Incidental Mutation 'R0908:Scamp3'
ID 83383
Institutional Source Beutler Lab
Gene Symbol Scamp3
Ensembl Gene ENSMUSG00000028049
Gene Name secretory carrier membrane protein 3
Synonyms Sc3
MMRRC Submission 039066-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R0908 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89084780-89090072 bp(+) (GRCm39)
Type of Mutation splice site (2518 bp from exon)
DNA Base Change (assembly) T to C at 89086746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029684] [ENSMUST00000041913] [ENSMUST00000090927] [ENSMUST00000098941] [ENSMUST00000117278] [ENSMUST00000119707] [ENSMUST00000120697] [ENSMUST00000127982] [ENSMUST00000121931] [ENSMUST00000128318] [ENSMUST00000121212] [ENSMUST00000147696] [ENSMUST00000140473]
AlphaFold O35609
Predicted Effect probably null
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: ENSMUST00000041913
SMART Domains Protein: ENSMUSP00000039261
Gene: ENSMUSG00000032657

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 196 8e-36 PFAM
low complexity region 243 254 N/A INTRINSIC
low complexity region 390 408 N/A INTRINSIC
low complexity region 445 463 N/A INTRINSIC
low complexity region 471 490 N/A INTRINSIC
low complexity region 628 649 N/A INTRINSIC
Predicted Effect probably null
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 null
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: ENSMUST00000117278
SMART Domains Protein: ENSMUSP00000113706
Gene: ENSMUSG00000032657

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
transmembrane domain 34 56 N/A INTRINSIC
Pfam:CD20 74 177 7.3e-13 PFAM
low complexity region 224 235 N/A INTRINSIC
low complexity region 371 389 N/A INTRINSIC
low complexity region 426 444 N/A INTRINSIC
low complexity region 452 471 N/A INTRINSIC
low complexity region 609 630 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119707
SMART Domains Protein: ENSMUSP00000113579
Gene: ENSMUSG00000032657

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 196 1.9e-18 PFAM
low complexity region 312 330 N/A INTRINSIC
low complexity region 367 385 N/A INTRINSIC
low complexity region 393 412 N/A INTRINSIC
low complexity region 550 571 N/A INTRINSIC
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000129294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136165
Predicted Effect probably benign
Transcript: ENSMUST00000127982
SMART Domains Protein: ENSMUSP00000114855
Gene: ENSMUSG00000032657

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 77 6.7e-9 PFAM
Predicted Effect probably null
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 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 null
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 noncoding transcript
Transcript: ENSMUST00000148881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153255
Predicted Effect probably benign
Transcript: ENSMUST00000147696
SMART Domains Protein: ENSMUSP00000117185
Gene: ENSMUSG00000032657

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 196 1.9e-30 PFAM
low complexity region 242 253 N/A INTRINSIC
low complexity region 324 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140473
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.1%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,775,838 (GRCm39) F1676I probably damaging Het
Afg2a T A 3: 37,485,772 (GRCm39) probably null Het
Atp8a2 T C 14: 60,097,719 (GRCm39) K770E probably benign Het
Atp8b3 T C 10: 80,355,918 (GRCm39) T1265A probably benign Het
Cep112 T C 11: 108,555,323 (GRCm39) V679A possibly damaging Het
Cts8 A T 13: 61,398,730 (GRCm39) Y259N probably damaging Het
Depdc7 A G 2: 104,558,437 (GRCm39) S195P probably benign Het
Dio2 A T 12: 90,696,422 (GRCm39) C189S probably damaging Het
Dmc1 A G 15: 79,469,890 (GRCm39) L189P probably damaging Het
Ehmt1 A G 2: 24,694,900 (GRCm39) Y1016H probably damaging Het
Gle1 T C 2: 29,826,133 (GRCm39) S71P probably benign Het
Gykl1 T A 18: 52,828,441 (GRCm39) *550K probably null Het
Klhl32 T C 4: 24,682,092 (GRCm39) D197G probably damaging Het
Krt78 G A 15: 101,859,336 (GRCm39) T287M probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Mrpl1 A T 5: 96,409,942 (GRCm39) I272L probably benign Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Naip2 C T 13: 100,298,368 (GRCm39) G556D probably benign Het
Or52e19 T C 7: 102,959,780 (GRCm39) V284A possibly damaging Het
Or8g23 T C 9: 38,971,243 (GRCm39) T240A probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Pde5a A T 3: 122,572,650 (GRCm39) I344L probably benign Het
Prl7c1 A G 13: 27,957,717 (GRCm39) I241T possibly damaging Het
Rp1 T C 1: 4,414,878 (GRCm39) E2078G probably benign Het
Septin8 A G 11: 53,428,697 (GRCm39) H414R probably benign Het
Spef2 T A 15: 9,614,281 (GRCm39) probably null Het
Txlnb A G 10: 17,674,925 (GRCm39) N26S probably damaging Het
Vmn1r11 G T 6: 57,115,049 (GRCm39) V201L probably damaging Het
Other mutations in Scamp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Scamp3 APN 3 89,084,973 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CTACAGCACCCAGGTAAAGAGTGTG -3'
(R):5'- TGCCCAGGTTGATTTTATTCAGCCC -3'

Sequencing Primer
(F):5'- CCCAGGTAAAGAGTGTGTGTGG -3'
(R):5'- ggctacagagaaggctcag -3'
Posted On 2013-11-08