Mutagenetix > Incidental Mutation

Incidental Mutation 'R7017:Scamp1'

545400

Institutional Source

Beutler Lab

Gene Symbol

Scamp1

Ensembl Gene

ENSMUSG00000021687

Gene Name

secretory carrier membrane protein 1

Synonyms

4930505M11Rik

MMRRC Submission

045118-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94337818-94422339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94361423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 152 (R152S)

Ref Sequence

ENSEMBL: ENSMUSP00000120053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022197] [ENSMUST00000138255] [ENSMUST00000152555] [ENSMUST00000153558]

AlphaFold

Q8K021

Predicted Effect

probably damaging
Transcript: ENSMUST00000022197
AA Change: R204S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022197
Gene: ENSMUSG00000021687
AA Change: R204S

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

probably benign
Transcript: ENSMUST00000138255

SMART Domains

Protein: ENSMUSP00000121039
Gene: ENSMUSG00000021687

Domain	Start	End	E-Value	Type
coiled coil region	23	62	N/A	INTRINSIC
Pfam:SCAMP	64	116	2.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000152555
AA Change: R152S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123135
Gene: ENSMUSG00000021687
AA Change: R152S

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

probably damaging
Transcript: ENSMUST00000153558
AA Change: R152S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120053
Gene: ENSMUSG00000021687
AA Change: R152S

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	A	G	17: 37,288,926 (GRCm39)		probably benign	Het
Acot3	A	T	12: 84,100,077 (GRCm39)		probably benign	Het
Add3	T	A	19: 53,222,284 (GRCm39)	V297E	possibly damaging	Het
Arfgap1	C	G	2: 180,618,097 (GRCm39)		probably null	Het
Cacna1i	T	C	15: 80,264,671 (GRCm39)	F1500L	probably damaging	Het
Cacna1s	T	C	1: 136,023,596 (GRCm39)	I945T	probably damaging	Het
Ccdc180	T	A	4: 45,940,934 (GRCm39)	N1334K	possibly damaging	Het
Cd5l	C	A	3: 87,273,368 (GRCm39)	Y112*	probably null	Het
Cracd	GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GAGACAACGCGAGGCCGAGAGGCAGG	5: 77,004,795 (GRCm39)		probably benign	Het
Cyp2d40	A	T	15: 82,644,234 (GRCm39)	F297Y	unknown	Het
Ddx4	C	T	13: 112,738,022 (GRCm39)	V546I	probably damaging	Het
Dgkg	T	C	16: 22,391,463 (GRCm39)	M332V	probably benign	Het
Dnah12	T	C	14: 26,456,835 (GRCm39)	I867T	probably benign	Het
Dnah2	T	A	11: 69,382,373 (GRCm39)	K1246*	probably null	Het
Drd2	G	A	9: 49,312,129 (GRCm39)	V161I	probably benign	Het
Dsp	A	G	13: 38,370,683 (GRCm39)	D862G	probably benign	Het
Ephx4	T	C	5: 107,553,980 (GRCm39)	F10S	probably damaging	Het
Fabp9	C	A	3: 10,259,756 (GRCm39)	A76S	possibly damaging	Het
Fat4	G	A	3: 38,945,692 (GRCm39)	M1528I	probably benign	Het
Fbxl12	A	G	9: 20,529,616 (GRCm39)	S84P	unknown	Het
Fbxo40	T	C	16: 36,790,732 (GRCm39)	D126G	probably damaging	Het
Fpr1	C	T	17: 18,097,654 (GRCm39)	V112I	probably benign	Het
Frem2	T	C	3: 53,427,023 (GRCm39)	N2975S	probably benign	Het
Gask1a	T	C	9: 121,795,052 (GRCm39)		probably null	Het
Gm7945	T	C	14: 41,105,610 (GRCm39)	Y156C		Het
Gnpat	T	C	8: 125,590,014 (GRCm39)	V13A	probably benign	Het
Gpx5	G	A	13: 21,475,561 (GRCm39)	P55L	probably damaging	Het
Hbp1	A	G	12: 31,993,852 (GRCm39)	S59P	probably damaging	Het
Ighv1-36	T	A	12: 114,843,533 (GRCm39)	D109V	probably damaging	Het
Iqcf5	T	A	9: 106,392,863 (GRCm39)	I40N	possibly damaging	Het
Kcnma1	T	G	14: 23,544,711 (GRCm39)	I484L	possibly damaging	Het
Kera	A	T	10: 97,444,939 (GRCm39)	R99S	possibly damaging	Het
Kif3b	T	A	2: 153,171,644 (GRCm39)	S707R	possibly damaging	Het
Lilra6	G	T	7: 3,911,707 (GRCm39)	T317N	possibly damaging	Het
Lrrc15	C	T	16: 30,091,780 (GRCm39)	E520K	probably benign	Het
Lrrc34	C	T	3: 30,699,465 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,983,745 (GRCm39)	T163A	probably benign	Het
Met	T	A	6: 17,491,286 (GRCm39)	L16*	probably null	Het
Mpzl2	G	T	9: 44,958,587 (GRCm39)	D108Y	probably benign	Het
Mrgprb2	T	A	7: 48,202,585 (GRCm39)	I47F	probably benign	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Mybphl	T	A	3: 108,282,154 (GRCm39)	V128E	probably damaging	Het
Nckap5	A	T	1: 126,030,398 (GRCm39)	D231E	probably damaging	Het
Or5g23	T	A	2: 85,438,673 (GRCm39)	M194L	probably benign	Het
Orm1	T	A	4: 63,263,448 (GRCm39)	I87K	probably benign	Het
Pdgfrb	C	T	18: 61,214,076 (GRCm39)	P954S	probably benign	Het
Pdzd8	G	T	19: 59,333,784 (GRCm39)	S79*	probably null	Het
Pdzd9	T	A	7: 120,262,225 (GRCm39)	H79L	probably benign	Het
Plcg1	A	T	2: 160,600,017 (GRCm39)	I926F	probably damaging	Het
Plec	A	T	15: 76,057,741 (GRCm39)	F4078L	probably damaging	Het
Plek	G	A	11: 17,002,220 (GRCm39)		probably benign	Het
Pogz	T	C	3: 94,761,335 (GRCm39)	I25T	probably damaging	Het
Ppfia3	A	T	7: 45,008,224 (GRCm39)	D215E	probably benign	Het
Psg22	C	A	7: 18,458,366 (GRCm39)	S352R	probably benign	Het
Ptchd4	A	G	17: 42,813,626 (GRCm39)	Y509C	probably damaging	Het
Ralgapb	C	A	2: 158,290,257 (GRCm39)	N389K	probably benign	Het
Rdh1	A	G	10: 127,598,906 (GRCm39)	D129G	probably benign	Het
Rimbp3	A	G	16: 17,027,610 (GRCm39)	T345A	probably benign	Het
S100a14	T	C	3: 90,434,602 (GRCm39)		probably null	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Srf	T	C	17: 46,861,830 (GRCm39)	T383A	probably benign	Het
St6galnac5	T	C	3: 152,552,040 (GRCm39)	M176V	probably damaging	Het
St8sia1	C	A	6: 142,813,632 (GRCm39)	V177F	probably damaging	Het
Syt12	C	T	19: 4,510,895 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,813,934 (GRCm39)	I1793V	probably benign	Het
Tas2r123	A	G	6: 132,824,513 (GRCm39)	I137V	probably benign	Het
Tenm2	T	A	11: 36,062,236 (GRCm39)	Y543F	probably damaging	Het
Tent5b	T	C	4: 133,213,545 (GRCm39)	S139P	possibly damaging	Het
Tgfbr1	T	C	4: 47,410,728 (GRCm39)	I488T	probably damaging	Het
Tgm1	T	A	14: 55,942,398 (GRCm39)	Y651F	possibly damaging	Het
Thbs3	A	T	3: 89,131,722 (GRCm39)	D698V	probably damaging	Het
Tpra1	T	A	6: 88,885,294 (GRCm39)	I82N	probably damaging	Het
Ubr4	T	A	4: 139,120,401 (GRCm39)	D275E	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wwp1	T	C	4: 19,623,124 (GRCm39)	Y787C	probably damaging	Het
Znfx1	T	C	2: 166,890,454 (GRCm39)	S677G	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
R6128:Scamp1	UTSW	13	94,344,735 (GRCm39)	missense	possibly damaging	0.80
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'- AATACGCCAACTTTCCCTTTGAGG -3'
(R):5'- TGCAAACATTCTGTCTGTCTTACG -3'

Sequencing Primer
(F):5'- TCCCTTTGAGGTACATACAATACAG -3'
(R):5'- GATCCCACAGTCCATGCAGTG -3'

Posted On

2019-05-13