Incidental Mutation 'R2447:Mta3'
| ID |
248910 |
| 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 # |
R2447 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
84013592-84128945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84111973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 567
(T567I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067826]
[ENSMUST00000112352]
[ENSMUST00000176816]
[ENSMUST00000177069]
|
| AlphaFold |
Q924K8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067826
AA Change: T566I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000068931
Gene: ENSMUSG00000055817
AA Change: T566I
| 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: ENSMUST00000112352
AA Change: T567I
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107971
Gene: ENSMUSG00000055817
AA Change: T567I
| 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 |
noncoding transcript
Transcript: ENSMUST00000175920
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176054
AA Change: T225I
|
| SMART Domains |
Protein: ENSMUSP00000134775
Gene: ENSMUSG00000055817
AA Change: T225I
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_GATA
|
31 |
85 |
8.33e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176816
|
| SMART Domains |
Protein: ENSMUSP00000135752
Gene: ENSMUSG00000055817
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Foxo3 |
T |
C |
10: 42,073,816 (GRCm39) |
I15V |
probably benign |
Het |
| Gm12888 |
A |
T |
4: 121,175,547 (GRCm39) |
D78E |
possibly damaging |
Het |
| Gm4952 |
T |
A |
19: 12,595,770 (GRCm39) |
N53K |
possibly damaging |
Het |
| Hrg |
A |
T |
16: 22,779,898 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Panx1 |
A |
G |
9: 14,956,185 (GRCm39) |
I50T |
probably damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,102,995 (GRCm39) |
F1114L |
probably benign |
Het |
| Phf6 |
C |
G |
X: 52,042,435 (GRCm39) |
Q279E |
probably benign |
Het |
| Phip |
A |
G |
9: 82,797,452 (GRCm39) |
V517A |
probably damaging |
Het |
| Psmb5 |
C |
T |
14: 54,851,927 (GRCm39) |
V86I |
probably damaging |
Het |
| R3hdm1 |
T |
A |
1: 128,114,666 (GRCm39) |
|
probably benign |
Het |
| Sfmbt1 |
A |
G |
14: 30,495,850 (GRCm39) |
I44M |
possibly damaging |
Het |
| Tmem89 |
A |
T |
9: 108,743,868 (GRCm39) |
D56V |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tshz3 |
T |
A |
7: 36,468,178 (GRCm39) |
C56S |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,778,284 (GRCm39) |
A1322S |
probably damaging |
Het |
| Ubr3 |
C |
T |
2: 69,833,724 (GRCm39) |
H188Y |
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 |
|
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 |
|
|
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'- ATGTGCGCCTATTAGCTGTG -3'
(R):5'- AGCAGCCTTACCCTTCATG -3'
Sequencing Primer
(F):5'- CGCCTATTAGCTGTGTTAGAGTC -3'
(R):5'- CAAACTCATTTGGTGGCCAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation