Incidental Mutation 'R0846:Scamp4'
ID 77375
Institutional Source Beutler Lab
Gene Symbol Scamp4
Ensembl Gene ENSMUSG00000113949
Gene Name secretory carrier membrane protein 4
Synonyms Sc4, 2410022D05Rik
MMRRC Submission 039025-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R0846 (G1)
Quality Score 205
Status Not validated
Chromosome 10
Chromosomal Location 80438716-80451617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80450537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 205 (F205L)
Ref Sequence ENSEMBL: ENSMUSP00000137003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079883] [ENSMUST00000178231] [ENSMUST00000180350] [ENSMUST00000218067] [ENSMUST00000220669] [ENSMUST00000221387] [ENSMUST00000223256]
AlphaFold Q9JKV5
Predicted Effect probably benign
Transcript: ENSMUST00000079883
AA Change: F205L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078808
Gene: ENSMUSG00000113949
AA Change: F205L

DomainStartEndE-ValueType
Pfam:SCAMP 4 180 4.7e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178231
SMART Domains Protein: ENSMUSP00000136259
Gene: ENSMUSG00000035370

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 170 308 1.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180350
AA Change: F205L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000137003
Gene: ENSMUSG00000113949
AA Change: F205L

DomainStartEndE-ValueType
Pfam:SCAMP 5 179 1.2e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219462
Predicted Effect probably benign
Transcript: ENSMUST00000220669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221236
Predicted Effect probably benign
Transcript: ENSMUST00000221387
Predicted Effect probably benign
Transcript: ENSMUST00000223256
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.2%
  • 20x: 90.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,071 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,627,861 (GRCm39) R3667* probably null Het
Adh5 T G 3: 138,156,835 (GRCm39) C174G probably damaging Het
Cap1 A C 4: 122,756,692 (GRCm39) probably null Het
Caps2 G A 10: 112,051,490 (GRCm39) R587H probably damaging Het
Ccn1 T A 3: 145,353,525 (GRCm39) M346L possibly damaging Het
Cdo1 A G 18: 46,848,812 (GRCm39) V142A probably damaging Het
Chuk T C 19: 44,079,467 (GRCm39) T345A probably damaging Het
Cobll1 T C 2: 64,932,409 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cop1 T C 1: 159,147,386 (GRCm39) Y571H probably benign Het
Cstpp1 T A 2: 91,214,182 (GRCm39) T58S probably damaging Het
Dcc A G 18: 71,959,283 (GRCm39) V163A probably benign Het
Dnah11 G T 12: 117,897,585 (GRCm39) N3548K probably damaging Het
Ehhadh G T 16: 21,592,247 (GRCm39) S152* probably null Het
Fitm2 T C 2: 163,311,734 (GRCm39) T160A probably benign Het
Fos C T 12: 85,522,457 (GRCm39) T162I probably damaging Het
Fsd2 T C 7: 81,190,145 (GRCm39) I546V probably benign Het
Gal3st2c T C 1: 93,934,669 (GRCm39) V19A possibly damaging Het
Gorasp2 T A 2: 70,521,298 (GRCm39) S443T probably benign Het
Klf4 G A 4: 55,530,191 (GRCm39) H307Y probably damaging Het
Ldc1 A C 4: 130,115,417 (GRCm39) S44A probably benign Het
Mark3 A G 12: 111,593,658 (GRCm39) D230G possibly damaging Het
Mnat1 T G 12: 73,170,706 (GRCm39) probably null Het
Or5m9b T C 2: 85,905,510 (GRCm39) L142P possibly damaging Het
Otogl T G 10: 107,608,157 (GRCm39) T2073P probably benign Het
Pdxdc1 A C 16: 13,672,257 (GRCm39) probably null Het
Pkhd1l1 T C 15: 44,358,993 (GRCm39) S401P probably damaging Het
Polr1a T C 6: 71,901,627 (GRCm39) Y262H probably damaging Het
Pramel19 A T 4: 101,798,447 (GRCm39) K139N probably benign Het
Scn1a C T 2: 66,155,099 (GRCm39) S620N probably benign Het
Scn7a C T 2: 66,527,944 (GRCm39) D849N possibly damaging Het
Slc17a8 T C 10: 89,442,596 (GRCm39) D79G possibly damaging Het
Sync A G 4: 129,187,897 (GRCm39) S310G probably benign Het
Tbc1d9b A C 11: 50,062,148 (GRCm39) I1219L probably benign Het
Vmn1r47 T A 6: 89,999,657 (GRCm39) M263K probably benign Het
Zfp773 A T 7: 7,135,691 (GRCm39) C302S probably damaging Het
Other mutations in Scamp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Scamp4 APN 10 80,445,256 (GRCm39) missense probably damaging 0.99
ANU23:Scamp4 UTSW 10 80,445,256 (GRCm39) missense probably damaging 0.99
R4526:Scamp4 UTSW 10 80,446,891 (GRCm39) missense probably damaging 1.00
R4910:Scamp4 UTSW 10 80,445,505 (GRCm39) missense probably damaging 0.97
R5941:Scamp4 UTSW 10 80,448,255 (GRCm39) missense probably benign 0.00
R8849:Scamp4 UTSW 10 80,445,266 (GRCm39) missense probably damaging 1.00
R9401:Scamp4 UTSW 10 80,448,238 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- GGCACATGCCTGCTTGTTGAATTG -3'
(R):5'- TGAGAGATGCTCAGACCTCAGGAC -3'

Sequencing Primer
(F):5'- ATTTGGCACCAGGTCCTGC -3'
(R):5'- TCAGGACCGAGGGTGGTAAC -3'
Posted On 2013-10-16