Incidental Mutation 'R4114:Scart2'
ID |
314552 |
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 |
040990-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4114 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
139827197-139880649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139877823 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 935
(V935A)
|
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: V819A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091520 Gene: ENSMUSG00000054672 AA Change: V819A
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: V935A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131905 Gene: ENSMUSG00000054672 AA Change: V935A
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
|
Meta Mutation Damage Score |
0.8383 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030468B19Rik |
T |
G |
11: 117,693,793 (GRCm39) |
S87A |
probably damaging |
Het |
Abca16 |
T |
C |
7: 120,126,290 (GRCm39) |
F1149L |
probably benign |
Het |
Abcf1 |
A |
T |
17: 36,270,146 (GRCm39) |
D637E |
probably benign |
Het |
Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
Cdh23 |
A |
G |
10: 60,256,819 (GRCm39) |
|
probably null |
Het |
Cep44 |
T |
C |
8: 56,998,457 (GRCm39) |
T74A |
probably benign |
Het |
Colq |
T |
A |
14: 31,279,824 (GRCm39) |
M1L |
probably benign |
Het |
Cym |
A |
T |
3: 107,127,065 (GRCm39) |
L30Q |
probably damaging |
Het |
Dpp6 |
T |
A |
5: 27,674,485 (GRCm39) |
|
probably null |
Het |
Gbe1 |
G |
T |
16: 70,280,715 (GRCm39) |
G372V |
possibly damaging |
Het |
Hdc |
T |
A |
2: 126,443,738 (GRCm39) |
M314L |
probably benign |
Het |
Ino80b |
A |
G |
6: 83,101,121 (GRCm39) |
S149P |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
Nlrp4a |
T |
G |
7: 26,149,365 (GRCm39) |
F324C |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,593 (GRCm39) |
|
probably null |
Het |
Or6c6c |
T |
C |
10: 129,541,668 (GRCm39) |
L307S |
probably benign |
Het |
Or8u9 |
A |
T |
2: 86,001,759 (GRCm39) |
V134D |
possibly damaging |
Het |
Pcdhb3 |
A |
G |
18: 37,435,093 (GRCm39) |
N353S |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,932,555 (GRCm39) |
|
probably null |
Het |
Pramel29 |
A |
T |
4: 143,936,173 (GRCm39) |
L29H |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,707,568 (GRCm39) |
R2823H |
probably damaging |
Het |
Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
Slc7a1 |
T |
C |
5: 148,278,867 (GRCm39) |
T302A |
probably damaging |
Het |
Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
Tek |
T |
C |
4: 94,737,920 (GRCm39) |
S657P |
probably damaging |
Het |
Trim5 |
A |
G |
7: 103,914,947 (GRCm39) |
L374P |
probably damaging |
Het |
Tspan18 |
C |
A |
2: 93,142,291 (GRCm39) |
|
probably null |
Het |
Vmn2r37 |
T |
A |
7: 9,213,092 (GRCm39) |
|
probably null |
Het |
Zbbx |
T |
C |
3: 75,046,905 (GRCm39) |
T121A |
probably benign |
Het |
Zfp35 |
A |
C |
18: 24,135,766 (GRCm39) |
I37L |
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 |
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 |
|
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'- TCATCAACTCTTAGCTGCCCAG -3'
(R):5'- ACACCAGCATCCTCCTTGTG -3'
Sequencing Primer
(F):5'- TAAACTTTCCGAGAACCCATTGG -3'
(R):5'- TCCTTGTGGGAGCAGTCTC -3'
|
Posted On |
2015-05-14 |