Incidental Mutation 'IGL02691:Scamp5'
ID303734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scamp5
Ensembl Gene ENSMUSG00000040722
Gene Namesecretory carrier membrane protein 5
SynonymsSc5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02691
Quality Score
Status
Chromosome9
Chromosomal Location57441327-57468060 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 57451377 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 39 (R39S)
Ref Sequence ENSEMBL: ENSMUSP00000150867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046587] [ENSMUST00000213771] [ENSMUST00000214256] [ENSMUST00000215059] [ENSMUST00000215734]
Predicted Effect probably damaging
Transcript: ENSMUST00000046587
AA Change: R39S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035898
Gene: ENSMUSG00000040722
AA Change: R39S

DomainStartEndE-ValueType
Pfam:SCAMP 5 179 2.1e-69 PFAM
low complexity region 201 218 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000213771
AA Change: R39S

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably damaging
Transcript: ENSMUST00000214256
AA Change: R39S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect unknown
Transcript: ENSMUST00000215059
AA Change: A38E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215208
Predicted Effect probably damaging
Transcript: ENSMUST00000215734
AA Change: R39S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Scamp (secretory carrier membrane protein) family. The encoded protein may be involved in neuronal vesicle trafficking. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,761,664 S40P probably benign Het
Actl9 G T 17: 33,433,118 V51L probably damaging Het
Adcy6 A T 15: 98,604,304 F143Y probably damaging Het
Agps A T 2: 75,891,860 I465F probably benign Het
Armc3 T A 2: 19,235,484 F17L probably damaging Het
Arsk A C 13: 76,074,950 M176R probably damaging Het
Asz1 G A 6: 18,076,557 T212I probably damaging Het
Atp6v1a A G 16: 44,111,619 I102T probably damaging Het
Bpifb6 T A 2: 153,902,645 L2Q unknown Het
Cad A G 5: 31,055,294 Y45C probably damaging Het
Ccdc93 A G 1: 121,486,613 D451G possibly damaging Het
Cenpj A G 14: 56,552,090 I834T probably benign Het
Cyp2j12 C T 4: 96,132,994 probably null Het
Dhx8 G A 11: 101,752,004 probably benign Het
Dync1i1 A G 6: 5,800,767 probably benign Het
Ell2 T A 13: 75,756,486 D99E probably damaging Het
Enpp1 G T 10: 24,711,892 P34T probably damaging Het
Fras1 T A 5: 96,744,705 V2888E possibly damaging Het
Gm10451 T C 12: 76,451,299 noncoding transcript Het
Gmfg A G 7: 28,444,870 Y40C probably damaging Het
Gnal T C 18: 67,222,675 I369T probably damaging Het
Gzmn T C 14: 56,166,913 T156A probably benign Het
H2-DMb2 A T 17: 34,147,858 H88L probably benign Het
Ighv7-3 T C 12: 114,153,396 T49A probably benign Het
Jakmip3 C T 7: 139,026,844 Q450* probably null Het
Klhl20 A T 1: 161,106,874 probably benign Het
Klk6 A G 7: 43,828,500 T99A probably benign Het
Lhx3 A G 2: 26,203,085 C118R probably damaging Het
Mapkbp1 T C 2: 119,973,174 probably benign Het
Naa15 A G 3: 51,451,326 E294G probably damaging Het
Nfia C T 4: 98,081,808 Q373* probably null Het
Notch2 C A 3: 98,135,607 Y1429* probably null Het
Oc90 A G 15: 65,882,561 S252P probably damaging Het
Olfr1084 T C 2: 86,638,838 Y290C probably damaging Het
Olfr681 A G 7: 105,122,131 I225V probably damaging Het
Pde3b T A 7: 114,508,085 probably benign Het
Pdss1 G A 2: 22,915,241 V211I probably benign Het
Phactr1 G T 13: 43,077,737 M226I probably benign Het
Phf11c A G 14: 59,384,787 S259P probably damaging Het
Phf20l1 A G 15: 66,604,864 N269S probably damaging Het
Piezo1 A G 8: 122,501,949 V229A possibly damaging Het
Plcb2 T C 2: 118,710,963 K997R probably benign Het
Ppm1m A T 9: 106,195,369 V449E probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rgs14 A G 13: 55,379,023 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc5a6 C T 5: 31,042,174 V15I probably damaging Het
Snx25 A T 8: 46,105,265 V235E possibly damaging Het
Tdrd1 G T 19: 56,843,852 E400D probably damaging Het
Tln1 T C 4: 43,539,544 R1593G probably benign Het
Trdv2-2 T C 14: 53,961,582 F110L possibly damaging Het
Ush2a A C 1: 188,734,752 Y2871S probably damaging Het
Vars2 A C 17: 35,660,248 L592R probably damaging Het
Vipr2 T A 12: 116,136,229 C239S probably benign Het
Vmn1r200 A T 13: 22,395,258 D68V probably damaging Het
Vmn1r7 A T 6: 57,024,388 S296T probably benign Het
Vmn2r95 T C 17: 18,451,858 I619T probably benign Het
Other mutations in Scamp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1636:Scamp5 UTSW 9 57451409 missense possibly damaging 0.80
R2119:Scamp5 UTSW 9 57447225 missense possibly damaging 0.61
R2120:Scamp5 UTSW 9 57447225 missense possibly damaging 0.61
R2124:Scamp5 UTSW 9 57447225 missense possibly damaging 0.61
R2280:Scamp5 UTSW 9 57445439 missense probably benign 0.18
R2906:Scamp5 UTSW 9 57443863 missense probably damaging 1.00
R4766:Scamp5 UTSW 9 57452036 critical splice acceptor site probably null
R4911:Scamp5 UTSW 9 57451452 missense probably damaging 1.00
R5414:Scamp5 UTSW 9 57447224 missense probably benign
R5698:Scamp5 UTSW 9 57445433 missense possibly damaging 0.72
R5783:Scamp5 UTSW 9 57446070 critical splice donor site probably null
R6520:Scamp5 UTSW 9 57447206 unclassified probably null
R7234:Scamp5 UTSW 9 57447140 missense probably damaging 1.00
Posted On2015-04-16