Incidental Mutation 'R0067:Scamp1'
ID 158517
Institutional Source Beutler Lab
Gene Symbol Scamp1
Ensembl Gene ENSMUSG00000021687
Gene Name secretory carrier membrane protein 1
Synonyms 4930505M11Rik
MMRRC Submission 038358-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0067 (G1)
Quality Score 74
Status Validated
Chromosome 13
Chromosomal Location 94337818-94422339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94340658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 237 (Y237C)
Ref Sequence ENSEMBL: ENSMUSP00000120053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022197] [ENSMUST00000152555] [ENSMUST00000153558]
AlphaFold Q8K021
Predicted Effect probably damaging
Transcript: ENSMUST00000022197
AA Change: Y289C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022197
Gene: ENSMUSG00000021687
AA Change: Y289C

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 damaging
Transcript: ENSMUST00000152555
AA Change: Y237C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123135
Gene: ENSMUSG00000021687
AA Change: Y237C

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 probably damaging
Transcript: ENSMUST00000153558
AA Change: Y237C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120053
Gene: ENSMUSG00000021687
AA Change: Y237C

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
Meta Mutation Damage Score 0.2949 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.3%
Validation Efficiency 97% (63/65)
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
Actn4 C T 7: 28,610,995 (GRCm39) V248M possibly damaging Het
Adamts9 T A 6: 92,867,148 (GRCm39) K79N probably damaging Het
AW209491 A T 13: 14,812,328 (GRCm39) I394F probably benign Het
Cacna1d A T 14: 29,796,967 (GRCm39) probably benign Het
Cacna1i A T 15: 80,265,373 (GRCm39) I1542F probably damaging Het
Cep97 A T 16: 55,735,924 (GRCm39) N291K possibly damaging Het
Clasp2 A T 9: 113,689,209 (GRCm39) probably benign Het
Coq8b T C 7: 26,932,906 (GRCm39) L5P possibly damaging Het
Dennd1c T C 17: 57,382,465 (GRCm39) Q67R probably damaging Het
Dysf T C 6: 84,040,313 (GRCm39) V119A possibly damaging Het
Eml1 A G 12: 108,429,786 (GRCm39) D23G possibly damaging Het
Eva1c A T 16: 90,663,305 (GRCm39) D13V possibly damaging Het
Fam151b T C 13: 92,610,504 (GRCm39) K95R probably benign Het
Glo1 A T 17: 30,813,245 (GRCm39) probably null Het
Gm11360 T A 13: 28,140,214 (GRCm39) M26K probably benign Het
Gps2 C T 11: 69,805,607 (GRCm39) Q42* probably null Het
Gypa A G 8: 81,229,710 (GRCm39) H102R possibly damaging Het
Hdac4 G A 1: 91,957,706 (GRCm39) H103Y probably damaging Het
Hivep1 T A 13: 42,312,132 (GRCm39) D1457E probably benign Het
Hunk A G 16: 90,244,200 (GRCm39) D110G probably damaging Het
L3mbtl1 A G 2: 162,790,748 (GRCm39) K225E probably damaging Het
Limch1 A G 5: 67,131,965 (GRCm39) S143G probably damaging Het
Macf1 T C 4: 123,369,041 (GRCm39) K342E possibly damaging Het
Mc5r T A 18: 68,472,637 (GRCm39) M332K probably damaging Het
Memo1 A G 17: 74,532,453 (GRCm39) V185A probably damaging Het
Mtrex C T 13: 113,023,396 (GRCm39) V727I probably benign Het
Myf6 A T 10: 107,329,340 (GRCm39) probably null Het
Myh14 G A 7: 44,272,551 (GRCm39) T1418I probably benign Het
Pbk G A 14: 66,052,675 (GRCm39) V173I possibly damaging Het
Plekha5 C T 6: 140,470,629 (GRCm39) T90I probably damaging Het
Ptbp2 T C 3: 119,514,290 (GRCm39) T478A probably benign Het
Rasgrp1 C A 2: 117,125,301 (GRCm39) R246S probably damaging Het
Rflnb A T 11: 75,912,987 (GRCm39) S134T possibly damaging Het
Rnf214 A G 9: 45,778,796 (GRCm39) probably null Het
Rps6ka5 T A 12: 100,582,342 (GRCm39) I177F probably damaging Het
Rtn2 T A 7: 19,028,396 (GRCm39) probably benign Het
Satb1 T C 17: 52,111,364 (GRCm39) T165A probably damaging Het
Skint10 A T 4: 112,568,753 (GRCm39) F321L probably benign Het
Slc36a2 A G 11: 55,053,466 (GRCm39) probably benign Het
Slc8a1 A G 17: 81,745,188 (GRCm39) V672A probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sp140l2 T A 1: 85,247,773 (GRCm39) N5Y probably benign Het
Spats2 C A 15: 99,110,168 (GRCm39) P522T possibly damaging Het
Stkld1 A T 2: 26,839,352 (GRCm39) E339D probably benign Het
Tbc1d9 A G 8: 83,960,872 (GRCm39) T241A probably damaging Het
Ticrr A T 7: 79,327,158 (GRCm39) D622V probably damaging Het
Tie1 A G 4: 118,333,477 (GRCm39) probably benign Het
Trak1 G C 9: 121,301,973 (GRCm39) V910L probably damaging Het
Trmt1l T C 1: 151,324,131 (GRCm39) V326A probably benign Het
Tshr A G 12: 91,472,057 (GRCm39) T136A probably damaging Het
Ube3c A G 5: 29,803,936 (GRCm39) T180A possibly damaging Het
Unc13a A C 8: 72,087,302 (GRCm39) F1482V probably damaging Het
Unc79 A G 12: 103,025,777 (GRCm39) E388G probably damaging Het
Ush2a A T 1: 188,697,043 (GRCm39) D5167V probably damaging Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Wdfy4 G A 14: 32,884,708 (GRCm39) R65C probably null Het
Zcchc9 T C 13: 91,945,368 (GRCm39) I72V probably benign Het
Zfc3h1 G T 10: 115,259,379 (GRCm39) L1650F possibly damaging Het
Zzz3 A G 3: 152,134,040 (GRCm39) D366G 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
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
R9186:Scamp1 UTSW 13 94,344,682 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- AACTGCTTCCAGGCTCGCTACATC -3'
(R):5'- TAACCTGGTCTGCTTCGACCGAAC -3'

Sequencing Primer
(F):5'- ACATCTGGTTACCCTTGAAGGC -3'
(R):5'- TTCGACCGAACAGGGCAG -3'
Posted On 2014-03-10