Incidental Mutation 'R6173:Sart3'
ID |
489135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sart3
|
Ensembl Gene |
ENSMUSG00000018974 |
Gene Name |
squamous cell carcinoma antigen recognized by T cells 3 |
Synonyms |
|
MMRRC Submission |
044316-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R6173 (G1)
|
Quality Score |
189.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
113880505-113910461 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 113881267 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 938
(A938T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019118]
[ENSMUST00000065698]
[ENSMUST00000197041]
|
AlphaFold |
Q9JLI8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019118
AA Change: A938T
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000019118 Gene: ENSMUSG00000018974 AA Change: A938T
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 |
probably benign
Transcript: ENSMUST00000065698
|
SMART Domains |
Protein: ENSMUSP00000071719 Gene: ENSMUSG00000053334
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
SCOP:d1elwa_
|
105 |
180 |
2e-8 |
SMART |
Pfam:Fic
|
284 |
381 |
1.8e-29 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196738
|
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: ENSMUST00000198246
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
96% (52/54) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
T |
C |
3: 126,846,395 (GRCm39) |
D219G |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,906,965 (GRCm39) |
I18N |
probably damaging |
Het |
Baz1b |
T |
C |
5: 135,271,361 (GRCm39) |
S1315P |
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,646,523 (GRCm39) |
C432* |
probably null |
Het |
Bend3 |
A |
G |
10: 43,385,864 (GRCm39) |
T86A |
probably benign |
Het |
Cadm2 |
C |
T |
16: 66,679,729 (GRCm39) |
V35I |
probably benign |
Het |
Ch25h |
A |
G |
19: 34,451,896 (GRCm39) |
S211P |
probably damaging |
Het |
Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
Chia1 |
T |
C |
3: 106,036,338 (GRCm39) |
|
probably null |
Het |
Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
Dazl |
A |
T |
17: 50,594,599 (GRCm39) |
M152K |
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,930,772 (GRCm39) |
S3748P |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,212,388 (GRCm39) |
K1251R |
probably null |
Het |
Esr1 |
T |
C |
10: 4,696,760 (GRCm39) |
V203A |
probably damaging |
Het |
F830045P16Rik |
A |
G |
2: 129,305,588 (GRCm39) |
I262T |
probably damaging |
Het |
Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
Fshb |
T |
C |
2: 106,887,638 (GRCm39) |
E127G |
possibly damaging |
Het |
Galk2 |
A |
G |
2: 125,701,137 (GRCm39) |
|
probably benign |
Het |
Gid4 |
A |
G |
11: 60,323,241 (GRCm39) |
D111G |
probably damaging |
Het |
Gm14412 |
G |
A |
2: 177,006,330 (GRCm39) |
P522S |
probably damaging |
Het |
Iqank1 |
A |
G |
15: 75,917,237 (GRCm39) |
E290G |
probably damaging |
Het |
Mfap4 |
A |
G |
11: 61,376,245 (GRCm39) |
|
probably null |
Het |
Mfsd2a |
A |
G |
4: 122,845,039 (GRCm39) |
V224A |
probably benign |
Het |
Mocos |
A |
T |
18: 24,809,639 (GRCm39) |
Y414F |
probably benign |
Het |
Mrto4 |
T |
C |
4: 139,077,755 (GRCm39) |
I27V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,554,958 (GRCm39) |
|
probably benign |
Het |
Mug1 |
T |
A |
6: 121,840,752 (GRCm39) |
I534N |
probably damaging |
Het |
Mup20 |
A |
T |
4: 61,972,267 (GRCm39) |
L7Q |
unknown |
Het |
Nlrp2 |
T |
C |
7: 5,340,808 (GRCm39) |
E2G |
probably damaging |
Het |
Or11g1 |
A |
G |
14: 50,651,654 (GRCm39) |
I218V |
possibly damaging |
Het |
Or12k7 |
A |
G |
2: 36,959,091 (GRCm39) |
Y258C |
possibly damaging |
Het |
Or2y16 |
T |
C |
11: 49,335,299 (GRCm39) |
V207A |
probably benign |
Het |
Or6z5 |
C |
T |
7: 6,477,835 (GRCm39) |
A242V |
probably damaging |
Het |
Parn |
T |
C |
16: 13,469,675 (GRCm39) |
T209A |
possibly damaging |
Het |
Psip1 |
T |
A |
4: 83,391,286 (GRCm39) |
|
probably null |
Het |
Ptprc |
A |
C |
1: 137,995,628 (GRCm39) |
C1157G |
probably damaging |
Het |
Rad17 |
A |
C |
13: 100,759,389 (GRCm39) |
V546G |
probably benign |
Het |
Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
Safb |
A |
G |
17: 56,904,798 (GRCm39) |
E124G |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,392,907 (GRCm39) |
T1242A |
unknown |
Het |
Slc13a5 |
C |
T |
11: 72,144,023 (GRCm39) |
E352K |
probably benign |
Het |
Sohlh2 |
G |
T |
3: 55,104,419 (GRCm39) |
V263F |
probably benign |
Het |
Strn |
A |
G |
17: 79,008,298 (GRCm39) |
Y107H |
probably damaging |
Het |
Tbx15 |
G |
T |
3: 99,161,203 (GRCm39) |
E3* |
probably null |
Het |
Tespa1 |
A |
G |
10: 130,183,172 (GRCm39) |
D39G |
probably benign |
Het |
Trp73 |
A |
T |
4: 154,188,798 (GRCm39) |
D54E |
probably damaging |
Het |
Ttll5 |
A |
T |
12: 85,980,151 (GRCm39) |
S912C |
probably damaging |
Het |
Utp14b |
A |
T |
1: 78,643,554 (GRCm39) |
D484V |
probably benign |
Het |
Utp14b |
A |
C |
1: 78,643,557 (GRCm39) |
N485T |
probably benign |
Het |
Vmn2r29 |
T |
C |
7: 7,234,369 (GRCm39) |
E839G |
probably benign |
Het |
Vmn2r6 |
G |
C |
3: 64,467,176 (GRCm39) |
P108A |
probably damaging |
Het |
Vps8 |
T |
G |
16: 21,314,682 (GRCm39) |
|
probably null |
Het |
Zfp36l1 |
A |
T |
12: 80,156,320 (GRCm39) |
|
probably null |
Het |
Zfp998 |
T |
A |
13: 66,579,608 (GRCm39) |
T292S |
probably benign |
Het |
Zp3r |
A |
T |
1: 130,519,305 (GRCm39) |
|
probably null |
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 |
|
R5367:Sart3
|
UTSW |
5 |
113,897,277 (GRCm39) |
splice site |
probably null |
|
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 |
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'- CCACACCAGAGGAGAATCTG -3'
(R):5'- GCAACAGTTGTCACAGTTTTGTC -3'
Sequencing Primer
(F):5'- AATCTGTGGGAGCGCAGGC -3'
(R):5'- AACAGTTGTCACAGTTTTGTCTTCTG -3'
|
Posted On |
2017-10-10 |