Incidental Mutation 'R5367:Sart3'
ID |
429404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sart3
|
Ensembl Gene |
ENSMUSG00000018974 |
Gene Name |
squamous cell carcinoma antigen recognized by T cells 3 |
Synonyms |
|
MMRRC Submission |
042945-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.970)
|
Stock # |
R5367 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
113880505-113910461 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 113897277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019118]
[ENSMUST00000197041]
|
AlphaFold |
Q9JLI8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000019118
|
SMART Domains |
Protein: ENSMUSP00000019118 Gene: ENSMUSG00000018974
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
low complexity region
|
11 |
33 |
N/A |
INTRINSIC |
low complexity region
|
42 |
50 |
N/A |
INTRINSIC |
low complexity region
|
65 |
93 |
N/A |
INTRINSIC |
HAT
|
127 |
159 |
1.76e1 |
SMART |
HAT
|
165 |
196 |
4.82e-1 |
SMART |
HAT
|
202 |
238 |
1.53e-3 |
SMART |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
HAT
|
325 |
357 |
1.78e-4 |
SMART |
HAT
|
360 |
392 |
7.83e-1 |
SMART |
HAT
|
395 |
431 |
7.56e0 |
SMART |
HAT
|
488 |
521 |
7.31e-1 |
SMART |
coiled coil region
|
554 |
619 |
N/A |
INTRINSIC |
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
RRM
|
705 |
778 |
1.87e-14 |
SMART |
RRM
|
802 |
874 |
3.2e-22 |
SMART |
Pfam:LSM_int_assoc
|
877 |
937 |
3.1e-28 |
PFAM |
Pfam:Lsm_interact
|
944 |
961 |
2e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196738
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196778
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197041
|
SMART Domains |
Protein: ENSMUSP00000143778 Gene: ENSMUSG00000018974
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
low complexity region
|
11 |
33 |
N/A |
INTRINSIC |
low complexity region
|
42 |
50 |
N/A |
INTRINSIC |
low complexity region
|
65 |
93 |
N/A |
INTRINSIC |
HAT
|
127 |
159 |
1.76e1 |
SMART |
HAT
|
165 |
196 |
4.82e-1 |
SMART |
HAT
|
202 |
238 |
1.53e-3 |
SMART |
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
Blast:HAT
|
292 |
323 |
1e-5 |
BLAST |
HAT
|
325 |
357 |
1.33e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198097
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198556
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
97% (70/72) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a conditional allele activated in hematopoietic cells exhibit protection against the effects of 5-FU treatment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
C |
3: 59,947,057 (GRCm39) |
Y252H |
probably damaging |
Het |
Aadat |
T |
C |
8: 60,979,630 (GRCm39) |
I164T |
probably damaging |
Het |
Adam11 |
A |
G |
11: 102,664,479 (GRCm39) |
H389R |
probably benign |
Het |
Alkbh5 |
G |
T |
11: 60,429,529 (GRCm39) |
R94L |
possibly damaging |
Het |
Ampd3 |
A |
G |
7: 110,407,078 (GRCm39) |
K644R |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,722,461 (GRCm39) |
L328H |
probably damaging |
Het |
Ankrd55 |
G |
T |
13: 112,455,036 (GRCm39) |
V45F |
probably damaging |
Het |
Apol7c |
C |
A |
15: 77,410,347 (GRCm39) |
V200F |
probably damaging |
Het |
Arap1 |
G |
A |
7: 101,058,337 (GRCm39) |
V721M |
probably damaging |
Het |
Arhgef40 |
A |
G |
14: 52,227,156 (GRCm39) |
D400G |
probably damaging |
Het |
Bmp4 |
G |
T |
14: 46,621,950 (GRCm39) |
T198K |
possibly damaging |
Het |
Cblb |
T |
A |
16: 52,025,016 (GRCm39) |
F970L |
probably damaging |
Het |
Celf5 |
A |
G |
10: 81,303,098 (GRCm39) |
S148P |
probably damaging |
Het |
Ckap5 |
T |
A |
2: 91,445,486 (GRCm39) |
C1708S |
possibly damaging |
Het |
Clec2l |
T |
C |
6: 38,654,459 (GRCm39) |
F147L |
possibly damaging |
Het |
Cnksr1 |
T |
A |
4: 133,957,525 (GRCm39) |
I465F |
possibly damaging |
Het |
Coq10b |
A |
G |
1: 55,092,143 (GRCm39) |
D37G |
probably benign |
Het |
Cpq |
T |
G |
15: 33,213,250 (GRCm39) |
Y90D |
possibly damaging |
Het |
Depdc1a |
G |
A |
3: 159,229,591 (GRCm39) |
|
probably null |
Het |
Eif2ak4 |
T |
A |
2: 118,266,639 (GRCm39) |
|
probably null |
Het |
Eif3e |
C |
T |
15: 43,115,700 (GRCm39) |
M355I |
probably damaging |
Het |
Eif4e1b |
G |
A |
13: 54,934,757 (GRCm39) |
V181M |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,794,680 (GRCm39) |
E113G |
probably damaging |
Het |
Fads2 |
A |
G |
19: 10,041,649 (GRCm39) |
L438P |
probably damaging |
Het |
Fbl |
T |
A |
7: 27,874,475 (GRCm39) |
V67E |
probably damaging |
Het |
Gde1 |
A |
G |
7: 118,304,629 (GRCm39) |
L82P |
probably damaging |
Het |
Gm10226 |
T |
C |
17: 21,910,884 (GRCm39) |
S40P |
possibly damaging |
Het |
Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
Gm1988 |
T |
A |
7: 38,823,204 (GRCm39) |
|
noncoding transcript |
Het |
Gm6728 |
T |
C |
6: 136,463,502 (GRCm39) |
|
noncoding transcript |
Het |
Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
Jag1 |
T |
A |
2: 136,927,014 (GRCm39) |
Q915L |
possibly damaging |
Het |
Kdm5d |
G |
A |
Y: 941,645 (GRCm39) |
G1282D |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,384,875 (GRCm39) |
L407Q |
probably damaging |
Het |
Mlf1 |
A |
T |
3: 67,301,296 (GRCm39) |
H118L |
probably damaging |
Het |
Mmp10 |
G |
T |
9: 7,505,603 (GRCm39) |
C289F |
probably damaging |
Het |
Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
Myo9a |
T |
A |
9: 59,807,732 (GRCm39) |
S2029T |
probably damaging |
Het |
Nap1l4 |
A |
C |
7: 143,088,035 (GRCm39) |
S174R |
probably damaging |
Het |
Nos3 |
A |
G |
5: 24,576,942 (GRCm39) |
T490A |
probably benign |
Het |
Or12d2 |
T |
A |
17: 37,625,147 (GRCm39) |
I43F |
probably damaging |
Het |
Or4k35 |
T |
A |
2: 111,100,235 (GRCm39) |
Q159L |
possibly damaging |
Het |
Or5a1 |
A |
G |
19: 12,097,800 (GRCm39) |
V80A |
possibly damaging |
Het |
Or5b106 |
G |
A |
19: 13,123,865 (GRCm39) |
L53F |
probably damaging |
Het |
Or5g23 |
A |
T |
2: 85,438,718 (GRCm39) |
C179S |
probably damaging |
Het |
Pdlim7 |
G |
C |
13: 55,653,975 (GRCm39) |
T214S |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,197,802 (GRCm39) |
E1578G |
probably damaging |
Het |
Ptcd1 |
T |
A |
5: 145,084,715 (GRCm39) |
|
probably benign |
Het |
Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
Scrn2 |
A |
G |
11: 96,923,953 (GRCm39) |
D279G |
possibly damaging |
Het |
Sh2d3c |
A |
G |
2: 32,635,914 (GRCm39) |
D94G |
probably damaging |
Het |
Slc12a4 |
A |
T |
8: 106,678,266 (GRCm39) |
V309E |
probably damaging |
Het |
Slc1a6 |
A |
G |
10: 78,623,637 (GRCm39) |
E12G |
probably damaging |
Het |
Smarcal1 |
T |
C |
1: 72,635,135 (GRCm39) |
|
probably null |
Het |
Smr3a |
T |
C |
5: 88,155,897 (GRCm39) |
|
probably benign |
Het |
Stox2 |
A |
G |
8: 47,656,260 (GRCm39) |
I72T |
probably damaging |
Het |
Tmem234 |
G |
T |
4: 129,494,500 (GRCm39) |
|
probably benign |
Het |
Tmem35b |
A |
G |
4: 127,018,266 (GRCm39) |
Q20R |
possibly damaging |
Het |
Tom1l2 |
G |
A |
11: 60,132,634 (GRCm39) |
H430Y |
probably benign |
Het |
Tpo |
T |
C |
12: 30,153,289 (GRCm39) |
Y355C |
probably damaging |
Het |
Tulp2 |
A |
G |
7: 45,166,075 (GRCm39) |
N122S |
possibly damaging |
Het |
Washc2 |
T |
A |
6: 116,236,111 (GRCm39) |
L1194H |
probably damaging |
Het |
Xbp1 |
T |
C |
11: 5,471,910 (GRCm39) |
V12A |
probably benign |
Het |
|
Other mutations in Sart3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Sart3
|
APN |
5 |
113,884,730 (GRCm39) |
missense |
probably benign |
|
IGL01309:Sart3
|
APN |
5 |
113,897,311 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01844:Sart3
