Incidental Mutation 'IGL01871:Mxra8'
| ID |
178706 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mxra8
|
| Ensembl Gene |
ENSMUSG00000029070 |
| Gene Name |
matrix-remodelling associated 8 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01871
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
155839680-155844088 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 155842801 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 372
(T372A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030947]
[ENSMUST00000030948]
[ENSMUST00000141883]
[ENSMUST00000168552]
|
| AlphaFold |
Q9DBV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030947
AA Change: T372A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030947
Gene: ENSMUSG00000029070
AA Change: T372A
| 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: ENSMUST00000141539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141766
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143886
|
| 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 |
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,472,394 (GRCm38) |
|
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,045,321 (GRCm38) |
R20* |
probably null |
Het |
| Asxl2 |
G |
T |
12: 3,502,112 (GRCm38) |
V1285L |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,066,053 (GRCm38) |
S688T |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,688,969 (GRCm38) |
I357F |
probably damaging |
Het |
| Clasp1 |
A |
T |
1: 118,570,889 (GRCm38) |
I884F |
probably damaging |
Het |
| Cpne4 |
T |
G |
9: 104,925,757 (GRCm38) |
M200R |
possibly damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,403,885 (GRCm38) |
D180V |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,704,180 (GRCm38) |
V1042D |
probably damaging |
Het |
| Dlc1 |
G |
A |
8: 36,850,180 (GRCm38) |
T447I |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,763,319 (GRCm38) |
M972T |
possibly damaging |
Het |
| Erbin |
A |
G |
13: 103,834,766 (GRCm38) |
S781P |
probably damaging |
Het |
| Fam46b |
A |
G |
4: 133,486,309 (GRCm38) |
I164V |
possibly damaging |
Het |
| Galnt4 |
G |
A |
10: 99,109,241 (GRCm38) |
G276D |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm38) |
Y194F |
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,437,017 (GRCm38) |
I41V |
probably damaging |
Het |
| Golga1 |
C |
T |
2: 39,050,198 (GRCm38) |
|
probably benign |
Het |
| H2-Ob |
G |
T |
17: 34,242,545 (GRCm38) |
W86L |
probably damaging |
Het |
| Hnrnpr |
G |
A |
4: 136,339,574 (GRCm38) |
R482H |
unknown |
Het |
| L2hgdh |
T |
C |
12: 69,722,095 (GRCm38) |
E81G |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,811,897 (GRCm38) |
V389A |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,688,581 (GRCm38) |
S593R |
probably benign |
Het |
| Ndufaf1 |
C |
T |
2: 119,658,287 (GRCm38) |
W250* |
probably null |
Het |
| Neb |
T |
C |
2: 52,153,069 (GRCm38) |
E6783G |
probably damaging |
Het |
| Nmt2 |
T |
C |
2: 3,312,674 (GRCm38) |
Y175H |
probably damaging |
Het |
| Olfml2b |
T |
C |
1: 170,662,355 (GRCm38) |
|
probably benign |
Het |
| Pitpnm3 |
T |
A |
11: 72,056,138 (GRCm38) |
M812L |
probably damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,134,473 (GRCm38) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,783,087 (GRCm38) |
T2871A |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,198,360 (GRCm38) |
T392A |
possibly damaging |
Het |
| Rhov |
G |
T |
2: 119,270,738 (GRCm38) |
Q71K |
probably benign |
Het |
| Slc22a15 |
T |
C |
3: 101,860,794 (GRCm38) |
|
probably benign |
Het |
| Spaca1 |
T |
A |
4: 34,040,894 (GRCm38) |
N22Y |
probably damaging |
Het |
| Stmnd1 |
A |
G |
13: 46,289,713 (GRCm38) |
E107G |
probably damaging |
Het |
| Timm22 |
T |
C |
11: 76,407,437 (GRCm38) |
V78A |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 112,077,786 (GRCm38) |
|
probably benign |
Het |
| Utp4 |
A |
C |
8: 106,912,317 (GRCm38) |
K419T |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,325,791 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Mxra8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Mxra8
|
APN |
4 |
155,842,563 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02900:Mxra8
|
APN |
4 |
155,841,211 (GRCm38) |
splice site |
probably null |
|
|
IGL02900:Mxra8
|
APN |
4 |
155,841,119 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
Buffet
|
UTSW |
4 |
155,843,136 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0206:Mxra8
|
UTSW |
4 |
155,842,596 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0206:Mxra8
|
UTSW |
4 |
155,842,596 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0513:Mxra8
|
UTSW |
4 |
155,841,733 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1318:Mxra8
|
UTSW |
4 |
155,841,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1414:Mxra8
|
UTSW |
4 |
155,841,007 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1775:Mxra8
|
UTSW |
4 |
155,843,074 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2473:Mxra8
|
UTSW |
4 |
155,842,043 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4270:Mxra8
|
UTSW |
4 |
155,841,137 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4519:Mxra8
|
UTSW |
4 |
155,842,983 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4844:Mxra8
|
UTSW |
4 |
155,842,694 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4849:Mxra8
|
UTSW |
4 |
155,840,874 (GRCm38) |
intron |
probably benign |
|
|
R4912:Mxra8
|
UTSW |
4 |
155,840,904 (GRCm38) |
splice site |
probably null |
|
|
R4929:Mxra8
|
UTSW |
4 |
155,842,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5567:Mxra8
|
UTSW |
4 |
155,841,008 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5665:Mxra8
|
UTSW |
4 |
155,842,921 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5913:Mxra8
|
UTSW |
4 |
155,843,303 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6250:Mxra8
|
UTSW |
4 |
155,841,089 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6857:Mxra8
|
UTSW |
4 |
155,843,136 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7142:Mxra8
|
UTSW |
4 |
155,843,062 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7658:Mxra8
|
UTSW |
4 |
155,842,963 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7842:Mxra8
|
UTSW |
4 |
155,842,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8182:Mxra8
|
UTSW |
4 |
155,841,132 (GRCm38) |
nonsense |
probably null |
|
|
R8679:Mxra8
|
UTSW |
4 |
155,842,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9803:Mxra8
|
UTSW |
4 |
155,839,825 (GRCm38) |
start gained |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation