Incidental Mutation 'R1208:Mta2'
| ID |
164841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mta2
|
| Ensembl Gene |
ENSMUSG00000071646 |
| Gene Name |
metastasis-associated gene family, member 2 |
| Synonyms |
mmta2, Mta1l1 |
| MMRRC Submission |
039277-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1208 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8919239-8929659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8928381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 560
(R560H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096239]
[ENSMUST00000096240]
|
| AlphaFold |
Q9R190 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096239
|
| SMART Domains |
Protein: ENSMUSP00000093958
Gene: ENSMUSG00000071645
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
16 |
40 |
1.53e-1 |
SMART |
|
RRM
|
57 |
124 |
2.02e-10 |
SMART |
|
SCOP:d1f5aa2
|
173 |
221 |
1e-3 |
SMART |
|
low complexity region
|
242 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
Pfam:PAP_assoc
|
493 |
552 |
2.7e-8 |
PFAM |
|
low complexity region
|
594 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
767 |
782 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096240
AA Change: R560H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093959
Gene: ENSMUSG00000071646
AA Change: R560H
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
144 |
7.34e-34 |
SMART |
|
ELM2
|
147 |
201 |
5.58e-15 |
SMART |
|
SANT
|
264 |
313 |
2.24e-7 |
SMART |
|
ZnF_GATA
|
361 |
415 |
5.5e-15 |
SMART |
|
low complexity region
|
475 |
490 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169535
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. One of the proteins known to be a target protein for this gene product is p53. Deacetylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit partial embryonic and perinatal lethality, reduced weight, shortened lifespan, and increased susceptibility to systemic lupus erythematosus with increased T cell proliferation under Th2 conditions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
C |
A |
7: 29,260,708 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm3 |
C |
T |
3: 59,772,715 (GRCm39) |
P73L |
probably benign |
Het |
| Asb14 |
T |
C |
14: 26,622,375 (GRCm39) |
|
probably benign |
Het |
| Atp13a3 |
A |
T |
16: 30,173,065 (GRCm39) |
C271S |
probably benign |
Het |
| Ccl25 |
T |
A |
8: 4,407,631 (GRCm39) |
S199T |
possibly damaging |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cep104 |
A |
T |
4: 154,069,836 (GRCm39) |
D270V |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,327,877 (GRCm39) |
Y2084N |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,755,592 (GRCm39) |
V214A |
probably benign |
Het |
| Epb41l4b |
C |
T |
4: 57,077,252 (GRCm39) |
|
probably null |
Het |
| Gys2 |
A |
G |
6: 142,396,193 (GRCm39) |
|
probably null |
Het |
| Lig4 |
T |
C |
8: 10,021,062 (GRCm39) |
E906G |
probably damaging |
Het |
| Mast3 |
G |
A |
8: 71,240,916 (GRCm39) |
|
probably null |
Het |
| Myom2 |
T |
C |
8: 15,134,631 (GRCm39) |
L478P |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,193,912 (GRCm39) |
L673* |
probably null |
Het |
| Niban3 |
A |
T |
8: 72,053,119 (GRCm39) |
T125S |
probably damaging |
Het |
| Or4c35 |
G |
A |
2: 89,808,836 (GRCm39) |
C238Y |
probably damaging |
Het |
| Pdpk1 |
C |
A |
17: 24,312,583 (GRCm39) |
|
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,357,610 (GRCm39) |
W162R |
probably damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,811,339 (GRCm39) |
V183A |
probably damaging |
Het |
| Recql5 |
T |
C |
11: 115,783,982 (GRCm39) |
K951E |
probably damaging |
Het |
| Rev1 |
T |
C |
1: 38,098,199 (GRCm39) |
|
probably benign |
Het |
| Slc25a25 |
T |
C |
2: 32,307,437 (GRCm39) |
E309G |
probably benign |
Het |
| Slc25a36 |
T |
C |
9: 96,967,188 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,998,421 (GRCm39) |
I1033N |
possibly damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,984,783 (GRCm39) |
N120K |
probably benign |
Het |
| Unc5b |
A |
T |
10: 60,602,771 (GRCm39) |
L876Q |
probably damaging |
Het |
| Usp9y |
T |
C |
Y: 1,356,282 (GRCm39) |
T1140A |
probably benign |
Homo |
| Vmn1r40 |
A |
G |
6: 89,691,326 (GRCm39) |
I48V |
probably benign |
Het |
| Zbbx |
T |
C |
3: 74,945,299 (GRCm39) |
I708V |
possibly damaging |
Het |
| Zfp318 |
AGAAGA |
AGAAGAGGAAGA |
17: 46,723,446 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mta2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:Mta2
|
APN |
19 |
8,924,465 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01098:Mta2
|
APN |
19 |
8,924,081 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01148:Mta2
|
APN |
19 |
8,925,668 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01897:Mta2
|
APN |
19 |
8,925,130 (GRCm39) |
nonsense |
probably null |
|
|
IGL02054:Mta2
|
APN |
19 |
8,928,276 (GRCm39) |
missense |
probably benign |
|
|
IGL02157:Mta2
|
APN |
19 |
8,924,613 (GRCm39) |
splice site |
probably benign |
|
|
IGL02452:Mta2
|
APN |
19 |
8,927,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02563:Mta2
|
APN |
19 |
8,925,415 (GRCm39) |
missense |
probably benign |
|
|
IGL02626:Mta2
|
APN |
19 |
8,926,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02695:Mta2
|
APN |
19 |
8,925,728 (GRCm39) |
missense |
probably benign |
0.01 |
|
Pecan
|
UTSW |
19 |
8,925,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1208:Mta2
|
UTSW |
19 |
8,928,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1301:Mta2
|
UTSW |
19 |
8,926,550 (GRCm39) |
splice site |
probably benign |
|
|
R1731:Mta2
|
UTSW |
19 |
8,925,088 (GRCm39) |
splice site |
probably null |
|
|
R1990:Mta2
|
UTSW |
19 |
8,919,696 (GRCm39) |
unclassified |
probably benign |
|
|
R2116:Mta2
|
UTSW |
19 |
8,920,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Mta2
|
UTSW |
19 |
8,920,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Mta2
|
UTSW |
19 |
8,925,492 (GRCm39) |
splice site |
probably null |
|
|
R4710:Mta2
|
UTSW |
19 |
8,926,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Mta2
|
UTSW |
19 |
8,923,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Mta2
|
UTSW |
19 |
8,923,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Mta2
|
UTSW |
19 |
8,923,655 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4999:Mta2
|
UTSW |
19 |
8,927,747 (GRCm39) |
missense |
probably benign |
|
|
R5340:Mta2
|
UTSW |
19 |
8,919,720 (GRCm39) |
start codon destroyed |
probably null |
0.89 |
|
R5518:Mta2
|
UTSW |
19 |
8,925,456 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6044:Mta2
|
UTSW |
19 |
8,925,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7096:Mta2
|
UTSW |
19 |
8,925,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Mta2
|
UTSW |
19 |
8,923,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7919:Mta2
|
UTSW |
19 |
8,926,498 (GRCm39) |
nonsense |
probably null |
|
|
R7992:Mta2
|
UTSW |
19 |
8,925,151 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8198:Mta2
|
UTSW |
19 |
8,925,145 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8476:Mta2
|
UTSW |
19 |
8,928,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9069:Mta2
|
UTSW |
19 |
8,924,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGGTGCTGTAGATCAAAACCC -3'
(R):5'- CTTGAACGAATCCCTGAAGCCAGAG -3'
Sequencing Primer
(F):5'- gctgtagatcaaaacccagaacc -3'
(R):5'- GGCCTTCCATTGGCAGAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation