Incidental Mutation 'R6899:Tctn1'
ID541011
Institutional Source Beutler Lab
Gene Symbol Tctn1
Ensembl Gene ENSMUSG00000038593
Gene Nametectonic family member 1
SynonymsG730031O11Rik, Tect1
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6899 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location122237848-122264460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122248956 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 299 (Y299H)
Ref Sequence ENSEMBL: ENSMUSP00000114820 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111738] [ENSMUST00000141281]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111738
AA Change: Y299H

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593
AA Change: Y299H

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 24 36 N/A INTRINSIC
Pfam:DUF1619 82 395 8.4e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000141281
AA Change: Y299H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593
AA Change: Y299H

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 24 36 N/A INTRINSIC
Pfam:DUF1619 82 384 1.5e-84 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.9%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality, holoprosencephaly and lack a neural floor plate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700021F05Rik T C 10: 43,532,784 E121G possibly damaging Het
Abca16 A G 7: 120,527,041 Y1140C probably damaging Het
Actl9 G A 17: 33,433,559 G198S probably damaging Het
Adcy2 A T 13: 68,982,381 M129K probably damaging Het
Apmap T A 2: 150,594,308 I107F probably benign Het
Arrdc3 T C 13: 80,889,211 I162T probably damaging Het
Asprv1 T C 6: 86,628,760 L196P probably damaging Het
Bag2 A G 1: 33,746,831 S137P possibly damaging Het
Borcs5 T A 6: 134,710,210 M177K probably benign Het
C8b A T 4: 104,786,874 K246M probably benign Het
Cdo1 A G 18: 46,723,340 C76R probably damaging Het
Ces2b T A 8: 104,836,766 probably null Het
Csf2rb G A 15: 78,340,702 S194N probably benign Het
Dap3 A G 3: 88,933,600 F77L probably benign Het
Dars A G 1: 128,413,746 V44A possibly damaging Het
Dhtkd1 T A 2: 5,917,965 D461V possibly damaging Het
Ero1l A C 14: 45,292,939 H345Q probably benign Het
Fam173b A G 15: 31,617,111 S163G probably benign Het
Fzd8 T A 18: 9,214,729 S604T probably damaging Het
Gpatch2l G A 12: 86,244,184 R47H probably damaging Het
Gramd1c T A 16: 44,040,142 Y64F probably benign Het
Heatr5b T A 17: 78,803,509 Y970F probably benign Het
Hoxc10 A G 15: 102,967,507 E217G possibly damaging Het
Hsd17b14 A T 7: 45,562,928 H128L possibly damaging Het
Idh2 TCCCAGG T 7: 80,098,331 probably benign Het
Ifna9 A G 4: 88,592,063 F108S probably damaging Het
Ikbke A G 1: 131,275,762 V58A probably damaging Het
Inpp5e G A 2: 26,400,048 R462C possibly damaging Het
Junb A G 8: 84,977,724 F236L probably benign Het
Klhl36 T C 8: 119,870,142 V194A probably benign Het
Lsg1 A T 16: 30,582,088 D134E probably benign Het
Megf8 G T 7: 25,360,713 C2343F probably damaging Het
Myom3 G A 4: 135,803,292 G1172R probably damaging Het
Nasp A T 4: 116,604,333 V548E probably damaging Het
Nubpl T A 12: 52,310,753 S317T probably benign Het
Nup210l A G 3: 90,167,897 D838G possibly damaging Het
Oxsr1 C T 9: 119,247,122 A373T probably benign Het
Psat1 C T 19: 15,918,205 probably null Het
Rsrc1 C T 3: 66,994,649 P44L unknown Het
Slain1 C T 14: 103,650,779 P45L possibly damaging Het
Slc16a8 A G 15: 79,253,749 V20A possibly damaging Het
Slc22a13 A T 9: 119,196,407 M145K probably damaging Het
Slc22a4 G A 11: 53,988,913 T440I probably damaging Het
Slc39a12 C T 2: 14,389,541 P74L probably damaging Het
Sod3 A G 5: 52,368,708 T250A unknown Het
Syne2 A G 12: 76,095,729 probably null Het
Tfcp2l1 A G 1: 118,675,575 M448V probably benign Het
Tfpi C T 2: 84,444,809 G152S probably damaging Het
Thap4 A G 1: 93,750,969 S32P probably damaging Het
Tmem132c T A 5: 127,551,680 W549R probably damaging Het
Vmn2r29 T C 7: 7,241,642 E411G probably damaging Het
Washc4 C A 10: 83,576,055 D683E probably benign Het
Wdr3 A T 3: 100,149,901 V462D possibly damaging Het
Wdr5b T C 16: 36,041,780 S90P probably damaging Het
Zfp407 A G 18: 84,561,434 L518P possibly damaging Het
Zfp53 A G 17: 21,508,445 I247V possibly damaging Het
Other mutations in Tctn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Tctn1 APN 5 122264207 missense probably benign 0.03
IGL02019:Tctn1 APN 5 122258849 missense probably damaging 1.00
IGL02810:Tctn1 APN 5 122242601 splice site probably null
R0648:Tctn1 UTSW 5 122251698 missense probably benign 0.00
R0883:Tctn1 UTSW 5 122264144 missense probably damaging 1.00
R0969:Tctn1 UTSW 5 122241777 missense probably benign 0.27
R1172:Tctn1 UTSW 5 122251689 nonsense probably null
R1959:Tctn1 UTSW 5 122241840 splice site probably null
R2099:Tctn1 UTSW 5 122242709 missense probably damaging 1.00
R4707:Tctn1 UTSW 5 122261405 critical splice donor site probably null
R4836:Tctn1 UTSW 5 122245505 missense probably benign
R5437:Tctn1 UTSW 5 122258879 missense probably benign 0.29
R6149:Tctn1 UTSW 5 122246586 missense probably benign 0.01
R6358:Tctn1 UTSW 5 122261512 missense probably damaging 0.99
R6629:Tctn1 UTSW 5 122242668 missense probably damaging 1.00
R6744:Tctn1 UTSW 5 122264146 missense probably damaging 1.00
R7332:Tctn1 UTSW 5 122261484 missense probably damaging 1.00
R7576:Tctn1 UTSW 5 122248008 missense probably damaging 1.00
Z1088:Tctn1 UTSW 5 122251641 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCATGGTATGGAGCACAG -3'
(R):5'- CAAGAGTGAGTTTACAGCATGCAC -3'

Sequencing Primer
(F):5'- TATGGAGCACAGTGCCCTCTG -3'
(R):5'- TTTACAGCATGCACAGCGTG -3'
Posted On2018-11-28