Incidental Mutation 'R8508:Tctn1'
ID 655692
Institutional Source Beutler Lab
Gene Symbol Tctn1
Ensembl Gene ENSMUSG00000038593
Gene Name tectonic family member 1
Synonyms G730031O11Rik, Tect1
MMRRC Submission 067844-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 122377558-122402557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122384674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 410 (Q410L)
Ref Sequence ENSEMBL: ENSMUSP00000107367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072602] [ENSMUST00000100747] [ENSMUST00000111738] [ENSMUST00000141281]
AlphaFold Q8BZ64
Predicted Effect probably benign
Transcript: ENSMUST00000072602
SMART Domains Protein: ENSMUSP00000072401
Gene: ENSMUSG00000064267

DomainStartEndE-ValueType
low complexity region 46 63 N/A INTRINSIC
Pfam:Ion_trans 94 226 1.2e-9 PFAM
Pfam:VGPC1_C 222 269 1.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100747
SMART Domains Protein: ENSMUSP00000098312
Gene: ENSMUSG00000064267

DomainStartEndE-ValueType
low complexity region 46 63 N/A INTRINSIC
low complexity region 104 120 N/A INTRINSIC
Pfam:Ion_trans 137 226 2.9e-7 PFAM
low complexity region 255 266 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111738
AA Change: Q410L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593
AA Change: Q410L

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 silent
Transcript: ENSMUST00000141281
SMART Domains Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593

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: 99.5%
  • 20x: 98.0%
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 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T G 16: 90,852,500 (GRCm39) Y212S probably damaging Het
Angpt1 T C 15: 42,375,795 (GRCm39) N154D probably damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Ankrd27 T A 7: 35,301,051 (GRCm39) L117* probably null Het
Arhgap21 C T 2: 20,858,991 (GRCm39) M1234I probably benign Het
Arhgef33 A G 17: 80,674,764 (GRCm39) E387G probably damaging Het
Atp13a4 T A 16: 29,273,587 (GRCm39) K444* probably null Het
Atp6v1a G A 16: 43,922,225 (GRCm39) R338C probably damaging Het
Canx T C 11: 50,202,474 (GRCm39) D44G possibly damaging Het
Ccdc141 T A 2: 76,962,588 (GRCm39) M119L probably benign Het
Ckmt1 A C 2: 121,193,172 (GRCm39) Q299P possibly damaging Het
Dhx16 T C 17: 36,196,812 (GRCm39) S601P probably damaging Het
Dna2 A C 10: 62,786,673 (GRCm39) R140S probably damaging Het
Dock1 A G 7: 134,384,138 (GRCm39) T670A probably benign Het
Eif1ad10 T G 12: 88,216,455 (GRCm39) E139A unknown Het
Eogt A G 6: 97,120,959 (GRCm39) S85P possibly damaging Het
Fbf1 A T 11: 116,056,707 (GRCm39) M1K probably null Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Flnb G A 14: 7,950,394 (GRCm38) V2571I probably damaging Het
Gm43518 A G 5: 124,076,322 (GRCm39) E123G unknown Het
Gpatch2 A G 1: 187,036,552 (GRCm39) N374S probably benign Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Hoxa11 T C 6: 52,222,782 (GRCm39) probably benign Het
Hydin G A 8: 111,308,650 (GRCm39) V3979I probably benign Het
Ighe C T 12: 113,235,413 (GRCm39) W277* probably null Het
Kmt2c G T 5: 25,519,120 (GRCm39) T2330K probably benign Het
Krt6a T A 15: 101,601,170 (GRCm39) K261M probably damaging Het
Lats2 A C 14: 57,960,162 (GRCm39) S161A probably benign Het
Med13l T A 5: 118,892,386 (GRCm39) D1936E probably benign Het
Mipol1 T C 12: 57,352,874 (GRCm39) V71A possibly damaging Het
Mphosph8 A T 14: 56,914,003 (GRCm39) K415* probably null Het
Npepps A G 11: 97,135,252 (GRCm39) probably null Het
Ntn4 A T 10: 93,576,966 (GRCm39) N545Y possibly damaging Het
Or11g1 A C 14: 50,651,132 (GRCm39) M44L probably benign Het
Or1n1b A G 2: 36,780,366 (GRCm39) S165P probably damaging Het
Or2m12 T C 16: 19,105,451 (GRCm39) D14G probably benign Het
Or9i2 A T 19: 13,815,766 (GRCm39) M257K possibly damaging Het
Osbpl2 T A 2: 179,797,136 (GRCm39) V358E possibly damaging Het
Pdcd11 C A 19: 47,108,245 (GRCm39) P1204Q probably damaging Het
Pnliprp2 A C 19: 58,751,806 (GRCm39) S184R probably damaging Het
Ppm1g G T 5: 31,361,872 (GRCm39) R373S probably damaging Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Rps18-ps5 A G 13: 28,441,694 (GRCm39) I26V probably benign Het
Setd5 T C 6: 113,098,048 (GRCm39) S696P probably damaging Het
Sgip1 A G 4: 102,772,268 (GRCm39) Q219R probably benign Het
Slc1a2 T C 2: 102,566,430 (GRCm39) probably null Het
Slc22a12 T C 19: 6,592,467 (GRCm39) T106A probably benign Het
Slc22a14 A G 9: 119,009,651 (GRCm39) L148P probably damaging Het
Slc2a9 A T 5: 38,539,421 (GRCm39) F375I probably damaging Het
Sorbs3 A T 14: 70,440,396 (GRCm39) D117E probably benign Het
Spata31d1e A G 13: 59,891,412 (GRCm39) L136P probably benign Het
Sphkap G A 1: 83,254,221 (GRCm39) T1176I probably damaging Het
Supt16 A T 14: 52,419,046 (GRCm39) V193D probably damaging Het
Sytl3 A G 17: 6,995,690 (GRCm39) T362A probably damaging Het
Trbc2 T C 6: 41,524,711 (GRCm39) Y133H Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Vmn2r120 A G 17: 57,832,843 (GRCm39) V112A probably benign Het
Zfp354b A T 11: 50,814,297 (GRCm39) S209R probably benign Het
Zfp362 T C 4: 128,668,399 (GRCm39) H391R probably damaging Het
Other mutations in Tctn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Tctn1 APN 5 122,402,270 (GRCm39) missense probably benign 0.03
IGL02019:Tctn1 APN 5 122,396,912 (GRCm39) missense probably damaging 1.00
IGL02810:Tctn1 APN 5 122,380,664 (GRCm39) splice site probably null
R0648:Tctn1 UTSW 5 122,389,761 (GRCm39) missense probably benign 0.00
R0883:Tctn1 UTSW 5 122,402,207 (GRCm39) missense probably damaging 1.00
R0969:Tctn1 UTSW 5 122,379,840 (GRCm39) missense probably benign 0.27
R1172:Tctn1 UTSW 5 122,389,752 (GRCm39) nonsense probably null
R1959:Tctn1 UTSW 5 122,379,903 (GRCm39) splice site probably null
R2099:Tctn1 UTSW 5 122,380,772 (GRCm39) missense probably damaging 1.00
R4707:Tctn1 UTSW 5 122,399,468 (GRCm39) critical splice donor site probably null
R4836:Tctn1 UTSW 5 122,383,568 (GRCm39) missense probably benign
R5437:Tctn1 UTSW 5 122,396,942 (GRCm39) missense probably benign 0.29
R6149:Tctn1 UTSW 5 122,384,649 (GRCm39) missense probably benign 0.01
R6358:Tctn1 UTSW 5 122,399,575 (GRCm39) missense probably damaging 0.99
R6629:Tctn1 UTSW 5 122,380,731 (GRCm39) missense probably damaging 1.00
R6744:Tctn1 UTSW 5 122,402,209 (GRCm39) missense probably damaging 1.00
R6899:Tctn1 UTSW 5 122,387,019 (GRCm39) missense probably damaging 0.98
R7332:Tctn1 UTSW 5 122,399,547 (GRCm39) missense probably damaging 1.00
R7576:Tctn1 UTSW 5 122,386,071 (GRCm39) missense probably damaging 1.00
R7883:Tctn1 UTSW 5 122,402,375 (GRCm39) missense possibly damaging 0.73
R7909:Tctn1 UTSW 5 122,399,473 (GRCm39) missense probably damaging 1.00
R8277:Tctn1 UTSW 5 122,402,431 (GRCm39) start codon destroyed probably null 0.95
R8465:Tctn1 UTSW 5 122,379,859 (GRCm39) missense probably benign 0.00
R8493:Tctn1 UTSW 5 122,399,552 (GRCm39) missense probably damaging 1.00
R9146:Tctn1 UTSW 5 122,389,745 (GRCm39) missense possibly damaging 0.91
R9651:Tctn1 UTSW 5 122,384,576 (GRCm39) missense probably benign 0.18
R9764:Tctn1 UTSW 5 122,388,527 (GRCm39) missense possibly damaging 0.69
Z1088:Tctn1 UTSW 5 122,389,704 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGCACGATGTGTCAAGCC -3'
(R):5'- CCAATCAAGGAAGAGATTTACTGGC -3'

Sequencing Primer
(F):5'- ATGTGTCAAGCCCCAAGGTG -3'
(R):5'- AAGGAAGAGATTTACTGGCATGTTTG -3'
Posted On 2020-10-20