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 |
1200013A08Rik, Asp3, limitrin, DICAM |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01871
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
155924137-155928545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155927258 bp (GRCm39)
|
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]
[ENSMUST00000168552]
[ENSMUST00000141883]
|
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: ENSMUST00000143457
|
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 |
|
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: 81,620,513 (GRCm39) |
|
probably null |
Het |
Aqp7 |
G |
A |
4: 41,045,321 (GRCm39) |
R20* |
probably null |
Het |
Asxl2 |
G |
T |
12: 3,552,112 (GRCm39) |
V1285L |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,202,561 (GRCm39) |
S688T |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,846,311 (GRCm39) |
I357F |
probably damaging |
Het |
Clasp1 |
A |
T |
1: 118,498,619 (GRCm39) |
I884F |
probably damaging |
Het |
Cpne4 |
T |
G |
9: 104,802,956 (GRCm39) |
M200R |
possibly damaging |
Het |
Cyp2d10 |
T |
A |
15: 82,288,086 (GRCm39) |
D180V |
probably damaging |
Het |
Dicer1 |
A |
T |
12: 104,670,439 (GRCm39) |
V1042D |
probably damaging |
Het |
Dlc1 |
G |
A |
8: 37,317,334 (GRCm39) |
T447I |
probably damaging |
Het |
Efl1 |
T |
C |
7: 82,412,527 (GRCm39) |
M972T |
possibly damaging |
Het |
Erbin |
A |
G |
13: 103,971,274 (GRCm39) |
S781P |
probably damaging |
Het |
Galnt4 |
G |
A |
10: 98,945,103 (GRCm39) |
G276D |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gmppa |
A |
G |
1: 75,413,661 (GRCm39) |
I41V |
probably damaging |
Het |
Golga1 |
C |
T |
2: 38,940,210 (GRCm39) |
|
probably benign |
Het |
H2-Ob |
G |
T |
17: 34,461,519 (GRCm39) |
W86L |
probably damaging |
Het |
Hnrnpr |
G |
A |
4: 136,066,885 (GRCm39) |
R482H |
unknown |
Het |
L2hgdh |
T |
C |
12: 69,768,869 (GRCm39) |
E81G |
probably damaging |
Het |
Mre11a |
T |
C |
9: 14,723,193 (GRCm39) |
V389A |
possibly damaging |
Het |
Ncapg |
T |
A |
5: 45,845,923 (GRCm39) |
S593R |
probably benign |
Het |
Ndufaf1 |
C |
T |
2: 119,488,768 (GRCm39) |
W250* |
probably null |
Het |
Neb |
T |
C |
2: 52,043,081 (GRCm39) |
E6783G |
probably damaging |
Het |
Nmt2 |
T |
C |
2: 3,313,711 (GRCm39) |
Y175H |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,489,924 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,946,964 (GRCm39) |
M812L |
probably damaging |
Het |
Pou2f3 |
A |
G |
9: 43,045,768 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,600,951 (GRCm39) |
T2871A |
probably benign |
Het |
Rapgef4 |
A |
G |
2: 72,028,704 (GRCm39) |
T392A |
possibly damaging |
Het |
Rhov |
G |
T |
2: 119,101,219 (GRCm39) |
Q71K |
probably benign |
Het |
Slc22a15 |
T |
C |
3: 101,768,110 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
T |
A |
4: 34,040,894 (GRCm39) |
N22Y |
probably damaging |
Het |
Stmnd1 |
A |
G |
13: 46,443,189 (GRCm39) |
E107G |
probably damaging |
Het |
Tent5b |
A |
G |
4: 133,213,620 (GRCm39) |
I164V |
possibly damaging |
Het |
Timm22 |
T |
C |
11: 76,298,263 (GRCm39) |
V78A |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,676,993 (GRCm39) |
|
probably benign |
Het |
Utp4 |
A |
C |
8: 107,638,949 (GRCm39) |
K419T |
probably benign |
Het |
Zfp410 |
T |
C |
12: 84,372,565 (GRCm39) |
|
probably null |
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 |
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 |
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 |
|
|
Posted On |
2014-05-07 |