Incidental Mutation 'R0010:Txlna'
ID8158
Institutional Source Beutler Lab
Gene Symbol Txlna
Ensembl Gene ENSMUSG00000053841
Gene Nametaxilin alpha
Synonyms2600010N21Rik, Txln, IL14
MMRRC Submission 038305-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #R0010 (G1)
Quality Score
Status Validated
Chromosome4
Chromosomal Location129626078-129641065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 129629086 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 487 (D487A)
Ref Sequence ENSEMBL: ENSMUSP00000081285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046425] [ENSMUST00000084264] [ENSMUST00000133803]
Predicted Effect probably benign
Transcript: ENSMUST00000046425
AA Change: D487A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042153
Gene: ENSMUSG00000053841
AA Change: D487A

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:Taxilin 169 478 9.1e-120 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084264
AA Change: D487A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000081285
Gene: ENSMUSG00000053841
AA Change: D487A

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:Taxilin 166 478 3.9e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133803
SMART Domains Protein: ENSMUSP00000117368
Gene: ENSMUSG00000053841

DomainStartEndE-ValueType
low complexity region 91 107 N/A INTRINSIC
Pfam:Taxilin 166 296 2.6e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142577
Meta Mutation Damage Score 0.0689 question?
Coding Region Coverage
  • 1x: 79.6%
  • 3x: 70.9%
  • 10x: 47.0%
  • 20x: 26.4%
Validation Efficiency 91% (78/86)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 C T 5: 81,792,403 A1320V possibly damaging Het
Ahrr G A 13: 74,283,024 probably benign Het
BC037034 T C 5: 138,260,293 probably null Het
Cd74 A T 18: 60,809,071 H124L probably benign Het
Cdk5rap2 T C 4: 70,243,459 E270G probably benign Het
Cldnd1 T A 16: 58,731,259 probably benign Het
Dennd4a T C 9: 64,896,715 L1112P probably benign Het
Evc2 T A 5: 37,417,449 L1016Q probably damaging Het
Fam135b T C 15: 71,622,032 K16R probably damaging Het
Frem1 T C 4: 83,000,098 I536V probably benign Het
Ginm1 T C 10: 7,775,374 probably benign Het
Glrb A T 3: 80,860,315 probably benign Het
Glt6d1 C A 2: 25,794,727 probably null Het
Gm10320 T C 13: 98,489,546 Y110C probably damaging Het
Intu T C 3: 40,654,272 probably benign Het
Ltbp1 A G 17: 75,363,391 T1476A probably damaging Het
Mcoln2 C T 3: 146,183,561 T374M probably damaging Het
Mitf A G 6: 97,807,281 K33R probably benign Het
Nlgn1 G T 3: 25,435,842 probably benign Het
Nup133 A T 8: 123,904,579 I1072N probably damaging Het
Rock1 T A 18: 10,084,380 D951V probably damaging Het
Scgb2b26 T A 7: 33,944,349 E55D probably damaging Het
Scn8a T C 15: 101,013,573 V958A probably damaging Het
Sgk1 G A 10: 21,997,438 probably null Het
Shprh C T 10: 11,151,931 T94I probably benign Het
Smg1 A T 7: 118,171,859 probably benign Het
Spta1 G A 1: 174,217,943 V1556I probably benign Het
Trappc4 G A 9: 44,405,231 probably benign Het
Ube2d2b T C 5: 107,830,636 F51S possibly damaging Het
Wdfy3 T C 5: 101,848,349 T3234A probably damaging Het
Zbtb41 T G 1: 139,423,530 V127G probably damaging Het
Zfp608 A T 18: 54,895,214 probably benign Het
Other mutations in Txlna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Txlna APN 4 129634365 unclassified probably benign
IGL01472:Txlna APN 4 129632115 missense probably damaging 0.99
IGL02169:Txlna APN 4 129629613 missense probably damaging 0.99
IGL02801:Txlna APN 4 129640408 missense probably damaging 1.00
R0010:Txlna UTSW 4 129629086 missense probably benign 0.30
R0552:Txlna UTSW 4 129629191 missense probably benign 0.31
R1961:Txlna UTSW 4 129640262 missense probably benign
R2215:Txlna UTSW 4 129639318 missense possibly damaging 0.89
R2279:Txlna UTSW 4 129632142 missense probably damaging 1.00
R5356:Txlna UTSW 4 129630373 missense probably damaging 1.00
R6354:Txlna UTSW 4 129634412 missense probably damaging 1.00
R7208:Txlna UTSW 4 129631278 critical splice donor site probably null
R7343:Txlna UTSW 4 129632160 missense probably damaging 1.00
R7615:Txlna UTSW 4 129630319 missense probably damaging 1.00
R7783:Txlna UTSW 4 129632157 missense probably damaging 1.00
R7784:Txlna UTSW 4 129632157 missense probably damaging 1.00
R8023:Txlna UTSW 4 129639485 missense probably damaging 0.98
R8331:Txlna UTSW 4 129639486 missense probably damaging 0.99
Posted On2012-11-20