Incidental Mutation 'R2906:Scamp5'
ID |
261660 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scamp5
|
Ensembl Gene |
ENSMUSG00000040722 |
Gene Name |
secretory carrier membrane protein 5 |
Synonyms |
Sc5 |
MMRRC Submission |
040493-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2906 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
57348610-57375343 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57351146 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 172
(V172A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046587]
[ENSMUST00000085709]
[ENSMUST00000213771]
[ENSMUST00000214065]
[ENSMUST00000214144]
[ENSMUST00000214166]
[ENSMUST00000215734]
[ENSMUST00000214256]
[ENSMUST00000215299]
[ENSMUST00000216365]
[ENSMUST00000214624]
[ENSMUST00000214339]
[ENSMUST00000215883]
|
AlphaFold |
Q9JKD3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046587
AA Change: V172A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035898 Gene: ENSMUSG00000040722 AA Change: V172A
Domain | Start | End | E-Value | Type |
Pfam:SCAMP
|
5 |
179 |
2.1e-69 |
PFAM |
low complexity region
|
201 |
218 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000085709
|
SMART Domains |
Protein: ENSMUSP00000082856 Gene: ENSMUSG00000063849
Domain | Start | End | E-Value | Type |
Pfam:Flavoprotein
|
18 |
149 |
7.9e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213771
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214065
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214144
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214166
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215734
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214256
AA Change: V172A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215299
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216365
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215208
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214339
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215883
|
Meta Mutation Damage Score |
0.7152 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
97% (37/38) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the Scamp (secretory carrier membrane protein) family. The encoded protein may be involved in neuronal vesicle trafficking. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
T |
8: 25,353,520 (GRCm39) |
W690R |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,308,694 (GRCm39) |
I800T |
probably benign |
Het |
Afg3l2 |
G |
A |
18: 67,573,292 (GRCm39) |
T170M |
probably damaging |
Het |
Ap1b1 |
T |
A |
11: 4,981,641 (GRCm39) |
N516K |
probably damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,199 (GRCm39) |
C211S |
probably damaging |
Het |
Atp7b |
G |
A |
8: 22,501,570 (GRCm39) |
T781I |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,871,850 (GRCm39) |
T432A |
possibly damaging |
Het |
Col13a1 |
T |
C |
10: 61,696,267 (GRCm39) |
|
probably benign |
Het |
Ddx4 |
G |
T |
13: 112,757,311 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
A |
T |
16: 16,132,175 (GRCm39) |
S666T |
probably damaging |
Het |
Duoxa1 |
C |
T |
2: 122,135,155 (GRCm39) |
V197M |
probably benign |
Het |
Gm6430 |
A |
T |
1: 96,952,554 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2a1l |
G |
A |
17: 89,002,083 (GRCm39) |
R313H |
possibly damaging |
Het |
Gucy2c |
A |
T |
6: 136,685,385 (GRCm39) |
V852E |
probably damaging |
Het |
Kcnk1 |
G |
T |
8: 126,722,538 (GRCm39) |
V114L |
probably benign |
Het |
Klra3 |
G |
T |
6: 130,310,302 (GRCm39) |
Q73K |
probably damaging |
Het |
Lax1 |
A |
T |
1: 133,616,643 (GRCm39) |
M1K |
probably null |
Het |
Lce1k |
T |
C |
3: 92,713,882 (GRCm39) |
S101G |
unknown |
Het |
Med12l |
T |
C |
3: 59,164,503 (GRCm39) |
L1365P |
probably damaging |
Het |
Mtx2 |
T |
C |
2: 74,697,253 (GRCm39) |
S83P |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,504 (GRCm39) |
C511G |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,890,216 (GRCm39) |
I801T |
probably benign |
Het |
Or8g24 |
A |
G |
9: 38,989,669 (GRCm39) |
V124A |
probably benign |
Het |
Oxct2b |
A |
G |
4: 123,010,823 (GRCm39) |
I248V |
probably benign |
Het |
Pcdhgb2 |
A |
T |
18: 37,823,908 (GRCm39) |
I300F |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,992,272 (GRCm39) |
A1285V |
possibly damaging |
Het |
Rassf3 |
A |
G |
10: 121,250,297 (GRCm39) |
L172P |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,380,270 (GRCm39) |
T516S |
probably benign |
Het |
Rpusd1 |
T |
C |
17: 25,949,705 (GRCm39) |
S292P |
probably benign |
Het |
Snx25 |
T |
C |
8: 46,502,560 (GRCm39) |
|
probably null |
Het |
Tmprss11g |
A |
G |
5: 86,640,661 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
G |
C |
6: 113,369,471 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
C |
T |
14: 119,256,919 (GRCm39) |
S1105N |
probably benign |
Het |
Usp45 |
T |
A |
4: 21,834,338 (GRCm39) |
Y805* |
probably null |
Het |
Zfp639 |
T |
C |
3: 32,573,900 (GRCm39) |
L175P |
probably damaging |
Het |
Zfp995 |
T |
C |
17: 22,099,247 (GRCm39) |
D329G |
probably benign |
Het |
|
Other mutations in Scamp5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02691:Scamp5
|
APN |
9 |
57,358,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R1636:Scamp5
|
UTSW |
9 |
57,358,692 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2119:Scamp5
|
UTSW |
9 |
57,354,508 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2120:Scamp5
|
UTSW |
9 |
57,354,508 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2124:Scamp5
|
UTSW |
9 |
57,354,508 (GRCm39) |
missense |
possibly damaging |
0.61 |
R2280:Scamp5
|
UTSW |
9 |
57,352,722 (GRCm39) |
missense |
probably benign |
0.18 |
R4766:Scamp5
|
UTSW |
9 |
57,359,319 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4911:Scamp5
|
UTSW |
9 |
57,358,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R5414:Scamp5
|
UTSW |
9 |
57,354,507 (GRCm39) |
missense |
probably benign |
|
R5698:Scamp5
|
UTSW |
9 |
57,352,716 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5783:Scamp5
|
UTSW |
9 |
57,353,353 (GRCm39) |
critical splice donor site |
probably null |
|
R6520:Scamp5
|
UTSW |
9 |
57,354,489 (GRCm39) |
splice site |
probably null |
|
R7234:Scamp5
|
UTSW |
9 |
57,354,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R7703:Scamp5
|
UTSW |
9 |
57,354,465 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8071:Scamp5
|
UTSW |
9 |
57,350,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R8905:Scamp5
|
UTSW |
9 |
57,352,669 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Scamp5
|
UTSW |
9 |
57,350,959 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGGGAGTGGCAGAATACTG -3'
(R):5'- TGTTTCCTGAATAGCTGCCC -3'
Sequencing Primer
(F):5'- CAGAATACTGAGTCTGCGGTTGATTC -3'
(R):5'- GAAGAATTACGTGCCATTGTCTCC -3'
|
Posted On |
2015-01-23 |