Incidental Mutation 'R8535:Scart1'
| ID |
659204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scart1
|
| Ensembl Gene |
ENSMUSG00000025461 |
| Gene Name |
scavenger receptor family member expressed on T cells 1 |
| Synonyms |
E430002D04Rik, Cd163l1 |
| MMRRC Submission |
068504-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139798180-139811058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139804634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 546
(V546M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084460]
[ENSMUST00000209398]
[ENSMUST00000209637]
|
| AlphaFold |
A0A1B0GSB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084460
AA Change: V546M
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: V546M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
SR
|
32 |
132 |
1.45e-30 |
SMART |
|
SR
|
139 |
230 |
4.28e-6 |
SMART |
|
SR
|
235 |
333 |
2.76e-36 |
SMART |
|
SR
|
335 |
435 |
1.32e-33 |
SMART |
|
SR
|
441 |
541 |
5.01e-25 |
SMART |
|
SR
|
546 |
646 |
7.16e-53 |
SMART |
|
SR
|
651 |
752 |
3.44e-14 |
SMART |
|
SR
|
780 |
880 |
8.96e-45 |
SMART |
|
low complexity region
|
882 |
898 |
N/A |
INTRINSIC |
|
transmembrane domain
|
907 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209398
AA Change: V546M
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209637
AA Change: V546M
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,229,328 (GRCm39) |
I362F |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,784,493 (GRCm39) |
S1154T |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,859,211 (GRCm39) |
S2434T |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,808,514 (GRCm39) |
S1372P |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,031,425 (GRCm39) |
Y1002H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,225,082 (GRCm39) |
S1163P |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,250,305 (GRCm39) |
S14T |
probably benign |
Het |
| Gcnt7 |
T |
C |
2: 172,296,466 (GRCm39) |
I119M |
possibly damaging |
Het |
| Gja10 |
G |
A |
4: 32,602,274 (GRCm39) |
L37F |
probably damaging |
Het |
| Gm10750 |
A |
G |
2: 148,857,888 (GRCm39) |
V121A |
unknown |
Het |
| Klhl25 |
G |
A |
7: 75,515,843 (GRCm39) |
V250I |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,730,812 (GRCm39) |
S200R |
possibly damaging |
Het |
| Map1b |
T |
A |
13: 99,571,662 (GRCm39) |
D353V |
probably damaging |
Het |
| Myh8 |
G |
A |
11: 67,169,741 (GRCm39) |
R20Q |
probably damaging |
Het |
| Or4c127 |
G |
A |
2: 89,833,511 (GRCm39) |
V254M |
probably benign |
Het |
| Or6c200-ps1 |
T |
C |
10: 128,869,892 (GRCm39) |
Y273C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
| Pkn3 |
A |
T |
2: 29,969,936 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
T |
A |
12: 98,646,285 (GRCm39) |
T1058S |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,779,433 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
A |
2: 27,129,657 (GRCm39) |
I263F |
probably damaging |
Het |
| Sh3bp5 |
A |
G |
14: 31,139,375 (GRCm39) |
V66A |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,928,730 (GRCm39) |
D294G |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,955,195 (GRCm39) |
S583T |
probably damaging |
Het |
| Tbcb |
G |
A |
7: 29,926,421 (GRCm39) |
P132L |
probably benign |
Het |
| Tcirg1 |
A |
G |
19: 3,946,324 (GRCm39) |
I791T |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,220,985 (GRCm39) |
V320D |
probably damaging |
Het |
| Tnfrsf19 |
T |
C |
14: 61,208,417 (GRCm39) |
E368G |
probably benign |
Het |
| Trdv2-1 |
T |
A |
14: 54,183,972 (GRCm39) |
I67N |
probably damaging |
Het |
| Unc13c |
G |
A |
9: 73,447,653 (GRCm39) |
T1849I |
probably benign |
Het |
| Vav2 |
G |
A |
2: 27,161,841 (GRCm39) |
T655I |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,565,612 (GRCm39) |
Y517H |
possibly damaging |
Het |
| Wdr27 |
G |
A |
17: 15,123,799 (GRCm39) |
T558I |
possibly damaging |
Het |
| Yeats2 |
C |
T |
16: 19,977,926 (GRCm39) |
R137W |
probably damaging |
Het |
|
| Other mutations in Scart1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Scart1
|
APN |
7 |
139,804,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01921:Scart1
|
APN |
7 |
139,808,632 (GRCm39) |
nonsense |
probably null |
|
|
IGL02168:Scart1
|
APN |
7 |
139,803,399 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02306:Scart1
|
APN |
7 |
139,803,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02323:Scart1
|
APN |
7 |
139,808,572 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02457:Scart1
|
APN |
7 |
139,800,308 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02543:Scart1
|
APN |
7 |
139,800,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02831:Scart1
|
APN |
7 |
139,808,434 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03289:Scart1
|
APN |
7 |
139,808,973 (GRCm39) |
critical splice donor site |
probably null |
|
|
lop
|
UTSW |
7 |
139,804,376 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0357:Scart1
|
UTSW |
7 |
139,807,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Scart1
|
UTSW |
7 |
139,804,873 (GRCm39) |
nonsense |
probably null |
|
|
R1023:Scart1
|
UTSW |
7 |
139,804,376 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1519:Scart1
|
UTSW |
7 |
139,808,069 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1711:Scart1
|
UTSW |
7 |
139,800,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Scart1
|
UTSW |
7 |
139,803,890 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4957:Scart1
|
UTSW |
7 |
139,808,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5421:Scart1
|
UTSW |
7 |
139,803,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Scart1
|
UTSW |
7 |
139,804,068 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5851:Scart1
|
UTSW |
7 |
139,807,940 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5906:Scart1
|
UTSW |
7 |
139,808,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Scart1
|
UTSW |
7 |
139,810,359 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6376:Scart1
|
UTSW |
7 |
139,808,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Scart1
|
UTSW |
7 |
139,804,790 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7389:Scart1
|
UTSW |
7 |
139,808,704 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7466:Scart1
|
UTSW |
7 |
139,800,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7686:Scart1
|
UTSW |
7 |
139,802,116 (GRCm39) |
nonsense |
probably null |
|
|
R7722:Scart1
|
UTSW |
7 |
139,802,299 (GRCm39) |
nonsense |
probably null |
|
|
R8900:Scart1
|
UTSW |
7 |
139,808,478 (GRCm39) |
nonsense |
probably null |
|
|
R9041:Scart1
|
UTSW |
7 |
139,808,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9116:Scart1
|
UTSW |
7 |
139,808,277 (GRCm39) |
missense |
probably benign |
|
|
R9319:Scart1
|
UTSW |
7 |
139,807,940 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Scart1
|
UTSW |
7 |
139,804,770 (GRCm39) |
missense |
probably benign |
0.17 |
|
Z1186:Scart1
|
UTSW |
7 |
139,804,403 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATGCTCCAGCTCCTATTTTCAG -3'
(R):5'- ATCCATCCAGATGTGCCCAG -3'
Sequencing Primer
(F):5'- CTGCCTGGGCTCTGAGACTC -3'
(R):5'- AGATGTGCCCAGTCCCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation