Incidental Mutation 'IGL03289:Scart1'
| ID |
415845 |
| 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 # |
IGL03289
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139798180-139811058 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 139808973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084460]
[ENSMUST00000209398]
[ENSMUST00000209637]
|
| AlphaFold |
A0A1B0GSB0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084460
|
| SMART Domains |
Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
| 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
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209637
|
| 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 |
|---|
| Akap10 |
A |
G |
11: 61,768,794 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,127,261 (GRCm39) |
Y3703C |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,326,995 (GRCm39) |
V728A |
probably benign |
Het |
| B3galt2 |
T |
C |
1: 143,523,042 (GRCm39) |
Y393H |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,287,257 (GRCm39) |
I664F |
probably damaging |
Het |
| Clec2e |
A |
T |
6: 129,075,418 (GRCm39) |
I41N |
probably damaging |
Het |
| Col2a1 |
A |
T |
15: 97,878,762 (GRCm39) |
N845K |
unknown |
Het |
| Cubn |
T |
G |
2: 13,431,778 (GRCm39) |
I1272L |
probably benign |
Het |
| Dnajc5 |
T |
C |
2: 181,189,260 (GRCm39) |
Y79H |
probably damaging |
Het |
| Eml6 |
G |
T |
11: 29,745,328 (GRCm39) |
A1006E |
possibly damaging |
Het |
| Igsf5 |
A |
T |
16: 96,326,632 (GRCm39) |
D271V |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,205,667 (GRCm39) |
A70V |
possibly damaging |
Het |
| Kcnn2 |
A |
T |
18: 45,810,111 (GRCm39) |
K309N |
probably damaging |
Het |
| Lrch4 |
T |
C |
5: 137,631,839 (GRCm39) |
S22P |
probably damaging |
Het |
| Mcpt2 |
A |
T |
14: 56,281,794 (GRCm39) |
I215F |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,313,634 (GRCm39) |
|
probably null |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Or1l4b |
C |
T |
2: 37,036,590 (GRCm39) |
A122V |
probably damaging |
Het |
| Osbp2 |
A |
G |
11: 3,813,380 (GRCm39) |
V163A |
probably benign |
Het |
| Pla2g6 |
G |
A |
15: 79,201,985 (GRCm39) |
P62L |
probably damaging |
Het |
| Senp1 |
G |
T |
15: 97,982,926 (GRCm39) |
H20Q |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,354,325 (GRCm39) |
Y31H |
probably damaging |
Het |
| Thbs2 |
T |
A |
17: 14,910,384 (GRCm39) |
N72Y |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,343,818 (GRCm39) |
S1366T |
possibly damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,284,182 (GRCm39) |
D288E |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,196,788 (GRCm39) |
|
probably benign |
Het |
| Vnn3 |
A |
T |
10: 23,741,735 (GRCm39) |
S347C |
possibly damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,050,280 (GRCm39) |
V37A |
probably benign |
Het |
| Zfp597 |
A |
T |
16: 3,683,786 (GRCm39) |
D323E |
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 |
|
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 |
2016-08-02 |
Incidental Mutation