Incidental Mutation 'IGL02244:Txlnb'
ID 286112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txlnb
Ensembl Gene ENSMUSG00000039891
Gene Name taxilin beta
Synonyms Mdp77, 2310001N14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL02244
Quality Score
Status
Chromosome 10
Chromosomal Location 17671974-17721413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17719116 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8VBT1
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: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Bpifb5 C T 2: 154,067,068 (GRCm39) T107I possibly damaging Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly damaging Het
Other mutations in Txlnb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Txlnb APN 10 17,718,711 (GRCm39) missense probably damaging 0.98
IGL01820:Txlnb APN 10 17,682,606 (GRCm39) critical splice donor site probably null
IGL02247:Txlnb APN 10 17,717,276 (GRCm39) splice site probably benign
IGL02247:Txlnb APN 10 17,706,090 (GRCm39) missense possibly damaging 0.55
IGL02931:Txlnb APN 10 17,703,730 (GRCm39) missense probably damaging 1.00
IGL03006:Txlnb APN 10 17,714,723 (GRCm39) missense probably damaging 0.96
IGL02991:Txlnb UTSW 10 17,717,201 (GRCm39) missense probably damaging 1.00
R0092:Txlnb UTSW 10 17,718,503 (GRCm39) missense possibly damaging 0.91
R0800:Txlnb UTSW 10 17,675,240 (GRCm39) missense possibly damaging 0.50
R0908:Txlnb UTSW 10 17,674,925 (GRCm39) missense probably damaging 1.00
R1172:Txlnb UTSW 10 17,718,504 (GRCm39) missense probably benign 0.23
R1174:Txlnb UTSW 10 17,718,504 (GRCm39) missense probably benign 0.23
R1340:Txlnb UTSW 10 17,718,488 (GRCm39) missense probably damaging 1.00
R1373:Txlnb UTSW 10 17,714,695 (GRCm39) missense probably damaging 1.00
R1641:Txlnb UTSW 10 17,682,521 (GRCm39) missense possibly damaging 0.55
R1680:Txlnb UTSW 10 17,718,981 (GRCm39) missense probably benign 0.01
R1710:Txlnb UTSW 10 17,719,203 (GRCm39) missense possibly damaging 0.90
R1741:Txlnb UTSW 10 17,714,695 (GRCm39) missense probably damaging 1.00
R1955:Txlnb UTSW 10 17,675,168 (GRCm39) missense probably damaging 0.98
R2031:Txlnb UTSW 10 17,706,062 (GRCm39) missense possibly damaging 0.85
R4300:Txlnb UTSW 10 17,703,673 (GRCm39) missense probably damaging 1.00
R4483:Txlnb UTSW 10 17,714,745 (GRCm39) nonsense probably null
R4484:Txlnb UTSW 10 17,714,745 (GRCm39) nonsense probably null
R4656:Txlnb UTSW 10 17,691,024 (GRCm39) missense probably damaging 1.00
R4664:Txlnb UTSW 10 17,718,942 (GRCm39) missense probably damaging 0.99
R4723:Txlnb UTSW 10 17,675,015 (GRCm39) missense probably benign 0.02
R4974:Txlnb UTSW 10 17,714,717 (GRCm39) missense probably damaging 1.00
R5291:Txlnb UTSW 10 17,675,144 (GRCm39) missense possibly damaging 0.92
R5538:Txlnb UTSW 10 17,714,657 (GRCm39) missense probably damaging 1.00
R5791:Txlnb UTSW 10 17,674,876 (GRCm39) missense probably benign 0.01
R5967:Txlnb UTSW 10 17,675,168 (GRCm39) missense probably damaging 0.98
R6144:Txlnb UTSW 10 17,718,914 (GRCm39) missense probably benign 0.17
R6212:Txlnb UTSW 10 17,675,057 (GRCm39) missense probably damaging 1.00
R7146:Txlnb UTSW 10 17,703,546 (GRCm39) missense possibly damaging 0.81
R7171:Txlnb UTSW 10 17,718,732 (GRCm39) missense probably benign 0.22
R7253:Txlnb UTSW 10 17,703,633 (GRCm39) missense probably damaging 1.00
R7468:Txlnb UTSW 10 17,675,082 (GRCm39) missense probably damaging 0.96
R7608:Txlnb UTSW 10 17,691,146 (GRCm39) missense probably damaging 0.98
R7936:Txlnb UTSW 10 17,703,712 (GRCm39) missense probably benign 0.26
R8245:Txlnb UTSW 10 17,717,205 (GRCm39) missense probably damaging 1.00
R8262:Txlnb UTSW 10 17,718,752 (GRCm39) missense possibly damaging 0.90
R8435:Txlnb UTSW 10 17,703,544 (GRCm39) missense probably damaging 1.00
R8933:Txlnb UTSW 10 17,682,546 (GRCm39) missense probably damaging 0.97
R9218:Txlnb UTSW 10 17,718,570 (GRCm39) missense probably damaging 0.99
R9329:Txlnb UTSW 10 17,682,594 (GRCm39) missense probably damaging 1.00
X0025:Txlnb UTSW 10 17,675,170 (GRCm39) missense probably benign 0.39
Z1177:Txlnb UTSW 10 17,709,056 (GRCm39) missense possibly damaging 0.80
Z1177:Txlnb UTSW 10 17,703,552 (GRCm39) missense probably damaging 1.00
Z1177:Txlnb UTSW 10 17,682,554 (GRCm39) missense probably benign 0.33
Posted On 2015-04-16