Incidental Mutation 'R8241:Sart3'
| ID |
637549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sart3
|
| Ensembl Gene |
ENSMUSG00000018974 |
| Gene Name |
squamous cell carcinoma antigen recognized by T cells 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R8241 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
113880505-113910461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113884029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 661
(K661M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019118]
[ENSMUST00000197041]
|
| AlphaFold |
Q9JLI8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019118
AA Change: K661M
PolyPhen 2
Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: K661M
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 98.1%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,079,456 (GRCm39) |
R1233G |
probably null |
Het |
| Acacb |
A |
T |
5: 114,333,297 (GRCm39) |
I474F |
possibly damaging |
Het |
| Adora1 |
A |
T |
1: 134,131,062 (GRCm39) |
V203D |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,290,998 (GRCm39) |
S653G |
probably benign |
Het |
| Agtr1a |
T |
C |
13: 30,565,082 (GRCm39) |
V49A |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,984,659 (GRCm39) |
V1981A |
probably benign |
Het |
| Arhgap5 |
T |
G |
12: 52,565,098 (GRCm39) |
Y690D |
probably benign |
Het |
| Bbs9 |
A |
G |
9: 22,590,214 (GRCm39) |
I651V |
probably benign |
Het |
| Brms1 |
C |
T |
19: 5,096,007 (GRCm39) |
A27V |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,168,282 (GRCm39) |
V256A |
probably benign |
Het |
| Capg |
G |
T |
6: 72,533,236 (GRCm39) |
|
probably null |
Het |
| Chpt1 |
T |
C |
10: 88,288,953 (GRCm39) |
K154E |
|
Het |
| Cyp1b1 |
T |
C |
17: 80,021,223 (GRCm39) |
E173G |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw27 |
T |
G |
9: 109,602,283 (GRCm39) |
N230T |
possibly damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,891,585 (GRCm39) |
T126A |
probably benign |
Het |
| Fut10 |
C |
A |
8: 31,750,034 (GRCm39) |
S440* |
probably null |
Het |
| Gbf1 |
T |
C |
19: 46,234,576 (GRCm39) |
V71A |
probably damaging |
Het |
| Gpatch8 |
T |
C |
11: 102,378,347 (GRCm39) |
E201G |
unknown |
Het |
| Hic2 |
A |
G |
16: 17,076,950 (GRCm39) |
Y593C |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 94,068,677 (GRCm39) |
V181E |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,320,013 (GRCm39) |
I176N |
possibly damaging |
Het |
| Kcna2 |
G |
T |
3: 107,012,338 (GRCm39) |
K306N |
probably damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,948,117 (GRCm39) |
Y244H |
probably damaging |
Het |
| Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
| Mapk14 |
T |
A |
17: 28,934,374 (GRCm39) |
D88E |
possibly damaging |
Het |
| Marchf10 |
C |
A |
11: 105,280,741 (GRCm39) |
A515S |
probably benign |
Het |
| Mrpl1 |
T |
A |
5: 96,386,733 (GRCm39) |
L241I |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,372,286 (GRCm39) |
N781K |
probably benign |
Het |
| Nfkb2 |
T |
A |
19: 46,296,054 (GRCm39) |
D186E |
probably benign |
Het |
| Or3a1b |
G |
A |
11: 74,013,035 (GRCm39) |
V307I |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,734,976 (GRCm39) |
I106V |
probably benign |
Het |
| Ppp4r2 |
A |
G |
6: 100,842,044 (GRCm39) |
I168M |
probably damaging |
Het |
| Prpf4b |
A |
T |
13: 35,079,974 (GRCm39) |
K779N |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,433,760 (GRCm39) |
|
probably null |
Het |
| Rgs12 |
T |
C |
5: 35,123,117 (GRCm39) |
F300S |
probably damaging |
Het |
| Scyl2 |
T |
C |
10: 89,489,971 (GRCm39) |
I464V |
possibly damaging |
Het |
| Sema5a |
A |
G |
15: 32,575,064 (GRCm39) |
T391A |
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,025,070 (GRCm39) |
T183A |
unknown |
Het |
| Sh3rf3 |
C |
T |
10: 58,940,242 (GRCm39) |
P688S |
probably benign |
Het |
| Themis3 |
T |
C |
17: 66,866,962 (GRCm39) |
T93A |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 130,117,688 (GRCm39) |
S1402T |
probably damaging |
Het |
| Ubr1 |
A |
T |
2: 120,793,937 (GRCm39) |
D82E |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,433,982 (GRCm39) |
F192S |
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,031 (GRCm39) |
K678E |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,047 (GRCm39) |
T1826N |
|
Het |
| Vps41 |
A |
G |
13: 19,033,168 (GRCm39) |
D633G |
possibly damaging |
Het |
| Wdr3 |
A |
T |
3: 100,057,259 (GRCm39) |
I448N |
probably 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 |
|
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 |
|
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 |
|
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'- TGAAAATTGGCCTGATCTGGACC -3'
(R):5'- CCACTGAATTGAGCGTGGAG -3'
Sequencing Primer
(F):5'- TCAAAGAGCGGCCTGAGCTTC -3'
(R):5'- AGACGGTGCAGTTTGTATGAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation