Mutagenetix > Incidental Mutation

Incidental Mutation 'R5620:Tctn3'

439829

Institutional Source

Beutler Lab

Gene Symbol

Tctn3

Ensembl Gene

ENSMUSG00000025008

Gene Name

tectonic family member 3

Synonyms

4930521E07Rik, Tect3

MMRRC Submission

043160-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5620 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40584890-40600677 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 40597361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 230 (E230*)

Ref Sequence

ENSEMBL: ENSMUSP00000123461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025981] [ENSMUST00000132452] [ENSMUST00000134063] [ENSMUST00000135795]

AlphaFold

Q8R2Q6

Predicted Effect

probably null
Transcript: ENSMUST00000025981
AA Change: E230*

SMART Domains

Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008
AA Change: E230*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF1619	78	379	6.3e-83	PFAM
low complexity region	578	590	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000132452
AA Change: E230*

SMART Domains

Protein: ENSMUSP00000121760
Gene: ENSMUSG00000025008
AA Change: E230*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF1619	78	364	3e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134063

SMART Domains

Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120

Domain	Start	End	E-Value	Type
Pfam:GDA1_CD39	69	500	6.9e-170	PFAM
transmembrane domain	506	528	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000135795
AA Change: E230*

SMART Domains

Protein: ENSMUSP00000123461
Gene: ENSMUSG00000025008
AA Change: E230*

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DUF1619	78	379	2.5e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163023

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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 the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,246,826 (GRCm39)	S511A	probably benign	Het
Abca3	C	T	17: 24,615,444 (GRCm39)	T845I	probably benign	Het
Acaa2	G	A	18: 74,938,945 (GRCm39)	A377T	possibly damaging	Het
Adcy4	C	A	14: 56,009,824 (GRCm39)	E743*	probably null	Het
Ahnak	T	A	19: 8,990,458 (GRCm39)	L3914*	probably null	Het
Akap1	G	T	11: 88,736,343 (GRCm39)	N106K	possibly damaging	Het
Arid2	C	T	15: 96,270,387 (GRCm39)	T1500I	probably benign	Het
Atp6v0a2	T	A	5: 124,783,909 (GRCm39)	Y252*	probably null	Het
C4bp	A	G	1: 130,581,090 (GRCm39)	S140P	probably damaging	Het
Cald1	A	G	6: 34,739,047 (GRCm39)	I384M	probably damaging	Het
Cdk12	A	G	11: 98,101,809 (GRCm39)	I556V	unknown	Het
Chmp2a	T	C	7: 12,766,237 (GRCm39)	S174G	probably benign	Het
Clybl	T	A	14: 122,548,755 (GRCm39)	N52K	probably damaging	Het
Cyp4a29	C	A	4: 115,108,088 (GRCm39)	S303R	probably benign	Het
Dab2	T	A	15: 6,447,796 (GRCm39)	D59E	probably damaging	Het
Dag1	C	A	9: 108,086,214 (GRCm39)	R309L	probably damaging	Het
Dync1i2	T	A	2: 71,088,483 (GRCm39)	M505K	probably benign	Het
Eif2b1	A	T	5: 124,717,075 (GRCm39)	M1K	probably null	Het
Epc1	A	G	18: 6,448,917 (GRCm39)	S577P	probably benign	Het
Eps8l1	T	A	7: 4,463,945 (GRCm39)	I23N	possibly damaging	Het
Etl4	A	G	2: 20,535,037 (GRCm39)	E164G	probably damaging	Het
Firrm	C	A	1: 163,789,613 (GRCm39)	G641*	probably null	Het
Gadl1	A	T	9: 115,766,230 (GRCm39)	M1L	probably benign	Het
Gda	T	C	19: 21,374,908 (GRCm39)	D336G	probably damaging	Het
Grm2	A	T	9: 106,527,645 (GRCm39)	V413D	probably damaging	Het
Hnrnpll	G	T	17: 80,346,051 (GRCm39)	N403K	probably damaging	Het
Ifit1	T	A	19: 34,625,238 (GRCm39)	F125I	probably damaging	Het
Igkv5-43	C	T	6: 69,800,892 (GRCm39)	V2I	probably benign	Het
Kat5	A	C	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Klc2	A	G	19: 5,162,884 (GRCm39)	V205A	probably damaging	Het
Klrb1c	T	A	6: 128,761,706 (GRCm39)	T133S	possibly damaging	Het
Krt20	A	G	11: 99,326,283 (GRCm39)	L157P	probably damaging	Het
Krt26	G	T	11: 99,228,597 (GRCm39)	T45N	possibly damaging	Het
Lama2	C	T	10: 26,866,876 (GRCm39)	D2873N	probably damaging	Het
Lig1	T	A	7: 13,020,532 (GRCm39)	C114S	possibly damaging	Het
Lonp1	G	C	17: 56,927,263 (GRCm39)	A330G	probably benign	Het
Maml2	A	T	9: 13,608,616 (GRCm39)	R21S	probably damaging	Het
Mrpl35	C	T	6: 71,794,720 (GRCm39)	V83I	probably benign	Het
Myo3b	A	G	2: 70,069,254 (GRCm39)	R498G	probably benign	Het
Nup153	C	A	13: 46,837,482 (GRCm39)	E1247*	probably null	Het
Or2t48	A	T	11: 58,420,557 (GRCm39)	M85K	probably damaging	Het
Pcdhac2	A	G	18: 37,277,257 (GRCm39)	N79S	probably benign	Het
Pcgf6	C	T	19: 47,036,406 (GRCm39)	G221D	probably damaging	Het
Phf11b	C	T	14: 59,558,953 (GRCm39)	D260N	probably benign	Het
Pla2g5	T	C	4: 138,531,921 (GRCm39)	M28V	possibly damaging	Het
Prpf8	T	C	11: 75,395,927 (GRCm39)	S1934P	possibly damaging	Het
Prr5	A	G	15: 84,640,570 (GRCm39)	S140G	probably benign	Het
Prrc2c	T	C	1: 162,501,098 (GRCm39)	D1235G	probably damaging	Het
Rasgrp2	T	C	19: 6,455,031 (GRCm39)	S254P	probably damaging	Het
Rassf8	C	T	6: 145,765,907 (GRCm39)		probably benign	Het
Rgs20	T	A	1: 4,982,666 (GRCm39)	E167D	probably damaging	Het
Rmnd1	G	T	10: 4,372,159 (GRCm39)	A180E	probably damaging	Het
Rnf103	A	G	6: 71,486,992 (GRCm39)	D541G	probably benign	Het
Rpl9	G	T	5: 65,546,468 (GRCm39)	Q140K	probably benign	Het
Sfmbt1	T	G	14: 30,506,148 (GRCm39)		probably null	Het
Shank1	C	A	7: 43,962,160 (GRCm39)	D10E	unknown	Het
Srrm4	G	T	5: 116,587,672 (GRCm39)		probably benign	Het
Sucla2	T	A	14: 73,832,836 (GRCm39)	V447E	probably damaging	Het
Tbc1d1	A	G	5: 64,331,055 (GRCm39)	D78G	probably benign	Het
Tcp1	T	A	17: 13,138,224 (GRCm39)		probably null	Het
Thsd7b	G	A	1: 130,090,673 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,797,811 (GRCm39)	M621V	probably benign	Het
Tnxb	A	T	17: 34,936,504 (GRCm39)	K2756*	probably null	Het
Trpm8	G	A	1: 88,287,373 (GRCm39)		probably null	Het
Txndc16	C	A	14: 45,373,335 (GRCm39)	V764F	possibly damaging	Het
Ush2a	A	T	1: 188,492,020 (GRCm39)	D3103V	possibly damaging	Het
Usp22	A	T	11: 61,049,206 (GRCm39)	I381N	probably damaging	Het
Zfp462	T	A	4: 55,013,464 (GRCm39)	M1810K	probably benign	Het
Zfp64	T	A	2: 168,741,888 (GRCm39)	M347L	possibly damaging	Het
Zfp69	T	C	4: 120,787,719 (GRCm39)	D532G	probably damaging	Het

