Incidental Mutation 'IGL00433:Mta3'
ID |
277600 |
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 # |
IGL00433
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,009,300 (GRCm39) |
V238A |
probably benign |
Het |
Bfar |
G |
A |
16: 13,516,827 (GRCm39) |
D350N |
probably benign |
Het |
C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
Camk1g |
T |
C |
1: 193,029,657 (GRCm39) |
|
probably benign |
Het |
Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
Cass4 |
T |
C |
2: 172,258,170 (GRCm39) |
L56P |
probably damaging |
Het |
Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
Csrp3 |
T |
C |
7: 48,480,440 (GRCm39) |
N175D |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
Leo1 |
C |
T |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
Slc6a7 |
C |
T |
18: 61,134,363 (GRCm39) |
|
probably null |
Het |
Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
Smg5 |
C |
T |
3: 88,258,735 (GRCm39) |
Q569* |
probably null |
Het |
Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
Wnt7a |
C |
T |
6: 91,342,973 (GRCm39) |
G303D |
probably damaging |
Het |
|
Other mutations in Mta3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |