Incidental Mutation 'IGL00401:Txlng'
ID306589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txlng
Ensembl Gene ENSMUSG00000038344
Gene Nametaxilin gamma
SynonymsFiat, 4932441K18Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00401
Quality Score
Status
ChromosomeX
Chromosomal Location162778919-162829454 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 162782309 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 341 (K341*)
Ref Sequence ENSEMBL: ENSMUSP00000107935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033720] [ENSMUST00000041370] [ENSMUST00000112316] [ENSMUST00000112327]
Predicted Effect probably benign
Transcript: ENSMUST00000033720
SMART Domains Protein: ENSMUSP00000033720
Gene: ENSMUSG00000031353

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 18 87 1.9e-27 PFAM
WD40 113 152 2.57e0 SMART
WD40 165 205 1.78e-5 SMART
WD40 215 255 4.18e-2 SMART
WD40 261 301 3.07e-9 SMART
WD40 305 345 2.78e-7 SMART
WD40 362 402 8.75e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000041370
AA Change: K390*
SMART Domains Protein: ENSMUSP00000038615
Gene: ENSMUSG00000038344
AA Change: K390*

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
Pfam:Taxilin 136 445 4.8e-118 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112316
AA Change: K341*
SMART Domains Protein: ENSMUSP00000107935
Gene: ENSMUSG00000038344
AA Change: K341*

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
Pfam:Taxilin 84 396 1.2e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112327
SMART Domains Protein: ENSMUSP00000107946
Gene: ENSMUSG00000031353

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 17 88 2.9e-32 PFAM
WD40 104 143 2.57e0 SMART
WD40 156 196 1.78e-5 SMART
WD40 206 246 4.18e-2 SMART
WD40 252 292 3.07e-9 SMART
WD40 296 336 2.78e-7 SMART
WD40 353 393 8.75e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131463
Predicted Effect probably benign
Transcript: ENSMUST00000143681
SMART Domains Protein: ENSMUSP00000115354
Gene: ENSMUSG00000031353

DomainStartEndE-ValueType
WD40 33 73 8.75e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the taxilin family. The encoded protein binds to the C-terminal coiled-coil region of syntaxin family members 1A, 3A and 4A, and may play a role in intracellular vesicle trafficking. This gene is up-regulated by lipopolysaccharide and the gene product may be involved in cell cycle regulation. The related mouse protein was also shown to inhibit activating transcription factor 4-mediated transcription and thus regulate bone mass accrual. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alk T A 17: 71,895,748 D1164V probably damaging Het
Baiap3 T G 17: 25,244,328 L964F probably damaging Het
Cacna2d2 T A 9: 107,514,873 V471E probably damaging Het
Carmil3 C T 14: 55,498,298 T569M probably damaging Het
Dapk2 G T 9: 66,268,778 probably benign Het
Eps15l1 A T 8: 72,384,838 Y291* probably null Het
Fancd2 T C 6: 113,564,396 probably null Het
Fmnl2 T G 2: 53,114,917 D674E probably damaging Het
Foxq1 A T 13: 31,559,277 I121F probably damaging Het
Galnt13 C T 2: 54,516,535 probably benign Het
Git1 T C 11: 77,498,956 probably benign Het
Gm10220 A T 5: 26,118,611 F146Y possibly damaging Het
Gm7353 A G 7: 3,110,630 noncoding transcript Het
Hspa9 G A 18: 34,938,580 probably benign Het
Kptn A G 7: 16,120,125 D56G possibly damaging Het
Krtap4-13 A T 11: 99,809,717 C39S unknown Het
Lgsn A G 1: 31,203,566 K243R possibly damaging Het
Lyz2 C T 10: 117,282,185 V20I probably benign Het
Mettl3 T A 14: 52,296,967 probably benign Het
Myh6 T A 14: 54,953,417 M934L probably benign Het
Nmnat2 A G 1: 153,094,117 probably null Het
Pias2 T A 18: 77,133,211 C381S probably damaging Het
Psme4 T C 11: 30,821,079 probably benign Het
Smc4 T A 3: 69,030,379 D887E probably damaging Het
Sorcs2 C A 5: 36,037,401 probably null Het
Tet2 T C 3: 133,466,882 E1873G possibly damaging Het
Ugt2b37 T A 5: 87,242,481 T369S possibly damaging Het
Usp46 C A 5: 74,003,171 V302F probably damaging Het
Zfp292 A G 4: 34,808,683 C1454R probably benign Het
Other mutations in Txlng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00981:Txlng APN X 162784372 missense probably benign 0.12
IGL02972:Txlng APN X 162807555 missense probably damaging 1.00
Posted On2015-04-16