Incidental Mutation 'R4956:Scart2'
| ID |
444550 |
| 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 |
042553-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4956 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139827197-139880649 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139878275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1001
(I1001V)
|
| 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: I885V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: I885V
| 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: I1001V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: I1001V
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.1%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
A |
G |
16: 4,672,816 (GRCm39) |
K866E |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,931,879 (GRCm39) |
M49V |
probably benign |
Het |
| Atf7ip |
C |
T |
6: 136,583,808 (GRCm39) |
R1280C |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,643 (GRCm39) |
F583L |
probably benign |
Het |
| Atxn7l3b |
A |
G |
10: 112,764,501 (GRCm39) |
C43R |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,833,904 (GRCm39) |
V617A |
probably damaging |
Het |
| Bltp3a |
T |
A |
17: 28,108,958 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
T |
15: 88,614,316 (GRCm39) |
F193Y |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,420,221 (GRCm39) |
S141G |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,851,045 (GRCm39) |
F7Y |
probably damaging |
Het |
| Cpn2 |
T |
A |
16: 30,079,233 (GRCm39) |
Q156L |
possibly damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,216,354 (GRCm39) |
D416E |
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Eif2s3y |
A |
G |
Y: 1,023,407 (GRCm39) |
T430A |
possibly damaging |
Het |
| Enah |
G |
A |
1: 181,745,854 (GRCm39) |
T401I |
probably damaging |
Het |
| Esp38 |
T |
G |
17: 40,266,053 (GRCm39) |
I54R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,086,028 (GRCm39) |
R152W |
probably benign |
Het |
| Flvcr1 |
A |
G |
1: 190,758,383 (GRCm39) |
|
probably benign |
Het |
| Fzd9 |
G |
A |
5: 135,278,796 (GRCm39) |
A363V |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,869,987 (GRCm39) |
I451N |
probably benign |
Het |
| Hmg20a |
A |
G |
9: 56,388,948 (GRCm39) |
T172A |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,742,885 (GRCm39) |
T1695M |
probably damaging |
Het |
| Ipo13 |
G |
A |
4: 117,758,768 (GRCm39) |
A699V |
probably benign |
Het |
| Ipo9 |
A |
G |
1: 135,331,960 (GRCm39) |
|
probably null |
Het |
| Klra17 |
A |
G |
6: 129,850,279 (GRCm39) |
L57P |
probably damaging |
Het |
| Map3k8 |
A |
C |
18: 4,339,530 (GRCm39) |
D280E |
probably benign |
Het |
| Mycbp2 |
A |
G |
14: 103,524,675 (GRCm39) |
F662L |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,231,431 (GRCm39) |
H792L |
probably damaging |
Het |
| Nlrx1 |
T |
A |
9: 44,173,909 (GRCm39) |
K431* |
probably null |
Het |
| Nos1 |
A |
G |
5: 118,085,575 (GRCm39) |
N1301S |
probably benign |
Het |
| Obp2b |
A |
G |
2: 25,627,087 (GRCm39) |
T7A |
probably damaging |
Het |
| Odc1 |
T |
C |
12: 17,597,958 (GRCm39) |
I95T |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4c127 |
G |
A |
2: 89,833,187 (GRCm39) |
V146M |
probably benign |
Het |
| Or5b97 |
C |
T |
19: 12,878,963 (GRCm39) |
M60I |
probably damaging |
Het |
| Or6ae1 |
A |
G |
7: 139,741,993 (GRCm39) |
I290T |
possibly damaging |
Het |
| Or6c1 |
A |
T |
10: 129,517,968 (GRCm39) |
F213L |
probably benign |
Het |
| Pcif1 |
A |
T |
2: 164,731,610 (GRCm39) |
Q521L |
probably damaging |
Het |
| Plekhg2 |
A |
C |
7: 28,067,780 (GRCm39) |
L223R |
probably damaging |
Het |
| Plod3 |
A |
G |
5: 137,018,772 (GRCm39) |
N270D |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,636 (GRCm39) |
L417* |
probably null |
Het |
| Psmd6 |
C |
T |
14: 14,116,166 (GRCm38) |
V141I |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,225,121 (GRCm39) |
Y111* |
probably null |
Het |
| Rell2 |
G |
A |
18: 38,090,758 (GRCm39) |
R145H |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,745,426 (GRCm39) |
K614R |
probably damaging |
Het |
| Shbg |
C |
T |
11: 69,508,045 (GRCm39) |
E107K |
probably damaging |
Het |
| Slc30a3 |
G |
A |
5: 31,244,247 (GRCm39) |
P345L |
possibly damaging |
Het |
| Tchp |
A |
C |
5: 114,857,681 (GRCm39) |
E391D |
probably damaging |
Het |
| Timeless |
A |
G |
10: 128,077,520 (GRCm39) |
D200G |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,700,601 (GRCm39) |
T144A |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vgll3 |
T |
C |
16: 65,624,820 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn2r71 |
C |
T |
7: 85,268,436 (GRCm39) |
T213I |
probably benign |
Het |
| Wtap |
T |
C |
17: 13,186,423 (GRCm39) |
T375A |
probably benign |
Het |
| Yipf2 |
T |
G |
9: 21,503,204 (GRCm39) |
T88P |
probably damaging |
Het |
| Zfp382 |
T |
A |
7: 29,830,979 (GRCm39) |
D89E |
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,524,209 (GRCm39) |
|
probably benign |
Het |
| Zpr1 |
C |
T |
9: 46,185,961 (GRCm39) |
T144I |
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 |
|
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 |
|
|
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'- TTGAGCACAGGACTCCAGTG -3'
(R):5'- GCTCATGACCGGGTAGTTTG -3'
Sequencing Primer
(F):5'- AGCACAGGACTCCAGTGTTCAG -3'
(R):5'- GTTTTCCCATTCAGCAGGCACAG -3'
|
| Posted On |
2016-11-16 |
Incidental Mutation