Incidental Mutation 'R2473:Mxra8'
ID |
253215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mxra8
|
Ensembl Gene |
ENSMUSG00000029070 |
Gene Name |
matrix-remodelling associated 8 |
Synonyms |
1200013A08Rik, Asp3, limitrin, DICAM |
MMRRC Submission |
040404-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2473 (G1)
|
Quality Score |
153 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155924137-155928545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155926500 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 286
(F286S)
|
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: F286S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030947 Gene: ENSMUSG00000029070 AA Change: F286S
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: F283S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114929 Gene: ENSMUSG00000029070 AA Change: F283S
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
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 |
Atp8b4 |
T |
G |
2: 126,200,814 (GRCm39) |
K785Q |
possibly damaging |
Het |
Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,392,404 (GRCm39) |
I184F |
possibly damaging |
Het |
Ephb4 |
T |
A |
5: 137,363,962 (GRCm39) |
D611E |
probably benign |
Het |
Habp2 |
G |
A |
19: 56,276,464 (GRCm39) |
V13M |
possibly damaging |
Het |
Mamdc4 |
C |
A |
2: 25,456,344 (GRCm39) |
G713V |
probably damaging |
Het |
Marveld2 |
C |
T |
13: 100,733,829 (GRCm39) |
V269M |
probably damaging |
Het |
Mbd5 |
T |
A |
2: 49,169,353 (GRCm39) |
M1508K |
probably benign |
Het |
Mgp |
T |
C |
6: 136,850,162 (GRCm39) |
|
probably null |
Het |
Mucl2 |
C |
G |
15: 103,927,628 (GRCm39) |
E110Q |
possibly damaging |
Het |
Or2t46 |
A |
G |
11: 58,472,401 (GRCm39) |
T244A |
probably damaging |
Het |
Or4g16 |
T |
C |
2: 111,137,236 (GRCm39) |
S229P |
probably damaging |
Het |
Or52h9 |
T |
C |
7: 104,202,146 (GRCm39) |
Y7H |
possibly damaging |
Het |
Or5p70 |
C |
T |
7: 107,994,711 (GRCm39) |
A128V |
probably damaging |
Het |
Pax3 |
C |
T |
1: 78,099,227 (GRCm39) |
|
probably null |
Het |
Polm |
T |
C |
11: 5,779,881 (GRCm39) |
E339G |
possibly damaging |
Het |
Sec14l4 |
T |
A |
11: 3,993,359 (GRCm39) |
V218E |
probably benign |
Het |
Sf3b1 |
C |
T |
1: 55,038,785 (GRCm39) |
|
probably null |
Het |
Six4 |
A |
G |
12: 73,150,949 (GRCm39) |
V532A |
probably benign |
Het |
Slc35c1 |
T |
A |
2: 92,285,098 (GRCm39) |
D172V |
probably benign |
Het |
Ttc39a |
A |
T |
4: 109,299,436 (GRCm39) |
I428F |
probably damaging |
Het |
Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (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 |
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 |
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'- TGACCGCCATTTAGAGGAGG -3'
(R):5'- AGCCGTGGCAATACCTCTAG -3'
Sequencing Primer
(F):5'- TCCATTGGGACCGACAGCTAC -3'
(R):5'- GTGGCAATACCTCTAGCAATTAGC -3'
|
Posted On |
2014-12-04 |