Mutagenetix > Incidental Mutation

Incidental Mutation 'R6128:Scamp1'

487537

Institutional Source

Beutler Lab

Gene Symbol

Scamp1

Ensembl Gene

ENSMUSG00000021687

Gene Name

secretory carrier membrane protein 1

Synonyms

4930505M11Rik

MMRRC Submission

044275-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94337818-94422339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94344735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 202 (L202R)

Ref Sequence

ENSEMBL: ENSMUSP00000123135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022197] [ENSMUST00000152555] [ENSMUST00000153558]

AlphaFold

Q8K021

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022197
AA Change: L254R

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022197
Gene: ENSMUSG00000021687
AA Change: L254R

Domain	Start	End	E-Value	Type
coiled coil region	75	114	N/A	INTRINSIC
Pfam:SCAMP	117	292	7.4e-74	PFAM
low complexity region	314	332	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152555
AA Change: L202R

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123135
Gene: ENSMUSG00000021687
AA Change: L202R

Domain	Start	End	E-Value	Type
coiled coil region	23	62	N/A	INTRINSIC
Pfam:SCAMP	64	241	2.3e-78	PFAM
low complexity region	262	280	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153558
AA Change: L202R

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120053
Gene: ENSMUSG00000021687
AA Change: L202R

Domain	Start	End	E-Value	Type
coiled coil region	23	62	N/A	INTRINSIC
Pfam:SCAMP	64	241	2.3e-78	PFAM
low complexity region	262	280	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the SCAMP family of proteins, which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that these protein family members may function at the same site during vesicular transport rather than in separate pathways. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit any overt abnormalities, but final cell capacitance of mast cells completing exocytosis was smaller than controls and an increased proportion of reversible fusion events was noted. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
A430033K04Rik	A	G	5: 138,646,038 (GRCm39)	H641R	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Asah1	C	T	8: 41,807,092 (GRCm39)	V111M	probably damaging	Het
Ascc3	T	C	10: 50,526,734 (GRCm39)	L611P	probably damaging	Het
Atl2	C	A	17: 80,172,470 (GRCm39)		probably null	Het
Bhlhe22	A	T	3: 18,109,987 (GRCm39)	S346C	probably damaging	Het
Bicc1	T	C	10: 70,776,313 (GRCm39)		probably null	Het
Bptf	G	T	11: 106,965,516 (GRCm39)	A1163D	possibly damaging	Het
Bub1b	T	A	2: 118,448,293 (GRCm39)	C382S	probably benign	Het
Carmil1	A	T	13: 24,197,177 (GRCm39)	Y158*	probably null	Het
Ccdc175	A	T	12: 72,175,933 (GRCm39)	I473K	probably benign	Het
Ccdc18	A	G	5: 108,311,625 (GRCm39)	I444V	possibly damaging	Het
Cep131	T	A	11: 119,956,801 (GRCm39)	I880F	probably damaging	Het
Ces2e	T	A	8: 105,655,428 (GRCm39)	I117N	probably benign	Het
Clk2	C	T	3: 89,081,531 (GRCm39)	T289M	probably damaging	Het
Crocc2	A	T	1: 93,122,123 (GRCm39)	D672V	probably benign	Het
Cul7	T	A	17: 46,962,588 (GRCm39)	I73N	probably damaging	Het
Cyp2d12	C	A	15: 82,443,166 (GRCm39)	D358E	probably benign	Het
Cyp7a1	A	G	4: 6,272,788 (GRCm39)	S142P	possibly damaging	Het
Daw1	T	A	1: 83,183,647 (GRCm39)	C232*	probably null	Het
Dhx9	T	C	1: 153,353,835 (GRCm39)	K195R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpp3	A	G	19: 4,972,420 (GRCm39)	V168A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ercc6l2	T	C	13: 64,001,563 (GRCm39)	V459A	probably damaging	Het
Erp44	A	T	4: 48,243,493 (GRCm39)	N38K	probably damaging	Het
Fam135a	A	G	1: 24,069,821 (GRCm39)		probably null	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Fdps	T	C	3: 89,006,740 (GRCm39)	E117G	possibly damaging	Het
Gbp4	A	C	5: 105,283,030 (GRCm39)	V80G	possibly damaging	Het
Glt1d1	A	T	5: 127,754,335 (GRCm39)	D179V	probably damaging	Het
Gtf2a1l	T	A	17: 89,002,086 (GRCm39)	V314E	probably null	Het
Gzmf	G	T	14: 56,443,443 (GRCm39)	Y178*	probably null	Het
Hira	C	T	16: 18,751,727 (GRCm39)	P509S	probably benign	Het
Ifi44	T	C	3: 151,454,823 (GRCm39)	N134S	probably benign	Het
Igfbp2	T	A	1: 72,863,958 (GRCm39)	C74S	probably damaging	Het
Il24	A	G	1: 130,813,435 (GRCm39)	L54P	probably damaging	Het
Ints10	T	C	8: 69,274,904 (GRCm39)		probably null	Het
Ipo9	A	G	1: 135,318,311 (GRCm39)	C700R	possibly damaging	Het
Kalrn	T	A	16: 34,033,255 (GRCm39)	Q469L	probably damaging	Het
Lrp1b	T	G	2: 40,750,667 (GRCm39)	I2966L	probably benign	Het
Lta	C	A	17: 35,422,817 (GRCm39)	V169L	possibly damaging	Het
Lyst	T	C	13: 13,933,964 (GRCm39)	V3554A	possibly damaging	Het
Mobp	A	G	9: 119,997,392 (GRCm39)		probably benign	Het
Myorg	T	A	4: 41,498,445 (GRCm39)	N395I	probably damaging	Het
Or10d1	C	G	9: 39,484,549 (GRCm39)	R2T	probably benign	Het
Or4b1d	A	T	2: 89,968,954 (GRCm39)	C176*	probably null	Het
Or8c14-ps1	T	C	9: 38,101,299 (GRCm39)	S93P	probably benign	Het
Pacs1	A	T	19: 5,202,400 (GRCm39)		probably null	Het
Phf21a	G	T	2: 92,181,953 (GRCm39)		probably null	Het
Pick1	T	A	15: 79,123,896 (GRCm39)	M89K	probably damaging	Het
Pik3cb	T	C	9: 98,946,152 (GRCm39)	D558G	possibly damaging	Het
Pnma8a	A	G	7: 16,694,661 (GRCm39)	D172G	probably benign	Het
Polr2a	A	C	11: 69,627,803 (GRCm39)	V1368G	probably damaging	Het
Pomt2	A	G	12: 87,158,109 (GRCm39)		probably null	Het
Pou2f1	T	C	1: 165,703,056 (GRCm39)		probably benign	Het
Rnf145	T	C	11: 44,446,018 (GRCm39)	V284A	probably damaging	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr3	C	T	2: 112,784,639 (GRCm39)		probably null	Het
Snx25	C	T	8: 46,558,240 (GRCm39)	V110I	probably benign	Het
Spata31e2	G	A	1: 26,724,506 (GRCm39)	P225S	probably benign	Het
Susd6	T	A	12: 80,915,388 (GRCm39)	H124Q	possibly damaging	Het
Tarm1	T	C	7: 3,537,720 (GRCm39)	T248A	probably benign	Het
Tc2n	A	G	12: 101,675,748 (GRCm39)	M1T	probably null	Het
Tcerg1	C	A	18: 42,644,563 (GRCm39)		probably null	Het
Ticrr	C	A	7: 79,343,716 (GRCm39)	P1194T	probably damaging	Het
Trim31	T	G	17: 37,220,491 (GRCm39)	V469G	probably benign	Het
Vcp	T	C	4: 42,980,941 (GRCm39)	E723G	probably benign	Het
Vmn1r177	C	A	7: 23,565,267 (GRCm39)	S203I	probably damaging	Het
Vmn1r177	T	A	7: 23,565,268 (GRCm39)	S203C	probably damaging	Het
Vmn1r210	A	T	13: 23,012,277 (GRCm39)	L3*	probably null	Het
Wdr27	T	A	17: 15,152,796 (GRCm39)	R104*	probably null	Het
Wnk1	A	C	6: 119,940,747 (GRCm39)		probably null	Het
Zfp157	A	G	5: 138,453,281 (GRCm39)	E88G	possibly damaging	Het
Zfp708	A	T	13: 67,222,965 (GRCm39)	L22Q	probably damaging	Het
Zfp788	T	C	7: 41,299,785 (GRCm39)	F787S	probably damaging	Het

Other mutations in Scamp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01447:Scamp1	APN	13	94,340,530 (GRCm39)	missense	probably damaging	1.00
IGL02269:Scamp1	APN	13	94,368,694 (GRCm39)	splice site	probably benign
R0067:Scamp1	UTSW	13	94,340,658 (GRCm39)	missense	probably damaging	1.00
R0067:Scamp1	UTSW	13	94,340,658 (GRCm39)	missense	probably damaging	1.00
R0254:Scamp1	UTSW	13	94,347,088 (GRCm39)	missense	probably benign	0.00
R0367:Scamp1	UTSW	13	94,347,088 (GRCm39)	missense	probably benign	0.01
R0559:Scamp1	UTSW	13	94,344,690 (GRCm39)	missense	possibly damaging	0.79
R1147:Scamp1	UTSW	13	94,361,394 (GRCm39)	splice site	probably null
R1400:Scamp1	UTSW	13	94,361,455 (GRCm39)	missense	possibly damaging	0.53
R1499:Scamp1	UTSW	13	94,361,437 (GRCm39)	missense	probably benign	0.03
R5206:Scamp1	UTSW	13	94,368,615 (GRCm39)	missense	probably damaging	1.00
R5259:Scamp1	UTSW	13	94,368,594 (GRCm39)	missense	probably benign
R5300:Scamp1	UTSW	13	94,340,670 (GRCm39)	missense	probably damaging	0.99
R7017:Scamp1	UTSW	13	94,361,423 (GRCm39)	missense	probably damaging	0.98
R7219:Scamp1	UTSW	13	94,361,415 (GRCm39)	missense	probably damaging	1.00
R7242:Scamp1	UTSW	13	94,369,648 (GRCm39)	missense	probably benign	0.00
R7993:Scamp1	UTSW	13	94,366,294 (GRCm39)	missense	probably damaging	0.99
R9095:Scamp1	UTSW	13	94,369,598 (GRCm39)	missense	probably benign	0.01
R9169:Scamp1	UTSW	13	94,389,533 (GRCm39)	missense	probably benign	0.00
R9186:Scamp1	UTSW	13	94,344,682 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AAATGAGCCAGAGTCCCACG -3'
(R):5'- CAGACACAGACTGGTGCTTCTTAG -3'

Sequencing Primer
(F):5'- GAGTCCCACGGTCTAACAGCAG -3'
(R):5'- CTTCTTAGCTGTGGGACCCG -3'

Posted On

2017-10-10