Incidental Mutation 'IGL01120:Scart2'
ID |
51591 |
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 # |
IGL01120
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
139827197-139880649 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139876472 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 648
(L648P)
|
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: L532P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000091520 Gene: ENSMUSG00000054672 AA Change: L532P
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: L648P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000131905 Gene: ENSMUSG00000054672 AA Change: L648P
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd11 |
T |
A |
5: 135,040,329 (GRCm39) |
|
probably null |
Het |
Armcx5 |
T |
C |
X: 134,647,112 (GRCm39) |
I396T |
probably damaging |
Het |
Atm |
T |
C |
9: 53,372,422 (GRCm39) |
|
probably null |
Het |
Atp6v1c2 |
C |
T |
12: 17,358,294 (GRCm39) |
E88K |
probably damaging |
Het |
Caskin1 |
A |
G |
17: 24,724,343 (GRCm39) |
T1044A |
possibly damaging |
Het |
Cyp3a59 |
T |
A |
5: 146,039,671 (GRCm39) |
S315T |
probably damaging |
Het |
Dnaja1 |
T |
A |
4: 40,730,248 (GRCm39) |
I240N |
probably damaging |
Het |
Dnttip2 |
C |
T |
3: 122,072,386 (GRCm39) |
|
probably benign |
Het |
Elavl2 |
A |
T |
4: 91,152,309 (GRCm39) |
M136K |
probably damaging |
Het |
Eml5 |
C |
T |
12: 98,810,278 (GRCm39) |
V893I |
probably benign |
Het |
Fbxw4 |
G |
T |
19: 45,628,955 (GRCm39) |
A2E |
probably benign |
Het |
Flg2 |
T |
G |
3: 93,108,475 (GRCm39) |
S168A |
probably damaging |
Het |
Fndc3a |
G |
A |
14: 72,794,102 (GRCm39) |
T857I |
probably benign |
Het |
Gria1 |
A |
G |
11: 57,208,495 (GRCm39) |
K797E |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,336,162 (GRCm39) |
F1569S |
probably benign |
Het |
Kash5 |
G |
T |
7: 44,833,622 (GRCm39) |
S560Y |
probably damaging |
Het |
Lrrc45 |
T |
C |
11: 120,610,836 (GRCm39) |
V524A |
probably benign |
Het |
Myo19 |
T |
C |
11: 84,798,104 (GRCm39) |
L708P |
probably damaging |
Het |
Nup107 |
A |
G |
10: 117,606,146 (GRCm39) |
|
probably benign |
Het |
Or10ab4 |
T |
G |
7: 107,654,774 (GRCm39) |
M195R |
probably damaging |
Het |
Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
Palm |
A |
G |
10: 79,652,621 (GRCm39) |
|
probably benign |
Het |
Phf14 |
T |
C |
6: 11,962,739 (GRCm39) |
V462A |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,368,708 (GRCm39) |
|
probably null |
Het |
Pkp3 |
T |
A |
7: 140,664,095 (GRCm39) |
L424* |
probably null |
Het |
Prss29 |
A |
G |
17: 25,541,107 (GRCm39) |
K184E |
probably benign |
Het |
Prss3b |
A |
T |
6: 41,008,607 (GRCm39) |
Y236N |
probably damaging |
Het |
Ptcd1 |
C |
T |
5: 145,089,053 (GRCm39) |
|
probably benign |
Het |
Pth1r |
T |
C |
9: 110,556,198 (GRCm39) |
H225R |
probably damaging |
Het |
Rffl |
C |
T |
11: 82,696,848 (GRCm39) |
V332I |
probably damaging |
Het |
Rsl1 |
T |
C |
13: 67,325,230 (GRCm39) |
|
probably benign |
Het |
Scn9a |
T |
C |
2: 66,357,316 (GRCm39) |
K986R |
probably benign |
Het |
Slc22a15 |
A |
G |
3: 101,804,482 (GRCm39) |
L181P |
probably damaging |
Het |
Slc34a1 |
T |
A |
13: 55,556,884 (GRCm39) |
L241H |
probably damaging |
Het |
Slc4a4 |
C |
A |
5: 89,280,238 (GRCm39) |
H354Q |
probably damaging |
Het |
Sorcs2 |
T |
C |
5: 36,178,596 (GRCm39) |
E1131G |
probably damaging |
Het |
Ssc4d |
C |
A |
5: 135,996,817 (GRCm39) |
D95Y |
probably damaging |
Het |
Tcte1 |
A |
T |
17: 45,850,594 (GRCm39) |
D290V |
probably damaging |
Het |
Thyn1 |
T |
A |
9: 26,915,070 (GRCm39) |
M74K |
probably benign |
Het |
Tlr4 |
C |
T |
4: 66,758,662 (GRCm39) |
T485I |
probably benign |
Het |
Trem1 |
A |
G |
17: 48,544,277 (GRCm39) |
T101A |
probably benign |
Het |
Ttc17 |
T |
C |
2: 94,202,141 (GRCm39) |
E387G |
probably damaging |
Het |
Vmn2r103 |
A |
T |
17: 20,013,259 (GRCm39) |
T127S |
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 |
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 |
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 |
2013-06-21 |