Incidental Mutation 'IGL00539:Mta3'
ID |
13622 |
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 # |
IGL00539
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
84013592-84128945 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 84070412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 39
(R39Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067826]
[ENSMUST00000112349]
[ENSMUST00000112350]
[ENSMUST00000112352]
[ENSMUST00000176816]
[ENSMUST00000177069]
|
AlphaFold |
Q924K8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067826
AA Change: R190Q
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000068931 Gene: ENSMUSG00000055817 AA Change: R190Q
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 benign
Transcript: ENSMUST00000112349
AA Change: R191Q
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000107968 Gene: ENSMUSG00000055817 AA Change: R191Q
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: R191Q
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000107969 Gene: ENSMUSG00000055817 AA Change: R191Q
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: ENSMUST00000112352
AA Change: R191Q
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000107971 Gene: ENSMUSG00000055817 AA Change: R191Q
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: ENSMUST00000176816
AA Change: R39Q
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000135752 Gene: ENSMUSG00000055817 AA Change: R39Q
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
C |
A |
19: 8,985,272 (GRCm39) |
D2185E |
possibly damaging |
Het |
Camk2b |
A |
G |
11: 5,922,310 (GRCm39) |
S560P |
probably damaging |
Het |
Cdh13 |
C |
A |
8: 120,039,245 (GRCm39) |
N562K |
possibly damaging |
Het |
Cdhr4 |
A |
G |
9: 107,876,744 (GRCm39) |
Y771C |
probably damaging |
Het |
Ermap |
A |
G |
4: 119,041,114 (GRCm39) |
S299P |
probably damaging |
Het |
Fgd3 |
A |
G |
13: 49,429,119 (GRCm39) |
|
probably benign |
Het |
Fpr-rs4 |
T |
A |
17: 18,242,188 (GRCm39) |
L65Q |
probably damaging |
Het |
Hsph1 |
C |
T |
5: 149,542,254 (GRCm39) |
R723H |
possibly damaging |
Het |
Iqcb1 |
A |
G |
16: 36,678,873 (GRCm39) |
K396E |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,821,504 (GRCm39) |
T1424A |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,279,588 (GRCm39) |
S700G |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,569,728 (GRCm39) |
T263S |
possibly damaging |
Het |
Ncan |
G |
A |
8: 70,567,921 (GRCm39) |
P64S |
probably benign |
Het |
Pisd |
T |
C |
5: 32,895,756 (GRCm39) |
I441V |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,133,219 (GRCm39) |
H660R |
possibly damaging |
Het |
Polq |
A |
G |
16: 36,880,931 (GRCm39) |
T753A |
probably damaging |
Het |
Ptchd4 |
C |
T |
17: 42,627,817 (GRCm39) |
Q93* |
probably null |
Het |
Sfpq |
T |
C |
4: 126,917,481 (GRCm39) |
V437A |
possibly damaging |
Het |
Slc18b1 |
G |
A |
10: 23,700,659 (GRCm39) |
|
probably null |
Het |
Taf1c |
C |
T |
8: 120,328,067 (GRCm39) |
V277I |
possibly damaging |
Het |
Tcf20 |
T |
A |
15: 82,736,957 (GRCm39) |
Q1498L |
probably benign |
Het |
Tet1 |
C |
A |
10: 62,650,276 (GRCm39) |
C1644F |
probably damaging |
Het |
Trmt5 |
T |
C |
12: 73,331,693 (GRCm39) |
E121G |
possibly damaging |
Het |
Wapl |
A |
G |
14: 34,416,965 (GRCm39) |
D525G |
probably damaging |
Het |
Ylpm1 |
A |
G |
12: 85,075,728 (GRCm39) |
T360A |
possibly damaging |
Het |
Zfp292 |
G |
A |
4: 34,808,790 (GRCm39) |
P1418L |
probably damaging |
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 |
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 |
2012-12-06 |