Incidental Mutation 'IGL02269:Scamp3'
| ID |
287040 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scamp3
|
| Ensembl Gene |
ENSMUSG00000028049 |
| Gene Name |
secretory carrier membrane protein 3 |
| Synonyms |
Sc3 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
IGL02269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
89084780-89090072 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89088041 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 178
(T178A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000041913]
[ENSMUST00000090927]
[ENSMUST00000098941]
[ENSMUST00000117278]
[ENSMUST00000119707]
[ENSMUST00000120697]
[ENSMUST00000121212]
[ENSMUST00000127982]
[ENSMUST00000147696]
[ENSMUST00000140473]
[ENSMUST00000128318]
[ENSMUST00000121931]
|
| AlphaFold |
O35609 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029684
AA Change: T177A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049
AA Change: T177A
| 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
AA Change: T177A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000096540
Gene: ENSMUSG00000028049
AA Change: T177A
| 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 benign
Transcript: ENSMUST00000120697
AA Change: T178A
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049
AA Change: T178A
| 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: ENSMUST00000139221
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132830
|
| 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: ENSMUST00000140473
|
| 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: 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: ENSMUST00000153255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148881
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
G |
11: 50,833,425 (GRCm39) |
V59A |
unknown |
Het |
| A2ml1 |
C |
A |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,252,659 (GRCm39) |
R263H |
probably benign |
Het |
| B3galt5 |
A |
G |
16: 96,116,730 (GRCm39) |
D121G |
possibly damaging |
Het |
| Becn1 |
A |
G |
11: 101,182,361 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,339,393 (GRCm39) |
L150* |
probably null |
Het |
| Cep170 |
A |
T |
1: 176,596,932 (GRCm39) |
M475K |
probably benign |
Het |
| Cyp24a1 |
C |
T |
2: 170,338,492 (GRCm39) |
G68D |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,742,547 (GRCm39) |
I18N |
probably benign |
Het |
| Dmrt2 |
T |
C |
19: 25,655,823 (GRCm39) |
V474A |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,646,691 (GRCm39) |
D64G |
probably damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,554,568 (GRCm39) |
S223P |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,360 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,315,032 (GRCm39) |
Y50C |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,826,873 (GRCm39) |
S4360A |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,835 (GRCm39) |
V230E |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,609,045 (GRCm39) |
M971T |
probably benign |
Het |
| Gm7275 |
A |
G |
16: 47,894,185 (GRCm39) |
|
noncoding transcript |
Het |
| Hyal6 |
C |
T |
6: 24,740,858 (GRCm39) |
T337I |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,464,357 (GRCm39) |
V1650M |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,579 (GRCm39) |
S188T |
possibly damaging |
Het |
| Or52z14 |
T |
A |
7: 103,253,089 (GRCm39) |
I76N |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,024 (GRCm39) |
I297N |
possibly damaging |
Het |
| Or8c8 |
A |
T |
9: 38,165,232 (GRCm39) |
D173V |
possibly damaging |
Het |
| Pcdh7 |
A |
C |
5: 58,070,664 (GRCm39) |
E1114A |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,958,550 (GRCm39) |
|
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,731 (GRCm39) |
S628C |
probably damaging |
Het |
| Pear1 |
C |
T |
3: 87,663,571 (GRCm39) |
G376S |
probably damaging |
Het |
| Plekha6 |
C |
T |
1: 133,215,587 (GRCm39) |
T644M |
possibly damaging |
Het |
| Plpp1 |
T |
A |
13: 112,993,526 (GRCm39) |
C153S |
probably damaging |
Het |
| Ptpn3 |
G |
A |
4: 57,197,510 (GRCm39) |
T793M |
possibly damaging |
Het |
| Rdh13 |
A |
T |
7: 4,448,497 (GRCm39) |
L5Q |
possibly damaging |
Het |
| Rimbp2 |
G |
T |
5: 128,851,359 (GRCm39) |
D862E |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scamp1 |
C |
T |
13: 94,368,694 (GRCm39) |
|
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,863,628 (GRCm39) |
V853A |
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,071,911 (GRCm39) |
T1197M |
possibly damaging |
Het |
| Sult3a1 |
T |
C |
10: 33,755,259 (GRCm39) |
F275L |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,473,029 (GRCm39) |
I905F |
probably damaging |
Het |
| Tgm3 |
T |
A |
2: 129,866,438 (GRCm39) |
S119T |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,845,357 (GRCm39) |
D424E |
possibly damaging |
Het |
| Tmem45b |
G |
T |
9: 31,339,279 (GRCm39) |
C145* |
probably null |
Het |
| Unc5c |
G |
A |
3: 141,494,743 (GRCm39) |
R352H |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,343 (GRCm39) |
L623P |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,870,947 (GRCm39) |
M779V |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,309,393 (GRCm39) |
N902S |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation