Mutagenetix > Incidental Mutations

Incidental Mutation 'R8508:Tctn1'

655692

Institutional Source

Beutler Lab

Gene Symbol

Tctn1

Ensembl Gene

ENSMUSG00000038593

Gene Name

tectonic family member 1

Synonyms

G730031O11Rik, Tect1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122237848-122264460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122246611 bp

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]

Predicted Effect

probably benign
Transcript: ENSMUST00000072602

SMART Domains

Protein: ENSMUSP00000072401
Gene: ENSMUSG00000064267

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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

silent
Transcript: ENSMUST00000141281

SMART Domains

Protein: ENSMUSP00000114820
Gene: ENSMUSG00000038593

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2020-10-20