Incidental Mutation 'IGL01063:Scamp3'
ID 50684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scamp3
Ensembl Gene ENSMUSG00000028049
Gene Name secretory carrier membrane protein 3
Synonyms Sc3
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # IGL01063
Quality Score
Status
Chromosome 3
Chromosomal Location 89084780-89090072 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 89084973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029684] [ENSMUST00000090927] [ENSMUST00000098941] [ENSMUST00000120697] [ENSMUST00000121212] [ENSMUST00000121931] [ENSMUST00000128318] [ENSMUST00000148265]
AlphaFold O35609
Predicted Effect probably benign
Transcript: ENSMUST00000029684
SMART Domains Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049

DomainStartEndE-ValueType
low complexity region 49 69 N/A INTRINSIC
coiled coil region 89 127 N/A INTRINSIC
Pfam:SCAMP 133 310 1.5e-76 PFAM
low complexity region 329 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090927
SMART Domains Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917

DomainStartEndE-ValueType
low complexity region 24 50 N/A INTRINSIC
low complexity region 54 72 N/A INTRINSIC
low complexity region 105 137 N/A INTRINSIC
S_TKc 161 477 1.46e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000098941
SMART Domains Protein: ENSMUSP00000096540
Gene: ENSMUSG00000028049

DomainStartEndE-ValueType
low complexity region 49 69 N/A INTRINSIC
coiled coil region 89 127 N/A INTRINSIC
Pfam:SCAMP 133 229 5.5e-46 PFAM
Pfam:SCAMP 227 276 2.2e-11 PFAM
low complexity region 295 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120697
SMART Domains Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049

DomainStartEndE-ValueType
low complexity region 50 70 N/A INTRINSIC
coiled coil region 90 128 N/A INTRINSIC
Pfam:SCAMP 135 310 1.1e-67 PFAM
low complexity region 330 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121212
SMART Domains Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917

DomainStartEndE-ValueType
low complexity region 24 50 N/A INTRINSIC
low complexity region 54 73 N/A INTRINSIC
low complexity region 106 138 N/A INTRINSIC
S_TKc 162 478 1.46e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121931
SMART Domains Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917

DomainStartEndE-ValueType
low complexity region 24 50 N/A INTRINSIC
low complexity region 54 73 N/A INTRINSIC
low complexity region 106 142 N/A INTRINSIC
S_TKc 163 479 1.46e-75 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139221
Predicted Effect probably benign
Transcript: ENSMUST00000128318
SMART Domains Protein: ENSMUSP00000115761
Gene: ENSMUSG00000068917

DomainStartEndE-ValueType
low complexity region 24 50 N/A INTRINSIC
low complexity region 54 73 N/A INTRINSIC
low complexity region 103 133 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148265
SMART Domains Protein: ENSMUSP00000122634
Gene: ENSMUSG00000068917

DomainStartEndE-ValueType
low complexity region 24 50 N/A INTRINSIC
low complexity region 54 73 N/A INTRINSIC
low complexity region 106 138 N/A INTRINSIC
Pfam:Pkinase 162 249 7.4e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
4930444P10Rik A T 1: 16,148,870 (GRCm39) L61* probably null Het
Abca7 T C 10: 79,847,131 (GRCm39) I1705T probably damaging Het
Ablim1 T A 19: 57,049,760 (GRCm39) I393F probably damaging Het
Adamts5 A G 16: 85,696,722 (GRCm39) L145P probably damaging Het
Ano6 T C 15: 95,846,310 (GRCm39) I537T probably damaging Het
AU018091 T C 7: 3,212,153 (GRCm39) I190V possibly damaging Het
Camk1 T A 6: 113,315,333 (GRCm39) D155V probably damaging Het
Cdh6 A C 15: 13,064,581 (GRCm39) I103S probably damaging Het
Cntnap1 A G 11: 101,072,614 (GRCm39) D537G probably benign Het
Col6a3 T C 1: 90,730,054 (GRCm39) K1144E probably damaging Het
Cpeb1 T A 7: 81,021,929 (GRCm39) E71D probably benign Het
Cps1 T C 1: 67,234,325 (GRCm39) L904P possibly damaging Het
Cyfip1 T A 7: 55,553,958 (GRCm39) F700I probably damaging Het
Dmp1 G A 5: 104,354,965 (GRCm39) M1I probably null Het
Efcab6 A T 15: 83,938,713 (GRCm39) M1K probably null Het
Extl2 A T 3: 115,821,131 (GRCm39) H312L possibly damaging Het
Fat4 C A 3: 38,944,728 (GRCm39) A1207D possibly damaging Het
Flnb T C 14: 7,926,518 (GRCm38) probably benign Het
Hdac10 G T 15: 89,008,071 (GRCm39) A593E possibly damaging Het
Hdhd2 T C 18: 77,052,969 (GRCm39) probably null Het
Kcnq2 A G 2: 180,751,582 (GRCm39) probably benign Het
Kdm7a A G 6: 39,142,064 (GRCm39) F405L probably damaging Het
Lypd6b C A 2: 49,833,642 (GRCm39) probably benign Het
Mki67 A T 7: 135,296,651 (GRCm39) D2794E possibly damaging Het
Mtmr14 T A 6: 113,243,287 (GRCm39) F40I probably damaging Het
Or2y3 G T 17: 38,393,544 (GRCm39) S108R possibly damaging Het
Or5p55 A T 7: 107,566,741 (GRCm39) I46F probably damaging Het
Or6d13 T A 6: 116,517,968 (GRCm39) C185S probably damaging Het
Or6x1 A T 9: 40,099,052 (GRCm39) I214F probably benign Het
Ppargc1a C A 5: 51,631,664 (GRCm39) V322L probably benign Het
Ppfibp1 T A 6: 146,931,195 (GRCm39) M917K probably benign Het
Prkg2 C T 5: 99,117,795 (GRCm39) probably null Het
Rfx4 A G 10: 84,704,246 (GRCm39) E296G possibly damaging Het
Rfx8 T A 1: 39,722,110 (GRCm39) K292* probably null Het
Scn4a A T 11: 106,221,190 (GRCm39) I823N possibly damaging Het
Sdk2 A G 11: 113,721,668 (GRCm39) V1316A probably damaging Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Stard8 G T X: 98,116,694 (GRCm39) R983L probably damaging Het
Tbc1d23 A T 16: 57,013,038 (GRCm39) D311E probably benign Het
Tex21 T C 12: 76,245,592 (GRCm39) H568R probably benign Het
Tex35 T C 1: 156,932,667 (GRCm39) probably benign Het
Tgs1 T A 4: 3,591,292 (GRCm39) F442I possibly damaging Het
Traf2 C A 2: 25,414,931 (GRCm39) C303F probably benign Het
Trim56 A T 5: 137,143,354 (GRCm39) V54D possibly damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfp668 A T 7: 127,465,454 (GRCm39) C577S probably damaging Het
Other mutations in Scamp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Scamp3 APN 3 89,086,441 (GRCm39) missense probably benign 0.01
IGL02269:Scamp3 APN 3 89,088,041 (GRCm39) missense probably benign 0.12
R0908:Scamp3 UTSW 3 89,086,746 (GRCm39) splice site probably null
R1160:Scamp3 UTSW 3 89,088,505 (GRCm39) missense probably damaging 1.00
R1899:Scamp3 UTSW 3 89,087,567 (GRCm39) missense probably damaging 1.00
R4237:Scamp3 UTSW 3 89,089,234 (GRCm39) splice site probably null
R4238:Scamp3 UTSW 3 89,089,234 (GRCm39) splice site probably null
R4373:Scamp3 UTSW 3 89,089,234 (GRCm39) splice site probably null
R4374:Scamp3 UTSW 3 89,089,234 (GRCm39) splice site probably null
R5013:Scamp3 UTSW 3 89,088,216 (GRCm39) unclassified probably benign
R5023:Scamp3 UTSW 3 89,089,600 (GRCm39) unclassified probably benign
R5057:Scamp3 UTSW 3 89,089,600 (GRCm39) unclassified probably benign
R5522:Scamp3 UTSW 3 89,084,929 (GRCm39) missense possibly damaging 0.90
R5762:Scamp3 UTSW 3 89,088,504 (GRCm39) missense probably damaging 1.00
R6788:Scamp3 UTSW 3 89,089,256 (GRCm39) missense probably benign 0.00
R7586:Scamp3 UTSW 3 89,087,673 (GRCm39) missense probably damaging 1.00
R7606:Scamp3 UTSW 3 89,088,525 (GRCm39) missense probably damaging 1.00
R7769:Scamp3 UTSW 3 89,085,298 (GRCm39) missense probably damaging 1.00
R8412:Scamp3 UTSW 3 89,088,525 (GRCm39) missense probably damaging 1.00
R9680:Scamp3 UTSW 3 89,087,561 (GRCm39) nonsense probably null
Posted On 2013-06-21