Incidental Mutation 'R8508:Tctn1'
ID655692
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 #R8508 (G1)
Quality Score225.009
Status Not validated
Chromosome5
Chromosomal Location122237848-122264460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 122246611 bp
ZygosityHeterozygous
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]
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
1700014D04Rik A G 13: 59,743,598 L136P probably benign Het
4932438H23Rik T G 16: 91,055,612 Y212S probably damaging Het
Angpt1 T C 15: 42,512,399 N154D probably damaging Het
Angpt2 G A 8: 18,741,119 R54* probably null Het
Ankrd27 T A 7: 35,601,626 L117* probably null Het
Arhgap21 C T 2: 20,854,180 M1234I probably benign Het
Arhgef33 A G 17: 80,367,335 E387G probably damaging Het
Atp13a4 T A 16: 29,454,769 K444* probably null Het
Atp6v1a G A 16: 44,101,862 R338C probably damaging Het
Canx T C 11: 50,311,647 D44G possibly damaging Het
Ccdc141 T A 2: 77,132,244 M119L probably benign Het
Ckmt1 A C 2: 121,362,691 Q299P possibly damaging Het
Dhx16 T C 17: 35,885,920 S601P probably damaging Het
Dna2 A C 10: 62,950,894 R140S probably damaging Het
Dock1 A G 7: 134,782,409 T670A probably benign Het
Eogt A G 6: 97,143,998 S85P possibly damaging Het
Fbf1 A T 11: 116,165,881 M1K probably null Het
Fbxl12 C A 9: 20,638,864 R165L possibly damaging Het
Flnb G A 14: 7,950,394 V2571I probably damaging Het
Gm11361 A G 13: 28,257,711 I26V probably benign Het
Gm43518 A G 5: 123,938,259 E123G unknown Het
Gm8332 T G 12: 88,249,685 E139A unknown Het
Gpatch2 A G 1: 187,304,355 N374S probably benign Het
Hey1 G C 3: 8,664,776 A207G probably benign Het
Hoxa11 T C 6: 52,245,802 probably benign Het
Hydin G A 8: 110,582,018 V3979I probably benign Het
Ighe C T 12: 113,271,793 W277* probably null Het
Kmt2c G T 5: 25,314,122 T2330K probably benign Het
Krt6a T A 15: 101,692,735 K261M probably damaging Het
Lats2 A C 14: 57,722,705 S161A probably benign Het
Med13l T A 5: 118,754,321 D1936E probably benign Het
Mipol1 T C 12: 57,306,088 V71A possibly damaging Het
Mphosph8 A T 14: 56,676,546 K415* probably null Het
Npepps A G 11: 97,244,426 probably null Het
Ntn4 A T 10: 93,741,104 N545Y possibly damaging Het
Olfr1501 A T 19: 13,838,402 M257K possibly damaging Het
Olfr164 T C 16: 19,286,701 D14G probably benign Het
Olfr353 A G 2: 36,890,354 S165P probably damaging Het
Olfr738 A C 14: 50,413,675 M44L probably benign Het
Osbpl2 T A 2: 180,155,343 V358E possibly damaging Het
Pdcd11 C A 19: 47,119,806 P1204Q probably damaging Het
Pnliprp2 A C 19: 58,763,374 S184R probably damaging Het
Ppm1g G T 5: 31,204,528 R373S probably damaging Het
Rnf130 A G 11: 50,087,437 D275G probably damaging Het
Setd5 T C 6: 113,121,087 S696P probably damaging Het
Sgip1 A G 4: 102,915,071 Q219R probably benign Het
Slc1a2 T C 2: 102,736,085 probably null Het
Slc22a12 T C 19: 6,542,437 T106A probably benign Het
Slc22a14 A G 9: 119,180,585 L148P probably damaging Het
Slc2a9 A T 5: 38,382,078 F375I probably damaging Het
Sorbs3 A T 14: 70,202,947 D117E probably benign Het
Sphkap G A 1: 83,276,500 T1176I probably damaging Het
Supt16 A T 14: 52,181,589 V193D probably damaging Het
Sytl3 A G 17: 6,728,291 T362A probably damaging Het
Trbc2 T C 6: 41,547,777 Y133H Het
Ttc28 G A 5: 111,233,341 D1240N probably benign Het
Vmn2r120 A G 17: 57,525,843 V112A probably benign Het
Zfp354b A T 11: 50,923,470 S209R probably benign Het
Zfp362 T C 4: 128,774,606 H391R probably 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
R6899:Tctn1 UTSW 5 122248956 missense probably damaging 0.98
R7332:Tctn1 UTSW 5 122261484 missense probably damaging 1.00
R7576:Tctn1 UTSW 5 122248008 missense probably damaging 1.00
R7883:Tctn1 UTSW 5 122264312 missense possibly damaging 0.73
R7909:Tctn1 UTSW 5 122261410 missense probably damaging 1.00
R8277:Tctn1 UTSW 5 122264368 start codon destroyed probably null 0.95
R8465:Tctn1 UTSW 5 122241796 missense probably benign 0.00
R8493:Tctn1 UTSW 5 122261489 missense probably damaging 1.00
Z1088:Tctn1 UTSW 5 122251641 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 On2020-10-20