Incidental Mutation 'R6183:Scart2'
ID |
487625 |
Institutional Source |
Beutler Lab
|
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 # |
R6183 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
139827197-139880649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139875947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 404
(T404A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091520
(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 |
possibly damaging
Transcript: ENSMUST00000093984
AA Change: T404A
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091520 Gene: ENSMUSG00000054672 AA Change: T404A
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: T520A
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000131905 Gene: ENSMUSG00000054672 AA Change: T520A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211749
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,968,718 (GRCm39) |
D352E |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,133,451 (GRCm39) |
I972L |
probably damaging |
Het |
Alg3 |
T |
C |
16: 20,429,391 (GRCm39) |
Y33C |
probably benign |
Het |
Atp1a3 |
C |
T |
7: 24,681,177 (GRCm39) |
G816D |
probably damaging |
Het |
Ccdc121 |
T |
C |
5: 31,645,320 (GRCm39) |
Y358H |
probably damaging |
Het |
Ces1g |
C |
T |
8: 94,057,867 (GRCm39) |
V145M |
possibly damaging |
Het |
Clip1 |
A |
G |
5: 123,780,667 (GRCm39) |
S339P |
probably damaging |
Het |
Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,182,875 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,583,726 (GRCm39) |
L3207Q |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 77,028,084 (GRCm39) |
T416A |
probably benign |
Het |
Ephb1 |
A |
T |
9: 102,072,524 (GRCm39) |
I85N |
probably damaging |
Het |
Etnppl |
T |
C |
3: 130,413,966 (GRCm39) |
C22R |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,432,949 (GRCm39) |
T11A |
probably benign |
Het |
Gm5458 |
C |
A |
14: 19,649,712 (GRCm39) |
V171L |
probably damaging |
Het |
Helb |
G |
T |
10: 119,948,903 (GRCm39) |
|
probably null |
Het |
Hnrnpll |
A |
G |
17: 80,357,305 (GRCm39) |
V237A |
possibly damaging |
Het |
Hps3 |
T |
C |
3: 20,063,032 (GRCm39) |
T712A |
probably benign |
Het |
Ibsp |
A |
G |
5: 104,453,896 (GRCm39) |
E78G |
possibly damaging |
Het |
Ighv1-62-2 |
G |
A |
12: 115,410,056 (GRCm39) |
A111V |
probably damaging |
Het |
Igkv4-63 |
G |
T |
6: 69,355,108 (GRCm39) |
Q58K |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,851,293 (GRCm39) |
Y226C |
probably damaging |
Het |
Khdc1a |
A |
T |
1: 21,420,332 (GRCm39) |
D30V |
possibly damaging |
Het |
Krtap5-5 |
C |
A |
7: 141,783,524 (GRCm39) |
C42F |
unknown |
Het |
Lmod3 |
T |
C |
6: 97,229,514 (GRCm39) |
N7D |
probably damaging |
Het |
Lvrn |
A |
G |
18: 46,983,752 (GRCm39) |
N165S |
probably benign |
Het |
Ms4a4c |
A |
G |
19: 11,403,593 (GRCm39) |
T192A |
possibly damaging |
Het |
Ncald |
A |
T |
15: 37,397,476 (GRCm39) |
V68D |
probably damaging |
Het |
Or4e5 |
T |
A |
14: 52,728,188 (GRCm39) |
T78S |
probably benign |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,315 (GRCm39) |
I162F |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,834 (GRCm39) |
T4A |
possibly damaging |
Het |
Qrich2 |
T |
A |
11: 116,348,955 (GRCm39) |
|
probably benign |
Het |
Rgl1 |
C |
T |
1: 152,462,321 (GRCm39) |
E60K |
possibly damaging |
Het |
Rtn1 |
A |
T |
12: 72,455,265 (GRCm39) |
W21R |
probably benign |
Het |
Spast |
A |
G |
17: 74,680,353 (GRCm39) |
I438M |
probably damaging |
Het |
Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Tas1r1 |
A |
G |
4: 152,116,998 (GRCm39) |
I212T |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,432,768 (GRCm39) |
N439D |
probably damaging |
Het |
Tjp2 |
C |
T |
19: 24,078,155 (GRCm39) |
A913T |
probably damaging |
Het |
Tnfrsf26 |
A |
G |
7: 143,165,494 (GRCm39) |
L47P |
probably damaging |
Het |
Unc13a |
A |
T |
8: 72,097,310 (GRCm39) |
S1195T |
probably damaging |
Het |
Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
Vmn1r54 |
T |
A |
6: 90,246,272 (GRCm39) |
M62K |
possibly damaging |
Het |
Vmn2r125 |
A |
T |
4: 156,702,364 (GRCm39) |
D50V |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,664,192 (GRCm39) |
N470K |
probably damaging |
Het |
Zc3h7a |
A |
T |
16: 10,965,234 (GRCm39) |
I633N |
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 |
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 |
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'- TTCCGACTGGTCAATGGCAG -3'
(R):5'- GACCTGACAGGGAGAAACTC -3'
Sequencing Primer
(F):5'- ACTTAGCAGATGCCACTG -3'
(R):5'- GAGGACCATCGCTCCGAAC -3'
|
Posted On |
2017-10-10 |