Incidental Mutation 'R5489:Sart3'
| ID |
484444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sart3
|
| Ensembl Gene |
ENSMUSG00000018974 |
| Gene Name |
squamous cell carcinoma antigen recognized by T cells 3 |
| Synonyms |
|
| MMRRC Submission |
043050-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R5489 (G1)
|
| Quality Score |
40 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
113880505-113910461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113909441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 86
(W86R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143778
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019118]
[ENSMUST00000026937]
[ENSMUST00000112311]
[ENSMUST00000112312]
[ENSMUST00000123616]
[ENSMUST00000145592]
[ENSMUST00000197041]
[ENSMUST00000145778]
|
| AlphaFold |
Q9JLI8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019118
AA Change: W86R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: W86R
| 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: ENSMUST00000026937
|
| SMART Domains |
Protein: ENSMUSP00000026937
Gene: ENSMUSG00000025825
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
Pfam:NifU_N
|
35 |
161 |
3.9e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112311
|
| SMART Domains |
Protein: ENSMUSP00000107930
Gene: ENSMUSG00000025825
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
Pfam:NifU_N
|
35 |
149 |
1.1e-51 |
PFAM |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112312
|
| SMART Domains |
Protein: ENSMUSP00000107931
Gene: ENSMUSG00000025825
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
Pfam:NifU_N
|
35 |
149 |
3.4e-49 |
PFAM |
|
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123616
|
| SMART Domains |
Protein: ENSMUSP00000117973
Gene: ENSMUSG00000025825
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134881
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145592
|
| SMART Domains |
Protein: ENSMUSP00000123237
Gene: ENSMUSG00000025825
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NifU_N
|
32 |
136 |
2.7e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197041
AA Change: W86R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143778
Gene: ENSMUSG00000018974
AA Change: W86R
| 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: ENSMUST00000199823
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145778
|
| Meta Mutation Damage Score |
0.1099 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
| Validation Efficiency |
95% (57/60) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,268,778 (GRCm39) |
M1K |
probably null |
Het |
| Abca14 |
T |
A |
7: 119,851,473 (GRCm39) |
V817D |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,963,554 (GRCm39) |
N632S |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,390,706 (GRCm39) |
T208A |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,741,698 (GRCm39) |
|
probably null |
Het |
| Caln1 |
G |
T |
5: 130,443,673 (GRCm39) |
R2L |
possibly damaging |
Het |
| Cdk17 |
A |
G |
10: 93,068,274 (GRCm39) |
T344A |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,450,505 (GRCm39) |
|
probably benign |
Het |
| Clec14a |
A |
G |
12: 58,315,035 (GRCm39) |
F196L |
probably damaging |
Het |
| Clec2f |
T |
C |
6: 128,997,449 (GRCm39) |
|
noncoding transcript |
Het |
| Col4a1 |
A |
T |
8: 11,362,550 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,258,318 (GRCm39) |
R579H |
probably damaging |
Het |
| Cyb561 |
A |
G |
11: 105,826,349 (GRCm39) |
V202A |
probably benign |
Het |
| Cyp2c69 |
T |
G |
19: 39,839,603 (GRCm39) |
Q340P |
probably null |
Het |
| D630003M21Rik |
T |
A |
2: 158,058,941 (GRCm39) |
T320S |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,173,782 (GRCm39) |
S129T |
possibly damaging |
Het |
| Ddx54 |
A |
G |
5: 120,762,786 (GRCm39) |
T636A |
probably benign |
Het |
| Dnah8 |
T |
G |
17: 31,009,930 (GRCm39) |
F3774V |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,298,355 (GRCm39) |
S674P |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 59,001,303 (GRCm39) |
L8Q |
probably null |
Het |
| Fam83b |
T |
C |
9: 76,452,881 (GRCm39) |
N62S |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,121,266 (GRCm39) |
V94E |
probably damaging |
Het |
| Frmd8 |
T |
A |
19: 5,902,680 (GRCm39) |
Q457L |
probably damaging |
Het |
| Gvin3 |
T |
A |
7: 106,200,797 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr6 |
A |
G |
11: 83,665,258 (GRCm39) |
E741G |
probably damaging |
Het |
| Hnrnpab |
A |
G |
11: 51,495,640 (GRCm39) |
L133S |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 114,979,971 (GRCm39) |
W1077R |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,332 (GRCm39) |
D1228G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,335 (GRCm39) |
|
probably benign |
Het |
| Leap2 |
T |
G |
11: 53,313,240 (GRCm39) |
*77C |
probably null |
Het |
| Mmp20 |
A |
G |
9: 7,643,958 (GRCm39) |
|
probably null |
Het |
| Mrps9 |
T |
G |
1: 42,937,593 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,305,169 (GRCm39) |
S158P |
probably benign |
Het |
| Mus81 |
T |
C |
19: 5,537,917 (GRCm39) |
|
probably benign |
Het |
| Nrip3 |
T |
C |
7: 109,361,045 (GRCm39) |
T210A |
probably damaging |
Het |
| Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
| Padi2 |
T |
C |
4: 140,671,799 (GRCm39) |
F509S |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,155,260 (GRCm39) |
T660A |
probably benign |
Het |
| Pdzd2 |
G |
A |
15: 12,382,762 (GRCm39) |
P1197L |
probably benign |
Het |
| Rec8 |
A |
T |
14: 55,860,283 (GRCm39) |
Q291L |
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Slc17a4 |
A |
G |
13: 24,082,825 (GRCm39) |
|
probably null |
Het |
| Tdpoz1 |
T |
A |
3: 93,577,974 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Thap3 |
T |
A |
4: 152,070,109 (GRCm39) |
|
probably benign |
Het |
| Tmem45a |
T |
A |
16: 56,646,074 (GRCm39) |
|
probably null |
Het |
| Trim43a |
A |
T |
9: 88,464,229 (GRCm39) |
I47F |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,770,688 (GRCm39) |
I2044L |
probably benign |
Het |
| Zfp735 |
G |
A |
11: 73,601,419 (GRCm39) |
W121* |
probably null |
Het |
| Zmym2 |
A |
G |
14: 57,193,712 (GRCm39) |
K1176E |
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 |
|
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 |
|
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'- TGGAATACTTTAGGGACGCCC -3'
(R):5'- AGTTTTGATCAGGCAGACGC -3'
Sequencing Primer
(F):5'- ACTCACGGTGGCTCACG -3'
(R):5'- ACGACGGCCGCATCTTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation