Incidental Mutation 'R1414:Mxra8'
| ID |
159742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mxra8
|
| Ensembl Gene |
ENSMUSG00000029070 |
| Gene Name |
matrix-remodelling associated 8 |
| Synonyms |
1200013A08Rik, Asp3, limitrin, DICAM |
| MMRRC Submission |
039470-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1414 (G1)
|
| Quality Score |
129 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155924137-155928545 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155925464 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 58
(M58V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030947]
[ENSMUST00000141883]
|
| AlphaFold |
Q9DBV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030947
AA Change: M58V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030947
Gene: ENSMUSG00000029070
AA Change: M58V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
38 |
156 |
6.16e-4 |
SMART |
|
IG
|
170 |
291 |
9.71e-2 |
SMART |
|
transmembrane domain
|
340 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
384 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097740
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126487
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141766
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141883
AA Change: M55V
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114929
Gene: ENSMUSG00000029070
AA Change: M55V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
35 |
153 |
6.16e-4 |
SMART |
|
IG
|
167 |
288 |
9.71e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143886
|
| Meta Mutation Damage Score |
0.8025 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.2%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested in a high-throughput screen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap1 |
T |
A |
15: 64,030,733 (GRCm39) |
S315C |
possibly damaging |
Het |
| Cdc27 |
A |
G |
11: 104,412,251 (GRCm39) |
V452A |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dnajc10 |
C |
A |
2: 80,178,021 (GRCm39) |
T676K |
probably damaging |
Het |
| Efhc1 |
C |
T |
1: 21,031,513 (GRCm39) |
T237I |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,640,462 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,020,219 (GRCm39) |
D1069G |
probably benign |
Het |
| Hspa9 |
T |
C |
18: 35,071,644 (GRCm39) |
Y652C |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,377,857 (GRCm39) |
I313V |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,989,491 (GRCm39) |
E1537G |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,440,357 (GRCm39) |
M645V |
probably benign |
Het |
| Nlrp4d |
T |
A |
7: 10,116,528 (GRCm39) |
I118F |
probably benign |
Het |
| Oas1f |
A |
G |
5: 120,989,522 (GRCm39) |
|
probably benign |
Het |
| Pkp1 |
A |
G |
1: 135,811,823 (GRCm39) |
|
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,940,385 (GRCm39) |
Y428C |
probably damaging |
Het |
| Pomt1 |
C |
A |
2: 32,133,622 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
G |
A |
2: 166,435,781 (GRCm39) |
R589C |
probably damaging |
Het |
| Prr5 |
C |
T |
15: 84,583,912 (GRCm39) |
Q171* |
probably null |
Het |
| Ptar1 |
T |
A |
19: 23,697,655 (GRCm39) |
L389Q |
possibly damaging |
Het |
| Rufy2 |
T |
A |
10: 62,837,978 (GRCm39) |
L375* |
probably null |
Het |
| Slc22a1 |
G |
A |
17: 12,881,487 (GRCm39) |
S334L |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,548,524 (GRCm39) |
S45P |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Tafa4 |
A |
G |
6: 96,991,440 (GRCm39) |
V3A |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,883,932 (GRCm39) |
|
probably benign |
Het |
| Tpm3-rs7 |
T |
C |
14: 113,552,274 (GRCm39) |
I56T |
possibly damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,810,923 (GRCm39) |
C360* |
probably null |
Het |
| Zfp263 |
T |
C |
16: 3,567,160 (GRCm39) |
C204R |
probably damaging |
Het |
|
| Other mutations in Mxra8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Mxra8
|
APN |
4 |
155,927,020 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01871:Mxra8
|
APN |
4 |
155,927,258 (GRCm39) |
missense |
probably benign |
|
|
IGL02900:Mxra8
|
APN |
4 |
155,925,668 (GRCm39) |
splice site |
probably null |
|
|
IGL02900:Mxra8
|
APN |
4 |
155,925,576 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Buffet
|
UTSW |
4 |
155,927,593 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0206:Mxra8
|
UTSW |
4 |
155,927,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0206:Mxra8
|
UTSW |
4 |
155,927,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0513:Mxra8
|
UTSW |
4 |
155,926,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1318:Mxra8
|
UTSW |
4 |
155,925,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Mxra8
|
UTSW |
4 |
155,927,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2473:Mxra8
|
UTSW |
4 |
155,926,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4270:Mxra8
|
UTSW |
4 |
155,925,594 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4519:Mxra8
|
UTSW |
4 |
155,927,440 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4844:Mxra8
|
UTSW |
4 |
155,927,151 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4849:Mxra8
|
UTSW |
4 |
155,925,331 (GRCm39) |
intron |
probably benign |
|
|
R4912:Mxra8
|
UTSW |
4 |
155,925,361 (GRCm39) |
splice site |
probably null |
|
|
R4929:Mxra8
|
UTSW |
4 |
155,927,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Mxra8
|
UTSW |
4 |
155,925,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Mxra8
|
UTSW |
4 |
155,927,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5913:Mxra8
|
UTSW |
4 |
155,927,760 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6250:Mxra8
|
UTSW |
4 |
155,925,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6857:Mxra8
|
UTSW |
4 |
155,927,593 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7142:Mxra8
|
UTSW |
4 |
155,927,519 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7658:Mxra8
|
UTSW |
4 |
155,927,420 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7842:Mxra8
|
UTSW |
4 |
155,927,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8182:Mxra8
|
UTSW |
4 |
155,925,589 (GRCm39) |
nonsense |
probably null |
|
|
R8679:Mxra8
|
UTSW |
4 |
155,927,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9803:Mxra8
|
UTSW |
4 |
155,924,282 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGTGTCATGCTAGAACAGCTC -3'
(R):5'- TTGCCGTCGTGGAAAGCAGAAG -3'
Sequencing Primer
(F):5'- ACTCTCCCAGAACTTGTTAAGTGG -3'
(R):5'- GCAGAAGGCGACAGCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation