Incidental Mutation 'R8136:Mta1'
| ID |
632269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mta1
|
| Ensembl Gene |
ENSMUSG00000021144 |
| Gene Name |
metastasis associated 1 |
| Synonyms |
|
| MMRRC Submission |
067564-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
113061898-113100826 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 113095298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 484
(R484S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009099]
[ENSMUST00000069690]
[ENSMUST00000109723]
[ENSMUST00000109726]
[ENSMUST00000109727]
|
| AlphaFold |
Q8K4B0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009099
AA Change: R484S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000009099
Gene: ENSMUSG00000021144
AA Change: R484S
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
164 |
1.85e-30 |
SMART |
|
ELM2
|
167 |
221 |
2.36e-13 |
SMART |
|
SANT
|
284 |
333 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
387 |
441 |
2.6e-16 |
SMART |
|
low complexity region
|
545 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
705 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069690
AA Change: R467S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000064338
Gene: ENSMUSG00000021144
AA Change: R467S
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
147 |
2.7e-32 |
SMART |
|
ELM2
|
150 |
204 |
2.36e-13 |
SMART |
|
SANT
|
267 |
316 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
370 |
424 |
2.6e-16 |
SMART |
|
low complexity region
|
528 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
688 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109723
AA Change: R484S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105345
Gene: ENSMUSG00000021144
AA Change: R484S
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
164 |
1.85e-30 |
SMART |
|
ELM2
|
167 |
221 |
2.36e-13 |
SMART |
|
SANT
|
284 |
333 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
387 |
441 |
2.6e-16 |
SMART |
|
low complexity region
|
545 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
693 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109726
AA Change: R467S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105348
Gene: ENSMUSG00000021144
AA Change: R467S
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
147 |
2.7e-32 |
SMART |
|
ELM2
|
150 |
204 |
2.36e-13 |
SMART |
|
SANT
|
267 |
316 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
370 |
424 |
2.6e-16 |
SMART |
|
low complexity region
|
528 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
688 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109727
AA Change: R484S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105349
Gene: ENSMUSG00000021144
AA Change: R484S
| Domain | Start | End | E-Value | Type |
|---|
|
BAH
|
4 |
164 |
1.85e-30 |
SMART |
|
ELM2
|
167 |
221 |
2.36e-13 |
SMART |
|
SANT
|
284 |
333 |
2.62e-8 |
SMART |
|
ZnF_GATA
|
387 |
441 |
2.6e-16 |
SMART |
|
low complexity region
|
545 |
565 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
693 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.7%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was identified in a screen for genes expressed in metastatic cells, specifically, mammary adenocarcinoma cell lines. Expression of this gene has been correlated with the metastatic potential of at least two types of carcinomas although it is also expressed in many normal tissues. The role it plays in metastasis is unclear. It was initially thought to be the 70kD component of a nucleosome remodeling deacetylase complex, NuRD, but it is more likely that this component is a different but very similar protein. These two proteins are so closely related, though, 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. The profile and activity of this gene product suggest that it is involved in regulating transcription and that this may be accomplished by chromatin remodeling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased cellular sensitivity to ionizing radiation and increased retinal cell proliferation at E14.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,287,556 (GRCm39) |
M2462L |
probably benign |
Het |
| Aptx |
A |
G |
4: 40,688,107 (GRCm39) |
|
probably null |
Het |
| Bmpr1b |
A |
G |
3: 141,562,143 (GRCm39) |
I348T |
probably damaging |
Het |
| Btnl1 |
T |
A |
17: 34,599,014 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
T |
A |
4: 63,202,190 (GRCm39) |
D960E |
probably benign |
Het |
| Crygn |
G |
T |
5: 24,956,090 (GRCm39) |
R172S |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,689,654 (GRCm39) |
I450T |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,375,202 (GRCm39) |
Y233C |
probably benign |
Het |
| Esyt2 |
C |
A |
12: 116,327,079 (GRCm39) |
T549K |
probably benign |
Het |
| Garin5a |
T |
C |
7: 44,149,704 (GRCm39) |
F142L |
probably damaging |
Het |
| Gatm |
T |
C |
2: 122,426,018 (GRCm39) |
D411G |
probably damaging |
Het |
| Gpr65 |
T |
C |
12: 98,241,415 (GRCm39) |
Y23H |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,415,321 (GRCm39) |
R1752G |
probably benign |
Het |
| Krtap4-1 |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC |
11: 99,518,660 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,751,492 (GRCm39) |
S620A |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,487,439 (GRCm39) |
*543Q |
probably null |
Het |
| Mfsd2a |
A |
T |
4: 122,845,660 (GRCm39) |
C164S |
probably benign |
Het |
| Nlrp9a |
T |
G |
7: 26,256,678 (GRCm39) |
F99V |
probably benign |
Het |
| Notch2 |
G |
A |
3: 98,031,537 (GRCm39) |
C1137Y |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,448 (GRCm39) |
M120K |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 81,964,780 (GRCm39) |
T316A |
probably benign |
Het |
| Peds1 |
A |
C |
2: 167,486,879 (GRCm39) |
Y167D |
probably benign |
Het |
| Phf11a |
A |
G |
14: 59,515,018 (GRCm39) |
V221A |
probably benign |
Het |
| Pigb |
A |
G |
9: 72,929,602 (GRCm39) |
L327P |
possibly damaging |
Het |
| Rab3c |
A |
T |
13: 110,317,554 (GRCm39) |
Y110* |
probably null |
Het |
| Sdk2 |
G |
A |
11: 113,742,539 (GRCm39) |
T790M |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,261,222 (GRCm39) |
K131R |
probably benign |
Het |
| Slc22a2 |
C |
T |
17: 12,824,917 (GRCm39) |
P260S |
probably damaging |
Het |
| Sppl2a |
T |
C |
2: 126,755,201 (GRCm39) |
|
probably null |
Het |
| Tnn |
T |
A |
1: 159,934,630 (GRCm39) |
Q1261L |
probably damaging |
Het |
| Treml4 |
C |
A |
17: 48,571,745 (GRCm39) |
Y49* |
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,851,523 (GRCm39) |
I1827T |
probably damaging |
Het |
| Vrtn |
C |
T |
12: 84,696,809 (GRCm39) |
R520C |
probably damaging |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Wls |
C |
A |
3: 159,578,761 (GRCm39) |
Q108K |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,228 (GRCm39) |
V178D |
probably damaging |
Het |
| Zfp777 |
C |
A |
6: 48,021,559 (GRCm39) |
R21L |
probably benign |
Het |
|
| Other mutations in Mta1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02227:Mta1
|
APN |
12 |
113,084,528 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02250:Mta1
|
APN |
12 |
113,090,418 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02391:Mta1
|
APN |
12 |
113,100,203 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02670:Mta1
|
APN |
12 |
113,093,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Mta1
|
UTSW |
12 |
113,096,870 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0361:Mta1
|
UTSW |
12 |
113,096,961 (GRCm39) |
splice site |
probably null |
|
|
R0496:Mta1
|
UTSW |
12 |
113,094,941 (GRCm39) |
nonsense |
probably null |
|
|
R1774:Mta1
|
UTSW |
12 |
113,091,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Mta1
|
UTSW |
12 |
113,091,694 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1976:Mta1
|
UTSW |
12 |
113,099,926 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2110:Mta1
|
UTSW |
12 |
113,095,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Mta1
|
UTSW |
12 |
113,095,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Mta1
|
UTSW |
12 |
113,093,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2274:Mta1
|
UTSW |
12 |
113,091,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4087:Mta1
|
UTSW |
12 |
113,075,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4231:Mta1
|
UTSW |
12 |
113,099,447 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4916:Mta1
|
UTSW |
12 |
113,100,160 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5032:Mta1
|
UTSW |
12 |
113,097,145 (GRCm39) |
splice site |
probably null |
|
|
R5271:Mta1
|
UTSW |
12 |
113,095,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5344:Mta1
|
UTSW |
12 |
113,095,186 (GRCm39) |
splice site |
probably benign |
|
|
R5392:Mta1
|
UTSW |
12 |
113,096,856 (GRCm39) |
missense |
probably benign |
|
|
R5656:Mta1
|
UTSW |
12 |
113,086,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5903:Mta1
|
UTSW |
12 |
113,100,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:Mta1
|
UTSW |
12 |
113,086,739 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7091:Mta1
|
UTSW |
12 |
113,100,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Mta1
|
UTSW |
12 |
113,090,418 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7408:Mta1
|
UTSW |
12 |
113,095,088 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7889:Mta1
|
UTSW |
12 |
113,095,308 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8176:Mta1
|
UTSW |
12 |
113,084,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8385:Mta1
|
UTSW |
12 |
113,095,085 (GRCm39) |
missense |
probably benign |
|
|
R8398:Mta1
|
UTSW |
12 |
113,095,242 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9132:Mta1
|
UTSW |
12 |
113,100,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9159:Mta1
|
UTSW |
12 |
113,100,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9418:Mta1
|
UTSW |
12 |
113,094,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9489:Mta1
|
UTSW |
12 |
113,095,085 (GRCm39) |
missense |
probably benign |
|
|
R9596:Mta1
|
UTSW |
12 |
113,090,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9682:Mta1
|
UTSW |
12 |
113,095,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1088:Mta1
|
UTSW |
12 |
113,096,820 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCAATAACATGGTAAGTGGG -3'
(R):5'- GTGAAGAACCATGTTCCCCAAG -3'
Sequencing Primer
(F):5'- TGGGACACACCATACTGATCTG -3'
(R):5'- GAACCTGTACCCCAACCTGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation