Incidental Mutation 'R5206:Scamp1'
| ID |
402042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scamp1
|
| Ensembl Gene |
ENSMUSG00000021687 |
| Gene Name |
secretory carrier membrane protein 1 |
| Synonyms |
4930505M11Rik |
| MMRRC Submission |
042781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5206 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
94337818-94422339 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 94368615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 51
(R51H)
|
| 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: R103H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022197
Gene: ENSMUSG00000021687
AA Change: R103H
| 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: R51H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121039
Gene: ENSMUSG00000021687
AA Change: R51H
| 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: R51H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123135
Gene: ENSMUSG00000021687
AA Change: R51H
| 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: R51H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120053
Gene: ENSMUSG00000021687
AA Change: R51H
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,772,272 (GRCm39) |
E487G |
probably benign |
Het |
| 2610021A01Rik |
A |
T |
7: 41,276,009 (GRCm39) |
K571* |
probably null |
Het |
| A2m |
T |
C |
6: 121,651,766 (GRCm39) |
V1278A |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,806,589 (GRCm39) |
V801A |
probably damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,731 (GRCm39) |
D418E |
possibly damaging |
Het |
| Bsn |
G |
A |
9: 107,982,572 (GRCm39) |
A3727V |
unknown |
Het |
| Cmah |
T |
G |
13: 24,648,267 (GRCm39) |
F501V |
probably damaging |
Het |
| Csf2rb2 |
T |
A |
15: 78,176,952 (GRCm39) |
I173L |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,491,942 (GRCm39) |
W1126R |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 68,000,633 (GRCm39) |
A1690E |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,598,472 (GRCm39) |
L1879P |
probably damaging |
Het |
| Eif3j2 |
A |
T |
18: 43,610,647 (GRCm39) |
D55E |
probably benign |
Het |
| Fam83f |
G |
A |
15: 80,576,255 (GRCm39) |
G302D |
possibly damaging |
Het |
| Fus |
G |
A |
7: 127,568,969 (GRCm39) |
G40D |
unknown |
Het |
| Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
T |
C |
6: 100,781,576 (GRCm39) |
V417A |
probably damaging |
Het |
| Hhipl1 |
G |
A |
12: 108,278,437 (GRCm39) |
R255H |
probably damaging |
Het |
| Ints8 |
A |
T |
4: 11,216,477 (GRCm39) |
I838N |
possibly damaging |
Het |
| Lama5 |
C |
A |
2: 179,833,097 (GRCm39) |
C1579F |
probably damaging |
Het |
| Med13 |
C |
T |
11: 86,210,705 (GRCm39) |
R479H |
probably damaging |
Het |
| Or51ag1 |
A |
T |
7: 103,155,309 (GRCm39) |
Y281* |
probably null |
Het |
| Or5b113 |
G |
T |
19: 13,342,429 (GRCm39) |
G146C |
possibly damaging |
Het |
| Or5k15 |
G |
T |
16: 58,710,381 (GRCm39) |
N67K |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,520,155 (GRCm39) |
M66L |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,589,967 (GRCm39) |
Y251F |
probably benign |
Het |
| Pak6 |
A |
G |
2: 118,523,784 (GRCm39) |
E313G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,224,549 (GRCm39) |
Y145N |
probably damaging |
Het |
| Pla2g2f |
T |
A |
4: 138,479,662 (GRCm39) |
D165V |
probably benign |
Het |
| Plbd1 |
C |
T |
6: 136,618,154 (GRCm39) |
V133M |
probably benign |
Het |
| Ppp1r14bl |
C |
T |
1: 23,141,183 (GRCm39) |
G44R |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,675,056 (GRCm39) |
Y1352C |
probably damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Slc2a2 |
G |
A |
3: 28,762,756 (GRCm39) |
V100M |
probably damaging |
Het |
| Slc38a10 |
C |
G |
11: 119,995,888 (GRCm39) |
A1062P |
probably damaging |
Het |
| Snai1 |
T |
C |
2: 167,380,888 (GRCm39) |
I127T |
probably benign |
Het |
| Stat4 |
G |
A |
1: 52,144,395 (GRCm39) |
G692D |
probably damaging |
Het |
| Stc1 |
A |
T |
14: 69,269,048 (GRCm39) |
D72V |
probably damaging |
Het |
| Tmc1 |
T |
C |
19: 20,804,024 (GRCm39) |
N351S |
probably damaging |
Het |
| Trim28 |
A |
G |
7: 12,759,275 (GRCm39) |
I130V |
probably benign |
Het |
| Trim39 |
A |
G |
17: 36,571,382 (GRCm39) |
Y459H |
probably damaging |
Het |
| Ugt1a6b |
C |
A |
1: 88,035,170 (GRCm39) |
Y169* |
probably null |
Het |
| Vasp |
T |
C |
7: 18,992,780 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
G |
T |
17: 19,598,868 (GRCm39) |
G184V |
probably benign |
Het |
| Xrcc1 |
C |
T |
7: 24,266,988 (GRCm39) |
T358I |
probably damaging |
Het |
| Zfp219 |
A |
G |
14: 52,247,022 (GRCm39) |
V35A |
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 |
|
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 |
|
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'- CAAGATCAGAGAGCTGCAGGTATC -3'
(R):5'- GTCCCTGAAGGCTTCCATAAC -3'
Sequencing Primer
(F):5'- CTGCAGGTATCAAGTAAGCAATCTGC -3'
(R):5'- GCTATAGTTTTCAGTGAATCCCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation