Incidental Mutation 'R6222:Sart3'
| ID |
504071 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sart3
|
| Ensembl Gene |
ENSMUSG00000018974 |
| Gene Name |
squamous cell carcinoma antigen recognized by T cells 3 |
| Synonyms |
|
| MMRRC Submission |
044353-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R6222 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
C |
14: 35,531,923 (GRCm39) |
*217W |
probably null |
Het |
| Abcc3 |
A |
G |
11: 94,259,431 (GRCm39) |
F337L |
probably benign |
Het |
| Abcc4 |
T |
A |
14: 118,767,368 (GRCm39) |
H903L |
probably damaging |
Het |
| Akap7 |
T |
A |
10: 25,159,844 (GRCm39) |
K119* |
probably null |
Het |
| Als2 |
T |
C |
1: 59,219,284 (GRCm39) |
D1222G |
probably benign |
Het |
| Ano4 |
T |
C |
10: 88,863,084 (GRCm39) |
Y296C |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,377,922 (GRCm39) |
|
probably null |
Het |
| Arl10 |
T |
C |
13: 54,726,644 (GRCm39) |
F141L |
probably damaging |
Het |
| B130006D01Rik |
T |
C |
11: 95,616,988 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,479,147 (GRCm39) |
S197T |
possibly damaging |
Het |
| Bicd1 |
A |
T |
6: 149,414,463 (GRCm39) |
D392V |
probably damaging |
Het |
| Bmi1 |
T |
A |
2: 18,688,513 (GRCm39) |
M168K |
possibly damaging |
Het |
| C7 |
A |
T |
15: 5,041,423 (GRCm39) |
D494E |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,032,360 (GRCm39) |
N1221I |
probably benign |
Het |
| Cacng7 |
A |
G |
7: 3,385,128 (GRCm39) |
T10A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdpf1 |
T |
C |
15: 85,691,643 (GRCm39) |
R108G |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,479,472 (GRCm39) |
K196N |
probably benign |
Het |
| Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
| Cma2 |
T |
C |
14: 56,210,649 (GRCm39) |
I112T |
possibly damaging |
Het |
| Cntnap4 |
A |
G |
8: 113,569,353 (GRCm39) |
S916G |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,454,569 (GRCm39) |
Y627* |
probably null |
Het |
| Fam204a |
A |
G |
19: 60,188,400 (GRCm39) |
|
probably null |
Het |
| Galnt1 |
T |
A |
18: 24,397,591 (GRCm39) |
|
probably null |
Het |
| Gbe1 |
T |
C |
16: 70,325,900 (GRCm39) |
|
probably null |
Het |
| Gm6871 |
C |
T |
7: 41,196,006 (GRCm39) |
D244N |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,347,880 (GRCm39) |
T189A |
probably damaging |
Het |
| Igsf10 |
C |
T |
3: 59,226,336 (GRCm39) |
D2446N |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,966 (GRCm39) |
K194R |
possibly damaging |
Het |
| Ino80d |
G |
A |
1: 63,097,684 (GRCm39) |
H737Y |
probably damaging |
Het |
| Izumo4 |
C |
T |
10: 80,538,885 (GRCm39) |
R83W |
probably damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,782,522 (GRCm39) |
V219M |
probably damaging |
Het |
| Kiz |
A |
T |
2: 146,732,981 (GRCm39) |
S386C |
probably damaging |
Het |
| Ldlrap1 |
C |
T |
4: 134,484,671 (GRCm39) |
E108K |
probably damaging |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Or2ad1 |
T |
C |
13: 21,327,047 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or4c100 |
T |
C |
2: 88,329,614 (GRCm39) |
Y62H |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,374,652 (GRCm39) |
K1828E |
probably damaging |
Het |
| Prl3a1 |
T |
C |
13: 27,460,097 (GRCm39) |
F194L |
probably benign |
Het |
| Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
| Reg1 |
A |
T |
6: 78,404,357 (GRCm39) |
Q77L |
probably benign |
Het |
| Ruvbl2 |
G |
T |
7: 45,074,149 (GRCm39) |
D248E |
probably damaging |
Het |
| Serpinb5 |
T |
A |
1: 106,798,070 (GRCm39) |
C20S |
probably benign |
Het |
| Sh2d4b |
A |
C |
14: 40,542,694 (GRCm39) |
S361A |
probably damaging |
Het |
| Snx2 |
T |
A |
18: 53,332,896 (GRCm39) |
L190* |
probably null |
Het |
| Sorcs3 |
A |
T |
19: 48,748,296 (GRCm39) |
Y755F |
possibly damaging |
Het |
| Styxl2 |
G |
T |
1: 165,926,214 (GRCm39) |
Q1133K |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,503,613 (GRCm39) |
Q930R |
probably damaging |
Het |
| Tll1 |
C |
A |
8: 64,551,568 (GRCm39) |
G271V |
probably benign |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Tmem181a |
T |
C |
17: 6,351,192 (GRCm39) |
V367A |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,221,866 (GRCm39) |
|
probably null |
Het |
| Virma |
C |
T |
4: 11,527,820 (GRCm39) |
A1187V |
probably damaging |
Het |
| Wdr53 |
T |
C |
16: 32,075,482 (GRCm39) |
V229A |
probably benign |
Het |
| Zcchc10 |
T |
C |
11: 53,223,289 (GRCm39) |
|
probably benign |
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 |
|
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'- ACCGCCATGTTCACCATAGG -3'
(R):5'- TAATCCCAACATCTCAGTCCGG -3'
Sequencing Primer
(F):5'- TCCACACCAGAGGAGAATCTGTG -3'
(R):5'- GCTGGGGCCATGAGACC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation