Incidental Mutation 'R8849:Scamp4'
ID 674888
Institutional Source Beutler Lab
Gene Symbol Scamp4
Ensembl Gene ENSMUSG00000113949
Gene Name secretory carrier membrane protein 4
Synonyms Sc4, 2410022D05Rik
MMRRC Submission 068672-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R8849 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80438716-80451617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80445266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 37 (V37E)
Ref Sequence ENSEMBL: ENSMUSP00000078808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038411] [ENSMUST00000079883] [ENSMUST00000178231] [ENSMUST00000180350] [ENSMUST00000218067] [ENSMUST00000220669] [ENSMUST00000221032] [ENSMUST00000221387] [ENSMUST00000221670] [ENSMUST00000221960] [ENSMUST00000223256]
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: V37E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078808
Gene: ENSMUSG00000113949
AA Change: V37E

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: V37E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137003
Gene: ENSMUSG00000113949
AA Change: V37E

DomainStartEndE-ValueType
Pfam:SCAMP 5 179 1.2e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218067
Predicted Effect probably damaging
Transcript: ENSMUST00000220669
AA Change: V37E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000221032
AA Change: V37E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000221387
Predicted Effect probably benign
Transcript: ENSMUST00000221670
Predicted Effect probably benign
Transcript: ENSMUST00000221960
Predicted Effect probably benign
Transcript: ENSMUST00000223256
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (52/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik G A 16: 14,439,376 (GRCm39) probably null Het
Adgrv1 T C 13: 81,669,324 (GRCm39) T2411A probably benign Het
Aldh5a1 T A 13: 25,121,464 (GRCm39) T30S probably benign Het
Alg1 G A 16: 5,051,532 (GRCm39) A7T possibly damaging Het
Ano10 T A 9: 122,090,510 (GRCm39) M268L probably benign Het
Avil T C 10: 126,844,661 (GRCm39) V264A possibly damaging Het
Bicc1 T A 10: 70,782,694 (GRCm39) I558F probably benign Het
Bst1 A T 5: 43,977,927 (GRCm39) H92L possibly damaging Het
C1s2 T C 6: 124,602,754 (GRCm39) N486D probably benign Het
Carmil3 A T 14: 55,734,627 (GRCm39) H452L probably benign Het
Ccser1 T A 6: 61,288,537 (GRCm39) D233E probably benign Het
Ceacam18 G T 7: 43,294,967 (GRCm39) L342F probably benign Het
Cep95 T A 11: 106,707,630 (GRCm39) M691K Het
Cfap221 G A 1: 119,922,874 (GRCm39) P23S probably damaging Het
Ciao2b C T 8: 105,367,599 (GRCm39) probably null Het
Col20a1 T C 2: 180,640,432 (GRCm39) Y572H probably damaging Het
Cr2 C T 1: 194,839,547 (GRCm39) V627M probably damaging Het
Cul2 T A 18: 3,423,551 (GRCm39) H320Q probably benign Het
Ddx5 A T 11: 106,675,975 (GRCm39) V266E probably damaging Het
Dgkd T C 1: 87,846,365 (GRCm39) V336A probably damaging Het
Dnah6 T C 6: 73,121,156 (GRCm39) probably null Het
Dnhd1 C A 7: 105,370,723 (GRCm39) Q4668K probably benign Het
Dock7 C T 4: 98,904,986 (GRCm39) E630K Het
Dolk T C 2: 30,174,935 (GRCm39) E370G probably damaging Het
Ercc6 T A 14: 32,291,565 (GRCm39) L1003Q probably damaging Het
Foxc1 T C 13: 31,992,817 (GRCm39) S543P unknown Het
Gbp2b A C 3: 142,313,913 (GRCm39) M398L probably benign Het
Gigyf2 G T 1: 87,361,592 (GRCm39) R908L unknown Het
Gpr176 T A 2: 118,110,095 (GRCm39) E388V probably damaging Het
Gpx8 C T 13: 113,179,704 (GRCm39) G199E probably benign Het
Gtf2a1l A G 17: 89,001,566 (GRCm39) T141A possibly damaging Het
Ifi208 G A 1: 173,506,184 (GRCm39) probably benign Het
Itgad T A 7: 127,789,157 (GRCm39) probably benign Het
Kif20b C T 19: 34,915,716 (GRCm39) Q498* probably null Het
Lmo7 T C 14: 102,163,543 (GRCm39) Y1463H unknown Het
Mms19 A T 19: 41,952,767 (GRCm39) L114Q probably damaging Het
Mogs T C 6: 83,094,986 (GRCm39) V601A possibly damaging Het
Mybpc1 T A 10: 88,407,447 (GRCm39) M87L probably benign Het
Nhlrc2 T C 19: 56,580,184 (GRCm39) V439A possibly damaging Het
Npc1l1 T A 11: 6,179,038 (GRCm39) H124L probably damaging Het
Opn4 A G 14: 34,318,986 (GRCm39) W200R probably damaging Het
Or2b2b T C 13: 21,858,226 (GRCm39) E296G possibly damaging Het
Pax2 T C 19: 44,749,111 (GRCm39) probably benign Het
Phf20 G T 2: 156,118,440 (GRCm39) Q381H probably damaging Het
Pramel25 A G 4: 143,521,596 (GRCm39) N404S probably damaging Het
Pramel32 T A 4: 88,546,014 (GRCm39) T443S probably benign Het
Pramel34 A T 5: 93,784,197 (GRCm39) H422Q probably benign Het
Rb1 C T 14: 73,434,709 (GRCm39) R903Q probably damaging Het
Sema3e T C 5: 14,302,673 (GRCm39) W733R probably damaging Het
Sertm1 A G 3: 54,806,749 (GRCm39) V92A possibly damaging Het
Slc4a5 T C 6: 83,250,180 (GRCm39) F638L probably damaging Het
Tprn T C 2: 25,159,171 (GRCm39) S703P probably damaging Het
Tulp4 T A 17: 6,272,656 (GRCm39) M570K probably benign Het
Zfp433 T C 10: 81,556,875 (GRCm39) I459T probably benign Het
Zfp697 A G 3: 98,334,943 (GRCm39) E236G probably benign 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
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
R9401:Scamp4 UTSW 10 80,448,238 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- ATGCAATGCTGGTGTGTGAC -3'
(R):5'- CCCAGAGTGGCACAGTAAAC -3'

Sequencing Primer
(F):5'- TGTGACTCTGGCTGCAGC -3'
(R):5'- CAGAGTGGCACAGTAAACTGGAAG -3'
Posted On 2021-07-15