Incidental Mutation 'IGL02972:Txlng'
ID365839
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 #IGL02972
Quality Score
Status
ChromosomeX
Chromosomal Location162778919-162829454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 162807555 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 94 (M94T)
Ref Sequence ENSEMBL: ENSMUSP00000107934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041370] [ENSMUST00000112314] [ENSMUST00000112315] [ENSMUST00000112316]
Predicted Effect probably damaging
Transcript: ENSMUST00000041370
AA Change: M143T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038615
Gene: ENSMUSG00000038344
AA Change: M143T

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
Pfam:Taxilin 136 445 4.8e-118 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112314
AA Change: M55T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107933
Gene: ENSMUSG00000038344
AA Change: M55T

DomainStartEndE-ValueType
Pfam:Taxilin 45 202 1e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112315
AA Change: M94T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107934
Gene: ENSMUSG00000038344
AA Change: M94T

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
Pfam:Taxilin 84 241 3.6e-54 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112316
AA Change: M94T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107935
Gene: ENSMUSG00000038344
AA Change: M94T

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
Pfam:Taxilin 84 396 1.2e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131463
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 36,978,520 I105F possibly damaging Het
Bmpr1b C T 3: 141,870,758 D105N probably benign Het
Ces2e A T 8: 104,927,061 S44C probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Chst15 T C 7: 132,269,173 D211G probably damaging Het
Dpp4 T C 2: 62,352,225 S571G probably damaging Het
Gna11 T C 10: 81,533,391 I113V probably benign Het
Grm3 T C 5: 9,512,410 Y480C probably damaging Het
Mccc1 C T 3: 35,985,089 V252I possibly damaging Het
Nol12 A G 15: 78,940,599 T209A probably damaging Het
Olfr1384 G A 11: 49,514,091 G151D probably damaging Het
Olfr622 A G 7: 103,639,894 M82T probably damaging Het
Olfr859 T C 9: 19,808,942 F208S probably damaging Het
P3h1 C A 4: 119,247,960 Q712K possibly damaging Het
Per2 T A 1: 91,423,981 E934D possibly damaging Het
Pfkl T C 10: 77,988,274 D760G probably benign Het
Piezo2 C A 18: 63,064,785 probably benign Het
Pkd1l1 C T 11: 8,863,908 R1481Q probably damaging Het
Plpp3 T C 4: 105,208,792 V189A possibly damaging Het
Pnpla1 A G 17: 28,886,947 E592G probably null Het
Prdm2 A T 4: 143,132,166 M1518K probably benign Het
Rhbdl3 G A 11: 80,331,916 probably benign Het
Rnf145 C T 11: 44,564,038 S582F probably benign Het
Rsf1 A G 7: 97,661,326 D421G probably benign Het
Serac1 A C 17: 6,070,764 L85* probably null Het
Slc43a1 T G 2: 84,860,118 V460G probably damaging Het
Slc7a6 G A 8: 106,179,427 C97Y probably damaging Het
Slco5a1 A T 1: 12,990,155 L114* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taok1 A G 11: 77,559,758 V396A probably benign Het
Tmem232 T A 17: 65,476,673 H233L probably benign Het
Tmprss11c C T 5: 86,237,833 S247N possibly damaging Het
Tnc C T 4: 63,976,478 S1557N probably benign Het
Ube2b A T 11: 51,988,682 I87K probably damaging Het
Ubr5 A T 15: 38,041,952 S133R probably damaging Het
Ugt1a5 C T 1: 88,166,422 T124I probably benign Het
Vamp1 G T 6: 125,219,647 R117L probably benign Het
Vmn1r87 G T 7: 13,132,329 Y10* probably null Het
Zan G A 5: 137,463,686 T1077I unknown Het
Zc2hc1b C A 10: 13,171,281 V29F probably damaging Het
Zfp597 T C 16: 3,866,523 D123G probably benign Het
Other mutations in Txlng
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Txlng APN X 162782309 nonsense probably null
IGL00981:Txlng APN X 162784372 missense probably benign 0.12
Posted On2015-12-18