Incidental Mutation 'R4929:Mxra8'
ID |
381080 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mxra8
|
Ensembl Gene |
ENSMUSG00000029070 |
Gene Name |
matrix-remodelling associated 8 |
Synonyms |
1200013A08Rik, Asp3, limitrin, DICAM |
MMRRC Submission |
042530-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4929 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155924137-155928545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155927118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 351
(F351I)
|
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: F351I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030947 Gene: ENSMUSG00000029070 AA Change: F351I
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: ENSMUST00000143886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141766
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141539
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156997
|
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 |
0.2548 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
100% (66/66) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,273,467 (GRCm39) |
|
noncoding transcript |
Het |
Abcd3 |
A |
T |
3: 121,562,395 (GRCm39) |
|
probably null |
Het |
Adamts12 |
C |
T |
15: 11,259,108 (GRCm39) |
R551C |
probably damaging |
Het |
Adamtsl4 |
A |
G |
3: 95,585,315 (GRCm39) |
C818R |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,506,599 (GRCm39) |
Q842L |
probably benign |
Het |
Aurka |
A |
T |
2: 172,212,326 (GRCm39) |
V17E |
probably benign |
Het |
Cdh24 |
C |
T |
14: 54,870,973 (GRCm39) |
V132I |
probably benign |
Het |
Cep57l1 |
T |
C |
10: 41,621,910 (GRCm39) |
D2G |
possibly damaging |
Het |
Cntn5 |
T |
A |
9: 9,976,400 (GRCm39) |
|
probably null |
Het |
Col10a1 |
T |
C |
10: 34,271,120 (GRCm39) |
I364T |
probably benign |
Het |
Dpp6 |
G |
A |
5: 27,254,785 (GRCm39) |
A67T |
probably benign |
Het |
Dym |
T |
A |
18: 75,376,357 (GRCm39) |
V583E |
probably damaging |
Het |
Efcab5 |
T |
G |
11: 76,994,209 (GRCm39) |
K1259N |
probably benign |
Het |
Ehbp1 |
T |
G |
11: 22,189,169 (GRCm39) |
I78L |
possibly damaging |
Het |
Epha1 |
C |
A |
6: 42,341,533 (GRCm39) |
A469S |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,069,081 (GRCm39) |
D596G |
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,029 (GRCm39) |
N530S |
probably benign |
Het |
Gm57858 |
G |
A |
3: 36,089,487 (GRCm39) |
L146F |
probably damaging |
Het |
Grhl2 |
A |
G |
15: 37,361,046 (GRCm39) |
N610S |
probably benign |
Het |
Haus6 |
T |
C |
4: 86,513,670 (GRCm39) |
I331V |
probably benign |
Het |
Ints2 |
G |
T |
11: 86,103,479 (GRCm39) |
N1192K |
possibly damaging |
Het |
Itga5 |
A |
G |
15: 103,261,662 (GRCm39) |
V445A |
probably benign |
Het |
Itga9 |
C |
A |
9: 118,636,317 (GRCm39) |
D82E |
probably damaging |
Het |
Jam2 |
G |
A |
16: 84,619,750 (GRCm39) |
|
probably benign |
Het |
Klhl32 |
T |
A |
4: 24,709,030 (GRCm39) |
I112F |
probably damaging |
Het |
Lepr |
A |
G |
4: 101,672,314 (GRCm39) |
I1113V |
probably benign |
Het |
Lrrc3b |
C |
A |
14: 15,357,888 (GRCm38) |
L239F |
probably damaging |
Het |
Lzic |
T |
A |
4: 149,572,585 (GRCm39) |
|
probably null |
Het |
Naa40 |
A |
G |
19: 7,207,347 (GRCm39) |
F126L |
probably damaging |
Het |
Nbeal1 |
C |
T |
1: 60,277,813 (GRCm39) |
S733F |
probably damaging |
Het |
Olr1 |
T |
C |
6: 129,477,044 (GRCm39) |
T74A |
probably damaging |
Het |
Or52x1 |
A |
G |
7: 104,853,232 (GRCm39) |
I106T |
probably damaging |
Het |
Or5aq7 |
A |
G |
2: 86,938,527 (GRCm39) |
F68S |
possibly damaging |
Het |
Or5h17 |
A |
C |
16: 58,820,582 (GRCm39) |
Y178S |
probably damaging |
Het |
Pgam5 |
A |
T |
5: 110,413,691 (GRCm39) |
V130D |
probably damaging |
Het |
Pop4 |
A |
G |
7: 37,965,573 (GRCm39) |
C115R |
probably damaging |
Het |
Prpf18 |
A |
T |
2: 4,629,348 (GRCm39) |
|
probably null |
Het |
Psg16 |
G |
A |
7: 16,829,031 (GRCm39) |
R205H |
possibly damaging |
Het |
Ptgr1 |
C |
A |
4: 58,981,879 (GRCm39) |
A53S |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
Slfn10-ps |
A |
G |
11: 82,920,345 (GRCm39) |
|
noncoding transcript |
Het |
Sox8 |
G |
A |
17: 25,789,330 (GRCm39) |
A56V |
probably benign |
Het |
Ssr3 |
A |
G |
3: 65,295,175 (GRCm39) |
S113P |
probably damaging |
Het |
Stx16 |
T |
C |
2: 173,938,721 (GRCm39) |
Y296H |
possibly damaging |
Het |
Tfcp2 |
A |
T |
15: 100,426,370 (GRCm39) |
N60K |
probably benign |
Het |
Thada |
T |
C |
17: 84,751,654 (GRCm39) |
T441A |
probably benign |
Het |
Trf |
G |
T |
9: 103,105,074 (GRCm39) |
|
probably benign |
Het |
Vamp2 |
T |
A |
11: 68,979,488 (GRCm39) |
|
probably benign |
Het |
Vmn2r105 |
A |
T |
17: 20,448,280 (GRCm39) |
D181E |
probably benign |
Het |
Vmn2r12 |
A |
T |
5: 109,239,544 (GRCm39) |
Y340N |
probably damaging |
Het |
Wasf2 |
C |
A |
4: 132,923,170 (GRCm39) |
D493E |
unknown |
Het |
Wdfy4 |
T |
C |
14: 32,769,213 (GRCm39) |
D2084G |
possibly damaging |
Het |
Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
Zfp703 |
T |
A |
8: 27,468,879 (GRCm39) |
V181E |
possibly 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 |
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 |
|
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'- TTGCTAGAGGTATTGCCACGG -3'
(R):5'- AGGCAAACTCACCCCTTTG -3'
Sequencing Primer
(F):5'- CTGCCTCCTGAGTGATGAGATTAAAG -3'
(R):5'- GGCAAACTCACCCCTTTGACTTC -3'
|
Posted On |
2016-04-15 |