Incidental Mutation 'R1023:Scart1'
| ID |
94631 |
| 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 |
039125-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1023 (G1)
|
| Quality Score |
193 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139798180-139811058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139804376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 484
(C484S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084460]
[ENSMUST00000209398]
[ENSMUST00000209637]
|
| AlphaFold |
A0A1B0GSB0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084460
AA Change: C484S
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: C484S
| 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 |
noncoding transcript
Transcript: ENSMUST00000209376
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209398
AA Change: C484S
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209637
AA Change: C484S
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211540
|
| Meta Mutation Damage Score |
0.3301 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,772,632 (GRCm39) |
A607V |
probably damaging |
Het |
| 4930523C07Rik |
A |
G |
1: 159,905,057 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,550,092 (GRCm39) |
L713Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,676 (GRCm39) |
T1010A |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 123,591,939 (GRCm39) |
I608T |
probably damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,187,145 (GRCm39) |
D40E |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 120,901,207 (GRCm39) |
G118R |
unknown |
Het |
| Cryge |
C |
A |
1: 65,089,945 (GRCm39) |
C79F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,878,799 (GRCm39) |
L596P |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,277 (GRCm39) |
E490G |
probably damaging |
Het |
| Enam |
A |
G |
5: 88,649,826 (GRCm39) |
Q445R |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
T |
8: 125,597,519 (GRCm39) |
D27V |
probably benign |
Het |
| Htr5a |
A |
T |
5: 28,047,996 (GRCm39) |
T184S |
possibly damaging |
Het |
| Lap3 |
C |
T |
5: 45,652,553 (GRCm39) |
P50S |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,288,271 (GRCm39) |
M589K |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,618,247 (GRCm39) |
P109L |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,703,778 (GRCm39) |
F168L |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,641 (GRCm39) |
F1661I |
probably damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,473 (GRCm39) |
L206H |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,178 (GRCm39) |
N307K |
probably benign |
Het |
| Plac8 |
A |
T |
5: 100,704,447 (GRCm39) |
D83E |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,091,328 (GRCm39) |
|
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,825,140 (GRCm39) |
Q86K |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,863 (GRCm39) |
L1057P |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,708,635 (GRCm39) |
H2284R |
probably damaging |
Het |
| Skint6 |
A |
C |
4: 113,095,300 (GRCm39) |
S120A |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,864,770 (GRCm39) |
V270M |
probably damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,142 (GRCm39) |
M85T |
probably benign |
Het |
| Taf1b |
G |
T |
12: 24,559,558 (GRCm39) |
|
probably benign |
Het |
| Tert |
A |
G |
13: 73,790,178 (GRCm39) |
N844S |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,073,882 (GRCm39) |
S288L |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,955,180 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
T |
C |
11: 102,202,276 (GRCm39) |
E197G |
possibly damaging |
Het |
| Usp20 |
G |
T |
2: 30,897,825 (GRCm39) |
G216W |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,759,457 (GRCm39) |
V40E |
unknown |
Het |
| Zfp335 |
G |
A |
2: 164,734,505 (GRCm39) |
H1254Y |
possibly 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 |
|
|
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 |
|
|
R8535:Scart1
|
UTSW |
7 |
139,804,634 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- TTCCTGCCAGGACTCCAAGACATC -3'
(R):5'- TGTAGGTCCCAGGCATCATCACAC -3'
Sequencing Primer
(F):5'- ATCCTGCGGCTGAGAGATG -3'
(R):5'- CACCTAACTGGATATCACGAGGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation