Incidental Mutation 'IGL02193:Scart2'
ID |
283971 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Scart2
|
Ensembl Gene |
ENSMUSG00000054672 |
Gene Name |
scavenger receptor family member expressed on T cells 2 |
Synonyms |
5830411N06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02193
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
139827197-139880649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139828913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 191
(T191A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131905
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093984]
[ENSMUST00000164583]
|
AlphaFold |
B3F5L4 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000059882
|
SMART Domains |
Protein: ENSMUSP00000061346 Gene: ENSMUSG00000054672
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SR
|
29 |
130 |
1.49e-18 |
SMART |
SR
|
137 |
233 |
2.53e-4 |
SMART |
SR
|
238 |
336 |
1.65e-34 |
SMART |
SR
|
340 |
440 |
4.53e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093984
AA Change: T191A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000091520 Gene: ENSMUSG00000054672 AA Change: T191A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SR
|
29 |
130 |
1.49e-18 |
SMART |
SR
|
137 |
233 |
2.53e-4 |
SMART |
SR
|
238 |
336 |
1.65e-34 |
SMART |
SR
|
340 |
440 |
4.53e-32 |
SMART |
SR
|
446 |
546 |
8.78e-30 |
SMART |
SR
|
551 |
651 |
1.26e-53 |
SMART |
SR
|
656 |
756 |
2.88e-16 |
SMART |
SR
|
783 |
883 |
7.62e-48 |
SMART |
transmembrane domain
|
903 |
925 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164583
AA Change: T191A
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000131905 Gene: ENSMUSG00000054672 AA Change: T191A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SR
|
29 |
130 |
1.49e-18 |
SMART |
SR
|
137 |
233 |
2.53e-4 |
SMART |
Blast:SR
|
291 |
349 |
5e-12 |
BLAST |
SR
|
354 |
452 |
1.65e-34 |
SMART |
SR
|
456 |
556 |
4.53e-32 |
SMART |
SR
|
562 |
662 |
8.78e-30 |
SMART |
SR
|
667 |
767 |
1.26e-53 |
SMART |
SR
|
772 |
872 |
2.88e-16 |
SMART |
SR
|
899 |
999 |
7.62e-48 |
SMART |
transmembrane domain
|
1019 |
1041 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210212
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,572,815 (GRCm39) |
L812P |
probably damaging |
Het |
Ankmy1 |
A |
T |
1: 92,808,767 (GRCm39) |
F714I |
probably benign |
Het |
Armh3 |
G |
T |
19: 45,961,323 (GRCm39) |
T118K |
probably benign |
Het |
Celf5 |
A |
G |
10: 81,306,507 (GRCm39) |
I52T |
probably damaging |
Het |
Clstn1 |
T |
C |
4: 149,729,809 (GRCm39) |
V771A |
probably benign |
Het |
Enpep |
G |
T |
3: 129,075,336 (GRCm39) |
L661I |
possibly damaging |
Het |
Faxc |
A |
G |
4: 21,993,486 (GRCm39) |
N377D |
possibly damaging |
Het |
Gabrb3 |
A |
G |
7: 57,442,264 (GRCm39) |
E190G |
probably damaging |
Het |
Gm4787 |
C |
T |
12: 81,425,302 (GRCm39) |
M285I |
probably benign |
Het |
Gm5900 |
A |
C |
7: 104,599,231 (GRCm39) |
|
noncoding transcript |
Het |
Gm6133 |
A |
G |
18: 78,393,308 (GRCm39) |
N101D |
probably benign |
Het |
Gtse1 |
A |
G |
15: 85,746,531 (GRCm39) |
K116E |
probably benign |
Het |
H2-D1 |
T |
G |
17: 35,484,785 (GRCm39) |
H215Q |
possibly damaging |
Het |
Hdc |
A |
T |
2: 126,443,700 (GRCm39) |
|
probably benign |
Het |
Hnrnph3 |
T |
C |
10: 62,853,056 (GRCm39) |
H195R |
probably damaging |
Het |
Ipo8 |
T |
C |
6: 148,678,782 (GRCm39) |
T939A |
probably damaging |
Het |
Irag1 |
A |
T |
7: 110,498,162 (GRCm39) |
L411Q |
probably damaging |
Het |
Krt79 |
G |
T |
15: 101,848,340 (GRCm39) |
P104T |
possibly damaging |
Het |
Lama4 |
A |
T |
10: 38,918,670 (GRCm39) |
M384L |
probably benign |
Het |
Lamb2 |
T |
G |
9: 108,366,559 (GRCm39) |
D1590E |
probably benign |
Het |
Ly6i |
A |
T |
15: 74,854,879 (GRCm39) |
C10* |
probably null |
Het |
Mamdc4 |
G |
A |
2: 25,454,458 (GRCm39) |
A1082V |
probably benign |
Het |
Nlrp4a |
T |
A |
7: 26,159,117 (GRCm39) |
L799H |
probably damaging |
Het |
Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
Or2y13 |
C |
T |
11: 49,414,571 (GRCm39) |
T7I |
possibly damaging |
Het |
Or5al6 |
A |
T |
2: 85,977,059 (GRCm39) |
N6K |
probably benign |
Het |
Or6b1 |
T |
C |
6: 42,815,753 (GRCm39) |
|
probably benign |
Het |
Otud6b |
T |
C |
4: 14,812,543 (GRCm39) |
H268R |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,714,927 (GRCm39) |
E138G |
probably damaging |
Het |
Phactr1 |
T |
C |
13: 42,863,176 (GRCm39) |
|
probably benign |
Het |
Psmf1 |
A |
G |
2: 151,562,733 (GRCm39) |
|
probably benign |
Het |
Rab32 |
T |
C |
10: 10,422,199 (GRCm39) |
|
probably benign |
Het |
Rfwd3 |
C |
T |
8: 111,999,647 (GRCm39) |
|
probably benign |
Het |
Slc25a3 |
A |
G |
10: 90,953,977 (GRCm39) |
V245A |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Thoc1 |
A |
G |
18: 9,992,863 (GRCm39) |
D545G |
probably benign |
Het |
Tpst1 |
T |
A |
5: 130,130,737 (GRCm39) |
M69K |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,196,344 (GRCm39) |
V1456A |
probably benign |
Het |
Trappc6a |
T |
A |
7: 19,249,144 (GRCm39) |
C124S |
possibly damaging |
Het |
Tsc22d2 |
T |
A |
3: 58,367,628 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Scart2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Scart2
|
APN |
7 |
139,874,755 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01101:Scart2
|
APN |
7 |
139,876,017 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01120:Scart2
|
APN |
7 |
139,876,472 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01958:Scart2
|
APN |
7 |
139,854,040 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02150:Scart2
|
APN |
7 |
139,877,772 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02239:Scart2
|
APN |
7 |
139,875,756 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02335:Scart2
|
APN |
7 |
139,876,453 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02569:Scart2
|
APN |
7 |
139,878,275 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02993:Scart2
|
APN |
7 |
139,876,486 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03261:Scart2
|
APN |
7 |
139,874,746 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03365:Scart2
|
APN |
7 |
139,876,682 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03399:Scart2
|
APN |
7 |
139,827,869 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03052:Scart2
|
UTSW |
7 |
139,828,827 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4791001:Scart2
|
UTSW |
7 |
139,853,975 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0021:Scart2
|
UTSW |
7 |
139,876,310 (GRCm39) |
missense |
probably benign |
0.15 |
R0021:Scart2
|
UTSW |
7 |
139,876,310 (GRCm39) |
missense |
probably benign |
0.15 |
R0347:Scart2
|
UTSW |
7 |
139,877,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R0374:Scart2
|
UTSW |
7 |
139,828,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R0639:Scart2
|
UTSW |
7 |
139,827,872 (GRCm39) |
missense |
probably benign |
0.01 |
R0667:Scart2
|
UTSW |
7 |
139,841,450 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0789:Scart2
|
UTSW |
7 |
139,828,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R0959:Scart2
|
UTSW |
7 |
139,874,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R1316:Scart2
|
UTSW |
7 |
139,879,583 (GRCm39) |
missense |
probably benign |
0.09 |
R1764:Scart2
|
UTSW |
7 |
139,877,178 (GRCm39) |
missense |
probably benign |
0.00 |
R2247:Scart2
|
UTSW |
7 |
139,829,042 (GRCm39) |
missense |
probably null |
0.96 |
R2379:Scart2
|
UTSW |
7 |
139,879,682 (GRCm39) |
missense |
probably benign |
0.15 |
R4112:Scart2
|
UTSW |
7 |
139,878,281 (GRCm39) |
nonsense |
probably null |
|
R4114:Scart2
|
UTSW |
7 |
139,877,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R4346:Scart2
|
UTSW |
7 |
139,827,878 (GRCm39) |
missense |
probably damaging |
0.97 |
R4836:Scart2
|
UTSW |
7 |
139,879,021 (GRCm39) |
missense |
probably benign |
|
R4956:Scart2
|
UTSW |
7 |
139,878,275 (GRCm39) |
missense |
probably benign |
0.00 |
R5208:Scart2
|
UTSW |
7 |
139,877,949 (GRCm39) |
missense |
probably benign |
0.00 |
R5571:Scart2
|
UTSW |
7 |
139,829,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R5583:Scart2
|
UTSW |
7 |
139,876,739 (GRCm39) |
missense |
probably damaging |
1.00 |
R5645:Scart2
|
UTSW |
7 |
139,828,853 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6183:Scart2
|
UTSW |
7 |
139,875,947 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6995:Scart2
|
UTSW |
7 |
139,841,514 (GRCm39) |
missense |
probably benign |
|
R7436:Scart2
|
UTSW |
7 |
139,841,520 (GRCm39) |
missense |
probably benign |
|
R7621:Scart2
|
UTSW |
7 |
139,876,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R7662:Scart2
|
UTSW |
7 |
139,874,725 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7669:Scart2
|
UTSW |
7 |
139,876,234 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7686:Scart2
|
UTSW |
7 |
139,828,965 (GRCm39) |
missense |
probably benign |
0.00 |
R7985:Scart2
|
UTSW |
7 |
139,876,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R8330:Scart2
|
UTSW |
7 |
139,876,231 (GRCm39) |
nonsense |
probably null |
|
R8843:Scart2
|
UTSW |
7 |
139,828,913 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8888:Scart2
|
UTSW |
7 |
139,841,532 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8895:Scart2
|
UTSW |
7 |
139,841,532 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9044:Scart2
|
UTSW |
7 |
139,828,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R9142:Scart2
|
UTSW |
7 |
139,877,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R9152:Scart2
|
UTSW |
7 |
139,877,256 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9470:Scart2
|
UTSW |
7 |
139,827,345 (GRCm39) |
missense |
probably benign |
0.07 |
R9509:Scart2
|
UTSW |
7 |
139,879,644 (GRCm39) |
nonsense |
probably null |
|
R9522:Scart2
|
UTSW |
7 |
139,853,987 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9755:Scart2
|
UTSW |
7 |
139,841,544 (GRCm39) |
critical splice donor site |
probably null |
|
R9794:Scart2
|
UTSW |
7 |
139,874,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |