Incidental Mutation 'IGL01604:Tctn3'
ID92695
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tctn3
Ensembl Gene ENSMUSG00000025008
Gene Nametectonic family member 3
Synonyms4930521E07Rik, Tect3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01604
Quality Score
Status
Chromosome19
Chromosomal Location40596446-40612233 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 40605302 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025981] [ENSMUST00000132452] [ENSMUST00000135795]
Predicted Effect probably null
Transcript: ENSMUST00000025981
SMART Domains Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF1619 78 379 6.3e-83 PFAM
low complexity region 578 590 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132452
SMART Domains Protein: ENSMUSP00000121760
Gene: ENSMUSG00000025008

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF1619 78 364 3e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135795
AA Change: R475G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123461
Gene: ENSMUSG00000025008
AA Change: R475G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF1619 78 379 2.5e-82 PFAM
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 tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,155,324 N1792D probably benign Het
Abca5 T A 11: 110,277,636 I1416L possibly damaging Het
Abcc4 A T 14: 118,527,994 M992K possibly damaging Het
Adnp A G 2: 168,184,338 S346P probably damaging Het
Atad2b A T 12: 4,965,837 probably benign Het
Ccl12 A G 11: 82,103,233 *105W probably null Het
Chd1 A G 17: 15,770,097 D1637G possibly damaging Het
Cpeb2 T C 5: 43,278,695 probably null Het
Cul4a T C 8: 13,133,843 probably null Het
Dlg1 T A 16: 31,856,438 probably benign Het
Fam171b A G 2: 83,879,600 T539A possibly damaging Het
Gif A G 19: 11,757,762 T249A probably benign Het
Gm9696 A C 3: 59,972,302 noncoding transcript Het
Jmjd1c T C 10: 67,249,762 F2444L probably damaging Het
Knl1 T A 2: 119,070,001 F728I probably damaging Het
Megf9 C A 4: 70,448,791 C318F probably null Het
Mpi G A 9: 57,550,742 A59V possibly damaging Het
Mrps28 A G 3: 8,900,070 I103T probably damaging Het
Msantd2 G A 9: 37,522,848 R329H probably benign Het
Myh7b C T 2: 155,632,407 L1681F probably damaging Het
Nf1 C T 11: 79,441,709 probably benign Het
Olfr1302 A G 2: 111,780,590 K90R possibly damaging Het
Olfr1475 G A 19: 13,479,248 probably benign Het
Rapgef6 G A 11: 54,694,563 E1596K probably damaging Het
Serpinb3b T C 1: 107,154,724 E270G probably benign Het
Skor2 C A 18: 76,859,951 A456E possibly damaging Het
Slc13a2 A G 11: 78,403,395 I220T possibly damaging Het
Slc6a1 T A 6: 114,314,401 M361K probably damaging Het
Tars2 G A 3: 95,740,278 R608C probably damaging Het
Tex14 A G 11: 87,509,698 I439V possibly damaging Het
Thbs2 T A 17: 14,678,769 I690F probably benign Het
Vwa8 A G 14: 79,180,804 I1684V possibly damaging Het
Xdh T C 17: 73,909,337 I705V probably benign Het
Other mutations in Tctn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Tctn3 APN 19 40597421 missense probably damaging 0.99
IGL01326:Tctn3 APN 19 40597436 missense probably damaging 1.00
IGL01351:Tctn3 APN 19 40607637 missense probably benign 0.00
IGL01844:Tctn3 APN 19 40612137 missense probably damaging 0.99
IGL02469:Tctn3 APN 19 40597523 missense probably benign 0.01
FR4449:Tctn3 UTSW 19 40607202 intron probably benign
R0333:Tctn3 UTSW 19 40607267 missense possibly damaging 0.86
R0409:Tctn3 UTSW 19 40611416 splice site probably benign
R1573:Tctn3 UTSW 19 40608917 nonsense probably null
R2288:Tctn3 UTSW 19 40605713 missense probably damaging 1.00
R3792:Tctn3 UTSW 19 40611711 missense probably benign 0.00
R3916:Tctn3 UTSW 19 40607649 missense possibly damaging 0.68
R4033:Tctn3 UTSW 19 40597323 missense probably benign 0.23
R4728:Tctn3 UTSW 19 40605742 missense probably damaging 1.00
R5093:Tctn3 UTSW 19 40612104 missense probably damaging 0.99
R5253:Tctn3 UTSW 19 40607241 missense probably benign 0.25
R5334:Tctn3 UTSW 19 40602822 missense probably benign 0.16
R5620:Tctn3 UTSW 19 40608917 nonsense probably null
R6143:Tctn3 UTSW 19 40609227 missense probably benign 0.03
R6166:Tctn3 UTSW 19 40597479 missense possibly damaging 0.92
R7629:Tctn3 UTSW 19 40611336 missense probably damaging 1.00
R8137:Tctn3 UTSW 19 40605341 missense probably damaging 1.00
R8712:Tctn3 UTSW 19 40611726 missense probably damaging 1.00
R8762:Tctn3 UTSW 19 40607192 missense unknown
Z1088:Tctn3 UTSW 19 40607346 missense possibly damaging 0.82
Posted On2013-12-09