Incidental Mutation 'IGL02244:Txlnb'
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ID286112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txlnb
Ensembl Gene ENSMUSG00000039891
Gene Nametaxilin beta
Synonyms2310001N14Rik, Mdp77
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL02244
Quality Score
Status
Chromosome10
Chromosomal Location17796226-17845665 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 17843368 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 649 (V649E)
Ref Sequence ENSEMBL: ENSMUSP00000044936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037964]
Predicted Effect probably benign
Transcript: ENSMUST00000037964
AA Change: V649E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: V649E

DomainStartEndE-ValueType
internal_repeat_2 5 22 2.13e-6 PROSPERO
internal_repeat_1 25 93 4.27e-8 PROSPERO
low complexity region 115 128 N/A INTRINSIC
Pfam:Taxilin 145 454 3.1e-122 PFAM
low complexity region 477 491 N/A INTRINSIC
internal_repeat_2 543 560 2.13e-6 PROSPERO
low complexity region 575 591 N/A INTRINSIC
internal_repeat_1 600 659 4.27e-8 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 91,056,197 T17K probably benign Het
Agbl1 T C 7: 76,766,372 S714P probably damaging Het
Araf A G X: 20,853,596 probably benign Het
Armc3 G A 2: 19,286,137 probably null Het
Armc8 A T 9: 99,483,174 D638E probably benign Het
Bpifb5 C T 2: 154,225,148 T107I possibly damaging Het
Ces1e A C 8: 93,212,349 probably null Het
Col4a3 C A 1: 82,669,771 probably benign Het
Col4a5 A G X: 141,599,673 probably benign Het
Crocc T C 4: 141,037,920 H477R probably benign Het
Dgkd C A 1: 87,915,141 N130K probably benign Het
Dock1 C T 7: 134,777,445 Q634* probably null Het
Dzip3 C T 16: 48,980,988 V58I probably benign Het
Fndc3a A G 14: 72,556,367 probably benign Het
Glp2r C T 11: 67,721,991 R379H probably damaging Het
Kctd12b T A X: 153,689,334 M120L probably benign Het
Krt33b A G 11: 100,025,363 V258A probably benign Het
Lpin1 T A 12: 16,541,769 N819I probably damaging Het
Lurap1l T C 4: 80,953,629 S120P probably damaging Het
Lysmd4 T C 7: 67,225,924 S112P probably damaging Het
Myo1e A G 9: 70,367,689 K708R probably benign Het
Nr3c1 T A 18: 39,421,557 probably benign Het
Nup62cl G T X: 140,022,031 N239K probably benign Het
Nwd1 A T 8: 72,707,582 E1269V probably damaging Het
Olfr676 C T 7: 105,035,945 T249M probably damaging Het
Pcdh9 A C 14: 93,326,768 L1084R probably damaging Het
Plxnd1 A G 6: 115,978,257 M543T probably benign Het
Prss53 T A 7: 127,888,792 T173S possibly damaging Het
Reep2 C A 18: 34,840,754 probably benign Het
Rp1 T C 1: 4,348,780 D703G probably benign Het
Sbf2 T G 7: 110,560,295 D36A probably damaging Het
Sh3kbp1 C T X: 159,803,728 R99W probably damaging Het
Sis T A 3: 72,956,190 R238S probably benign Het
Slc35e2 T A 4: 155,618,562 V344D probably damaging Het
Specc1 G A 11: 62,128,368 V678I probably benign Het
Supt6 T C 11: 78,232,797 D49G possibly damaging Het
Tecpr1 G A 5: 144,210,003 A515V probably benign Het
Tlr4 G A 4: 66,834,061 probably null Het
Tmco5b A G 2: 113,288,274 E114G probably damaging Het
Tspear A T 10: 77,852,856 probably benign Het
Utp20 A G 10: 88,815,956 probably benign Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Vmn2r70 T A 7: 85,565,003 T314S probably benign Het
Zfp938 G T 10: 82,226,072 T238K possibly damaging Het
Other mutations in Txlnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Txlnb APN 10 17842963 missense probably damaging 0.98
IGL01820:Txlnb APN 10 17806858 critical splice donor site probably null
IGL02247:Txlnb APN 10 17830342 missense possibly damaging 0.55
IGL02247:Txlnb APN 10 17841528 splice site probably benign
IGL02931:Txlnb APN 10 17827982 missense probably damaging 1.00
IGL03006:Txlnb APN 10 17838975 missense probably damaging 0.96
IGL02991:Txlnb UTSW 10 17841453 missense probably damaging 1.00
R0092:Txlnb UTSW 10 17842755 missense possibly damaging 0.91
R0800:Txlnb UTSW 10 17799492 missense possibly damaging 0.50
R0908:Txlnb UTSW 10 17799177 missense probably damaging 1.00
R1172:Txlnb UTSW 10 17842756 missense probably benign 0.23
R1174:Txlnb UTSW 10 17842756 missense probably benign 0.23
R1340:Txlnb UTSW 10 17842740 missense probably damaging 1.00
R1373:Txlnb UTSW 10 17838947 missense probably damaging 1.00
R1641:Txlnb UTSW 10 17806773 missense possibly damaging 0.55
R1680:Txlnb UTSW 10 17843233 missense probably benign 0.01
R1710:Txlnb UTSW 10 17843455 missense possibly damaging 0.90
R1741:Txlnb UTSW 10 17838947 missense probably damaging 1.00
R1955:Txlnb UTSW 10 17799420 missense probably damaging 0.98
R2031:Txlnb UTSW 10 17830314 missense possibly damaging 0.85
R4300:Txlnb UTSW 10 17827925 missense probably damaging 1.00
R4483:Txlnb UTSW 10 17838997 nonsense probably null
R4484:Txlnb UTSW 10 17838997 nonsense probably null
R4656:Txlnb UTSW 10 17815276 missense probably damaging 1.00
R4664:Txlnb UTSW 10 17843194 missense probably damaging 0.99
R4723:Txlnb UTSW 10 17799267 missense probably benign 0.02
R4974:Txlnb UTSW 10 17838969 missense probably damaging 1.00
R5291:Txlnb UTSW 10 17799396 missense possibly damaging 0.92
R5538:Txlnb UTSW 10 17838909 missense probably damaging 1.00
R5791:Txlnb UTSW 10 17799128 missense probably benign 0.01
R5967:Txlnb UTSW 10 17799420 missense probably damaging 0.98
R6144:Txlnb UTSW 10 17843166 missense probably benign 0.17
R6212:Txlnb UTSW 10 17799309 missense probably damaging 1.00
R7146:Txlnb UTSW 10 17827798 missense possibly damaging 0.81
R7171:Txlnb UTSW 10 17842984 missense probably benign 0.22
R7253:Txlnb UTSW 10 17827885 missense probably damaging 1.00
R7468:Txlnb UTSW 10 17799334 missense probably damaging 0.96
R7608:Txlnb UTSW 10 17815398 missense probably damaging 0.98
R7936:Txlnb UTSW 10 17827964 missense probably benign 0.26
R8245:Txlnb UTSW 10 17841457 missense probably damaging 1.00
R8262:Txlnb UTSW 10 17843004 missense possibly damaging 0.90
R8435:Txlnb UTSW 10 17827796 missense probably damaging 1.00
X0025:Txlnb UTSW 10 17799422 missense probably benign 0.39
Z1177:Txlnb UTSW 10 17806806 missense probably benign 0.33
Z1177:Txlnb UTSW 10 17827804 missense probably damaging 1.00
Z1177:Txlnb UTSW 10 17833308 missense possibly damaging 0.80
Posted On2015-04-16