Incidental Mutation 'R0789:Scart2'
| ID |
76395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Scart2
|
| Ensembl Gene |
ENSMUSG00000054672 |
| Gene Name |
scavenger receptor family member expressed on T cells 2 |
| Synonyms |
5830411N06Rik |
| MMRRC Submission |
038969-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139827197-139880649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 139828133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Tryptophan
at position 114
(G114W)
|
| 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 damaging
Transcript: ENSMUST00000093984
AA Change: G114W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: G114W
| 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 damaging
Transcript: ENSMUST00000164583
AA Change: G114W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: G114W
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 91.7%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
T |
C |
5: 24,744,862 (GRCm39) |
T111A |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,005,283 (GRCm39) |
I526M |
possibly damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,341,895 (GRCm39) |
V335I |
probably damaging |
Het |
| Ccdc33 |
C |
T |
9: 58,024,497 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
T |
G |
19: 47,943,748 (GRCm39) |
I316S |
probably benign |
Het |
| Chpf |
A |
T |
1: 75,452,407 (GRCm39) |
L349Q |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,210 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Dnah1 |
T |
C |
14: 31,026,548 (GRCm39) |
I777V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,874,967 (GRCm39) |
V3966A |
probably damaging |
Het |
| Fbxo38 |
G |
A |
18: 62,648,570 (GRCm39) |
S656F |
possibly damaging |
Het |
| Fgf10 |
T |
A |
13: 118,925,741 (GRCm39) |
N173K |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,576,293 (GRCm39) |
E572K |
probably damaging |
Het |
| Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
| Glt8d2 |
T |
C |
10: 82,500,519 (GRCm39) |
N77S |
probably damaging |
Het |
| Grem1 |
C |
A |
2: 113,580,056 (GRCm39) |
K148N |
probably benign |
Het |
| Hat1 |
G |
A |
2: 71,252,088 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,293,603 (GRCm39) |
I3517F |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,838,051 (GRCm39) |
K253R |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,595,151 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,411,888 (GRCm39) |
Y66C |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,105,932 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,784,609 (GRCm39) |
M253V |
probably benign |
Het |
| Omt2b |
G |
T |
9: 78,235,447 (GRCm39) |
|
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,171 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,408,458 (GRCm39) |
P138H |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,226 (GRCm39) |
Y358C |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,562,366 (GRCm39) |
M1215T |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,275,852 (GRCm39) |
Y145H |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,984,891 (GRCm39) |
E927G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,611,318 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
C |
17: 3,247,112 (GRCm39) |
C812R |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,443,690 (GRCm39) |
V78A |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,852,202 (GRCm39) |
S241T |
probably benign |
Het |
| Tsga10 |
A |
T |
1: 37,840,868 (GRCm39) |
I446N |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,137,582 (GRCm39) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,683,082 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,612,225 (GRCm39) |
S864T |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,466,762 (GRCm39) |
Y91H |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,738 (GRCm39) |
V216A |
possibly damaging |
Het |
| Wdr17 |
A |
T |
8: 55,112,607 (GRCm39) |
|
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,016,615 (GRCm39) |
T799A |
possibly damaging |
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 |
|
IGL02193:Scart2
|
APN |
7 |
139,828,913 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTACGCTTGCGGAATGGTGG -3'
(R):5'- GGAGTCTTACGCATACTGGGAATGG -3'
Sequencing Primer
(F):5'- CCTTATGTGTGCAGACGGC -3'
(R):5'- CCAAGACAGAgaaagaaggaagg -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation