Incidental Mutation 'R4844:Mxra8'
ID |
372041 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mxra8
|
Ensembl Gene |
ENSMUSG00000029070 |
Gene Name |
matrix-remodelling associated 8 |
Synonyms |
1200013A08Rik, Asp3, limitrin, DICAM |
MMRRC Submission |
042457-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4844 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155924137-155928545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155927151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 362
(T362A)
|
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: T362A
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000030947 Gene: ENSMUSG00000029070 AA Change: T362A
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: ENSMUST00000156997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143457
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141539
|
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
97% (68/70) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,634,824 (GRCm39) |
T147A |
probably benign |
Het |
Acvrl1 |
T |
C |
15: 101,033,409 (GRCm39) |
S99P |
probably damaging |
Het |
Adamts3 |
T |
A |
5: 89,825,675 (GRCm39) |
S1055C |
probably damaging |
Het |
Aftph |
T |
C |
11: 20,658,667 (GRCm39) |
|
probably benign |
Het |
Aldh1a1 |
A |
G |
19: 20,611,764 (GRCm39) |
K363E |
probably benign |
Het |
Astn2 |
A |
G |
4: 65,562,967 (GRCm39) |
V886A |
possibly damaging |
Het |
Atad5 |
G |
A |
11: 80,005,137 (GRCm39) |
|
probably null |
Het |
C9orf72 |
A |
G |
4: 35,213,565 (GRCm39) |
V31A |
possibly damaging |
Het |
Ccnf |
G |
T |
17: 24,449,331 (GRCm39) |
Y482* |
probably null |
Het |
Cfap97 |
A |
G |
8: 46,622,712 (GRCm39) |
D34G |
possibly damaging |
Het |
Chst11 |
G |
T |
10: 83,026,923 (GRCm39) |
E117* |
probably null |
Het |
Cobl |
A |
T |
11: 12,204,740 (GRCm39) |
L572Q |
probably benign |
Het |
Coch |
G |
A |
12: 51,649,477 (GRCm39) |
G263S |
probably damaging |
Het |
Coq4 |
T |
C |
2: 29,686,026 (GRCm39) |
I205T |
possibly damaging |
Het |
Cyp3a13 |
A |
T |
5: 137,915,813 (GRCm39) |
I62K |
probably benign |
Het |
Cyp7a1 |
A |
G |
4: 6,273,655 (GRCm39) |
S84P |
probably damaging |
Het |
Dennd10 |
GTCT |
GT |
19: 60,823,435 (GRCm39) |
|
probably null |
Het |
G6pc3 |
G |
A |
11: 102,084,057 (GRCm39) |
|
probably null |
Het |
Gm10576 |
T |
C |
4: 100,911,707 (GRCm39) |
|
noncoding transcript |
Het |
Gm17511 |
G |
A |
7: 126,885,454 (GRCm39) |
|
noncoding transcript |
Het |
Gnat2 |
T |
C |
3: 108,002,831 (GRCm39) |
S80P |
probably damaging |
Het |
Gpaa1 |
C |
T |
15: 76,216,508 (GRCm39) |
|
probably benign |
Het |
Gpr107 |
T |
A |
2: 31,078,686 (GRCm39) |
|
probably null |
Het |
Hormad1 |
T |
C |
3: 95,478,242 (GRCm39) |
Y103H |
probably damaging |
Het |
Ighv14-1 |
T |
G |
12: 113,895,622 (GRCm39) |
Q101P |
probably damaging |
Het |
Igsf9 |
A |
G |
1: 172,324,737 (GRCm39) |
D885G |
probably benign |
Het |
Il15ra |
G |
A |
2: 11,723,082 (GRCm39) |
|
probably benign |
Het |
Islr2 |
C |
T |
9: 58,115,517 (GRCm39) |
|
probably benign |
Het |
Jak3 |
A |
T |
8: 72,134,299 (GRCm39) |
N467I |
possibly damaging |
Het |
Jarid2 |
T |
C |
13: 45,067,248 (GRCm39) |
V1023A |
probably damaging |
Het |
Kcnn2 |
A |
T |
18: 45,816,187 (GRCm39) |
T333S |
possibly damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,520,111 (GRCm39) |
T2000A |
probably benign |
Het |
Lpxn |
A |
G |
19: 12,810,536 (GRCm39) |
T327A |
probably damaging |
Het |
Myh6 |
A |
G |
14: 55,184,651 (GRCm39) |
I1560T |
possibly damaging |
Het |
Ndufv1 |
A |
G |
19: 4,062,574 (GRCm39) |
S17P |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,393,742 (GRCm39) |
H335L |
probably damaging |
Het |
Or1a1 |
A |
G |
11: 74,086,902 (GRCm39) |
D191G |
probably damaging |
Het |
Or2f1b |
T |
A |
6: 42,739,394 (GRCm39) |
M136K |
probably damaging |
Het |
Otop2 |
G |
A |
11: 115,214,201 (GRCm39) |
|
probably null |
Het |
Pwwp2b |
C |
A |
7: 138,835,502 (GRCm39) |
S314R |
probably benign |
Het |
Rfx7 |
C |
T |
9: 72,500,524 (GRCm39) |
Q95* |
probably null |
Het |
Serpine2 |
A |
T |
1: 79,777,241 (GRCm39) |
L192* |
probably null |
Het |
Smpdl3b |
T |
C |
4: 132,465,369 (GRCm39) |
I322M |
probably damaging |
Het |
Spata31d1b |
C |
T |
13: 59,866,169 (GRCm39) |
R1106C |
possibly damaging |
Het |
Sprr2k |
T |
G |
3: 92,336,732 (GRCm39) |
|
probably null |
Het |
St8sia1 |
T |
A |
6: 142,774,996 (GRCm39) |
R194S |
possibly damaging |
Het |
Sv2a |
T |
A |
3: 96,095,695 (GRCm39) |
V337D |
probably damaging |
Het |
Tars1 |
G |
A |
15: 11,385,281 (GRCm39) |
R637W |
possibly damaging |
Het |
Tcp11l2 |
G |
T |
10: 84,449,555 (GRCm39) |
V507L |
probably benign |
Het |
Tpr |
T |
C |
1: 150,321,630 (GRCm39) |
Y2262H |
possibly damaging |
Het |
Vars1 |
A |
G |
17: 35,230,588 (GRCm39) |
E529G |
probably damaging |
Het |
Vash2 |
C |
T |
1: 190,710,691 (GRCm39) |
|
probably benign |
Het |
Vmn1r194 |
T |
C |
13: 22,429,223 (GRCm39) |
V280A |
probably benign |
Het |
Vti1a |
A |
G |
19: 55,380,297 (GRCm39) |
T142A |
probably damaging |
Het |
Zfp111 |
C |
T |
7: 23,898,801 (GRCm39) |
C270Y |
probably damaging |
Het |
Zfp518a |
T |
A |
19: 40,903,340 (GRCm39) |
Y1090N |
probably damaging |
Het |
Zfp616 |
A |
T |
11: 73,975,225 (GRCm39) |
Y498F |
probably benign |
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 |
|
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'- ATTGCTAGAGGTATTGCCACGG -3'
(R):5'- TAGCAGTTTAGGAGGCCAGG -3'
Sequencing Primer
(F):5'- CTGCCTCCTGAGTGATGAGATTAAAG -3'
(R):5'- CAGGGCAGGACAGGTCTG -3'
|
Posted On |
2016-03-01 |