Incidental Mutation 'IGL02335:Scart2'
ID |
289689 |
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 # |
IGL02335
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
139827197-139880649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 139876453 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 526
(N526Y)
|
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 |
probably damaging
Transcript: ENSMUST00000093984
AA Change: N526Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000091520 Gene: ENSMUSG00000054672 AA Change: N526Y
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: N642Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000131905 Gene: ENSMUSG00000054672 AA Change: N642Y
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
C |
T |
9: 99,502,266 (GRCm39) |
T142I |
probably benign |
Het |
Aadacl2fm2 |
G |
A |
3: 59,651,026 (GRCm39) |
M49I |
probably benign |
Het |
Acaca |
A |
G |
11: 84,105,084 (GRCm39) |
T147A |
possibly damaging |
Het |
Agbl3 |
A |
G |
6: 34,776,685 (GRCm39) |
D397G |
probably damaging |
Het |
Ank1 |
C |
T |
8: 23,625,654 (GRCm39) |
T1597M |
possibly damaging |
Het |
Arl4d |
A |
G |
11: 101,557,755 (GRCm39) |
T94A |
possibly damaging |
Het |
Cd22 |
A |
G |
7: 30,575,559 (GRCm39) |
I161T |
probably damaging |
Het |
Clcn7 |
C |
T |
17: 25,365,821 (GRCm39) |
L166F |
probably benign |
Het |
Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
Col14a1 |
A |
T |
15: 55,327,165 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
C |
T |
9: 105,661,300 (GRCm39) |
V270M |
probably damaging |
Het |
Cox8b |
C |
A |
7: 140,478,990 (GRCm39) |
G42W |
probably damaging |
Het |
Csn1s1 |
A |
T |
5: 87,828,704 (GRCm39) |
D275V |
probably benign |
Het |
Cubn |
T |
A |
2: 13,432,645 (GRCm39) |
|
probably null |
Het |
Dctn2 |
T |
C |
10: 127,111,690 (GRCm39) |
|
probably benign |
Het |
Dnm1l |
A |
G |
16: 16,160,604 (GRCm39) |
|
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,164,988 (GRCm39) |
E687G |
probably benign |
Het |
Fbxw20 |
T |
C |
9: 109,052,377 (GRCm39) |
K249E |
possibly damaging |
Het |
Fhl2 |
C |
T |
1: 43,167,550 (GRCm39) |
W181* |
probably null |
Het |
G2e3 |
T |
A |
12: 51,415,941 (GRCm39) |
M559K |
probably benign |
Het |
Gdap1l1 |
A |
T |
2: 163,289,515 (GRCm39) |
Y160F |
possibly damaging |
Het |
Gm1110 |
T |
C |
9: 26,793,059 (GRCm39) |
I572M |
probably benign |
Het |
Gpatch2l |
T |
A |
12: 86,303,711 (GRCm39) |
|
probably benign |
Het |
Kcnq4 |
A |
G |
4: 120,573,051 (GRCm39) |
L250P |
probably damaging |
Het |
Lamc2 |
A |
T |
1: 153,041,962 (GRCm39) |
N57K |
probably benign |
Het |
Lingo1 |
A |
G |
9: 56,527,365 (GRCm39) |
L408P |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,954,131 (GRCm39) |
N804I |
possibly damaging |
Het |
Mroh7 |
A |
G |
4: 106,564,979 (GRCm39) |
L545S |
probably damaging |
Het |
Nup188 |
T |
A |
2: 30,213,648 (GRCm39) |
|
probably null |
Het |
Or10q1 |
A |
G |
19: 13,727,298 (GRCm39) |
D276G |
probably benign |
Het |
Or11a4 |
A |
G |
17: 37,536,217 (GRCm39) |
N67S |
probably damaging |
Het |
Or5b94 |
T |
C |
19: 12,651,602 (GRCm39) |
I11T |
probably damaging |
Het |
Pls1 |
A |
T |
9: 95,666,236 (GRCm39) |
N138K |
probably benign |
Het |
Prkch |
C |
A |
12: 73,749,286 (GRCm39) |
N345K |
probably benign |
Het |
Reps1 |
T |
C |
10: 17,931,865 (GRCm39) |
|
probably null |
Het |
Rrp7a |
T |
C |
15: 83,006,892 (GRCm39) |
E15G |
probably benign |
Het |
Scn1a |
T |
A |
2: 66,108,005 (GRCm39) |
T1557S |
possibly damaging |
Het |
Smtn |
T |
C |
11: 3,476,215 (GRCm39) |
E602G |
probably damaging |
Het |
Syvn1 |
T |
C |
19: 6,100,123 (GRCm39) |
|
probably null |
Het |
Tbxas1 |
A |
G |
6: 39,000,014 (GRCm39) |
D267G |
probably damaging |
Het |
Topbp1 |
A |
G |
9: 103,205,722 (GRCm39) |
N787D |
probably damaging |
Het |
Vmn2r22 |
T |
G |
6: 123,615,051 (GRCm39) |
S180R |
probably damaging |
Het |
Zfp345 |
T |
A |
2: 150,316,463 (GRCm39) |
E48D |
possibly damaging |
Het |
Zfp608 |
G |
A |
18: 55,030,509 (GRCm39) |
Q1144* |
probably null |
Het |
Zfp936 |
T |
A |
7: 42,836,691 (GRCm39) |
L34Q |
probably 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 |
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 |