Incidental Mutation 'R0668:Sart1'
| ID |
62114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sart1
|
| Ensembl Gene |
ENSMUSG00000039148 |
| Gene Name |
squamous cell carcinoma antigen recognized by T cells 1 |
| Synonyms |
U5-110K |
| MMRRC Submission |
038853-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0668 (G1)
|
| Quality Score |
149 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5427551-5438731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5434284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 249
(Y249C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044207]
|
| AlphaFold |
Q9Z315 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044207
AA Change: Y249C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047397
Gene: ENSMUSG00000039148
AA Change: Y249C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
83 |
N/A |
INTRINSIC |
|
Pfam:SART-1
|
117 |
759 |
1.5e-151 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.6%
- 20x: 91.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
T |
1: 71,302,773 (GRCm39) |
Q2149K |
probably damaging |
Het |
| Aifm1 |
T |
C |
X: 47,583,668 (GRCm39) |
Q210R |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,607,345 (GRCm39) |
N31D |
possibly damaging |
Het |
| Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
| Bltp3a |
A |
T |
17: 28,114,913 (GRCm39) |
I1408F |
probably benign |
Het |
| Cfb |
G |
T |
17: 35,076,079 (GRCm39) |
Q1176K |
probably benign |
Het |
| Chdh |
A |
G |
14: 29,757,837 (GRCm39) |
H447R |
probably damaging |
Het |
| Cpd |
A |
C |
11: 76,675,224 (GRCm39) |
V1299G |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,086 (GRCm38) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,344,958 (GRCm39) |
T2101A |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,611,318 (GRCm39) |
I387F |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,846,127 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gm10549 |
A |
G |
18: 33,603,903 (GRCm39) |
T129A |
unknown |
Het |
| Jph1 |
T |
A |
1: 17,161,895 (GRCm39) |
T256S |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,417,563 (GRCm39) |
Y768H |
probably damaging |
Het |
| Lcmt1 |
G |
A |
7: 123,002,094 (GRCm39) |
D120N |
probably damaging |
Het |
| Ly6g6d |
G |
A |
17: 35,290,715 (GRCm39) |
H72Y |
probably damaging |
Het |
| Myom3 |
A |
G |
4: 135,492,237 (GRCm39) |
D127G |
possibly damaging |
Het |
| Or10c1 |
T |
A |
17: 37,522,535 (GRCm39) |
I70F |
probably damaging |
Het |
| Pira13 |
G |
A |
7: 3,825,699 (GRCm39) |
T390I |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,130,948 (GRCm39) |
Y322H |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,303,852 (GRCm39) |
T295A |
probably damaging |
Het |
| Slc4a5 |
T |
A |
6: 83,248,054 (GRCm39) |
L535Q |
probably damaging |
Het |
| Them5 |
A |
T |
3: 94,251,720 (GRCm39) |
K110N |
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,644 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,667 (GRCm39) |
M42K |
probably benign |
Het |
| Zfp143 |
A |
T |
7: 109,660,481 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sart1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01070:Sart1
|
APN |
19 |
5,433,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02390:Sart1
|
APN |
19 |
5,430,489 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02533:Sart1
|
APN |
19 |
5,433,749 (GRCm39) |
nonsense |
probably null |
|
|
IGL03094:Sart1
|
APN |
19 |
5,434,109 (GRCm39) |
splice site |
probably benign |
|
|
R0219:Sart1
|
UTSW |
19 |
5,438,424 (GRCm39) |
missense |
probably benign |
|
|
R0226:Sart1
|
UTSW |
19 |
5,431,150 (GRCm39) |
splice site |
probably benign |
|
|
R0304:Sart1
|
UTSW |
19 |
5,430,559 (GRCm39) |
splice site |
probably benign |
|
|
R0537:Sart1
|
UTSW |
19 |
5,431,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Sart1
|
UTSW |
19 |
5,430,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Sart1
|
UTSW |
19 |
5,430,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Sart1
|
UTSW |
19 |
5,435,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4077:Sart1
|
UTSW |
19 |
5,432,771 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4866:Sart1
|
UTSW |
19 |
5,432,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5081:Sart1
|
UTSW |
19 |
5,438,576 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5523:Sart1
|
UTSW |
19 |
5,433,704 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5756:Sart1
|
UTSW |
19 |
5,430,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5875:Sart1
|
UTSW |
19 |
5,433,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Sart1
|
UTSW |
19 |
5,431,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7360:Sart1
|
UTSW |
19 |
5,433,231 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7560:Sart1
|
UTSW |
19 |
5,434,905 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7764:Sart1
|
UTSW |
19 |
5,438,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Sart1
|
UTSW |
19 |
5,433,769 (GRCm39) |
missense |
probably benign |
|
|
R8517:Sart1
|
UTSW |
19 |
5,433,225 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8796:Sart1
|
UTSW |
19 |
5,438,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Sart1
|
UTSW |
19 |
5,438,529 (GRCm39) |
missense |
probably benign |
|
|
R8928:Sart1
|
UTSW |
19 |
5,438,529 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTTCACATTCACCAGCACGTC -3'
(R):5'- TTGTGTAGCCAAGTGGGAGCATC -3'
Sequencing Primer
(F):5'- TGCAGTACCCCTGAGACG -3'
(R):5'- CACTGATGATGAGGTCACTGTCC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation