Incidental Mutation 'R3895:Sart3'
| ID |
310489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sart3
|
| Ensembl Gene |
ENSMUSG00000018974 |
| Gene Name |
squamous cell carcinoma antigen recognized by T cells 3 |
| Synonyms |
|
| MMRRC Submission |
040806-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R3895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
113880505-113910461 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 113890488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 452
(R452*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019118]
[ENSMUST00000197041]
|
| AlphaFold |
Q9JLI8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019118
AA Change: R452*
|
| SMART Domains |
Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: R452*
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (45/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,814,445 (GRCm39) |
|
probably benign |
Het |
| C6 |
T |
C |
15: 4,837,952 (GRCm39) |
V854A |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,631 (GRCm39) |
E136G |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,840,441 (GRCm39) |
F422I |
probably benign |
Het |
| Csta1 |
T |
C |
16: 35,951,402 (GRCm39) |
T7A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,028,865 (GRCm39) |
E23G |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,044,556 (GRCm39) |
R286S |
probably damaging |
Het |
| Gm12258 |
T |
G |
11: 58,749,375 (GRCm39) |
Y183* |
probably null |
Het |
| Gvin-ps6 |
T |
A |
7: 106,022,621 (GRCm39) |
H127L |
probably damaging |
Het |
| Hectd3 |
A |
G |
4: 116,853,286 (GRCm39) |
D171G |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,513,136 (GRCm39) |
R134W |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,251,278 (GRCm39) |
T246A |
unknown |
Het |
| Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,662,352 (GRCm39) |
P52L |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,899,388 (GRCm39) |
D2148G |
probably null |
Het |
| Med24 |
A |
G |
11: 98,597,214 (GRCm39) |
S889P |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,736,054 (GRCm39) |
M851K |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,484,602 (GRCm39) |
L710H |
probably damaging |
Het |
| Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,461,863 (GRCm39) |
S574R |
probably damaging |
Het |
| Nol11 |
C |
A |
11: 107,059,173 (GRCm39) |
V644F |
probably damaging |
Het |
| Nusap1 |
C |
A |
2: 119,458,172 (GRCm39) |
Q103K |
possibly damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 94,124,974 (GRCm39) |
V399M |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,102,006 (GRCm39) |
S359P |
probably benign |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,582,743 (GRCm39) |
A530V |
probably benign |
Het |
| Rho |
A |
G |
6: 115,910,863 (GRCm39) |
Y136C |
probably damaging |
Het |
| Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,551,504 (GRCm39) |
N564D |
probably damaging |
Het |
| Sbf2 |
T |
C |
7: 110,046,298 (GRCm39) |
I300V |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
| Slc22a5 |
T |
C |
11: 53,756,651 (GRCm39) |
K553R |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,355,456 (GRCm39) |
V375A |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,516,804 (GRCm39) |
E28G |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,818,786 (GRCm39) |
K1292R |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,995,890 (GRCm39) |
T108A |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,840,805 (GRCm39) |
H15Q |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,596 (GRCm39) |
S208P |
possibly damaging |
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 |
|
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 |
|
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'- ATGATCAGGCAGCTTGGATC -3'
(R):5'- AAATCCTGGGTCACACGCTG -3'
Sequencing Primer
(F):5'- GCAGCTTGGATCCCCACTC -3'
(R):5'- GCTTTTCAGGGCCACCGTAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation