Incidental Mutation 'R2373:Mta3'
ID |
248216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mta3
|
Ensembl Gene |
ENSMUSG00000055817 |
Gene Name |
metastasis associated 3 |
Synonyms |
1110002J22Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.506)
|
Stock # |
R2373 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
84013592-84128945 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 84091730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 179
(E179*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067826]
[ENSMUST00000112349]
[ENSMUST00000112350]
[ENSMUST00000112352]
[ENSMUST00000176816]
[ENSMUST00000177069]
|
AlphaFold |
Q924K8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000067826
AA Change: E330*
|
SMART Domains |
Protein: ENSMUSP00000068931 Gene: ENSMUSG00000055817 AA Change: E330*
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 null
Transcript: ENSMUST00000112349
AA Change: E331*
|
SMART Domains |
Protein: ENSMUSP00000107968 Gene: ENSMUSG00000055817 AA Change: E331*
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 null
Transcript: ENSMUST00000112350
AA Change: E331*
|
SMART Domains |
Protein: ENSMUSP00000107969 Gene: ENSMUSG00000055817 AA Change: E331*
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 null
Transcript: ENSMUST00000112352
AA Change: E331*
|
SMART Domains |
Protein: ENSMUSP00000107971 Gene: ENSMUSG00000055817 AA Change: E331*
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: ENSMUST00000176054
|
SMART Domains |
Protein: ENSMUSP00000134775 Gene: ENSMUSG00000055817
Domain | Start | End | E-Value | Type |
ZnF_GATA
|
31 |
85 |
8.33e-15 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176816
AA Change: E179*
|
SMART Domains |
Protein: ENSMUSP00000135752 Gene: ENSMUSG00000055817 AA Change: E179*
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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
9130023H24Rik |
A |
T |
7: 127,836,487 (GRCm39) |
D35E |
probably benign |
Het |
9330159F19Rik |
A |
G |
10: 29,101,039 (GRCm39) |
N471D |
probably benign |
Het |
Ahctf1 |
A |
T |
1: 179,623,361 (GRCm39) |
F86I |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,473,457 (GRCm39) |
T849A |
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,244,367 (GRCm39) |
D965E |
probably damaging |
Het |
Asxl1 |
A |
G |
2: 153,243,820 (GRCm39) |
T1458A |
probably benign |
Het |
Cdc42bpa |
A |
T |
1: 179,939,349 (GRCm39) |
M876L |
possibly damaging |
Het |
Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
Col12a1 |
A |
T |
9: 79,564,095 (GRCm39) |
V1710E |
probably benign |
Het |
Corin |
G |
A |
5: 72,496,381 (GRCm39) |
S524L |
probably damaging |
Het |
Dennd2c |
A |
G |
3: 103,064,158 (GRCm39) |
H658R |
probably damaging |
Het |
Disp3 |
A |
G |
4: 148,343,252 (GRCm39) |
V553A |
probably damaging |
Het |
Dpm2 |
T |
C |
2: 32,462,457 (GRCm39) |
F81S |
probably benign |
Het |
Emc2 |
T |
A |
15: 43,377,154 (GRCm39) |
I239N |
probably damaging |
Het |
Fhip1a |
C |
T |
3: 85,583,404 (GRCm39) |
W464* |
probably null |
Het |
Fzd5 |
C |
T |
1: 64,774,066 (GRCm39) |
G565D |
probably damaging |
Het |
Gpld1 |
T |
C |
13: 25,146,839 (GRCm39) |
F267S |
probably benign |
Het |
Kif14 |
C |
A |
1: 136,407,583 (GRCm39) |
A46E |
probably damaging |
Het |
Ninl |
T |
G |
2: 150,822,037 (GRCm39) |
T22P |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,480,190 (GRCm39) |
N2039S |
probably damaging |
Het |
Rc3h2 |
A |
G |
2: 37,269,013 (GRCm39) |
S818P |
possibly damaging |
Het |
Scn11a |
T |
A |
9: 119,642,252 (GRCm39) |
E162D |
probably benign |
Het |
Slc5a7 |
A |
T |
17: 54,584,154 (GRCm39) |
W379R |
probably damaging |
Het |
Sptb |
C |
T |
12: 76,667,935 (GRCm39) |
V721M |
probably damaging |
Het |
Vmn1r82 |
T |
A |
7: 12,038,982 (GRCm39) |
V85E |
probably damaging |
Het |
Vmn2r130 |
T |
C |
17: 23,280,480 (GRCm39) |
I47T |
possibly damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,518,665 (GRCm39) |
F41L |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGTTCAGAAGCTAATGGC -3'
(R):5'- GACACTTGCCCTGTAGCTTC -3'
Sequencing Primer
(F):5'- GGCTCTCTTAAAAGTTACTGAGGC -3'
(R):5'- CCCAAAGTTGTTGCGTAGGAC -3'
|
Posted On |
2014-11-11 |