Incidental Mutation 'R1160:Scamp3'
| ID |
100294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scamp3
|
| Ensembl Gene |
ENSMUSG00000028049 |
| Gene Name |
secretory carrier membrane protein 3 |
| Synonyms |
Sc3 |
| MMRRC Submission |
039233-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R1160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89084780-89090072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89088505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 237
(F237S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000041913]
[ENSMUST00000090927]
[ENSMUST00000098941]
[ENSMUST00000117278]
[ENSMUST00000119707]
[ENSMUST00000120697]
[ENSMUST00000121212]
[ENSMUST00000127982]
[ENSMUST00000147696]
[ENSMUST00000121931]
[ENSMUST00000128318]
[ENSMUST00000140473]
|
| AlphaFold |
O35609 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029684
AA Change: F236S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049
AA Change: F236S
| 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 benign
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 benign
Transcript: ENSMUST00000090927
|
| SMART Domains |
Protein: ENSMUSP00000088445
Gene: ENSMUSG00000068917
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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 benign
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 benign
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: F237S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049
AA Change: F237S
| 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: ENSMUST00000136165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126115
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121212
|
| SMART Domains |
Protein: ENSMUSP00000113390
Gene: ENSMUSG00000068917
| Domain | Start | End | E-Value | Type |
|---|
|
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: 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 benign
Transcript: ENSMUST00000121931
|
| SMART Domains |
Protein: ENSMUSP00000113861
Gene: ENSMUSG00000068917
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000140473
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.3%
- 10x: 92.7%
- 20x: 81.6%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
G |
T |
1: 89,770,876 (GRCm39) |
K622N |
probably damaging |
Het |
| Ap3b2 |
A |
T |
7: 81,115,917 (GRCm39) |
|
probably null |
Het |
| Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
| Astn1 |
T |
C |
1: 158,427,935 (GRCm39) |
V702A |
possibly damaging |
Het |
| Bach1 |
T |
C |
16: 87,512,322 (GRCm39) |
V15A |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
| Ccar2 |
C |
T |
14: 70,377,218 (GRCm39) |
V774M |
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,386,989 (GRCm39) |
D379G |
possibly damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,100,405 (GRCm39) |
I45K |
possibly damaging |
Het |
| Ddx17 |
T |
A |
15: 79,425,288 (GRCm39) |
S128C |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,910,614 (GRCm39) |
N192S |
probably benign |
Het |
| Epha3 |
T |
G |
16: 63,593,431 (GRCm39) |
D219A |
probably damaging |
Het |
| Fhod3 |
C |
T |
18: 25,118,293 (GRCm39) |
A210V |
probably damaging |
Het |
| Khdc4 |
C |
A |
3: 88,616,169 (GRCm39) |
P452Q |
probably damaging |
Het |
| Klhl5 |
A |
G |
5: 65,298,683 (GRCm39) |
N154S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,640,033 (GRCm39) |
N373D |
possibly damaging |
Het |
| Map3k20 |
A |
G |
2: 72,271,864 (GRCm39) |
N664S |
probably benign |
Het |
| Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
| Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
| Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
| Pglyrp4 |
T |
A |
3: 90,636,138 (GRCm39) |
|
probably null |
Het |
| Pole |
A |
G |
5: 110,443,119 (GRCm39) |
E349G |
possibly damaging |
Het |
| Ptprj |
A |
G |
2: 90,274,868 (GRCm39) |
Y1165H |
probably damaging |
Het |
| Rasd1 |
T |
A |
11: 59,855,547 (GRCm39) |
I29F |
possibly damaging |
Het |
| Sccpdh |
T |
G |
1: 179,511,775 (GRCm39) |
D82E |
probably benign |
Het |
| Slc19a3 |
A |
C |
1: 83,000,413 (GRCm39) |
H201Q |
possibly damaging |
Het |
| Slc5a4a |
G |
A |
10: 76,013,995 (GRCm39) |
A401T |
possibly damaging |
Het |
| Snupn |
T |
G |
9: 56,864,389 (GRCm39) |
C29W |
probably benign |
Het |
| Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
| Sox17 |
A |
T |
1: 4,562,075 (GRCm39) |
V310E |
probably damaging |
Het |
| Srgap1 |
T |
A |
10: 121,691,382 (GRCm39) |
Y284F |
probably benign |
Het |
| Srpk1 |
C |
A |
17: 28,818,748 (GRCm39) |
V363F |
probably benign |
Het |
| Syt13 |
T |
A |
2: 92,773,387 (GRCm39) |
|
probably null |
Het |
| Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
| Tal1 |
A |
T |
4: 114,925,813 (GRCm39) |
D294V |
probably damaging |
Het |
| Tbl2 |
A |
G |
5: 135,188,246 (GRCm39) |
T347A |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,381,434 (GRCm39) |
S110P |
probably benign |
Het |
| Tmem132a |
A |
G |
19: 10,835,938 (GRCm39) |
V864A |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,221,073 (GRCm39) |
I80T |
probably benign |
Het |
| Trappc6b |
G |
A |
12: 59,097,064 (GRCm39) |
T86I |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,038,910 (GRCm39) |
I1130N |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,231 (GRCm39) |
V824A |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,654,936 (GRCm39) |
V685E |
probably damaging |
Het |
| Zp2 |
A |
T |
7: 119,735,268 (GRCm39) |
D368E |
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 |
|
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation