Incidental Mutation 'IGL00475:Mta3'
| ID |
277557 |
| 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 # |
IGL00475
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
84013592-84128945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84015861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 21
(P21L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067826]
[ENSMUST00000112349]
[ENSMUST00000112350]
[ENSMUST00000112352]
[ENSMUST00000177069]
|
| AlphaFold |
Q924K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067826
AA Change: P21L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068931
Gene: ENSMUSG00000055817
AA Change: P21L
| 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 |
probably damaging
Transcript: ENSMUST00000112349
AA Change: P21L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107968
Gene: ENSMUSG00000055817
AA Change: P21L
| 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 damaging
Transcript: ENSMUST00000112350
AA Change: P21L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107969
Gene: ENSMUSG00000055817
AA Change: P21L
| 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 |
probably damaging
Transcript: ENSMUST00000112352
AA Change: P21L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107971
Gene: ENSMUSG00000055817
AA Change: P21L
| 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 |
probably benign
Transcript: ENSMUST00000177069
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
A |
16: 14,254,437 (GRCm39) |
A583T |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 19,013,349 (GRCm39) |
I650F |
probably damaging |
Het |
| Ces1a |
A |
G |
8: 93,747,095 (GRCm39) |
L548P |
probably damaging |
Het |
| Commd9 |
C |
T |
2: 101,725,501 (GRCm39) |
R25* |
probably null |
Het |
| Depdc1b |
T |
A |
13: 108,493,974 (GRCm39) |
Y121N |
probably benign |
Het |
| Epha6 |
A |
T |
16: 59,736,325 (GRCm39) |
F736L |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,545,571 (GRCm39) |
K868R |
probably benign |
Het |
| Fgd1 |
C |
T |
X: 149,855,440 (GRCm39) |
A502V |
probably benign |
Het |
| Gm5111 |
A |
T |
6: 48,566,620 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
G |
T |
11: 57,133,767 (GRCm39) |
G480* |
probably null |
Het |
| Krt5 |
T |
C |
15: 101,621,076 (GRCm39) |
Y57C |
unknown |
Het |
| Metap1d |
C |
T |
2: 71,346,090 (GRCm39) |
A217V |
probably damaging |
Het |
| Mrpl1 |
A |
G |
5: 96,374,144 (GRCm39) |
K140E |
probably damaging |
Het |
| Nanog |
A |
T |
6: 122,688,495 (GRCm39) |
|
probably null |
Het |
| Ogn |
A |
G |
13: 49,776,391 (GRCm39) |
I277V |
probably benign |
Het |
| Pole |
T |
A |
5: 110,438,962 (GRCm39) |
Y187* |
probably null |
Het |
| Psme4 |
A |
T |
11: 30,795,252 (GRCm39) |
K1254I |
probably benign |
Het |
| Rac1 |
G |
A |
5: 143,493,093 (GRCm39) |
A165V |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,152,093 (GRCm39) |
M2185K |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,176,077 (GRCm39) |
D274V |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,919,246 (GRCm39) |
Y376* |
probably null |
Het |
| Tead1 |
C |
A |
7: 112,438,662 (GRCm39) |
T66K |
probably damaging |
Het |
| Vps53 |
C |
T |
11: 75,967,861 (GRCm39) |
|
probably null |
Het |
| Zfp658 |
A |
G |
7: 43,223,500 (GRCm39) |
R592G |
possibly damaging |
Het |
| Zfyve1 |
T |
A |
12: 83,602,485 (GRCm39) |
|
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 |
|
|
IGL00539:Mta3
|
APN |
17 |
84,070,412 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL01722:Mta3
|
APN |
17 |
84,063,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2015-04-16 |
Incidental Mutation