Incidental Mutation 'R5522:Scamp3'
| ID |
431593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scamp3
|
| Ensembl Gene |
ENSMUSG00000028049 |
| Gene Name |
secretory carrier membrane protein 3 |
| Synonyms |
Sc3 |
| MMRRC Submission |
043081-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R5522 (G1)
|
| Quality Score |
168 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
89084780-89090072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89084929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 11
(F11L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000090927]
[ENSMUST00000098941]
[ENSMUST00000120697]
[ENSMUST00000121212]
[ENSMUST00000121931]
[ENSMUST00000148265]
[ENSMUST00000128318]
|
| AlphaFold |
O35609 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029684
AA Change: F11L
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049
AA Change: F11L
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000098941
AA Change: F11L
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096540
Gene: ENSMUSG00000028049
AA Change: F11L
| 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: ENSMUST00000120697
AA Change: F11L
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049
AA Change: F11L
| 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 |
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: 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 |
noncoding transcript
Transcript: ENSMUST00000124291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132830
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153255
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148265
|
| SMART Domains |
Protein: ENSMUSP00000122634
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 |
|
Pfam:Pkinase
|
162 |
249 |
7.4e-12 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.4%
- 10x: 93.9%
- 20x: 85.3%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
T |
C |
8: 84,649,704 (GRCm39) |
Y121H |
possibly damaging |
Het |
| Agbl5 |
G |
A |
5: 31,051,247 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
A |
4: 140,731,671 (GRCm39) |
|
probably null |
Het |
| Cd69 |
A |
T |
6: 129,248,379 (GRCm39) |
S36T |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,449,005 (GRCm39) |
I124L |
probably benign |
Het |
| Cerkl |
T |
C |
2: 79,223,328 (GRCm39) |
H131R |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,453,085 (GRCm39) |
N539K |
probably benign |
Het |
| Cyp4x1 |
C |
A |
4: 114,979,174 (GRCm39) |
W141L |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,993 (GRCm39) |
|
probably null |
Het |
| Dnaaf9 |
G |
A |
2: 130,656,222 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
C |
1: 34,296,954 (GRCm39) |
I5781T |
possibly damaging |
Het |
| Epha2 |
T |
A |
4: 141,035,867 (GRCm39) |
V101E |
probably damaging |
Het |
| Exph5 |
T |
C |
9: 53,285,613 (GRCm39) |
F898S |
possibly damaging |
Het |
| Fyco1 |
G |
A |
9: 123,623,836 (GRCm39) |
R1398* |
probably null |
Het |
| Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,886,746 (GRCm39) |
I508V |
probably benign |
Het |
| Igf1r |
C |
A |
7: 67,833,258 (GRCm39) |
Q473K |
probably damaging |
Het |
| Ighv1-66 |
T |
A |
12: 115,556,755 (GRCm39) |
D109V |
probably damaging |
Het |
| Ipmk |
C |
A |
10: 71,199,304 (GRCm39) |
T55K |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,087,225 (GRCm39) |
Y192H |
probably damaging |
Het |
| Krt32 |
A |
T |
11: 99,977,497 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,620 (GRCm39) |
L178Q |
possibly damaging |
Het |
| Mchr1 |
A |
T |
15: 81,122,211 (GRCm39) |
K320N |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,685,783 (GRCm39) |
L858S |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,464,353 (GRCm39) |
F198Y |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Nfatc1 |
T |
C |
18: 80,696,744 (GRCm39) |
T647A |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,326,453 (GRCm39) |
Y433H |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,061,972 (GRCm39) |
V717A |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,484 (GRCm39) |
Y123C |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,268 (GRCm39) |
L73F |
probably benign |
Het |
| Or6c35 |
A |
T |
10: 129,168,798 (GRCm39) |
D16V |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,811,520 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,402 (GRCm39) |
I108V |
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,710,584 (GRCm39) |
T6S |
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,594,298 (GRCm39) |
V317E |
probably benign |
Het |
| Rars1 |
A |
T |
11: 35,708,195 (GRCm39) |
Y406* |
probably null |
Het |
| Sctr |
A |
G |
1: 119,964,146 (GRCm39) |
N142S |
probably benign |
Het |
| Sh2d4a |
T |
C |
8: 68,749,349 (GRCm39) |
S128P |
probably benign |
Het |
| Snrnp70 |
C |
T |
7: 45,026,601 (GRCm39) |
|
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,945,816 (GRCm39) |
K596R |
probably damaging |
Het |
| Tango6 |
T |
C |
8: 107,422,230 (GRCm39) |
|
probably null |
Het |
| Taok3 |
A |
G |
5: 117,411,822 (GRCm39) |
T414A |
probably benign |
Het |
| Tmem104 |
G |
A |
11: 115,079,149 (GRCm39) |
|
probably null |
Het |
| Tmem231 |
T |
A |
8: 112,645,042 (GRCm39) |
S155C |
possibly damaging |
Het |
| Tssk3 |
G |
A |
4: 129,383,343 (GRCm39) |
R110W |
possibly damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,388,759 (GRCm39) |
T485A |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,613,974 (GRCm39) |
K292E |
possibly damaging |
Het |
| Upf3a |
T |
A |
8: 13,845,497 (GRCm39) |
|
probably null |
Het |
| Usp24 |
T |
A |
4: 106,229,918 (GRCm39) |
V797E |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,839,929 (GRCm39) |
T1872A |
possibly damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,120 (GRCm39) |
M197V |
probably damaging |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,203 (GRCm39) |
T697S |
probably benign |
Het |
| Xab2 |
A |
T |
8: 3,661,718 (GRCm39) |
D578E |
probably benign |
Het |
| Xpo7 |
A |
T |
14: 70,909,090 (GRCm39) |
Y810* |
probably null |
Het |
| Zcchc2 |
A |
G |
1: 105,951,426 (GRCm39) |
N587S |
probably benign |
Het |
| Zfp189 |
C |
T |
4: 49,529,739 (GRCm39) |
R281* |
probably null |
Het |
| Zranb1 |
T |
C |
7: 132,585,678 (GRCm39) |
*735R |
probably null |
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 |
|
|
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 |
|
|
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'- GGGAATCTTCGCGACTCTTC -3'
(R):5'- AACCCGCTCATTAAAGGGGC -3'
Sequencing Primer
(F):5'- CGCGACTCTTCCGGTTG -3'
(R):5'- GAGCCCGCAACCCTTTAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation