Incidental Mutation 'IGL01306:Scamp4'
ID 73460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scamp4
Ensembl Gene ENSMUSG00000113949
Gene Name secretory carrier membrane protein 4
Synonyms Sc4, 2410022D05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL01306
Quality Score
Status
Chromosome 10
Chromosomal Location 80438716-80451617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80445256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 34 (Q34K)
Ref Sequence ENSEMBL: ENSMUSP00000137003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038411] [ENSMUST00000079883] [ENSMUST00000178231] [ENSMUST00000180350] [ENSMUST00000218067] [ENSMUST00000220669] [ENSMUST00000221032] [ENSMUST00000223256] [ENSMUST00000221387] [ENSMUST00000221960] [ENSMUST00000221670]
AlphaFold Q9JKV5
Predicted Effect probably benign
Transcript: ENSMUST00000038411
SMART Domains Protein: ENSMUSP00000040551
Gene: ENSMUSG00000113640

DomainStartEndE-ValueType
Pfam:dCMP_cyt_deam_1 170 308 5.7e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079883
AA Change: Q34K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078808
Gene: ENSMUSG00000113949
AA Change: Q34K

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 damaging
Transcript: ENSMUST00000180350
AA Change: Q34K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137003
Gene: ENSMUSG00000113949
AA Change: Q34K

DomainStartEndE-ValueType
Pfam:SCAMP 5 179 1.2e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184456
Predicted Effect probably benign
Transcript: ENSMUST00000218067
Predicted Effect probably benign
Transcript: ENSMUST00000220669
AA Change: Q34K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000221032
AA Change: Q34K

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect unknown
Transcript: ENSMUST00000223256
AA Change: Q34K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219462
Predicted Effect probably benign
Transcript: ENSMUST00000221387
Predicted Effect probably benign
Transcript: ENSMUST00000221960
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221236
Predicted Effect probably benign
Transcript: ENSMUST00000221670
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Ago4 T C 4: 126,409,677 (GRCm39) probably null Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Bltp1 T C 3: 37,059,162 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fbxw8 C T 5: 118,251,785 (GRCm39) V243M possibly damaging Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R probably benign Het
Other mutations in Scamp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
ANU23:Scamp4 UTSW 10 80,445,256 (GRCm39) missense probably damaging 0.99
R0846:Scamp4 UTSW 10 80,450,537 (GRCm39) missense probably benign 0.10
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
Posted On 2013-10-07