Incidental Mutation 'R1172:Txlnb'
ID 99579
Institutional Source Beutler Lab
Gene Symbol Txlnb
Ensembl Gene ENSMUSG00000039891
Gene Name taxilin beta
Synonyms Mdp77, 2310001N14Rik
MMRRC Submission 039245-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R1172 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 17671974-17721413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17718504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 445 (N445S)
Ref Sequence ENSEMBL: ENSMUSP00000044936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037964]
AlphaFold Q8VBT1
Predicted Effect probably benign
Transcript: ENSMUST00000037964
AA Change: N445S

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044936
Gene: ENSMUSG00000039891
AA Change: N445S

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
Meta Mutation Damage Score 0.1015 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,696,589 (GRCm39) probably benign Het
Adam7 T G 14: 68,752,370 (GRCm39) K371N probably damaging Het
Adgrv1 A T 13: 81,705,182 (GRCm39) S1543T probably damaging Het
Agbl4 A T 4: 111,513,515 (GRCm39) probably benign Het
Arid1b T A 17: 5,389,575 (GRCm39) I1707N probably damaging Het
Atp10a T C 7: 58,453,514 (GRCm39) V864A probably benign Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Bst1 A G 5: 43,982,750 (GRCm39) probably null Het
C9orf72 C A 4: 35,218,630 (GRCm39) E76D probably damaging Het
Cblb T C 16: 52,006,603 (GRCm39) probably benign Het
Ccdc28b T C 4: 129,514,682 (GRCm39) probably benign Het
Cmas G T 6: 142,702,604 (GRCm39) G36C probably benign Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Epc1 A C 18: 6,490,525 (GRCm39) Y31D probably damaging Het
Fbn1 A T 2: 125,236,607 (GRCm39) C358S probably benign Het
Fbxl13 A T 5: 21,825,602 (GRCm39) probably benign Het
Fermt2 T C 14: 45,697,425 (GRCm39) D642G possibly damaging Het
Fmnl2 A T 2: 52,962,286 (GRCm39) N257I probably damaging Het
Fry G A 5: 150,404,959 (GRCm39) W793* probably null Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm10801 C T 2: 98,494,252 (GRCm39) probably benign Het
Gm21718 T C 14: 51,553,348 (GRCm39) noncoding transcript Het
Gpld1 A G 13: 25,141,549 (GRCm39) probably null Het
Gtf3c2 A T 5: 31,325,419 (GRCm39) Y500N probably damaging Het
Hbs1l A G 10: 21,180,537 (GRCm39) D73G probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Kank4 T C 4: 98,653,806 (GRCm39) Y874C probably damaging Het
Lamc2 A T 1: 153,042,033 (GRCm39) S34T probably damaging Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lrrc19 A T 4: 94,526,626 (GRCm39) Y310* probably null Het
Map3k5 G A 10: 19,932,394 (GRCm39) probably benign Het
Map7 G A 10: 20,121,045 (GRCm39) E92K probably damaging Het
Mettl24 G A 10: 40,613,704 (GRCm39) A148T probably benign Het
Mosmo A G 7: 120,329,745 (GRCm39) Y122C probably benign Het
Ncr1 T A 7: 4,341,120 (GRCm39) I37N probably benign Het
Nkx3-1 T C 14: 69,429,434 (GRCm39) S151P probably damaging Het
Npm2 T A 14: 70,889,661 (GRCm39) K54* probably null Het
Npr1 T A 3: 90,368,689 (GRCm39) D457V probably benign Het
Nudt21 T C 8: 94,757,757 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Rftn2 A G 1: 55,250,376 (GRCm39) V123A probably damaging Het
Rpa1 A T 11: 75,203,219 (GRCm39) V392D probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Slc45a4 C T 15: 73,477,278 (GRCm39) probably benign Het
Syndig1l T A 12: 84,725,942 (GRCm39) probably null Het
Tctn1 G A 5: 122,389,752 (GRCm39) R257* probably null Het
Tenm4 A T 7: 96,497,251 (GRCm39) E1179V probably damaging Het
Tyrp1 C T 4: 80,763,105 (GRCm39) Q331* probably null Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vdr A T 15: 97,767,214 (GRCm39) Y185N probably benign Het
Vmn2r66 G T 7: 84,654,799 (GRCm39) D503E probably benign Het
Vmn2r72 T A 7: 85,401,152 (GRCm39) E89V probably damaging Het
Vmn2r87 T C 10: 130,313,453 (GRCm39) T438A probably benign Het
Xrcc6 A G 15: 81,915,364 (GRCm39) D94G probably damaging Het
Ywhaq T C 12: 21,445,024 (GRCm39) N207S probably benign Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Zfp981 G A 4: 146,622,221 (GRCm39) S382N probably benign 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
IGL02244:Txlnb APN 10 17,719,116 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers
Posted On 2014-01-15