Incidental Mutation 'R4231:Sart3'
| ID |
320839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sart3
|
| Ensembl Gene |
ENSMUSG00000018974 |
| Gene Name |
squamous cell carcinoma antigen recognized by T cells 3 |
| Synonyms |
|
| MMRRC Submission |
041050-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.970)
|
| Stock # |
R4231 (G1)
|
| Quality Score |
171 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
113880505-113910461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113909479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 73
(M73T)
|
| 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 benign
Transcript: ENSMUST00000019118
AA Change: M73T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000019118
Gene: ENSMUSG00000018974
AA Change: M73T
| 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 benign
Transcript: ENSMUST00000197041
AA Change: M73T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143778
Gene: ENSMUSG00000018974
AA Change: M73T
| 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 |
0.0886 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
99% (75/76) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,187,821 (GRCm39) |
D1745V |
probably damaging |
Het |
| Aldh5a1 |
C |
T |
13: 25,095,636 (GRCm39) |
G494R |
probably damaging |
Het |
| Ankar |
T |
C |
1: 72,697,701 (GRCm39) |
D1034G |
probably benign |
Het |
| Aox3 |
T |
A |
1: 58,154,044 (GRCm39) |
N23K |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| Bltp1 |
C |
T |
3: 36,974,385 (GRCm39) |
T663I |
probably benign |
Het |
| Cacnb2 |
A |
G |
2: 14,986,251 (GRCm39) |
K343E |
probably damaging |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cd93 |
A |
T |
2: 148,284,880 (GRCm39) |
H155Q |
probably benign |
Het |
| Cox6b2 |
T |
C |
7: 4,755,834 (GRCm39) |
M1V |
probably null |
Het |
| Crat |
T |
C |
2: 30,303,023 (GRCm39) |
E88G |
possibly damaging |
Het |
| Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
| Dip2a |
G |
A |
10: 76,155,304 (GRCm39) |
P94S |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
| Filip1l |
T |
C |
16: 57,327,131 (GRCm39) |
S54P |
probably benign |
Het |
| Gm12887 |
A |
T |
4: 121,479,299 (GRCm39) |
M1K |
probably null |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,353,143 (GRCm39) |
E395V |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Irak2 |
A |
G |
6: 113,667,817 (GRCm39) |
E466G |
probably damaging |
Het |
| Irgm2 |
C |
T |
11: 58,110,304 (GRCm39) |
|
probably benign |
Het |
| Jak3 |
T |
A |
8: 72,138,189 (GRCm39) |
V880D |
probably damaging |
Het |
| Jmy |
G |
T |
13: 93,635,433 (GRCm39) |
P128T |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,765,091 (GRCm39) |
N775S |
probably benign |
Het |
| Kremen1 |
G |
A |
11: 5,193,881 (GRCm39) |
Q50* |
probably null |
Het |
| Lrrc71 |
A |
G |
3: 87,648,298 (GRCm39) |
I438T |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,905,028 (GRCm39) |
T374A |
probably benign |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Mta1 |
T |
C |
12: 113,099,447 (GRCm39) |
M603T |
possibly damaging |
Het |
| Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,325 (GRCm39) |
Q13L |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,443,344 (GRCm39) |
N1133S |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,767,660 (GRCm39) |
N205D |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
| Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
| Or4f17-ps1 |
C |
T |
2: 111,358,546 (GRCm39) |
R314C |
probably damaging |
Het |
| Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
| Pam |
A |
G |
1: 97,811,849 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,762 (GRCm39) |
T232I |
probably damaging |
Het |
| Prkar1b |
A |
G |
5: 139,094,376 (GRCm39) |
S71P |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,522,144 (GRCm39) |
Y602* |
probably null |
Het |
| Rfx4 |
A |
T |
10: 84,650,558 (GRCm39) |
M84L |
probably benign |
Het |
| Rfx7 |
A |
T |
9: 72,526,672 (GRCm39) |
E1287D |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,078,845 (GRCm39) |
S35T |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,541,097 (GRCm39) |
V402A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scn10a |
G |
T |
9: 119,460,610 (GRCm39) |
T1088K |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,830,304 (GRCm39) |
|
probably null |
Het |
| Setd7 |
T |
C |
3: 51,450,151 (GRCm39) |
N92D |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,704,117 (GRCm39) |
L735Q |
probably damaging |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slitrk6 |
A |
T |
14: 110,988,820 (GRCm39) |
S296T |
probably benign |
Het |
| Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
| Tex15 |
T |
C |
8: 34,062,165 (GRCm39) |
S806P |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,886,509 (GRCm39) |
K577* |
probably null |
Het |
| Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,773,354 (GRCm39) |
T24A |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,310,991 (GRCm39) |
C568R |
possibly damaging |
Het |
| Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
probably null |
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 |
|
|
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'- TCAGCGGTCTCCATAACCAC -3'
(R):5'- GAGTTTTGATCAGGCAGACGC -3'
Sequencing Primer
(F):5'- TCCATAACCACGGAGGACC -3'
(R):5'- ACGACGGCCGCATCTTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation