Incidental Mutation 'R5762:Scamp3'
| ID |
446038 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5762 (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 89088504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 237
(F237L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112846
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029684]
[ENSMUST00000041913]
[ENSMUST00000090927]
[ENSMUST00000098941]
[ENSMUST00000117278]
[ENSMUST00000119707]
[ENSMUST00000120697]
[ENSMUST00000147696]
[ENSMUST00000121212]
[ENSMUST00000121931]
[ENSMUST00000127982]
[ENSMUST00000140473]
[ENSMUST00000128318]
|
| AlphaFold |
O35609 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029684
AA Change: F236L
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049
AA Change: F236L
| 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: F237L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049
AA Change: F237L
| 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: ENSMUST00000129294
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148881
|
| 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: 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 |
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: 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
T |
5: 77,044,445 (GRCm39) |
D148E |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,531,665 (GRCm39) |
I4631V |
probably damaging |
Het |
| Adamts16 |
A |
T |
13: 70,886,617 (GRCm39) |
W1058R |
probably damaging |
Het |
| Adgrf5 |
A |
G |
17: 43,741,586 (GRCm39) |
I163V |
probably null |
Het |
| Ano1 |
T |
A |
7: 144,201,774 (GRCm39) |
Y338F |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,418,521 (GRCm39) |
D603G |
probably damaging |
Het |
| Bmp2k |
GGCCCGC |
GGC |
5: 97,235,050 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
T |
C |
1: 158,074,156 (GRCm39) |
D655G |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,321 (GRCm39) |
S299P |
probably benign |
Het |
| Calhm1 |
T |
A |
19: 47,132,058 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Cd27 |
A |
G |
6: 125,213,561 (GRCm39) |
F48S |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,844,947 (GRCm39) |
Y41H |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 9,748,394 (GRCm39) |
S701P |
possibly damaging |
Het |
| Ctbp2 |
G |
T |
7: 132,597,088 (GRCm39) |
A665D |
probably damaging |
Het |
| Ctsd |
C |
A |
7: 141,937,266 (GRCm39) |
G81C |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dpysl4 |
C |
T |
7: 138,671,853 (GRCm39) |
A67V |
probably benign |
Het |
| Dst |
C |
T |
1: 34,218,438 (GRCm39) |
T1626I |
probably damaging |
Het |
| Etfdh |
A |
C |
3: 79,523,261 (GRCm39) |
D217E |
probably null |
Het |
| Far1 |
T |
A |
7: 113,167,396 (GRCm39) |
Y494N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,990,366 (GRCm39) |
T1110M |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,488,876 (GRCm39) |
D78Y |
probably damaging |
Het |
| Fsip2 |
G |
A |
2: 82,808,260 (GRCm39) |
M1526I |
probably benign |
Het |
| Ggn |
C |
T |
7: 28,871,777 (GRCm39) |
P399S |
probably damaging |
Het |
| H2ac6 |
C |
T |
13: 23,867,888 (GRCm39) |
G5S |
probably damaging |
Het |
| Hap1 |
A |
G |
11: 100,246,600 (GRCm39) |
W102R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,846,938 (GRCm39) |
S3629R |
possibly damaging |
Het |
| Hyal4 |
A |
C |
6: 24,765,861 (GRCm39) |
Y405S |
possibly damaging |
Het |
| Ifi204 |
G |
A |
1: 173,580,325 (GRCm39) |
T395I |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,326,005 (GRCm39) |
E1147G |
probably damaging |
Het |
| Inpp5a |
T |
A |
7: 139,118,097 (GRCm39) |
I225N |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,972,518 (GRCm39) |
K455R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,515,455 (GRCm39) |
D2796G |
probably benign |
Het |
| Ngp |
A |
T |
9: 110,251,401 (GRCm39) |
D143V |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,118,264 (GRCm39) |
C663R |
possibly damaging |
Het |
| Nup205 |
G |
T |
6: 35,204,615 (GRCm39) |
R1469L |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,207,483 (GRCm39) |
F1512I |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,397,542 (GRCm39) |
S594P |
probably damaging |
Het |
| Nxpe2 |
A |
C |
9: 48,230,875 (GRCm39) |
V498G |
probably benign |
Het |
| P3h4 |
G |
A |
11: 100,302,677 (GRCm39) |
R320C |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,063,455 (GRCm39) |
L2273P |
probably damaging |
Het |
| Ppp1r14b |
C |
T |
19: 6,953,951 (GRCm39) |
L100F |
probably damaging |
Het |
| Prlhr |
C |
T |
19: 60,455,506 (GRCm39) |
W353* |
probably null |
Het |
| Ralgps2 |
C |
T |
1: 156,660,234 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
C |
T |
19: 41,868,591 (GRCm39) |
G584D |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,464,507 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Shroom1 |
A |
T |
11: 53,354,818 (GRCm39) |
D246V |
probably benign |
Het |
| Snapc4 |
T |
A |
2: 26,268,618 (GRCm39) |
E14D |
probably damaging |
Het |
| Spag5 |
A |
T |
11: 78,194,972 (GRCm39) |
Q93L |
probably benign |
Het |
| Tcstv5 |
T |
A |
13: 120,411,501 (GRCm39) |
Q35L |
probably benign |
Het |
| Tle1 |
C |
T |
4: 72,038,372 (GRCm39) |
|
probably null |
Het |
| Ttll10 |
G |
A |
4: 156,119,438 (GRCm39) |
P683S |
possibly damaging |
Het |
| Unc13c |
A |
C |
9: 73,719,649 (GRCm39) |
D1006E |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,732,955 (GRCm39) |
K3101N |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,278,280 (GRCm39) |
Y247C |
possibly damaging |
Het |
| Vmn2r1 |
G |
A |
3: 63,997,474 (GRCm39) |
V377I |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,710,352 (GRCm39) |
T552A |
probably damaging |
Het |
| Xrcc3 |
C |
T |
12: 111,771,044 (GRCm39) |
R295Q |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,664,243 (GRCm39) |
N104S |
probably benign |
Het |
| Zkscan17 |
A |
G |
11: 59,378,397 (GRCm39) |
V262A |
possibly 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 |
|
|
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 |
|
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'- TACCGCCCGATGTATAAGGC -3'
(R):5'- ACCCACATGACCCTTAGTTGG -3'
Sequencing Primer
(F):5'- CCCGATGTATAAGGCTTTCCGG -3'
(R):5'- TGACCCTTAGTTGGACAACC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation