Incidental Mutation 'R4238:Scamp3'
ID |
321200 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scamp3
|
Ensembl Gene |
ENSMUSG00000028049 |
Gene Name |
secretory carrier membrane protein 3 |
Synonyms |
Sc3 |
MMRRC Submission |
041055-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.915)
|
Stock # |
R4238 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
89084780-89090072 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 89089234 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000041913]
[ENSMUST00000098941]
[ENSMUST00000117278]
[ENSMUST00000119707]
[ENSMUST00000120697]
[ENSMUST00000127982]
[ENSMUST00000147696]
[ENSMUST00000140473]
|
AlphaFold |
O35609 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029684
AA Change: G263S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029684 Gene: ENSMUSG00000028049 AA Change: G263S
Domain | Start | End | E-Value | Type |
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 null
Transcript: ENSMUST00000041913
|
SMART Domains |
Protein: ENSMUSP00000039261 Gene: ENSMUSG00000032657
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000098941
AA Change: G229S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096540 Gene: ENSMUSG00000028049 AA Change: G229S
Domain | Start | End | E-Value | Type |
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 null
Transcript: ENSMUST00000117278
|
SMART Domains |
Protein: ENSMUSP00000113706 Gene: ENSMUSG00000032657
Domain | Start | End | E-Value | Type |
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 null
Transcript: ENSMUST00000119707
|
SMART Domains |
Protein: ENSMUSP00000113579 Gene: ENSMUSG00000032657
Domain | Start | End | E-Value | Type |
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 damaging
Transcript: ENSMUST00000120697
AA Change: G264S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112846 Gene: ENSMUSG00000028049 AA Change: G264S
Domain | Start | End | E-Value | Type |
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: ENSMUST00000124291
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131146
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148881
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136165
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129294
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127982
|
SMART Domains |
Protein: ENSMUSP00000114855 Gene: ENSMUSG00000032657
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:CD20
|
36 |
77 |
6.7e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147696
|
SMART Domains |
Protein: ENSMUSP00000117185 Gene: ENSMUSG00000032657
Domain | Start | End | E-Value | Type |
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 null
Transcript: ENSMUST00000140473
|
Meta Mutation Damage Score |
0.9097 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
100% (42/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
Aar2 |
A |
G |
2: 156,393,064 (GRCm39) |
E151G |
possibly damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,217,669 (GRCm39) |
D125G |
probably null |
Het |
Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
Cers3 |
T |
C |
7: 66,423,424 (GRCm39) |
F87S |
probably damaging |
Het |
Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
Cndp1 |
G |
T |
18: 84,636,342 (GRCm39) |
H391N |
probably benign |
Het |
Cpz |
T |
C |
5: 35,659,818 (GRCm39) |
D609G |
probably benign |
Het |
Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
Fam186a |
T |
C |
15: 99,841,523 (GRCm39) |
I1574V |
probably benign |
Het |
Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
Gpr158 |
G |
T |
2: 21,373,362 (GRCm39) |
C99F |
probably damaging |
Het |
Gtf2h1 |
C |
T |
7: 46,454,489 (GRCm39) |
A157V |
probably benign |
Het |
Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
Igkv12-44 |
A |
G |
6: 69,791,868 (GRCm39) |
S32P |
probably benign |
Het |
Klk6 |
A |
G |
7: 43,478,597 (GRCm39) |
H168R |
probably benign |
Het |
Lin54 |
G |
A |
5: 100,623,603 (GRCm39) |
S78L |
possibly damaging |
Het |
Lzts1 |
G |
T |
8: 69,588,579 (GRCm39) |
A459E |
possibly damaging |
Het |
Mlf1 |
G |
A |
3: 67,291,910 (GRCm39) |
S25N |
probably benign |
Het |
Mrgprx2 |
C |
A |
7: 48,132,738 (GRCm39) |
V27L |
probably benign |
Het |
Myof |
T |
A |
19: 37,911,456 (GRCm39) |
R1505* |
probably null |
Het |
Or4k15 |
T |
C |
14: 50,364,889 (GRCm39) |
V285A |
probably benign |
Het |
Otud7a |
A |
G |
7: 63,300,702 (GRCm39) |
D47G |
probably damaging |
Het |
Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
Psg20 |
A |
T |
7: 18,418,434 (GRCm39) |
V111D |
probably damaging |
Het |
Simc1 |
C |
G |
13: 54,674,073 (GRCm39) |
S807* |
probably null |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Snrpa |
A |
T |
7: 26,892,293 (GRCm39) |
|
probably null |
Het |
Sval2 |
T |
A |
6: 41,837,283 (GRCm39) |
L4H |
probably damaging |
Het |
Tax1bp1 |
C |
T |
6: 52,743,036 (GRCm39) |
Q808* |
probably null |
Het |
Tnfrsf11a |
T |
C |
1: 105,754,962 (GRCm39) |
Y345H |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,954,340 (GRCm39) |
L853P |
probably damaging |
Het |
Trpm3 |
A |
G |
19: 22,956,002 (GRCm39) |
R1155G |
probably damaging |
Het |
Ube4a |
T |
C |
9: 44,851,297 (GRCm39) |
E739G |
probably damaging |
Het |
Zfp433 |
A |
C |
10: 81,556,046 (GRCm39) |
T182P |
probably damaging |
Het |
|
Other mutations in Scamp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
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'- TTTCATGAGGATGCCAGGAGAG -3'
(R):5'- TAATGTTCCACTCAGCAGCCC -3'
Sequencing Primer
(F):5'- CGGATGCTTCAGAAATGACTG -3'
(R):5'- CCCTAGGGACCCAATGATCTC -3'
|
Posted On |
2015-06-12 |