Incidental Mutation 'IGL00815:Txlnb'
ID14667
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: 0.056) question?
Stock #IGL00815
Quality Score
Status
Chromosome10
Chromosomal Location17796226-17845665 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 17842963 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 514 (H514L)
Ref Sequence ENSEMBL: ENSMUSP00000044936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037964]
Predicted Effect probably damaging
Transcript: ENSMUST00000037964
AA Change: H514L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: H514L

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal A G 2: 121,151,218 probably benign Het
Arhgap20 A G 9: 51,849,413 N819D probably benign Het
Cenpe A G 3: 135,259,351 I2061V probably benign Het
Chrna4 T C 2: 181,029,391 I191V probably benign Het
Crim1 A G 17: 78,370,091 E907G probably damaging Het
Cyp2d9 T A 15: 82,456,375 D175E possibly damaging Het
Eml4 A G 17: 83,450,790 probably benign Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fam3c A T 6: 22,318,948 D151E probably damaging Het
Far1 G A 7: 113,540,689 V115I probably benign Het
Gfap T C 11: 102,888,690 D427G possibly damaging Het
Hdac5 A G 11: 102,197,342 F934S probably damaging Het
Hyou1 A G 9: 44,385,146 E456G probably benign Het
Kl G A 5: 150,980,850 E356K possibly damaging Het
Morc1 T C 16: 48,460,692 I198T possibly damaging Het
Mroh9 C T 1: 163,039,131 V679M probably damaging Het
Pigr T A 1: 130,834,430 M1K probably null Het
Pkn3 C A 2: 30,081,200 P260T possibly damaging Het
Pld5 T G 1: 176,140,019 D28A probably damaging Het
Plekhg2 G A 7: 28,360,869 Q1012* probably null Het
Ppp1ca A G 19: 4,193,144 I104V probably benign Het
Rad21l A G 2: 151,667,989 V64A probably damaging Het
Rbm20 A G 19: 53,815,517 D427G probably damaging Het
Rev3l A G 10: 39,859,153 I2792V possibly damaging Het
Sec23a C T 12: 58,992,282 C248Y possibly damaging Het
Sf3b1 A T 1: 54,996,931 probably benign Het
Slc30a1 A G 1: 191,909,079 N279S probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Spic T C 10: 88,675,867 N176D probably damaging Het
Tlk2 C T 11: 105,246,795 Q184* probably null Het
Tpm4 T C 8: 72,143,503 I107T probably benign Het
Ttll11 A T 2: 35,902,720 C186* probably null Het
Zfpm2 T A 15: 41,099,491 M183K probably benign Het
Other mutations in Txlnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01820:Txlnb APN 10 17806858 critical splice donor site probably null
IGL02244:Txlnb APN 10 17843368 missense probably benign 0.00
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 On2012-12-06