6: 83,095,652 (GRCm39)	T823I	probably damaging	Het
Mrgprh	C	A	17: 13,096,333 (GRCm39)	T191N	probably benign	Het
Mtss1	C	T	15: 58,815,373 (GRCm39)	S729N	probably benign	Het
Muc5b	G	T	7: 141,412,165 (GRCm39)	E1704*	probably null	Het
Or2ag13	C	A	7: 106,472,541 (GRCm39)	V304F	probably damaging	Het
Or51m1	A	T	7: 103,578,149 (GRCm39)	I40F	probably damaging	Het
Or8k30	T	C	2: 86,338,982 (GRCm39)	Y60H	probably damaging	Het
Osbpl8	T	A	10: 111,103,644 (GRCm39)	L216*	probably null	Het
Pcdha5	T	C	18: 37,095,534 (GRCm39)	V681A	probably benign	Het
Pgap3	A	C	11: 98,281,290 (GRCm39)	V190G	probably benign	Het
Ppp2r5a	A	T	1: 191,086,837 (GRCm39)	Y373N	probably damaging	Het
Prkdc	T	C	16: 15,535,665 (GRCm39)	L1675P	probably damaging	Het
Rapgef2	T	G	3: 78,995,300 (GRCm39)	I635L	probably benign	Het
Rusc1	T	C	3: 88,995,452 (GRCm39)	D193G	probably damaging	Het
Ryr3	C	T	2: 112,483,343 (GRCm39)	V4140I	probably benign	Het
Shoc1	A	T	4: 59,076,239 (GRCm39)	L568*	probably null	Het
Slc41a3	T	C	6: 90,596,524 (GRCm39)	I31T	probably benign	Het
Smad9	T	C	3: 54,701,863 (GRCm39)	V368A	probably benign	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
St8sia1	T	C	6: 142,909,340 (GRCm39)	N52S	possibly damaging	Het
Svop	T	G	5: 114,202,996 (GRCm39)	D72A	possibly damaging	Het
Sybu	T	C	15: 44,609,810 (GRCm39)	I153V	probably damaging	Het
Tmem266	G	T	9: 55,305,087 (GRCm39)	S32I	probably damaging	Het
Trpm4	G	T	7: 44,959,813 (GRCm39)	R694S	probably benign	Het
Uqcrfs1	A	G	13: 30,729,187 (GRCm39)	L15P	probably damaging	Het
Vrtn	T	A	12: 84,697,251 (GRCm39)	L667Q	probably benign	Het
Zc3h14	T	A	12: 98,723,434 (GRCm39)	S241R	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,723,440 (GRCm39)		probably benign	Het
Zfp617	C	A	8: 72,686,308 (GRCm39)	H213N	probably damaging	Het
Zfp638	G	A	6: 83,921,829 (GRCm39)	G652D	possibly damaging	Het
Zmiz2	T	C	11: 6,355,081 (GRCm39)	L916P	probably damaging	Het

Other mutations in Scamp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02691:Scamp5	APN	9	57,358,660 (GRCm39)	missense	probably damaging	1.00
R1636:Scamp5	UTSW	9	57,358,692 (GRCm39)	missense	possibly damaging	0.80
R2119:Scamp5	UTSW	9	57,354,508 (GRCm39)	missense	possibly damaging	0.61
R2120:Scamp5	UTSW	9	57,354,508 (GRCm39)	missense	possibly damaging	0.61
R2124:Scamp5	UTSW	9	57,354,508 (GRCm39)	missense	possibly damaging	0.61
R2280:Scamp5	UTSW	9	57,352,722 (GRCm39)	missense	probably benign	0.18
R2906:Scamp5	UTSW	9	57,351,146 (GRCm39)	missense	probably damaging	1.00
R4766:Scamp5	UTSW	9	57,359,319 (GRCm39)	critical splice acceptor site	probably null
R4911:Scamp5	UTSW	9	57,358,735 (GRCm39)	missense	probably damaging	1.00
R5414:Scamp5	UTSW	9	57,354,507 (GRCm39)	missense	probably benign
R5698:Scamp5	UTSW	9	57,352,716 (GRCm39)	missense	possibly damaging	0.72
R6520:Scamp5	UTSW	9	57,354,489 (GRCm39)	splice site	probably null
R7234:Scamp5	UTSW	9	57,354,423 (GRCm39)	missense	probably damaging	1.00
R7703:Scamp5	UTSW	9	57,354,465 (GRCm39)	missense	possibly damaging	0.89
R8071:Scamp5	UTSW	9	57,350,969 (GRCm39)	missense	probably damaging	1.00
R8905:Scamp5	UTSW	9	57,352,669 (GRCm39)	missense	probably benign	0.01
Z1177:Scamp5	UTSW	9	57,350,959 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATTCACACAAGCCACTCAGTG -3'
(R):5'- TTTGCCCAGAGGAGCTTTGG -3'

Sequencing Primer
(F):5'- GATTTCTGAGTTCGAGACCAGCC -3'
(R):5'- TGGGAGCTCGAGTGCAG -3'

Posted On

2016-12-15