Incidental Mutation 'IGL02168:Scart1'
| ID |
282795 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Scart1
|
| Ensembl Gene |
ENSMUSG00000025461 |
| Gene Name |
scavenger receptor family member expressed on T cells 1 |
| Synonyms |
E430002D04Rik, Cd163l1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02168
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139798180-139811058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 139803399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 321
(H321L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084460]
[ENSMUST00000209398]
[ENSMUST00000209637]
|
| AlphaFold |
A0A1B0GSB0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084460
AA Change: H321L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: H321L
| 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 |
probably benign
Transcript: ENSMUST00000209398
AA Change: H321L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209637
AA Change: H321L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209840
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211540
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010007H06Rik |
T |
C |
9: 51,191,801 (GRCm39) |
|
probably benign |
Het |
| 6030468B19Rik |
T |
A |
11: 117,689,244 (GRCm39) |
|
probably benign |
Het |
| Ankra2 |
G |
A |
13: 98,409,882 (GRCm39) |
|
probably benign |
Het |
| Astn1 |
C |
A |
1: 158,436,911 (GRCm39) |
A823E |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,740,362 (GRCm39) |
|
probably benign |
Het |
| Clec4b2 |
T |
A |
6: 123,181,156 (GRCm39) |
N180K |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,813,143 (GRCm39) |
|
probably benign |
Het |
| Dhrs7c |
T |
C |
11: 67,706,693 (GRCm39) |
F284L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,678,860 (GRCm39) |
|
probably benign |
Het |
| Entpd5 |
A |
T |
12: 84,433,752 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,139,020 (GRCm39) |
|
probably benign |
Het |
| Kdm3a |
A |
G |
6: 71,577,101 (GRCm39) |
V738A |
probably damaging |
Het |
| Klf10 |
A |
T |
15: 38,297,085 (GRCm39) |
F318L |
probably damaging |
Het |
| Mcc |
A |
C |
18: 44,582,366 (GRCm39) |
I770S |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,778,292 (GRCm39) |
|
noncoding transcript |
Het |
| Or9a4 |
A |
T |
6: 40,548,317 (GRCm39) |
|
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,635 (GRCm39) |
T1038A |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,248,660 (GRCm39) |
|
probably benign |
Het |
| Polr2c |
A |
G |
8: 95,584,394 (GRCm39) |
R36G |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,979,430 (GRCm39) |
|
probably null |
Het |
| Taf5 |
A |
G |
19: 47,070,917 (GRCm39) |
D747G |
probably damaging |
Het |
| Tll1 |
T |
G |
8: 64,507,001 (GRCm39) |
K580T |
possibly damaging |
Het |
| Tmc3 |
A |
T |
7: 83,269,203 (GRCm39) |
N768I |
possibly damaging |
Het |
| Top1 |
G |
T |
2: 160,546,893 (GRCm39) |
|
probably null |
Het |
| Ubtf |
T |
C |
11: 102,204,994 (GRCm39) |
K97E |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,057,355 (GRCm39) |
V509A |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,804,062 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,364,712 (GRCm39) |
V565A |
possibly damaging |
Het |
| Zfp458 |
A |
T |
13: 67,406,098 (GRCm39) |
C111S |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation