Incidental Mutation 'IGL02831:Scart1'
| ID |
361419 |
| 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 # |
IGL02831
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
139798180-139811058 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 139808434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 782
(V782L)
|
| 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: V782L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000081497
Gene: ENSMUSG00000025461
AA Change: V782L
| 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: V782L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209637
AA Change: V782L
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,943,907 (GRCm39) |
V1121M |
probably damaging |
Het |
| Acrbp |
C |
A |
6: 125,038,212 (GRCm39) |
T471N |
possibly damaging |
Het |
| Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
| Casp7 |
A |
G |
19: 56,392,855 (GRCm39) |
D3G |
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,982,469 (GRCm39) |
C456S |
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,972,983 (GRCm39) |
L1499R |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,931,250 (GRCm39) |
S1422P |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,359,235 (GRCm39) |
D216G |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,080 (GRCm38) |
T130A |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,874,395 (GRCm39) |
M1409K |
probably benign |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,678,746 (GRCm39) |
V465A |
probably benign |
Het |
| Ints8 |
T |
C |
4: 11,245,896 (GRCm39) |
Q194R |
possibly damaging |
Het |
| Ip6k2 |
C |
T |
9: 108,681,733 (GRCm39) |
|
probably benign |
Het |
| Kctd2 |
T |
A |
11: 115,321,166 (GRCm39) |
*264K |
probably null |
Het |
| Krt34 |
C |
A |
11: 99,930,973 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
A |
G |
1: 153,122,801 (GRCm39) |
S760P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,083,603 (GRCm39) |
N1702S |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,285,429 (GRCm39) |
S551R |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,202,071 (GRCm39) |
V139A |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,988,994 (GRCm39) |
L9P |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,236,184 (GRCm39) |
T408A |
probably benign |
Het |
| Or2h15 |
T |
C |
17: 38,441,403 (GRCm39) |
K227E |
probably benign |
Het |
| Or2w6 |
T |
C |
13: 21,843,074 (GRCm39) |
I140V |
probably benign |
Het |
| Or5l13 |
T |
C |
2: 87,780,020 (GRCm39) |
|
probably null |
Het |
| Panx1 |
A |
G |
9: 14,918,944 (GRCm39) |
L305P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,364,889 (GRCm39) |
H676R |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,130,574 (GRCm39) |
V458E |
probably damaging |
Het |
| Ppp5c |
A |
G |
7: 16,742,570 (GRCm39) |
L256P |
probably damaging |
Het |
| Pyroxd2 |
G |
T |
19: 42,724,342 (GRCm39) |
T307K |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,471,190 (GRCm39) |
E379G |
probably damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,483,052 (GRCm39) |
T276A |
possibly damaging |
Het |
| Slc26a3 |
T |
C |
12: 31,502,628 (GRCm39) |
I283T |
probably damaging |
Het |
| Sltm |
A |
G |
9: 70,492,147 (GRCm39) |
D712G |
probably damaging |
Het |
| Slu7 |
C |
T |
11: 43,333,480 (GRCm39) |
Q367* |
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,311,299 (GRCm39) |
N706S |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,408,335 (GRCm39) |
M870K |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,922,545 (GRCm39) |
Y2453H |
possibly damaging |
Het |
| Tomm40 |
A |
G |
7: 19,437,014 (GRCm39) |
Y274H |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,651,770 (GRCm39) |
D404E |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,681,344 (GRCm39) |
M84K |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 7,913,787 (GRCm39) |
Y621H |
possibly damaging |
Het |
| Wfdc8 |
C |
T |
2: 164,447,685 (GRCm39) |
|
probably null |
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 |
|
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 |
2015-12-18 |
Incidental Mutation