Incidental Mutation 'R1174:Txlnb'
ID 99825
Institutional Source Beutler Lab
Gene Symbol Txlnb
Ensembl Gene ENSMUSG00000039891
Gene Name taxilin beta
Synonyms Mdp77, 2310001N14Rik
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R1174 (G1)
Quality Score 225
Status Not 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: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Mrm3 T C 11: 76,140,850 (GRCm39) V286A probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (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
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D 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
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
R1172: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