Incidental Mutation 'R4519:Mxra8'
ID |
334108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mxra8
|
Ensembl Gene |
ENSMUSG00000029070 |
Gene Name |
matrix-remodelling associated 8 |
Synonyms |
1200013A08Rik, Asp3, limitrin, DICAM |
MMRRC Submission |
041590-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4519 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155924137-155928545 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 155927440 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030947
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030947]
[ENSMUST00000030947]
[ENSMUST00000030948]
[ENSMUST00000168552]
[ENSMUST00000141883]
|
AlphaFold |
Q9DBV4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030947
|
SMART Domains |
Protein: ENSMUSP00000030947 Gene: ENSMUSG00000029070
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 null
Transcript: ENSMUST00000030947
|
SMART Domains |
Protein: ENSMUSP00000030947 Gene: ENSMUSG00000029070
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: ENSMUST00000141766
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141539
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143457
|
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921528I07Rik |
A |
G |
9: 114,129,092 (GRCm39) |
|
noncoding transcript |
Het |
Acadsb |
A |
T |
7: 131,031,733 (GRCm39) |
T190S |
probably damaging |
Het |
Adamts17 |
G |
T |
7: 66,490,314 (GRCm39) |
G132V |
probably damaging |
Het |
Atosa |
A |
G |
9: 74,930,929 (GRCm39) |
I957M |
probably damaging |
Het |
Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
Atp8b4 |
A |
T |
2: 126,256,379 (GRCm39) |
|
probably null |
Het |
Btbd18 |
T |
C |
2: 84,497,924 (GRCm39) |
Y521H |
probably damaging |
Het |
Casd1 |
A |
G |
6: 4,621,102 (GRCm39) |
N220S |
probably benign |
Het |
Ccdc112 |
T |
G |
18: 46,420,613 (GRCm39) |
E379A |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
Cntrl |
A |
T |
2: 35,063,123 (GRCm39) |
K1573M |
probably damaging |
Het |
Col14a1 |
A |
T |
15: 55,251,975 (GRCm39) |
I544F |
unknown |
Het |
Cyp20a1 |
A |
T |
1: 60,426,306 (GRCm39) |
Y416F |
probably damaging |
Het |
Dagla |
T |
C |
19: 10,247,096 (GRCm39) |
K132E |
probably damaging |
Het |
Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
Ddx41 |
A |
T |
13: 55,680,957 (GRCm39) |
V329E |
probably damaging |
Het |
Dhx32 |
A |
T |
7: 133,335,838 (GRCm39) |
Y272N |
probably damaging |
Het |
Fam114a1 |
C |
A |
5: 65,163,225 (GRCm39) |
P174Q |
probably benign |
Het |
Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
Ghr |
T |
A |
15: 3,362,970 (GRCm39) |
L167F |
probably damaging |
Het |
Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
Gm9767 |
T |
C |
10: 25,954,756 (GRCm39) |
|
probably benign |
Het |
Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
Gsdme |
A |
T |
6: 50,206,333 (GRCm39) |
I170N |
probably damaging |
Het |
H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
Kmt2c |
T |
A |
5: 25,568,475 (GRCm39) |
K867M |
probably damaging |
Het |
Krt35 |
A |
G |
11: 99,985,453 (GRCm39) |
V196A |
possibly damaging |
Het |
Ltbp1 |
A |
T |
17: 75,671,492 (GRCm39) |
M1558L |
probably benign |
Het |
Mcam |
T |
G |
9: 44,052,640 (GRCm39) |
M623R |
possibly damaging |
Het |
Mrps26 |
A |
T |
2: 130,406,269 (GRCm39) |
Q134L |
probably benign |
Het |
Or13a21 |
A |
G |
7: 139,999,123 (GRCm39) |
S188P |
probably damaging |
Het |
Or52n20 |
G |
A |
7: 104,320,046 (GRCm39) |
G46R |
probably damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Parg |
C |
A |
14: 31,931,592 (GRCm39) |
T404K |
probably damaging |
Het |
Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
Piezo2 |
T |
C |
18: 63,205,951 (GRCm39) |
E1486G |
probably damaging |
Het |
Pign |
A |
T |
1: 105,525,391 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
A |
G |
9: 105,549,924 (GRCm39) |
H1005R |
probably damaging |
Het |
Ppp6r1 |
A |
C |
7: 4,644,045 (GRCm39) |
|
probably null |
Het |
Ptdss2 |
A |
G |
7: 140,734,491 (GRCm39) |
T309A |
probably benign |
Het |
Ptprt |
T |
C |
2: 161,406,609 (GRCm39) |
M987V |
probably damaging |
Het |
Rgs17 |
C |
A |
10: 5,868,192 (GRCm39) |
L9F |
probably benign |
Het |
Rock2 |
A |
G |
12: 17,027,738 (GRCm39) |
R168G |
probably damaging |
Het |
Rsph4a |
T |
A |
10: 33,787,623 (GRCm39) |
L593* |
probably null |
Het |
Scaf11 |
C |
A |
15: 96,322,719 (GRCm39) |
K108N |
probably damaging |
Het |
Sec23b |
T |
A |
2: 144,423,935 (GRCm39) |
M528K |
possibly damaging |
Het |
Shank2 |
G |
A |
7: 143,963,942 (GRCm39) |
D727N |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,218,965 (GRCm39) |
D124G |
probably benign |
Het |
Spatc1 |
A |
T |
15: 76,176,685 (GRCm39) |
I479F |
probably damaging |
Het |
Tmem126b |
A |
G |
7: 90,118,316 (GRCm39) |
L188P |
probably damaging |
Het |
Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
Vmn2r62 |
A |
G |
7: 42,413,957 (GRCm39) |
F829L |
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 |
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 |
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'- TCACAGGATGCAAGACGTCG -3'
(R):5'- CCTGGAATGGGTAGAGTCTCATATG -3'
Sequencing Primer
(F):5'- ACTGCTATCTCCCTTTAGG -3'
(R):5'- AATGGGTAGAGTCTCATATGGGATG -3'
|
Posted On |
2015-08-18 |