Mutagenetix > Incidental Mutation

Incidental Mutation 'R1172:Tctn1'

99549

Institutional Source

Beutler Lab

Gene Symbol

Tctn1

Ensembl Gene

ENSMUSG00000038593

Gene Name

tectonic family member 1

Synonyms

G730031O11Rik, Tect1

MMRRC Submission

039245-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1172 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

122377558-122402557 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 122389752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 257 (R257*)

Ref Sequence

ENSEMBL: ENSMUSP00000114820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111738] [ENSMUST00000141281]

AlphaFold

Q8BZ64

Predicted Effect

probably null
Transcript: ENSMUST00000111738
AA Change: R257*

SMART Domains

Protein: ENSMUSP00000107367
Gene: ENSMUSG00000038593
AA Change: R257*

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000120264

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137118

Predicted Effect

probably null
Transcript: ENSMUST00000141281
AA Change: R257*

SMART Domains

Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593
AA Change: R257*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	24	36	N/A	INTRINSIC
Pfam:DUF1619	82	384	1.5e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177148

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (62/63)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam7	T	G	14: 68,752,370 (GRCm39)	K371N	probably damaging	Het
Adgrv1	A	T	13: 81,705,182 (GRCm39)	S1543T	probably damaging	Het
Agbl4	A	T	4: 111,513,515 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,389,575 (GRCm39)	I1707N	probably damaging	Het
Atp10a	T	C	7: 58,453,514 (GRCm39)	V864A	probably benign	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bst1	A	G	5: 43,982,750 (GRCm39)		probably null	Het
C9orf72	C	A	4: 35,218,630 (GRCm39)	E76D	probably damaging	Het
Cblb	T	C	16: 52,006,603 (GRCm39)		probably benign	Het
Ccdc28b	T	C	4: 129,514,682 (GRCm39)		probably benign	Het
Cmas	G	T	6: 142,702,604 (GRCm39)	G36C	probably benign	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Epc1	A	C	18: 6,490,525 (GRCm39)	Y31D	probably damaging	Het
Fbn1	A	T	2: 125,236,607 (GRCm39)	C358S	probably benign	Het
Fbxl13	A	T	5: 21,825,602 (GRCm39)		probably benign	Het
Fermt2	T	C	14: 45,697,425 (GRCm39)	D642G	possibly damaging	Het
Fmnl2	A	T	2: 52,962,286 (GRCm39)	N257I	probably damaging	Het
Fry	G	A	5: 150,404,959 (GRCm39)	W793*	probably null	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm10801	C	T	2: 98,494,252 (GRCm39)		probably benign	Het
Gm21718	T	C	14: 51,553,348 (GRCm39)		noncoding transcript	Het
Gpld1	A	G	13: 25,141,549 (GRCm39)		probably null	Het
Gtf3c2	A	T	5: 31,325,419 (GRCm39)	Y500N	probably damaging	Het
Hbs1l	A	G	10: 21,180,537 (GRCm39)	D73G	probably damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Lamc2	A	T	1: 153,042,033 (GRCm39)	S34T	probably damaging	Het
Laptm4a	T	C	12: 8,986,716 (GRCm39)	V258A	probably damaging	Het
Lrrc19	A	T	4: 94,526,626 (GRCm39)	Y310*	probably null	Het
Map3k5	G	A	10: 19,932,394 (GRCm39)		probably benign	Het
Map7	G	A	10: 20,121,045 (GRCm39)	E92K	probably damaging	Het
Mettl24	G	A	10: 40,613,704 (GRCm39)	A148T	probably benign	Het
Mosmo	A	G	7: 120,329,745 (GRCm39)	Y122C	probably benign	Het
Ncr1	T	A	7: 4,341,120 (GRCm39)	I37N	probably benign	Het
Nkx3-1	T	C	14: 69,429,434 (GRCm39)	S151P	probably damaging	Het
Npm2	T	A	14: 70,889,661 (GRCm39)	K54*	probably null	Het
Npr1	T	A	3: 90,368,689 (GRCm39)	D457V	probably benign	Het
Nudt21	T	C	8: 94,757,757 (GRCm39)		probably benign	Het
Pcnt	A	T	10: 76,228,878 (GRCm39)		probably null	Het
Pik3r4	G	T	9: 105,540,373 (GRCm39)	G754C	probably damaging	Het
Rftn2	A	G	1: 55,250,376 (GRCm39)	V123A	probably damaging	Het
Rpa1	A	T	11: 75,203,219 (GRCm39)	V392D	probably damaging	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Slc45a4	C	T	15: 73,477,278 (GRCm39)		probably benign	Het
Syndig1l	T	A	12: 84,725,942 (GRCm39)		probably null	Het
Tenm4	A	T	7: 96,497,251 (GRCm39)	E1179V	probably damaging	Het
Txlnb	A	G	10: 17,718,504 (GRCm39)	N445S	probably benign	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Ubap2l	A	T	3: 89,930,807 (GRCm39)	S413T	probably benign	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn2r66	G	T	7: 84,654,799 (GRCm39)	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Vmn2r87	T	C	10: 130,313,453 (GRCm39)	T438A	probably benign	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Ywhaq	T	C	12: 21,445,024 (GRCm39)	N207S	probably benign	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zfp981	G	A	4: 146,622,221 (GRCm39)	S382N	probably benign	Het

Other mutations in Tctn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R8508:Tctn1	UTSW	5	122,384,674 (GRCm39)	missense	probably benign	0.09
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

Posted On

2014-01-15