|
APN |
5 |
113,883,709 (GRCm39) |
nonsense |
probably null |
|
IGL02147:Sart3
|
APN |
5 |
113,901,004 (GRCm39) |
splice site |
probably benign |
|
R0048:Sart3
|
UTSW |
5 |
113,893,458 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0048:Sart3
|
UTSW |
5 |
113,893,458 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0268:Sart3
|
UTSW |
5 |
113,890,460 (GRCm39) |
missense |
probably damaging |
0.99 |
R1703:Sart3
|
UTSW |
5 |
113,890,280 (GRCm39) |
missense |
probably benign |
0.22 |
R1704:Sart3
|
UTSW |
5 |
113,884,068 (GRCm39) |
missense |
probably benign |
0.14 |
R1998:Sart3
|
UTSW |
5 |
113,885,982 (GRCm39) |
critical splice donor site |
probably null |
|
R2142:Sart3
|
UTSW |
5 |
113,902,154 (GRCm39) |
missense |
probably damaging |
0.97 |
R3893:Sart3
|
UTSW |
5 |
113,884,697 (GRCm39) |
missense |
probably benign |
0.00 |
R3895:Sart3
|
UTSW |
5 |
113,890,488 (GRCm39) |
nonsense |
probably null |
|
R4231:Sart3
|
UTSW |
5 |
113,909,479 (GRCm39) |
missense |
probably benign |
|
R5488:Sart3
|
UTSW |
5 |
113,909,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R5489:Sart3
|
UTSW |
5 |
113,909,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R5668:Sart3
|
UTSW |
5 |
113,883,217 (GRCm39) |
splice site |
probably null |
|
R5903:Sart3
|
UTSW |
5 |
113,889,300 (GRCm39) |
missense |
probably damaging |
0.98 |
R6046:Sart3
|
UTSW |
5 |
113,893,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R6173:Sart3
|
UTSW |
5 |
113,881,267 (GRCm39) |
missense |
probably benign |
0.11 |
R6215:Sart3
|
UTSW |
5 |
113,881,267 (GRCm39) |
missense |
probably benign |
0.11 |
R6216:Sart3
|
UTSW |
5 |
113,881,267 (GRCm39) |
missense |
probably benign |
0.11 |
R6221:Sart3
|
UTSW |
5 |
113,881,267 (GRCm39) |
missense |
probably benign |
0.11 |
R6222:Sart3
|
UTSW |
5 |
113,881,267 (GRCm39) |
missense |
probably benign |
0.11 |
R6320:Sart3
|
UTSW |
5 |
113,889,301 (GRCm39) |
missense |
probably benign |
0.34 |
R6824:Sart3
|
UTSW |
5 |
113,882,600 (GRCm39) |
splice site |
probably null |
|
R6978:Sart3
|
UTSW |
5 |
113,883,807 (GRCm39) |
missense |
probably damaging |
0.97 |
R7062:Sart3
|
UTSW |
5 |
113,883,663 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7162:Sart3
|
UTSW |
5 |
113,900,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R7165:Sart3
|
UTSW |
5 |
113,884,056 (GRCm39) |
missense |
probably benign |
0.01 |
R7222:Sart3
|
UTSW |
5 |
113,884,717 (GRCm39) |
missense |
probably benign |
0.01 |
R7235:Sart3
|
UTSW |
5 |
113,891,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R7237:Sart3
|
UTSW |
5 |
113,892,307 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7340:Sart3
|
UTSW |
5 |
113,882,728 (GRCm39) |
missense |
probably benign |
0.02 |
R7580:Sart3
|
UTSW |
5 |
113,892,440 (GRCm39) |
splice site |
probably null |
|
R7637:Sart3
|
UTSW |
5 |
113,909,413 (GRCm39) |
missense |
probably benign |
0.14 |
R8146:Sart3
|
UTSW |
5 |
113,886,018 (GRCm39) |
missense |
probably damaging |
0.98 |
R8241:Sart3
|
UTSW |
5 |
113,884,029 (GRCm39) |
missense |
probably benign |
0.32 |
R8708:Sart3
|
UTSW |
5 |
113,882,728 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9089:Sart3
|
UTSW |
5 |
113,891,756 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9106:Sart3
|
UTSW |
5 |
113,892,410 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9312:Sart3
|
UTSW |
5 |
113,900,935 (GRCm39) |
missense |
possibly damaging |
0.81 |
X0058:Sart3
|
UTSW |
5 |
113,883,989 (GRCm39) |
missense |
probably benign |
|
Z1176:Sart3
|
UTSW |
5 |
113,883,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGAAACATGGTCTCTCGCC -3'
(R):5'- TCCTGTGTGACGTGGCATAG -3'
Sequencing Primer
(F):5'- CCGCCTCTGAGCCTAATAACTCTTAG -3'
(R):5'- GACGTGGCATAGACTCATTTTCAG -3'
|
Posted On |
2016-09-06 |