Incidental Mutation 'R5208:Scart2'
| ID |
402156 |
| 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 |
042783-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5208 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139827197-139880649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 139877949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 977
(A977D)
|
| 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: A861D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: A861D
| 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: A977D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: A977D
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,344,398 (GRCm39) |
N58I |
probably benign |
Het |
| Adgra3 |
T |
C |
5: 50,168,857 (GRCm39) |
D163G |
probably damaging |
Het |
| Alcam |
C |
A |
16: 52,115,411 (GRCm39) |
E236* |
probably null |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Aplf |
G |
T |
6: 87,619,008 (GRCm39) |
|
probably null |
Het |
| Arl4a |
A |
T |
12: 40,086,744 (GRCm39) |
M1K |
probably null |
Het |
| Asic4 |
A |
G |
1: 75,427,870 (GRCm39) |
D132G |
probably damaging |
Het |
| Bbs12 |
T |
C |
3: 37,374,422 (GRCm39) |
I290T |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,008,865 (GRCm39) |
S290P |
probably benign |
Het |
| Bmp6 |
G |
A |
13: 38,653,673 (GRCm39) |
A247T |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,457,711 (GRCm38) |
S1057P |
possibly damaging |
Het |
| Caprin1 |
A |
C |
2: 103,599,778 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
G |
A |
19: 6,371,750 (GRCm39) |
R1343K |
probably benign |
Het |
| Cdk18 |
A |
T |
1: 132,045,218 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,403,243 (GRCm39) |
|
probably null |
Het |
| Cfhr1 |
A |
T |
1: 139,484,068 (GRCm39) |
|
probably null |
Het |
| Chn2 |
A |
T |
6: 54,272,786 (GRCm39) |
I201F |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,673,129 (GRCm39) |
D175G |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,622,286 (GRCm39) |
R1006L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnah3 |
C |
G |
7: 119,631,861 (GRCm39) |
D1365H |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,644,343 (GRCm39) |
Y372* |
probably null |
Het |
| Eftud2 |
G |
A |
11: 102,732,011 (GRCm39) |
P768S |
probably damaging |
Het |
| Ehmt1 |
A |
C |
2: 24,691,545 (GRCm39) |
S1170A |
probably benign |
Het |
| Gdpd4 |
A |
C |
7: 97,664,118 (GRCm39) |
K572Q |
probably benign |
Het |
| Gm7356 |
T |
C |
17: 14,221,456 (GRCm39) |
E191G |
probably damaging |
Het |
| Gm8674 |
A |
T |
13: 50,055,957 (GRCm39) |
|
noncoding transcript |
Het |
| Gulp1 |
T |
G |
1: 44,820,199 (GRCm39) |
H235Q |
probably benign |
Het |
| Hormad1 |
T |
C |
3: 95,485,418 (GRCm39) |
V202A |
possibly damaging |
Het |
| Inpp5b |
G |
A |
4: 124,645,110 (GRCm39) |
D179N |
possibly damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,905,069 (GRCm39) |
Y194F |
possibly damaging |
Het |
| Lars1 |
A |
C |
18: 42,350,622 (GRCm39) |
S896A |
probably benign |
Het |
| Lonp1 |
A |
G |
17: 56,924,793 (GRCm39) |
V538A |
probably damaging |
Het |
| Map3k14 |
A |
T |
11: 103,129,972 (GRCm39) |
L315Q |
probably damaging |
Het |
| Met |
T |
A |
6: 17,526,422 (GRCm39) |
Y500* |
probably null |
Het |
| Mga |
T |
G |
2: 119,778,462 (GRCm39) |
I2093M |
possibly damaging |
Het |
| Mpl |
T |
G |
4: 118,313,078 (GRCm39) |
I152L |
probably benign |
Het |
| Mthfsd |
G |
A |
8: 121,835,058 (GRCm39) |
|
probably benign |
Het |
| Mup4 |
A |
G |
4: 59,958,119 (GRCm39) |
F150L |
probably damaging |
Het |
| Mybph |
T |
A |
1: 134,121,273 (GRCm39) |
V11D |
probably benign |
Het |
| Or4f54 |
A |
T |
2: 111,122,946 (GRCm39) |
E111V |
probably damaging |
Het |
| Or52n2c |
A |
G |
7: 104,574,933 (GRCm39) |
F13L |
probably benign |
Het |
| Or5ak20 |
T |
A |
2: 85,184,142 (GRCm39) |
I43F |
probably benign |
Het |
| Pde4a |
T |
C |
9: 21,114,854 (GRCm39) |
|
probably null |
Het |
| Pex2 |
C |
T |
3: 5,626,428 (GRCm39) |
R127H |
probably benign |
Het |
| Pgap3 |
A |
G |
11: 98,288,874 (GRCm39) |
W94R |
probably damaging |
Het |
| Prl4a1 |
T |
C |
13: 28,202,467 (GRCm39) |
V14A |
probably benign |
Het |
| Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,822,548 (GRCm39) |
Y209C |
probably damaging |
Het |
| Sema4c |
T |
A |
1: 36,589,407 (GRCm39) |
D573V |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,056,379 (GRCm39) |
I2192F |
possibly damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Sp4 |
A |
G |
12: 118,263,281 (GRCm39) |
L255P |
probably damaging |
Het |
| Spaca7 |
A |
G |
8: 12,636,456 (GRCm39) |
Y94C |
probably damaging |
Het |
| Stt3a |
T |
G |
9: 36,657,891 (GRCm39) |
I390L |
possibly damaging |
Het |
| Tars2 |
A |
G |
3: 95,654,905 (GRCm39) |
W128R |
probably damaging |
Het |
| Tll1 |
G |
A |
8: 64,504,527 (GRCm39) |
T623M |
probably damaging |
Het |
| Tmem129 |
A |
T |
5: 33,812,850 (GRCm39) |
V166E |
probably damaging |
Het |
| Tmem200a |
T |
A |
10: 25,870,051 (GRCm39) |
I73F |
probably benign |
Het |
| Tnks1bp1 |
T |
C |
2: 84,900,976 (GRCm39) |
M1561T |
probably damaging |
Het |
| Zfat |
A |
T |
15: 68,052,570 (GRCm39) |
I401N |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,610,027 (GRCm39) |
V1153E |
probably benign |
Het |
| Zwilch |
T |
C |
9: 64,060,205 (GRCm39) |
I354V |
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 |
|
|
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 |
|
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'- ACAGTGTGTGACGATTCCTG -3'
(R):5'- GCAGGAGCTATGCAGAACTG -3'
Sequencing Primer
(F):5'- ACGATTCCTGGGATCTGGC -3'
(R):5'- TGGAACCCTGAACACTGGAGTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation