Incidental Mutation 'R6555:Mta3'
| ID |
522126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mta3
|
| Ensembl Gene |
ENSMUSG00000055817 |
| Gene Name |
metastasis associated 3 |
| Synonyms |
1110002J22Rik |
| MMRRC Submission |
044680-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.506)
|
| Stock # |
R6555 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
84013592-84128945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84015875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 26
(R26W)
|
| 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: R26W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068931
Gene: ENSMUSG00000055817
AA Change: R26W
| 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: R26W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107968
Gene: ENSMUSG00000055817
AA Change: R26W
| 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: R26W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107969
Gene: ENSMUSG00000055817
AA Change: R26W
| 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: R26W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107971
Gene: ENSMUSG00000055817
AA Change: R26W
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,468 (GRCm39) |
I480V |
probably damaging |
Het |
| Akap1 |
A |
T |
11: 88,735,708 (GRCm39) |
I351N |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,742 (GRCm39) |
M256V |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,498,258 (GRCm39) |
C421S |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,302,235 (GRCm39) |
D2631G |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,719,049 (GRCm39) |
V319A |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,736,694 (GRCm39) |
W707R |
probably damaging |
Het |
| Ctss |
T |
A |
3: 95,450,340 (GRCm39) |
L97* |
probably null |
Het |
| Eif2ak4 |
A |
T |
2: 118,258,350 (GRCm39) |
N455Y |
probably damaging |
Het |
| Ercc6 |
G |
A |
14: 32,239,064 (GRCm39) |
E51K |
probably benign |
Het |
| Gm10318 |
G |
A |
10: 77,688,855 (GRCm39) |
|
probably benign |
Het |
| Gp6 |
C |
T |
7: 4,387,929 (GRCm39) |
R180Q |
probably damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,333,902 (GRCm39) |
I25V |
probably damaging |
Het |
| Igkv1-99 |
A |
G |
6: 68,519,300 (GRCm39) |
R85G |
probably damaging |
Het |
| Il36a |
G |
A |
2: 24,114,611 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
T |
C |
6: 121,361,178 (GRCm39) |
H935R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,380,965 (GRCm39) |
V94A |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,339,647 (GRCm39) |
K1088R |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Lyst |
A |
G |
13: 13,823,510 (GRCm39) |
N1494S |
probably benign |
Het |
| Nup88 |
T |
C |
11: 70,835,006 (GRCm39) |
R660G |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or4q3 |
G |
A |
14: 50,583,303 (GRCm39) |
Q168* |
probably null |
Het |
| Or5d16 |
T |
A |
2: 87,773,632 (GRCm39) |
E113D |
probably damaging |
Het |
| Or8b51 |
C |
A |
9: 38,569,585 (GRCm39) |
M34I |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,882,488 (GRCm39) |
T750A |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,937,473 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
T |
C |
2: 121,168,093 (GRCm39) |
E720G |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,140 (GRCm39) |
I133M |
possibly damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,190,820 (GRCm39) |
Y786H |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,874,600 (GRCm39) |
V614A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,889,982 (GRCm39) |
|
probably null |
Het |
| Selp |
C |
T |
1: 163,969,171 (GRCm39) |
|
probably null |
Het |
| Slc16a10 |
T |
C |
10: 39,956,774 (GRCm39) |
I122V |
probably benign |
Het |
| Slc22a22 |
G |
A |
15: 57,122,527 (GRCm39) |
T131M |
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,071,067 (GRCm39) |
I574F |
probably benign |
Het |
| Tsen54 |
C |
T |
11: 115,711,519 (GRCm39) |
T156I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,846,993 (GRCm39) |
N2592S |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,547,856 (GRCm39) |
R131H |
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 |
|
|
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 |
|
|
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'- ACGCATAGGGAATTGTAGCCC -3'
(R):5'- GCCTGATCTTCAAGGTTCAAAGC -3'
Sequencing Primer
(F):5'- TCTGGTGAACAAGGCAAGCTCTC -3'
(R):5'- CTTCAAGGTTCAAAGCAATCTGAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation