Incidental Mutation 'IGL01871:Mxra8'
ID178706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mxra8
Ensembl Gene ENSMUSG00000029070
Gene Namematrix-remodelling associated 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01871
Quality Score
Status
Chromosome4
Chromosomal Location155839680-155844088 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155842801 bp
ZygosityHeterozygous
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] [ENSMUST00000141883] [ENSMUST00000168552]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000141539
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141766
Predicted Effect probably benign
Transcript: ENSMUST00000141883
SMART Domains Protein: ENSMUSP00000114929
Gene: ENSMUSG00000029070

DomainStartEndE-ValueType
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: ENSMUST00000143457
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156997
Predicted Effect probably benign
Transcript: ENSMUST00000168552
SMART Domains Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071

DomainStartEndE-ValueType
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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,472,394 probably null Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Asxl2 G T 12: 3,502,112 V1285L probably benign Het
Bdp1 A T 13: 100,066,053 S688T probably benign Het
Cc2d2a A T 5: 43,688,969 I357F probably damaging Het
Clasp1 A T 1: 118,570,889 I884F probably damaging Het
Cpne4 T G 9: 104,925,757 M200R possibly damaging Het
Cyp2d10 T A 15: 82,403,885 D180V probably damaging Het
Dicer1 A T 12: 104,704,180 V1042D probably damaging Het
Dlc1 G A 8: 36,850,180 T447I probably damaging Het
Efl1 T C 7: 82,763,319 M972T possibly damaging Het
Erbin A G 13: 103,834,766 S781P probably damaging Het
Fam46b A G 4: 133,486,309 I164V possibly damaging Het
Galnt4 G A 10: 99,109,241 G276D probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gmppa A G 1: 75,437,017 I41V probably damaging Het
Golga1 C T 2: 39,050,198 probably benign Het
H2-Ob G T 17: 34,242,545 W86L probably damaging Het
Hnrnpr G A 4: 136,339,574 R482H unknown Het
L2hgdh T C 12: 69,722,095 E81G probably damaging Het
Mre11a T C 9: 14,811,897 V389A possibly damaging Het
Ncapg T A 5: 45,688,581 S593R probably benign Het
Ndufaf1 C T 2: 119,658,287 W250* probably null Het
Neb T C 2: 52,153,069 E6783G probably damaging Het
Nmt2 T C 2: 3,312,674 Y175H probably damaging Het
Olfml2b T C 1: 170,662,355 probably benign Het
Pitpnm3 T A 11: 72,056,138 M812L probably damaging Het
Pou2f3 A G 9: 43,134,473 probably benign Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Rapgef4 A G 2: 72,198,360 T392A possibly damaging Het
Rhov G T 2: 119,270,738 Q71K probably benign Het
Slc22a15 T C 3: 101,860,794 probably benign Het
Spaca1 T A 4: 34,040,894 N22Y probably damaging Het
Stmnd1 A G 13: 46,289,713 E107G probably damaging Het
Timm22 T C 11: 76,407,437 V78A probably damaging Het
Usp47 T C 7: 112,077,786 probably benign Het
Utp4 A C 8: 106,912,317 K419T probably benign Het
Zfp410 T C 12: 84,325,791 probably null Het
Other mutations in Mxra8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Mxra8 APN 4 155842563 missense probably benign 0.06
IGL02900:Mxra8 APN 4 155841119 missense possibly damaging 0.52
IGL02900:Mxra8 APN 4 155841211 splice site probably null
R0206:Mxra8 UTSW 4 155842596 missense probably damaging 0.97
R0206:Mxra8 UTSW 4 155842596 missense probably damaging 0.97
R0513:Mxra8 UTSW 4 155841733 missense probably benign 0.00
R1318:Mxra8 UTSW 4 155841499 missense probably damaging 1.00
R1414:Mxra8 UTSW 4 155841007 missense probably damaging 0.99
R1775:Mxra8 UTSW 4 155843074 missense probably damaging 1.00
R2473:Mxra8 UTSW 4 155842043 missense probably damaging 0.99
R4270:Mxra8 UTSW 4 155841137 missense probably damaging 0.96
R4519:Mxra8 UTSW 4 155842983 critical splice donor site probably null
R4844:Mxra8 UTSW 4 155842694 missense probably benign 0.19
R4849:Mxra8 UTSW 4 155840874 intron probably benign
R4912:Mxra8 UTSW 4 155840904 splice site probably null
R4929:Mxra8 UTSW 4 155842661 missense probably damaging 1.00
R5567:Mxra8 UTSW 4 155841008 missense probably damaging 1.00
R5665:Mxra8 UTSW 4 155842921 missense probably benign 0.01
R5913:Mxra8 UTSW 4 155843303 critical splice acceptor site probably null
R6250:Mxra8 UTSW 4 155841089 missense possibly damaging 0.95
R6857:Mxra8 UTSW 4 155843136 missense possibly damaging 0.89
R7142:Mxra8 UTSW 4 155843062 missense probably benign 0.23
Posted On2014-05-07