Incidental Mutation 'IGL01722:Mta3'
| ID |
105143 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mta3
|
| Ensembl Gene |
ENSMUSG00000055817 |
| Gene Name |
metastasis associated 3 |
| Synonyms |
1110002J22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.506)
|
| Stock # |
IGL01722
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
84013592-84128945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84063072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 4
(Y4H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067826]
[ENSMUST00000112349]
[ENSMUST00000112350]
[ENSMUST00000112352]
[ENSMUST00000176816]
[ENSMUST00000177069]
|
| AlphaFold |
Q924K8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067826
AA Change: Y156H
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068931
Gene: ENSMUSG00000055817
AA Change: Y156H
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
147 |
2.62e-30 |
SMART |
|
ELM2
|
150 |
203 |
3.49e-16 |
SMART |
|
SANT
|
266 |
315 |
7.94e-8 |
SMART |
|
ZnF_GATA
|
371 |
425 |
8.33e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112349
AA Change: Y156H
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107968
Gene: ENSMUSG00000055817
AA Change: Y156H
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
147 |
2.62e-30 |
SMART |
|
ELM2
|
150 |
204 |
2.5e-17 |
SMART |
|
SANT
|
267 |
316 |
7.94e-8 |
SMART |
|
ZnF_GATA
|
373 |
427 |
8.33e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112350
AA Change: Y156H
PolyPhen 2
Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107969
Gene: ENSMUSG00000055817
AA Change: Y156H
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
147 |
2.62e-30 |
SMART |
|
ELM2
|
150 |
204 |
2.5e-17 |
SMART |
|
SANT
|
267 |
316 |
7.94e-8 |
SMART |
|
ZnF_GATA
|
372 |
426 |
8.33e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112352
AA Change: Y156H
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107971
Gene: ENSMUSG00000055817
AA Change: Y156H
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
147 |
2.62e-30 |
SMART |
|
ELM2
|
150 |
204 |
2.5e-17 |
SMART |
|
SANT
|
267 |
316 |
7.94e-8 |
SMART |
|
ZnF_GATA
|
372 |
426 |
8.33e-15 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176816
AA Change: Y4H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135752
Gene: ENSMUSG00000055817
AA Change: Y4H
| Domain | Start | End | E-Value | Type |
|---|
|
ELM2
|
1 |
52 |
3.23e-11 |
SMART |
|
SANT
|
115 |
164 |
7.94e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177416
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
A |
2: 58,173,561 (GRCm39) |
|
probably benign |
Het |
| Alb |
G |
A |
5: 90,618,698 (GRCm39) |
|
probably null |
Het |
| Ankrd9 |
A |
G |
12: 110,943,797 (GRCm39) |
V46A |
probably damaging |
Het |
| Apol11a |
A |
T |
15: 77,401,307 (GRCm39) |
M265L |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,810,598 (GRCm39) |
N97D |
possibly damaging |
Het |
| Cobl |
T |
G |
11: 12,203,987 (GRCm39) |
H823P |
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,279,908 (GRCm39) |
H90Q |
probably benign |
Het |
| Dpagt1 |
T |
C |
9: 44,238,899 (GRCm39) |
F73S |
possibly damaging |
Het |
| Dph3 |
C |
T |
14: 31,807,417 (GRCm39) |
E20K |
possibly damaging |
Het |
| Fbxl13 |
G |
T |
5: 21,695,412 (GRCm39) |
T660K |
possibly damaging |
Het |
| Gask1a |
G |
A |
9: 121,794,149 (GRCm39) |
S101N |
possibly damaging |
Het |
| Glt6d1 |
T |
C |
2: 25,684,431 (GRCm39) |
T192A |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,560,358 (GRCm39) |
V649I |
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,292,956 (GRCm39) |
L369P |
probably damaging |
Het |
| Or2y1 |
G |
T |
11: 49,385,793 (GRCm39) |
L144F |
probably damaging |
Het |
| Or4c52 |
T |
C |
2: 89,845,351 (GRCm39) |
C26R |
probably benign |
Het |
| Paxx |
T |
C |
2: 25,350,277 (GRCm39) |
D110G |
probably damaging |
Het |
| Pcyox1 |
T |
G |
6: 86,365,735 (GRCm39) |
