Incidental Mutation 'IGL00401:Txlng'
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
Chromosomal Location162778919-162829454 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 162782309 bp
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

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*

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*

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

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

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