Incidental Mutation 'IGL01351:Tctn3'
ID 75363
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tctn3
Ensembl Gene ENSMUSG00000025008
Gene Name tectonic family member 3
Synonyms 4930521E07Rik, Tect3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01351
Quality Score
Status
Chromosome 19
Chromosomal Location 40584890-40600677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40596081 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 309 (I309V)
Ref Sequence ENSEMBL: ENSMUSP00000121760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025981] [ENSMUST00000132452] [ENSMUST00000134063] [ENSMUST00000135795]
AlphaFold Q8R2Q6
Predicted Effect probably benign
Transcript: ENSMUST00000025981
AA Change: I309V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008
AA Change: I309V

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
AA Change: I309V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000121760
Gene: ENSMUSG00000025008
AA Change: I309V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF1619 78 364 3e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134063
SMART Domains Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120

DomainStartEndE-ValueType
Pfam:GDA1_CD39 69 500 6.9e-170 PFAM
transmembrane domain 506 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135795
AA Change: I309V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000123461
Gene: ENSMUSG00000025008
AA Change: I309V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF1619 78 379 2.5e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163023
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,217,565 (GRCm39) S336P probably benign Het
Abca9 T C 11: 110,039,729 (GRCm39) Y428C probably damaging Het
Alpk1 T C 3: 127,466,011 (GRCm39) Q1165R probably damaging Het
Angel2 C A 1: 190,665,310 (GRCm39) N80K probably benign Het
Bmp6 T C 13: 38,653,610 (GRCm39) S226P probably damaging Het
Ccar2 T C 14: 70,383,311 (GRCm39) T229A probably benign Het
Cdh12 G A 15: 21,237,989 (GRCm39) V75M probably damaging Het
Cdh6 G T 15: 13,034,326 (GRCm39) A778E possibly damaging Het
Corin A T 5: 72,496,334 (GRCm39) C540S probably damaging Het
Cyfip1 C A 7: 55,547,991 (GRCm39) Y530* probably null Het
Dock10 T G 1: 80,570,876 (GRCm39) K327N probably damaging Het
Dpy19l3 A G 7: 35,426,840 (GRCm39) probably benign Het
E2f8 T C 7: 48,516,899 (GRCm39) T827A probably benign Het
Edem3 T C 1: 151,668,136 (GRCm39) V305A possibly damaging Het
Fam170a T C 18: 50,414,845 (GRCm39) W164R probably benign Het
Fbxw14 T C 9: 109,103,640 (GRCm39) D24G possibly damaging Het
Gnmt T C 17: 47,037,606 (GRCm39) D124G probably benign Het
Gpx5 T C 13: 21,471,669 (GRCm39) D178G probably damaging Het
Gsdmd T A 15: 75,736,186 (GRCm39) I105N probably damaging Het
Hps5 C T 7: 46,410,856 (GRCm39) M1113I probably damaging Het
Hyal6 T C 6: 24,734,178 (GRCm39) F37S probably damaging Het
Il17c C T 8: 123,148,862 (GRCm39) T2I probably benign Het
Lyz1 A G 10: 117,127,093 (GRCm39) C48R probably damaging Het
Or52e18 T A 7: 104,609,946 (GRCm39) probably benign Het
Pafah1b3 G A 7: 24,994,570 (GRCm39) R215C possibly damaging Het
Psmb4 A T 3: 94,793,538 (GRCm39) probably null Het
Rnf213 T C 11: 119,373,944 (GRCm39) V5009A probably benign Het
Sema6a T C 18: 47,414,369 (GRCm39) K494E possibly damaging Het
Sfmbt1 T C 14: 30,491,777 (GRCm39) V17A probably benign Het
Speg T A 1: 75,387,920 (GRCm39) probably benign Het
Spint1 A G 2: 119,076,936 (GRCm39) D340G probably damaging Het
Tasor A G 14: 27,186,258 (GRCm39) E819G probably benign Het
Tex19.1 T A 11: 121,038,072 (GRCm39) D143E probably damaging Het
Tktl2 A G 8: 66,965,548 (GRCm39) I369V probably benign Het
Tm2d2 A G 8: 25,510,573 (GRCm39) probably benign Het
Traf4 C A 11: 78,056,226 (GRCm39) R14L possibly damaging Het
Zfhx4 A G 3: 5,466,196 (GRCm39) Y2118C probably damaging Het
Zmynd15 C A 11: 70,354,416 (GRCm39) N425K probably benign Het
Other mutations in Tctn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Tctn3 APN 19 40,585,865 (GRCm39) missense probably damaging 0.99
IGL01326:Tctn3 APN 19 40,585,880 (GRCm39) missense probably damaging 1.00
IGL01604:Tctn3 APN 19 40,593,746 (GRCm39) splice site probably null
IGL01844:Tctn3 APN 19 40,600,581 (GRCm39) missense probably damaging 0.99
IGL02469:Tctn3 APN 19 40,585,967 (GRCm39) missense probably benign 0.01
FR4449:Tctn3 UTSW 19 40,595,646 (GRCm39) intron probably benign
R0333:Tctn3 UTSW 19 40,595,711 (GRCm39) missense possibly damaging 0.86
R0409:Tctn3 UTSW 19 40,599,860 (GRCm39) splice site probably benign
R1573:Tctn3 UTSW 19 40,597,361 (GRCm39) nonsense probably null
R2288:Tctn3 UTSW 19 40,594,157 (GRCm39) missense probably damaging 1.00
R3792:Tctn3 UTSW 19 40,600,155 (GRCm39) missense probably benign 0.00
R3916:Tctn3 UTSW 19 40,596,093 (GRCm39) missense possibly damaging 0.68
R4033:Tctn3 UTSW 19 40,585,767 (GRCm39) missense probably benign 0.23
R4728:Tctn3 UTSW 19 40,594,186 (GRCm39) missense probably damaging 1.00
R5093:Tctn3 UTSW 19 40,600,548 (GRCm39) missense probably damaging 0.99
R5253:Tctn3 UTSW 19 40,595,685 (GRCm39) missense probably benign 0.25
R5334:Tctn3 UTSW 19 40,591,266 (GRCm39) missense probably benign 0.16
R5620:Tctn3 UTSW 19 40,597,361 (GRCm39) nonsense probably null
R6143:Tctn3 UTSW 19 40,597,671 (GRCm39) missense probably benign 0.03
R6166:Tctn3 UTSW 19 40,585,923 (GRCm39) missense possibly damaging 0.92
R7629:Tctn3 UTSW 19 40,599,780 (GRCm39) missense probably damaging 1.00
R8137:Tctn3 UTSW 19 40,593,785 (GRCm39) missense probably damaging 1.00
R8712:Tctn3 UTSW 19 40,600,170 (GRCm39) missense probably damaging 1.00
R8762:Tctn3 UTSW 19 40,595,636 (GRCm39) missense unknown
R9228:Tctn3 UTSW 19 40,596,692 (GRCm39) missense probably benign 0.01
R9294:Tctn3 UTSW 19 40,595,720 (GRCm39) missense probably benign 0.00
R9747:Tctn3 UTSW 19 40,599,743 (GRCm39) missense possibly damaging 0.46
Z1088:Tctn3 UTSW 19 40,595,790 (GRCm39) missense possibly damaging 0.82
Posted On 2013-10-07