D493A |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,535,976 (GRCm39) |
E560G |
probably benign |
Het |
| Rnf6 |
A |
G |
5: 146,147,036 (GRCm39) |
F661L |
probably benign |
Het |
| Sema4a |
T |
C |
3: 88,345,491 (GRCm39) |
K531E |
probably benign |
Het |
| Svs5 |
T |
C |
2: 164,079,446 (GRCm39) |
K154E |
possibly damaging |
Het |
| Tbx4 |
A |
T |
11: 85,802,769 (GRCm39) |
Q242L |
probably damaging |
Het |
| Tgm3 |
A |
T |
2: 129,886,488 (GRCm39) |
I570F |
probably damaging |
Het |
| Thrap3 |
A |
T |
4: 126,059,322 (GRCm39) |
M908K |
possibly damaging |
Het |
| Trmo |
A |
G |
4: 46,386,092 (GRCm39) |
|
probably null |
Het |
| Usp8 |
T |
A |
2: 126,600,072 (GRCm39) |
L997Q |
probably damaging |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,890 (GRCm39) |
R176G |
probably benign |
Het |
| Vps52 |
T |
A |
17: 34,180,589 (GRCm39) |
Y308* |
probably null |
Het |
|
| Other mutations in Mta3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Mta3
|
APN |
17 |
84,015,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00467:Mta3
|
APN |
17 |
84,063,113 (GRCm39) |
splice site |
probably benign |
|
|
IGL00475:Mta3
|
APN |
17 |
84,015,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00539:Mta3
|
APN |
17 |
84,070,412 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03355:Mta3
|
APN |
17 |
84,107,474 (GRCm39) |
splice site |
probably benign |
|
|
container
|
UTSW |
17 |
84,015,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Mta3
|
UTSW |
17 |
84,074,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Mta3
|
UTSW |
17 |
84,022,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1848:Mta3
|
UTSW |
17 |
84,062,980 (GRCm39) |
splice site |
probably benign |
|
|
R1870:Mta3
|
UTSW |
17 |
84,089,397 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2358:Mta3
|
UTSW |
17 |
84,070,417 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2373:Mta3
|
UTSW |
17 |
84,091,730 (GRCm39) |
nonsense |
probably null |
|
|
R2447:Mta3
|
UTSW |
17 |
84,111,973 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3711:Mta3
|
UTSW |
17 |
84,070,417 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3712:Mta3
|
UTSW |
17 |
84,070,417 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4107:Mta3
|
UTSW |
17 |
84,070,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4771:Mta3
|
UTSW |
17 |
84,063,103 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5259:Mta3
|
UTSW |
17 |
84,112,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5980:Mta3
|
UTSW |
17 |
84,015,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Mta3
|
UTSW |
17 |
84,099,222 (GRCm39) |
missense |
probably benign |
|
|
R6555:Mta3
|
UTSW |
17 |
84,015,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6909:Mta3
|
UTSW |
17 |
84,073,980 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7170:Mta3
|
UTSW |
17 |
84,022,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Mta3
|
UTSW |
17 |
84,015,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7597:Mta3
|
UTSW |
17 |
84,083,011 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7638:Mta3
|
UTSW |
17 |
84,107,572 (GRCm39) |
missense |
probably benign |
|
|
R7747:Mta3
|
UTSW |
17 |
84,099,165 (GRCm39) |
nonsense |
probably null |
|
|
R7894:Mta3
|
UTSW |
17 |
84,070,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8170:Mta3
|
UTSW |
17 |
84,099,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8799:Mta3
|
UTSW |
17 |
84,096,369 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8944:Mta3
|
UTSW |
17 |
84,083,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Mta3
|
UTSW |
17 |
84,015,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9212:Mta3
|
UTSW |
17 |
84,015,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Mta3
|
UTSW |
17 |
84,070,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Mta3
|
UTSW |
17 |
84,089,397 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2014-01-21 |
Incidental Mutation