Incidental Mutation 'R1400:Scamp1'
ID 160347
Institutional Source Beutler Lab
Gene Symbol Scamp1
Ensembl Gene ENSMUSG00000021687
Gene Name secretory carrier membrane protein 1
Synonyms 4930505M11Rik
MMRRC Submission 039462-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1400 (G1)
Quality Score 205
Status Not validated
Chromosome 13
Chromosomal Location 94337818-94422339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94361455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 142 (F142L)
Ref Sequence ENSEMBL: ENSMUSP00000120053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022197] [ENSMUST00000138255] [ENSMUST00000152555] [ENSMUST00000153558]
AlphaFold Q8K021
Predicted Effect probably benign
Transcript: ENSMUST00000022197
AA Change: F194L

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022197
Gene: ENSMUSG00000021687
AA Change: F194L

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 probably benign
Transcript: ENSMUST00000138255
SMART Domains Protein: ENSMUSP00000121039
Gene: ENSMUSG00000021687

DomainStartEndE-ValueType
coiled coil region 23 62 N/A INTRINSIC
Pfam:SCAMP 64 116 2.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152555
AA Change: F142L

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123135
Gene: ENSMUSG00000021687
AA Change: F142L

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: F142L

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120053
Gene: ENSMUSG00000021687
AA Change: F142L

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130008F23Rik T C 17: 41,191,195 (GRCm39) E78G probably damaging Het
Acsf2 T C 11: 94,461,142 (GRCm39) I345V probably benign Het
Akap11 T A 14: 78,751,402 (GRCm39) K328N probably damaging Het
Aoc1 T A 6: 48,883,217 (GRCm39) Y364* probably null Het
Aoc1 A T 6: 48,883,645 (GRCm39) Q507L probably benign Het
Atp6v1c2 T C 12: 17,339,131 (GRCm39) T207A probably benign Het
Atr C A 9: 95,744,901 (GRCm39) Q73K probably benign Het
Cage1 A G 13: 38,216,400 (GRCm39) S17P possibly damaging Het
Cfap44 A T 16: 44,241,575 (GRCm39) I649F probably benign Het
Cops4 A G 5: 100,681,412 (GRCm39) K200R probably damaging Het
Crygd A G 1: 65,102,367 (GRCm39) S32P probably damaging Het
Cyp3a11 A G 5: 145,799,299 (GRCm39) I296T probably damaging Het
Fads3 A G 19: 10,033,664 (GRCm39) probably null Het
Fbn2 T C 18: 58,213,265 (GRCm39) E974G possibly damaging Het
Gcgr A G 11: 120,425,812 (GRCm39) H45R probably benign Het
Gcn1 T C 5: 115,752,220 (GRCm39) I2112T probably damaging Het
Gm43302 A T 5: 105,422,622 (GRCm39) I470N probably damaging Het
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Krt13 C A 11: 100,012,110 (GRCm39) G71V probably damaging Het
Las1l T C X: 94,990,506 (GRCm39) T390A possibly damaging Het
Lifr T A 15: 7,220,346 (GRCm39) V992E probably benign Het
Mbd5 T C 2: 49,164,788 (GRCm39) probably null Het
Mzf1 C A 7: 12,786,698 (GRCm39) R124L possibly damaging Het
Ndst3 A G 3: 123,350,477 (GRCm39) F636S probably damaging Het
Necab1 T C 4: 14,975,185 (GRCm39) D232G possibly damaging Het
Nlrp4e A T 7: 23,021,085 (GRCm39) E524V possibly damaging Het
Nxf3 T A X: 134,976,794 (GRCm39) T349S probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or4c12 T A 2: 89,773,886 (GRCm39) H191L possibly damaging Het
Or4n5 A T 14: 50,133,148 (GRCm39) I37K possibly damaging Het
Or7g29 A G 9: 19,286,358 (GRCm39) V273A probably damaging Het
Or9g19 T C 2: 85,600,477 (GRCm39) C111R possibly damaging Het
Plscr1l1 G T 9: 92,233,180 (GRCm39) C25F probably benign Het
Ppm1e T A 11: 87,122,592 (GRCm39) N455I probably damaging Het
Prkag2 G A 5: 25,078,916 (GRCm39) T158I probably damaging Het
Ptpn18 T C 1: 34,502,587 (GRCm39) probably null Het
Rai14 T G 15: 10,571,634 (GRCm39) K936N probably damaging Het
Rasgrf2 A G 13: 92,035,808 (GRCm39) L1077P probably damaging Het
Rgn C A X: 20,416,696 (GRCm39) Q27K probably benign Het
Ryr2 C T 13: 11,609,962 (GRCm39) S723N probably benign Het
Selenon A G 4: 134,278,829 (GRCm39) V67A probably benign Het
Slc5a5 T C 8: 71,342,079 (GRCm39) I292V possibly damaging Het
Smarca2 C A 19: 26,654,140 (GRCm39) T775K probably damaging Het
Stab1 C T 14: 30,861,787 (GRCm39) V2437I possibly damaging Het
Tas2r143 C T 6: 42,377,317 (GRCm39) A49V probably benign Het
Tlr7 T A X: 166,090,845 (GRCm39) N214Y probably damaging Het
Unc13a C A 8: 72,103,865 (GRCm39) D856Y probably damaging Het
Upp2 T C 2: 58,680,118 (GRCm39) Y263H probably damaging Het
Vill T C 9: 118,892,415 (GRCm39) S349P probably benign Het
Zfp644 T C 5: 106,785,336 (GRCm39) probably null Het
Zfp664 T C 5: 124,963,217 (GRCm39) C204R unknown Het
Zfp729b A G 13: 67,740,913 (GRCm39) Y451H possibly damaging 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
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
R9186:Scamp1 UTSW 13 94,344,682 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- CGCCAACTTTCCCTTTGAGGTACATAC -3'
(R):5'- GGCGTTTGTCTAAACTGCTCCACTG -3'

Sequencing Primer
(F):5'- tctatggcagggtctggc -3'
(R):5'- CTTCCAAGCTGTGTAAGAAGC -3'
Posted On 2014-03-14