Incidental Mutation 'IGL03247:Tusc3'
| ID |
414439 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tusc3
|
| Ensembl Gene |
ENSMUSG00000039530 |
| Gene Name |
tumor suppressor candidate 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.336)
|
| Stock # |
IGL03247
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
39472999-39619367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39597931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 299
(N299K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167992]
[ENSMUST00000169034]
[ENSMUST00000209440]
[ENSMUST00000211241]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167992
AA Change: N299K
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126080
Gene: ENSMUSG00000039530
AA Change: N299K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
64 |
185 |
3.7e-7 |
PFAM |
|
Pfam:OST3_OST6
|
179 |
329 |
1.6e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169034
|
| SMART Domains |
Protein: ENSMUSP00000129916
Gene: ENSMUSG00000039530
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
PDB:4M90|A
|
44 |
102 |
7e-38 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209440
AA Change: N299K
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000210890
AA Change: N182K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211241
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
T |
A |
14: 56,007,553 (GRCm39) |
I926F |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,692,820 (GRCm39) |
N418D |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,655,579 (GRCm39) |
V3375A |
possibly damaging |
Het |
| Ankrd6 |
T |
A |
4: 32,860,441 (GRCm39) |
M1L |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,303,526 (GRCm39) |
D1188G |
probably damaging |
Het |
| Car2 |
T |
A |
3: 14,952,999 (GRCm39) |
L47Q |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,240,681 (GRCm39) |
V107A |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,416,473 (GRCm39) |
N313S |
possibly damaging |
Het |
| Dolk |
T |
C |
2: 30,175,523 (GRCm39) |
Y174C |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,298,147 (GRCm39) |
E219G |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,770,894 (GRCm39) |
E733G |
probably benign |
Het |
| Fam228a |
A |
G |
12: 4,787,734 (GRCm39) |
F13S |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,545,169 (GRCm39) |
V829A |
probably benign |
Het |
| Gid4 |
C |
A |
11: 60,323,169 (GRCm39) |
T87N |
probably benign |
Het |
| H2-Ob |
A |
G |
17: 34,462,466 (GRCm39) |
K152R |
probably benign |
Het |
| Ifna2 |
T |
A |
4: 88,601,614 (GRCm39) |
T135S |
probably benign |
Het |
| Il1rapl2 |
G |
A |
X: 137,690,429 (GRCm39) |
G298D |
probably damaging |
Het |
| Mbd1 |
T |
A |
18: 74,407,825 (GRCm39) |
L174* |
probably null |
Het |
| Mga |
T |
A |
2: 119,765,994 (GRCm39) |
D1341E |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,348,631 (GRCm39) |
M54K |
probably benign |
Het |
| Mphosph8 |
T |
A |
14: 56,916,277 (GRCm39) |
|
probably null |
Het |
| Mrps23 |
A |
G |
11: 88,100,922 (GRCm39) |
|
probably benign |
Het |
| Necab1 |
C |
T |
4: 14,960,046 (GRCm39) |
M300I |
probably benign |
Het |
| Nid2 |
G |
A |
14: 19,829,688 (GRCm39) |
D660N |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,276,754 (GRCm39) |
H313L |
probably benign |
Het |
| Or9r7 |
T |
A |
10: 129,962,584 (GRCm39) |
E114V |
probably damaging |
Het |
| P2ry13 |
A |
T |
3: 59,117,013 (GRCm39) |
V255D |
possibly damaging |
Het |
| Peak1 |
C |
T |
9: 56,165,214 (GRCm39) |
E905K |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,843,499 (GRCm39) |
Q550K |
probably benign |
Het |
| Rnf103 |
T |
A |
6: 71,487,289 (GRCm39) |
V640E |
possibly damaging |
Het |
| Sec31b |
T |
G |
19: 44,507,379 (GRCm39) |
K817N |
possibly damaging |
Het |
| Shisal2a |
A |
T |
4: 108,225,098 (GRCm39) |
C155S |
probably benign |
Het |
| Skint2 |
C |
A |
4: 112,483,223 (GRCm39) |
H209Q |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,798,005 (GRCm39) |
S193G |
probably damaging |
Het |
| Tacr3 |
A |
G |
3: 134,635,852 (GRCm39) |
|
probably benign |
Het |
| Tek |
A |
G |
4: 94,753,680 (GRCm39) |
M1041V |
possibly damaging |
Het |
| Tm4sf1 |
A |
G |
3: 57,200,436 (GRCm39) |
S89P |
possibly damaging |
Het |
| Washc4 |
T |
C |
10: 83,400,327 (GRCm39) |
S418P |
probably benign |
Het |
|
| Other mutations in Tusc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01730:Tusc3
|
APN |
8 |
39,617,880 (GRCm39) |
makesense |
probably null |
|
|
R0070:Tusc3
|
UTSW |
8 |
39,530,421 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0594:Tusc3
|
UTSW |
8 |
39,564,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Tusc3
|
UTSW |
8 |
39,513,721 (GRCm39) |
nonsense |
probably null |
|
|
R3615:Tusc3
|
UTSW |
8 |
39,617,879 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3616:Tusc3
|
UTSW |
8 |
39,617,879 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5502:Tusc3
|
UTSW |
8 |
39,597,947 (GRCm39) |
nonsense |
probably null |
|
|
R5723:Tusc3
|
UTSW |
8 |
39,538,651 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5753:Tusc3
|
UTSW |
8 |
39,564,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6004:Tusc3
|
UTSW |
8 |
39,538,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6030:Tusc3
|
UTSW |
8 |
39,538,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6030:Tusc3
|
UTSW |
8 |
39,538,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Tusc3
|
UTSW |
8 |
39,593,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7483:Tusc3
|
UTSW |
8 |
39,538,635 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8309:Tusc3
|
UTSW |
8 |
39,617,882 (GRCm39) |
makesense |
probably null |
|
|
R8968:Tusc3
|
UTSW |
8 |
39,597,898 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9006:Tusc3
|
UTSW |
8 |
39,538,627 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation