Incidental Mutation 'R9186:Scamp1'
ID 697397
Institutional Source Beutler Lab
Gene Symbol Scamp1
Ensembl Gene ENSMUSG00000021687
Gene Name secretory carrier membrane protein 1
Synonyms 4930505M11Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9186 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 94337818-94422339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94344682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 272 (T272S)
Ref Sequence ENSEMBL: ENSMUSP00000022197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022197] [ENSMUST00000152555] [ENSMUST00000153558]
AlphaFold Q8K021
Predicted Effect possibly damaging
Transcript: ENSMUST00000022197
AA Change: T272S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022197
Gene: ENSMUSG00000021687
AA Change: T272S

DomainStartEndE-ValueType
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: T220S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123135
Gene: ENSMUSG00000021687
AA Change: T220S

DomainStartEndE-ValueType
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: T220S

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120053
Gene: ENSMUSG00000021687
AA Change: T220S

DomainStartEndE-ValueType
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: 99.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,164,472 (GRCm39) R634L probably damaging Het
Ankhd1 T C 18: 36,767,383 (GRCm39) I210T possibly damaging Het
Ankle2 G A 5: 110,400,610 (GRCm39) V649M possibly damaging Het
Arid3b A T 9: 57,702,217 (GRCm39) probably null Het
Arl10 A G 13: 54,726,620 (GRCm39) N133D probably damaging Het
Bag6 C T 17: 35,363,667 (GRCm39) R784W probably damaging Het
Ccnl1 T C 3: 65,865,426 (GRCm39) T42A unknown Het
Cd164 C A 10: 41,404,695 (GRCm39) P151Q probably damaging Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Ceacam2 T A 7: 25,227,213 (GRCm39) N218I probably damaging Het
Cfap97 C T 8: 46,644,665 (GRCm39) R466C possibly damaging Het
Colgalt2 C A 1: 152,384,403 (GRCm39) T581K probably damaging Het
Dnah11 T A 12: 118,154,632 (GRCm39) D216V probably benign Het
Dusp13b A T 14: 21,798,563 (GRCm39) S34T probably damaging Het
Esf1 T A 2: 139,990,792 (GRCm39) K564I possibly damaging Het
F5 A G 1: 164,021,470 (GRCm39) N1315S probably benign Het
Fubp1 A T 3: 151,926,153 (GRCm39) M292L probably damaging Het
Gabrb2 A T 11: 42,378,200 (GRCm39) M139L possibly damaging Het
Gk5 T A 9: 96,015,469 (GRCm39) V95D probably benign Het
Glcci1 C A 6: 8,537,826 (GRCm39) P148Q possibly damaging Het
Gm19410 A T 8: 36,282,629 (GRCm39) S1952C possibly damaging Het
Gstm4 T C 3: 107,952,049 (GRCm39) probably benign Het
Heatr1 T A 13: 12,436,227 (GRCm39) L1211Q probably damaging Het
Helz2 A G 2: 180,876,457 (GRCm39) S1346P possibly damaging Het
Hexb A C 13: 97,325,836 (GRCm39) V158G probably damaging Het
Hipk3 T C 2: 104,301,439 (GRCm39) E251G probably damaging Het
Hps5 T C 7: 46,438,370 (GRCm39) Y89C probably damaging Het
Iqub A T 6: 24,450,766 (GRCm39) V611D possibly damaging Het
Itgbl1 G A 14: 124,094,970 (GRCm39) D332N probably benign Het
Krtap26-1 C A 16: 88,444,609 (GRCm39) R4L unknown Het
Lgi3 A G 14: 70,772,193 (GRCm39) Y246C probably damaging Het
Mug2 T A 6: 122,052,248 (GRCm39) I1002N probably damaging Het
Myo18a C T 11: 77,749,847 (GRCm39) T66M Het
Naip6 T C 13: 100,436,390 (GRCm39) D711G possibly damaging Het
Or4f59 C A 2: 111,873,095 (GRCm39) C94F probably damaging Het
Orc5 T A 5: 22,752,944 (GRCm39) Q48L probably benign Het
Oxct2a C A 4: 123,216,461 (GRCm39) A307S probably damaging Het
Pgls T C 8: 72,048,833 (GRCm39) *258Q probably null Het
Plekha6 C T 1: 133,220,171 (GRCm39) R955W probably damaging Het
Polr1c G T 17: 46,556,633 (GRCm39) N97K probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Prtg T C 9: 72,764,159 (GRCm39) V544A probably benign Het
Rbl2 G A 8: 91,828,006 (GRCm39) G574S probably damaging Het
Sun2 T A 15: 79,611,737 (GRCm39) D562V probably damaging Het
Szt2 A G 4: 118,242,288 (GRCm39) F1565S probably damaging Het
Tatdn2 C T 6: 113,687,125 (GRCm39) R779C probably benign Het
Tbc1d30 T C 10: 121,111,639 (GRCm39) I430V probably benign Het
Tmem86b T C 7: 4,632,725 (GRCm39) D43G probably damaging Het
Tnrc18 T C 5: 142,773,488 (GRCm39) N447S Het
Trmt2a T C 16: 18,069,033 (GRCm39) S292P probably benign Het
Trpc2 T C 7: 101,737,492 (GRCm39) V428A probably damaging Het
Tsc2 T C 17: 24,823,862 (GRCm39) E981G probably damaging Het
Ucp1 G T 8: 84,017,272 (GRCm39) G21* probably null Het
Utrn T C 10: 12,490,318 (GRCm39) T21A probably benign Het
Vapa A T 17: 65,900,507 (GRCm39) N88K probably damaging Het
Wasl T C 6: 24,664,615 (GRCm39) R10G probably damaging Het
Zan C A 5: 137,391,810 (GRCm39) V4662F unknown Het
Zap70 G A 1: 36,818,832 (GRCm39) M382I possibly damaging Het
Zdhhc17 T C 10: 110,780,281 (GRCm39) I624M probably benign Het
Other mutations in Scamp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CTGGATTTTCAAGTCAGGGATG -3'
(R):5'- CTGATGTTGCCTGGTGTCAC -3'

Sequencing Primer
(F):5'- TGCGTCTGTAAACAACCATAAATC -3'
(R):5'- TGTCACAGTGCTGCCTG -3'
Posted On 2022-02-07