Mutagenetix > Incidental Mutation

Incidental Mutation 'R7993:Scamp1'

651894

Institutional Source

Beutler Lab

Gene Symbol

Scamp1

Ensembl Gene

ENSMUSG00000021687

Gene Name

secretory carrier membrane protein 1

Synonyms

4930505M11Rik

MMRRC Submission

046034-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94337818-94422339 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94366294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 134 (Y134H)

Ref Sequence

ENSEMBL: ENSMUSP00000022197 (fasta)

Gene Model

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

AlphaFold

Q8K021

Predicted Effect

probably damaging
Transcript: ENSMUST00000022197
AA Change: Y134H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022197
Gene: ENSMUSG00000021687
AA Change: Y134H

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 damaging
Transcript: ENSMUST00000138255
AA Change: Y82H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121039
Gene: ENSMUSG00000021687
AA Change: Y82H

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: Y82H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123135
Gene: ENSMUSG00000021687
AA Change: Y82H

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: Y82H

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120053
Gene: ENSMUSG00000021687
AA Change: Y82H

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: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,803,231 (GRCm39)	V689D	possibly damaging	Het
Adamts17	T	C	7: 66,499,612 (GRCm39)	V53A	possibly damaging	Het
Adcy9	T	C	16: 4,235,866 (GRCm39)	N515S	probably damaging	Het
Aoc1l3	T	A	6: 48,964,542 (GRCm39)	N183K	possibly damaging	Het
Atp1a2	A	G	1: 172,118,878 (GRCm39)	V88A	possibly damaging	Het
Atp1a3	T	C	7: 24,700,406 (GRCm39)		probably null	Het
Baz2a	T	C	10: 127,961,491 (GRCm39)	F1706L	probably benign	Het
Cacnb2	A	C	2: 14,968,731 (GRCm39)	N199T	probably benign	Het
Caskin1	T	A	17: 24,718,279 (GRCm39)	Y296*	probably null	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Ciart	T	A	3: 95,786,206 (GRCm39)	K290*	probably null	Het
Cideb	G	T	14: 55,995,899 (GRCm39)		probably benign	Het
Copg2	A	T	6: 30,793,097 (GRCm39)	Y413N	probably damaging	Het
Csrp1	T	A	1: 135,674,453 (GRCm39)		probably null	Het
Cyp2j8	C	T	4: 96,335,456 (GRCm39)		probably null	Het
Dcbld1	T	A	10: 52,137,884 (GRCm39)	Y49*	probably null	Het
Dpep1	T	C	8: 123,927,460 (GRCm39)	V338A	possibly damaging	Het
Exoc2	A	G	13: 31,090,713 (GRCm39)		probably null	Het
Fcho2	A	T	13: 98,888,524 (GRCm39)		probably null	Het
Foxd3	C	T	4: 99,544,841 (GRCm39)		probably benign	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gipc3	T	C	10: 81,173,805 (GRCm39)	D269G	probably damaging	Het
Gm4861	G	A	3: 137,256,417 (GRCm39)	T63M	probably damaging	Het
Hmga1b	C	A	11: 120,653,833 (GRCm39)	A40E	probably damaging	Het
Hydin	T	A	8: 111,306,264 (GRCm39)	M3889K	probably benign	Het
Inhca	T	A	9: 103,140,332 (GRCm39)	K462N	probably benign	Het
Klk14	T	A	7: 43,344,367 (GRCm39)	M226K	probably benign	Het
Liph	T	G	16: 21,777,562 (GRCm39)	M413L	probably benign	Het
Lrrc37a	T	C	11: 103,348,787 (GRCm39)	D2636G	unknown	Het
Lrrk1	G	A	7: 65,912,202 (GRCm39)	T1786M	probably benign	Het
Map1a	A	G	2: 121,135,057 (GRCm39)	S1958G	possibly damaging	Het
Msto1	A	G	3: 88,817,481 (GRCm39)	F484S	probably benign	Het
Muc2	C	T	7: 141,308,173 (GRCm39)	H890Y		Het
Nectin3	T	C	16: 46,279,184 (GRCm39)	I265V	probably benign	Het
Nectin4	C	T	1: 171,211,322 (GRCm39)	T282I	probably damaging	Het
Nfat5	T	A	8: 108,082,134 (GRCm39)		probably null	Het
Nsmaf	T	C	4: 6,398,647 (GRCm39)	D819G	probably benign	Het
Or8b8	A	T	9: 37,808,633 (GRCm39)		probably benign	Het
Pcdhb1	A	T	18: 37,400,044 (GRCm39)	D665V	probably damaging	Het
Pkd1l1	T	C	11: 8,895,262 (GRCm39)	D616G		Het
Plppr2	A	T	9: 21,858,258 (GRCm39)	H286L	probably damaging	Het
Polrmt	T	C	10: 79,572,085 (GRCm39)	T1203A	probably damaging	Het
Ppm1d	T	A	11: 85,217,777 (GRCm39)	V180E	probably damaging	Het
Ppp1r18	T	A	17: 36,184,718 (GRCm39)	I551N	probably benign	Het
Psg28	C	T	7: 18,160,401 (GRCm39)	C265Y	possibly damaging	Het
Psmc1	A	G	12: 100,081,824 (GRCm39)	D142G	probably benign	Het
Rabgap1l	G	T	1: 160,528,424 (GRCm39)	A394E	probably damaging	Het
Rbm48	G	A	5: 3,640,470 (GRCm39)	P303L	probably benign	Het
Rnf167	T	C	11: 70,540,821 (GRCm39)	V185A	probably benign	Het
Ros1	T	A	10: 51,999,443 (GRCm39)	Q1169L	probably benign	Het
Rrp1b	A	G	17: 32,277,541 (GRCm39)	D607G	probably damaging	Het
Scfd1	G	A	12: 51,492,490 (GRCm39)	E600K	probably damaging	Het
Scn3b	A	G	9: 40,193,840 (GRCm39)	E189G	possibly damaging	Het
Scn4b	G	T	9: 45,059,007 (GRCm39)	V93L	probably benign	Het
Serpina3i	A	T	12: 104,231,407 (GRCm39)	T15S	possibly damaging	Het
Slc2a13	A	T	15: 91,296,356 (GRCm39)	C319*	probably null	Het
Tdrd1	A	G	19: 56,854,437 (GRCm39)		probably null	Het
Tep1	T	A	14: 51,067,710 (GRCm39)	I2169F	probably benign	Het
Tm4sf19	A	G	16: 32,226,458 (GRCm39)	D124G	possibly damaging	Het
Trim2	T	C	3: 84,098,026 (GRCm39)	Y434C	probably damaging	Het
Usp34	T	A	11: 23,327,622 (GRCm39)	S1056T		Het
Vmn1r230	T	A	17: 21,067,312 (GRCm39)	M167K	probably benign	Het
Vmn2r14	T	A	5: 109,363,862 (GRCm39)	M685L	probably benign	Het
Zfhx4	T	A	3: 5,478,047 (GRCm39)	V3554D	probably damaging	Het
Zfp1010	C	T	2: 176,957,015 (GRCm39)	G161D	probably damaging	Het
Zfp458	A	G	13: 67,405,234 (GRCm39)	S402P	probably damaging	Het
Zfp462	C	A	4: 55,011,907 (GRCm39)	A1291E	probably damaging	Het
Zmat5	G	A	11: 4,672,379 (GRCm39)		probably benign	Het
Znfx1	C	A	2: 166,897,857 (GRCm39)	E356*	probably null	Het
Zswim5	A	G	4: 116,808,291 (GRCm39)	T292A	probably benign	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
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
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'- ACTGTTCACTCTGAAGCTATGAC -3'
(R):5'- CAAGCACTGTAGTGTTTCATATGCC -3'

Sequencing Primer
(F):5'- GAACTCACGATGCGTTT -3'
(R):5'- GTGTTTCATATGCCATCTACCAAAAC -3'

Posted On

2020-09-15