Incidental Mutation 'R0206:Mxra8'
ID |
66378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mxra8
|
Ensembl Gene |
ENSMUSG00000029070 |
Gene Name |
matrix-remodelling associated 8 |
Synonyms |
1200013A08Rik, Asp3, limitrin, DICAM |
MMRRC Submission |
038459-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0206 (G1)
|
Quality Score |
88 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155924137-155928545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155927053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 329
(I329N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030947]
[ENSMUST00000030948]
[ENSMUST00000168552]
[ENSMUST00000141883]
|
AlphaFold |
Q9DBV4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030947
AA Change: I329N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000030947 Gene: ENSMUSG00000029070 AA Change: I329N
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 |
probably benign
Transcript: ENSMUST00000030948
|
SMART Domains |
Protein: ENSMUSP00000030948 Gene: ENSMUSG00000029071
Domain | Start | End | E-Value | Type |
DAX
|
1 |
85 |
2.17e-52 |
SMART |
Pfam:Dishevelled
|
144 |
215 |
1.1e-31 |
PFAM |
low complexity region
|
217 |
233 |
N/A |
INTRINSIC |
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
PDZ
|
260 |
339 |
3.13e-16 |
SMART |
low complexity region
|
380 |
397 |
N/A |
INTRINSIC |
DEP
|
425 |
499 |
1.47e-26 |
SMART |
Pfam:Dsh_C
|
503 |
685 |
4.2e-67 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097740
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126487
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132142
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133184
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133592
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141539
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141766
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168552
|
SMART Domains |
Protein: ENSMUSP00000133137 Gene: ENSMUSG00000029071
Domain | Start | End | E-Value | Type |
DAX
|
1 |
85 |
2.17e-52 |
SMART |
Pfam:Dishevelled
|
90 |
247 |
1.7e-60 |
PFAM |
PDZ
|
260 |
339 |
3.13e-16 |
SMART |
low complexity region
|
380 |
397 |
N/A |
INTRINSIC |
DEP
|
425 |
499 |
1.47e-26 |
SMART |
Pfam:Dsh_C
|
503 |
685 |
7.6e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141883
|
SMART Domains |
Protein: ENSMUSP00000114929 Gene: ENSMUSG00000029070
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 |
|
Meta Mutation Damage Score |
0.8998 |
Coding Region Coverage |
- 1x: 95.8%
- 3x: 87.0%
- 10x: 38.5%
- 20x: 5.3%
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
G |
A |
17: 48,470,486 (GRCm39) |
T165I |
probably benign |
Het |
Adam26a |
A |
C |
8: 44,023,455 (GRCm39) |
F12V |
possibly damaging |
Het |
Aldh1l1 |
T |
C |
6: 90,546,848 (GRCm39) |
F384L |
possibly damaging |
Het |
Cit |
A |
T |
5: 116,132,089 (GRCm39) |
N1782Y |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
Gm20441 |
A |
G |
10: 75,608,719 (GRCm39) |
M1T |
probably null |
Het |
Inhca |
A |
G |
9: 103,159,861 (GRCm39) |
C5R |
probably damaging |
Het |
Inpp5k |
T |
C |
11: 75,521,969 (GRCm39) |
I15T |
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
Me3 |
A |
T |
7: 89,498,868 (GRCm39) |
T483S |
probably benign |
Het |
Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
Myom1 |
T |
C |
17: 71,344,292 (GRCm39) |
S266P |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
Or52b1 |
A |
T |
7: 104,979,090 (GRCm39) |
M103K |
possibly damaging |
Het |
Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
Or6f1 |
T |
C |
7: 85,970,854 (GRCm39) |
Y102C |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
Zkscan1 |
T |
A |
5: 138,099,448 (GRCm39) |
C391S |
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 |
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 |
R1414:Mxra8
|
UTSW |
4 |
155,925,464 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
Posted On |
2013-08-19 |