Incidental Mutation 'IGL03052:Scart2'
| ID |
392185 |
| 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 # |
IGL03052 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139827197-139880649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139828827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 162
(C162Y)
|
| 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: C162Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: C162Y
| 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: C162Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: C162Y
| 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 |
0.2840 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
T |
C |
4: 155,987,815 (GRCm39) |
F517S |
probably damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,881,894 (GRCm39) |
V267A |
probably benign |
Het |
| Asap1 |
A |
G |
15: 64,025,683 (GRCm39) |
|
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,793,788 (GRCm39) |
|
probably benign |
Het |
| Ccdc73 |
C |
A |
2: 104,782,281 (GRCm39) |
H212Q |
possibly damaging |
Het |
| Cct5 |
A |
T |
15: 31,597,633 (GRCm39) |
H85Q |
probably damaging |
Het |
| Cfap69 |
A |
C |
5: 5,639,206 (GRCm39) |
L238R |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,668,628 (GRCm39) |
T470S |
probably benign |
Het |
| Cnga4 |
T |
C |
7: 105,053,932 (GRCm39) |
S12P |
probably benign |
Het |
| Cyp2c29 |
C |
T |
19: 39,275,662 (GRCm39) |
T34M |
possibly damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,329 (GRCm39) |
D49G |
possibly damaging |
Het |
| Dab2ip |
A |
G |
2: 35,533,909 (GRCm39) |
Q45R |
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,858,240 (GRCm39) |
V164A |
probably damaging |
Het |
| Dnaaf8 |
A |
T |
16: 4,795,358 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah7c |
A |
G |
1: 46,671,309 (GRCm39) |
Y1566C |
probably damaging |
Het |
| Dnase1l2 |
T |
C |
17: 24,659,968 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
G |
T |
11: 34,182,853 (GRCm39) |
N1593K |
probably benign |
Het |
| Dpp6 |
G |
T |
5: 27,914,506 (GRCm39) |
M530I |
probably benign |
Het |
| Epm2a |
T |
C |
10: 11,332,974 (GRCm39) |
V269A |
possibly damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Fgf2 |
A |
G |
3: 37,403,161 (GRCm39) |
S55G |
probably benign |
Het |
| Frem3 |
C |
T |
8: 81,341,159 (GRCm39) |
P1151S |
probably damaging |
Het |
| Gm15737 |
T |
C |
6: 92,846,481 (GRCm39) |
|
probably benign |
Het |
| Gpi-ps |
T |
A |
8: 5,689,816 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin-ps6 |
T |
C |
7: 106,022,902 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxa3 |
G |
A |
6: 52,147,267 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
A |
G |
4: 92,079,287 (GRCm39) |
L178P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,281,188 (GRCm39) |
I3770V |
probably damaging |
Het |
| Mapk15 |
G |
T |
15: 75,865,731 (GRCm39) |
R8L |
probably benign |
Het |
| Mecom |
C |
T |
3: 30,015,112 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
C |
T |
10: 80,505,496 (GRCm39) |
R154H |
probably benign |
Het |
| Mrgprb3 |
A |
T |
7: 48,293,341 (GRCm39) |
V70E |
possibly damaging |
Het |
| Mtdh |
A |
G |
15: 34,140,876 (GRCm39) |
K570E |
possibly damaging |
Het |
| Myo5c |
G |
T |
9: 75,159,798 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,173,442 (GRCm39) |
|
probably benign |
Het |
| Or52m2 |
C |
T |
7: 102,263,656 (GRCm39) |
R180Q |
probably benign |
Het |
| Or5b124 |
T |
C |
19: 13,611,090 (GRCm39) |
I205T |
probably benign |
Het |
| Or7g25 |
A |
T |
9: 19,159,938 (GRCm39) |
Y252* |
probably null |
Het |
| Pcca |
A |
T |
14: 123,124,513 (GRCm39) |
M695L |
probably benign |
Het |
| Pcdha2 |
A |
T |
18: 37,074,670 (GRCm39) |
D767V |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,189 (GRCm39) |
D16N |
probably benign |
Het |
| Prr11 |
T |
C |
11: 86,994,478 (GRCm39) |
N56S |
possibly damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,966,645 (GRCm39) |
|
probably benign |
Het |
| Sacs |
G |
T |
14: 61,445,307 (GRCm39) |
G2451V |
probably damaging |
Het |
| Scarb1 |
G |
A |
5: 125,371,163 (GRCm39) |
A4V |
probably damaging |
Het |
| Sik3 |
C |
A |
9: 46,109,447 (GRCm39) |
T475K |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,594,311 (GRCm39) |
I59L |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,437,387 (GRCm39) |
G1382R |
probably damaging |
Het |
| Stx16 |
C |
A |
2: 173,934,231 (GRCm39) |
P145T |
probably benign |
Het |
| Tnrc18 |
G |
A |
5: 142,760,974 (GRCm39) |
A674V |
unknown |
Het |
| Uqcrq |
A |
G |
11: 53,321,476 (GRCm39) |
V14A |
possibly damaging |
Het |
| Vmn2r79 |
A |
T |
7: 86,652,799 (GRCm39) |
E497V |
probably benign |
Het |
| Vps8 |
T |
A |
16: 21,267,115 (GRCm39) |
I166K |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,302,361 (GRCm39) |
D1010G |
probably benign |
Het |
| Wnk1 |
T |
A |
6: 119,921,760 (GRCm39) |
|
probably benign |
Het |
| Zfand3 |
T |
A |
17: 30,279,798 (GRCm39) |
M29K |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGACAATGACTCAGGGTG -3'
(R):5'- GTGCATACAACCTGGGTGTAG -3'
Sequencing Primer
(F):5'- CAATGACTCAGGGTGGGGTAGTC -3'
(R):5'- TAGGTCAGAAGGTCACATTGCTCC -3'
|
| Posted On |
2016-06-09 |
Incidental Mutation