Incidental Mutation 'R9522:Scart2'
| ID |
718954 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9522 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140247284-140300736 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140274074 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 330
(I330N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093984]
[ENSMUST00000164583]
|
| AlphaFold |
B3F5L4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093984
|
| SMART Domains |
Protein: ENSMUSP00000091520
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 |
|
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 |
possibly damaging
Transcript: ENSMUST00000164583
AA Change: I330N
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: I330N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001C02Rik |
A |
T |
5: 30,466,123 (GRCm38) |
S5C |
probably damaging |
Het |
| Abca14 |
A |
T |
7: 120,248,145 (GRCm38) |
Y744F |
probably null |
Het |
| Adam17 |
C |
A |
12: 21,345,692 (GRCm38) |
V277F |
probably damaging |
Het |
| Adcy8 |
C |
T |
15: 64,920,711 (GRCm38) |
C132Y |
probably damaging |
Het |
| Adgrf3 |
G |
A |
5: 30,199,484 (GRCm38) |
P318L |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,672,082 (GRCm38) |
I212N |
probably damaging |
Het |
| Allc |
A |
T |
12: 28,570,654 (GRCm38) |
F33I |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,116,154 (GRCm38) |
T7A |
probably benign |
Het |
| Bbs4 |
A |
G |
9: 59,353,408 (GRCm38) |
|
probably null |
Het |
| Btbd1 |
G |
T |
7: 81,829,333 (GRCm38) |
P20H |
unknown |
Het |
| Cass4 |
A |
G |
2: 172,427,428 (GRCm38) |
I477V |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,750,322 (GRCm38) |
E362G |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,309,524 (GRCm38) |
P152L |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,484,622 (GRCm38) |
D896G |
probably benign |
Het |
| Crocc2 |
T |
C |
1: 93,189,707 (GRCm38) |
V305A |
probably benign |
Het |
| Cse1l |
G |
A |
2: 166,934,753 (GRCm38) |
V495I |
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,004,443 (GRCm38) |
Y36* |
probably null |
Het |
| Ctss |
T |
G |
3: 95,546,798 (GRCm38) |
D220E |
probably benign |
Het |
| Ctu1 |
T |
C |
7: 43,675,476 (GRCm38) |
L113P |
probably benign |
Het |
| Cyp2d40 |
G |
A |
15: 82,764,073 (GRCm38) |
A13V |
possibly damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,478,762 (GRCm38) |
|
probably benign |
Het |
| Dlgap4 |
G |
T |
2: 156,704,594 (GRCm38) |
R394L |
possibly damaging |
Het |
| Dpysl5 |
C |
A |
5: 30,778,055 (GRCm38) |
Y167* |
probably null |
Het |
| E4f1 |
C |
T |
17: 24,447,122 (GRCm38) |
G234D |
probably damaging |
Het |
| Eif3g |
T |
A |
9: 20,898,156 (GRCm38) |
T27S |
probably benign |
Het |
| Eif3g |
G |
T |
9: 20,898,155 (GRCm38) |
T27N |
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,256,794 (GRCm38) |
F343L |
possibly damaging |
Het |
| Fdft1 |
T |
C |
14: 63,159,148 (GRCm38) |
|
probably null |
Het |
| Hsd3b9 |
T |
C |
3: 98,446,467 (GRCm38) |
S239G |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,698,328 (GRCm38) |
Q1562K |
probably benign |
Het |
| Ilf3 |
G |
A |
9: 21,394,237 (GRCm38) |
V232I |
probably benign |
Het |
| Irx5 |
C |
T |
8: 92,360,631 (GRCm38) |
T397M |
possibly damaging |
Het |
| Kif16b |
A |
T |
2: 142,849,907 (GRCm38) |
V219D |
probably damaging |
Het |
| Klkb1 |
T |
C |
8: 45,277,015 (GRCm38) |
I276M |
probably benign |
Het |
| Large2 |
A |
G |
2: 92,369,921 (GRCm38) |
L115P |
probably damaging |
Het |
| Lrrc3b |
T |
C |
14: 15,358,423 (GRCm38) |
D61G |
probably benign |
Het |
| Map7 |
A |
G |
10: 20,229,896 (GRCm38) |
Y31C |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,880,441 (GRCm38) |
I462F |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,335,429 (GRCm38) |
T91S |
possibly damaging |
Het |
| Or5b98 |
T |
A |
19: 12,954,013 (GRCm38) |
C141* |
probably null |
Het |
| Or9m2 |
G |
A |
2: 87,990,831 (GRCm38) |
C240Y |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,632,820 (GRCm38) |
V770A |
possibly damaging |
Het |
| Ppfia4 |
G |
A |
1: 134,313,148 (GRCm38) |
A819V |
probably damaging |
Het |
| Qrfpr |
A |
G |
3: 36,182,527 (GRCm38) |
W242R |
probably damaging |
Het |
| Rgs3 |
A |
G |
4: 62,605,492 (GRCm38) |
I53M |
probably benign |
Het |
| Rif1 |
T |
C |
2: 52,081,299 (GRCm38) |
F263S |
probably damaging |
Het |
| Rpl22l1 |
T |
C |
3: 28,806,594 (GRCm38) |
|
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,730,414 (GRCm38) |
I3001F |
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,566,900 (GRCm38) |
I675T |
probably damaging |
Het |
| Sec16b |
C |
T |
1: 157,564,765 (GRCm38) |
S901L |
probably damaging |
Het |
| Setd5 |
T |
G |
6: 113,115,034 (GRCm38) |
I272S |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,909,512 (GRCm38) |
M536K |
probably damaging |
Het |
| Slfn3 |
T |
C |
11: 83,212,999 (GRCm38) |
V232A |
probably benign |
Het |
| Spata31d1b |
T |
C |
13: 59,716,966 (GRCm38) |
S643P |
probably benign |
Het |
| Tbc1d23 |
T |
C |
16: 57,198,744 (GRCm38) |
D251G |
probably benign |
Het |
| Tbccd1 |
T |
C |
16: 22,822,499 (GRCm38) |
E376G |
possibly damaging |
Het |
| Tmem184a |
G |
T |
5: 139,805,730 (GRCm38) |
P368T |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,667,460 (GRCm38) |
D362G |
probably damaging |
Het |
| Top6bl |
T |
C |
19: 4,627,246 (GRCm38) |
H612R |
probably benign |
Het |
| Ugt3a2 |
C |
A |
15: 9,370,123 (GRCm38) |
P451H |
probably damaging |
Het |
| Unc80 |
G |
A |
1: 66,638,062 (GRCm38) |
C2050Y |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,613,685 (GRCm38) |
G332E |
probably benign |
Het |
| Vmn1r179 |
T |
C |
7: 23,928,777 (GRCm38) |
V131A |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,633,150 (GRCm38) |
F110S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,282,379 (GRCm38) |
Y282C |
probably damaging |
Het |
| Zscan18 |
T |
C |
7: 12,769,370 (GRCm38) |
D754G |
possibly damaging |
Het |
|
| Other mutations in Scart2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Scart2
|
APN |
7 |
140,294,842 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01101:Scart2
|
APN |
7 |
140,296,104 (GRCm38) |
missense |
probably benign |
0.35 |
|
IGL01120:Scart2
|
APN |
7 |
140,296,559 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01958:Scart2
|
APN |
7 |
140,274,127 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02150:Scart2
|
APN |
7 |
140,297,859 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
IGL02193:Scart2
|
APN |
7 |
140,249,000 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02239:Scart2
|
APN |
7 |
140,295,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02335:Scart2
|
APN |
7 |
140,296,540 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02569:Scart2
|
APN |
7 |
140,298,362 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02993:Scart2
|
APN |
7 |
140,296,573 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL03261:Scart2
|
APN |
7 |
140,294,833 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03365:Scart2
|
APN |
7 |
140,296,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03399:Scart2
|
APN |
7 |
140,247,956 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03052:Scart2
|
UTSW |
7 |
140,248,914 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4791001:Scart2
|
UTSW |
7 |
140,274,062 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0021:Scart2
|
UTSW |
7 |
140,296,397 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0021:Scart2
|
UTSW |
7 |
140,296,397 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0347:Scart2
|
UTSW |
7 |
140,297,854 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0374:Scart2
|
UTSW |
7 |
140,248,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0639:Scart2
|
UTSW |
7 |
140,247,959 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0667:Scart2
|
UTSW |
7 |
140,261,537 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0789:Scart2
|
UTSW |
7 |
140,248,220 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0959:Scart2
|
UTSW |
7 |
140,294,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1316:Scart2
|
UTSW |
7 |
140,299,670 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1764:Scart2
|
UTSW |
7 |
140,297,265 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2247:Scart2
|
UTSW |
7 |
140,249,129 (GRCm38) |
missense |
probably null |
0.96 |
|
R2379:Scart2
|
UTSW |
7 |
140,299,769 (GRCm38) |
missense |
probably benign |
0.15 |
|
R4112:Scart2
|
UTSW |
7 |
140,298,368 (GRCm38) |
nonsense |
probably null |
|
|
R4114:Scart2
|
UTSW |
7 |
140,297,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4346:Scart2
|
UTSW |
7 |
140,247,965 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4836:Scart2
|
UTSW |
7 |
140,299,108 (GRCm38) |
missense |
probably benign |
|
|
R4956:Scart2
|
UTSW |
7 |
140,298,362 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5208:Scart2
|
UTSW |
7 |
140,298,036 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5571:Scart2
|
UTSW |
7 |
140,249,123 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5583:Scart2
|
UTSW |
7 |
140,296,826 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5645:Scart2
|
UTSW |
7 |
140,248,940 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6183:Scart2
|
UTSW |
7 |
140,296,034 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6995:Scart2
|
UTSW |
7 |
140,261,601 (GRCm38) |
missense |
probably benign |
|
|
R7436:Scart2
|
UTSW |
7 |
140,261,607 (GRCm38) |
missense |
probably benign |
|
|
R7621:Scart2
|
UTSW |
7 |
140,296,829 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7662:Scart2
|
UTSW |
7 |
140,294,812 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7669:Scart2
|
UTSW |
7 |
140,296,321 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7686:Scart2
|
UTSW |
7 |
140,249,052 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7985:Scart2
|
UTSW |
7 |
140,296,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8330:Scart2
|
UTSW |
7 |
140,296,318 (GRCm38) |
nonsense |
probably null |
|
|
R8843:Scart2
|
UTSW |
7 |
140,249,000 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8888:Scart2
|
UTSW |
7 |
140,261,619 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8895:Scart2
|
UTSW |
7 |
140,261,619 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9044:Scart2
|
UTSW |
7 |
140,248,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9142:Scart2
|
UTSW |
7 |
140,297,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9152:Scart2
|
UTSW |
7 |
140,297,343 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R9470:Scart2
|
UTSW |
7 |
140,247,432 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9509:Scart2
|
UTSW |
7 |
140,299,731 (GRCm38) |
nonsense |
probably null |
|
|
R9755:Scart2
|
UTSW |
7 |
140,261,631 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9794:Scart2
|
UTSW |
7 |
140,294,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAACAAGTCAGGCTGGC -3'
(R):5'- TGGCGACAACCGTGATGAAC -3'
Sequencing Primer
(F):5'- AGAGGTGCCAGTCCATGTG -3'
(R):5'- CGTGATGAACAGAGAAGATTCTATTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation