Incidental Mutation 'R7242:Scamp1'
ID 563306
Institutional Source Beutler Lab
Gene Symbol Scamp1
Ensembl Gene ENSMUSG00000021687
Gene Name secretory carrier membrane protein 1
Synonyms 4930505M11Rik
MMRRC Submission 045349-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7242 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 94337818-94422339 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 94369648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 59 (T59I)
Ref Sequence ENSEMBL: ENSMUSP00000022197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022197] [ENSMUST00000138255] [ENSMUST00000152555] [ENSMUST00000153558]
AlphaFold Q8K021
Predicted Effect probably benign
Transcript: ENSMUST00000022197
AA Change: T59I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022197
Gene: ENSMUSG00000021687
AA Change: T59I

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
AA Change: T7I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121039
Gene: ENSMUSG00000021687
AA Change: T7I

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: T7I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123135
Gene: ENSMUSG00000021687
AA Change: T7I

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 benign
Transcript: ENSMUST00000153558
AA Change: T7I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000120053
Gene: ENSMUSG00000021687
AA Change: T7I

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (73/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Abca6 A T 11: 110,132,479 (GRCm39) V272D possibly damaging Het
Acot11 A T 4: 106,619,690 (GRCm39) S163R probably benign Het
Adcy5 T C 16: 34,977,205 (GRCm39) L246P probably damaging Het
Adgra1 A T 7: 139,427,573 (GRCm39) probably null Het
Adgra2 A G 8: 27,612,055 (GRCm39) T1335A probably damaging Het
Aoc1l2 A T 6: 48,908,062 (GRCm39) Y354F probably damaging Het
Armt1 T C 10: 4,403,475 (GRCm39) S187P probably damaging Het
Azin1 T C 15: 38,501,749 (GRCm39) M1V probably null Het
B430305J03Rik C T 3: 61,271,256 (GRCm39) C163Y unknown Het
Cables1 T C 18: 11,973,064 (GRCm39) S68P possibly damaging Het
Cacna1d A G 14: 29,900,663 (GRCm39) F341L probably benign Het
Ccdc90b T A 7: 92,221,776 (GRCm39) H118Q probably damaging Het
Ccn5 T C 2: 163,670,772 (GRCm39) F93S probably benign Het
Celf1 T A 2: 90,833,602 (GRCm39) C119* probably null Het
Cfap57 C T 4: 118,450,293 (GRCm39) V610M possibly damaging Het
Chrm4 T A 2: 91,757,595 (GRCm39) M1K probably null Het
Chrnd C T 1: 87,125,201 (GRCm39) T418I probably damaging Het
Coch G T 12: 51,640,344 (GRCm39) probably benign Het
Cop1 A G 1: 159,112,118 (GRCm39) T345A probably benign Het
Cops6 A G 5: 138,161,842 (GRCm39) T96A probably benign Het
Corin T C 5: 72,462,398 (GRCm39) I945V probably benign Het
Cyp2c67 G T 19: 39,605,783 (GRCm39) T371N probably benign Het
Dap T A 15: 31,273,454 (GRCm39) *103R probably null Het
Defb35 T A 8: 22,430,773 (GRCm39) V49E unknown Het
Dmtf1 T A 5: 9,199,016 (GRCm39) D39V possibly damaging Het
Dmtn T C 14: 70,855,460 (GRCm39) T10A probably damaging Het
Dnajc1 C T 2: 18,298,783 (GRCm39) E264K probably benign Het
Dtx3l A T 16: 35,753,771 (GRCm39) N278K possibly damaging Het
Fam161a T A 11: 22,970,037 (GRCm39) S72T possibly damaging Het
Fnbp4 T A 2: 90,576,140 (GRCm39) S114T unknown Het
Focad T G 4: 88,228,143 (GRCm39) I784S unknown Het
Fzd8 A T 18: 9,214,171 (GRCm39) T418S probably damaging Het
Gclc A G 9: 77,692,653 (GRCm39) Y264C probably benign Het
Ggn G A 7: 28,872,459 (GRCm39) C649Y possibly damaging Het
Gys1 A G 7: 45,089,092 (GRCm39) probably null Het
Hsd3b1 T C 3: 98,760,526 (GRCm39) Y155C probably damaging Het
Htatip2 A G 7: 49,422,354 (GRCm39) K191E probably benign Het
Ik A T 18: 36,881,275 (GRCm39) S79C probably null Het
Kin G A 2: 10,096,604 (GRCm39) R151Q probably benign Het
Kpna2rt G A 17: 90,217,563 (GRCm39) T61I probably benign Het
Mast4 A G 13: 102,874,986 (GRCm39) S1461P probably damaging Het
Melk T A 4: 44,360,885 (GRCm39) V555E probably damaging Het
Met G A 6: 17,491,316 (GRCm39) C26Y probably damaging Het
Mfsd6 A T 1: 52,748,633 (GRCm39) F77L probably damaging Het
Mib1 T A 18: 10,741,011 (GRCm39) D86E probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or12e8 G A 2: 87,188,426 (GRCm39) V213I probably benign Het
Or56b1b T G 7: 108,164,919 (GRCm39) S28R probably benign Het
Or7a36 A T 10: 78,820,331 (GRCm39) K236* probably null Het
Or8g21 A G 9: 38,906,437 (GRCm39) I98T probably benign Het
Patj A T 4: 98,480,170 (GRCm39) I1296L probably benign Het
Pcdh1 C T 18: 38,336,270 (GRCm39) V122M probably benign Het
Pcdhac2 A T 18: 37,277,946 (GRCm39) I309F possibly damaging Het
Phf8-ps A G 17: 33,286,101 (GRCm39) Y234H probably damaging Het
Phtf1 A G 3: 103,906,012 (GRCm39) S565G probably damaging Het
Plekha2 A C 8: 25,578,411 (GRCm39) F30V probably damaging Het
Ptbp1 A G 10: 79,692,222 (GRCm39) M20V unknown Het
Pth2r A G 1: 65,427,779 (GRCm39) D484G probably benign Het
Rapgef2 G A 3: 78,995,210 (GRCm39) Q665* probably null Het
Sema4a T A 3: 88,357,416 (GRCm39) D230V probably damaging Het
Snw1 C T 12: 87,515,415 (GRCm39) G45R possibly damaging Het
Sox30 T A 11: 45,875,347 (GRCm39) probably null Het
Sspo T A 6: 48,450,886 (GRCm39) I2665K probably benign Het
Stx5a T A 19: 8,732,641 (GRCm39) W437R unknown Het
Tln1 A G 4: 43,542,602 (GRCm39) V1402A probably benign Het
Tpm1 A G 9: 66,935,383 (GRCm39) L244P probably benign Het
Try5 T A 6: 41,290,388 (GRCm39) E32V probably benign Het
Ttn T C 2: 76,552,073 (GRCm39) N31188S probably benign Het
Tulp1 T C 17: 28,582,379 (GRCm39) probably null Het
Usp13 T G 3: 32,919,892 (GRCm39) probably null Het
Vax2 A G 6: 83,688,298 (GRCm39) E7G possibly damaging Het
Vmn2r45 A T 7: 8,488,612 (GRCm39) Y139* probably null Het
Zfp423 T C 8: 88,631,155 (GRCm39) D21G 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
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'- GTGTCGTTACTGTAGAGCATTATCC -3'
(R):5'- TTTACATGGGGTACTGCTCAGC -3'

Sequencing Primer
(F):5'- GTAGAGCATTATCCATTGGCACC -3'
(R):5'- CTCAGCGTTGTAAAACTGAGACTCG -3'
Posted On 2019-06-26