Other mutations in Tctn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:Tctn3	APN	19	40,585,865 (GRCm39)	missense	probably damaging	0.99
IGL01326:Tctn3	APN	19	40,585,880 (GRCm39)	missense	probably damaging	1.00
IGL01351:Tctn3	APN	19	40,596,081 (GRCm39)	missense	probably benign	0.00
IGL01604:Tctn3	APN	19	40,593,746 (GRCm39)	splice site	probably null
IGL01844:Tctn3	APN	19	40,600,581 (GRCm39)	missense	probably damaging	0.99
IGL02469:Tctn3	APN	19	40,585,967 (GRCm39)	missense	probably benign	0.01
FR4449:Tctn3	UTSW	19	40,595,646 (GRCm39)	intron	probably benign
R0333:Tctn3	UTSW	19	40,595,711 (GRCm39)	missense	possibly damaging	0.86
R0409:Tctn3	UTSW	19	40,599,860 (GRCm39)	splice site	probably benign
R1573:Tctn3	UTSW	19	40,597,361 (GRCm39)	nonsense	probably null
R2288:Tctn3	UTSW	19	40,594,157 (GRCm39)	missense	probably damaging	1.00
R3792:Tctn3	UTSW	19	40,600,155 (GRCm39)	missense	probably benign	0.00
R3916:Tctn3	UTSW	19	40,596,093 (GRCm39)	missense	possibly damaging	0.68
R4033:Tctn3	UTSW	19	40,585,767 (GRCm39)	missense	probably benign	0.23
R4728:Tctn3	UTSW	19	40,594,186 (GRCm39)	missense	probably damaging	1.00
R5093:Tctn3	UTSW	19	40,600,548 (GRCm39)	missense	probably damaging	0.99
R5253:Tctn3	UTSW	19	40,595,685 (GRCm39)	missense	probably benign	0.25
R5334:Tctn3	UTSW	19	40,591,266 (GRCm39)	missense	probably benign	0.16
R6143:Tctn3	UTSW	19	40,597,671 (GRCm39)	missense	probably benign	0.03
R6166:Tctn3	UTSW	19	40,585,923 (GRCm39)	missense	possibly damaging	0.92
R7629:Tctn3	UTSW	19	40,599,780 (GRCm39)	missense	probably damaging	1.00
R8137:Tctn3	UTSW	19	40,593,785 (GRCm39)	missense	probably damaging	1.00
R8712:Tctn3	UTSW	19	40,600,170 (GRCm39)	missense	probably damaging	1.00
R8762:Tctn3	UTSW	19	40,595,636 (GRCm39)	missense	unknown
R9228:Tctn3	UTSW	19	40,596,692 (GRCm39)	missense	probably benign	0.01
R9294:Tctn3	UTSW	19	40,595,720 (GRCm39)	missense	probably benign	0.00
R9747:Tctn3	UTSW	19	40,599,743 (GRCm39)	missense	possibly damaging	0.46
Z1088:Tctn3	UTSW	19	40,595,790 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TTATAGTAAGAGGCAGCATCCAGG -3'
(R):5'- ACCGTGCTCATCAGAACTAC -3'

Sequencing Primer
(F):5'- GCTCCGAGGTGCAGCTACTG -3'
(R):5'- GTGCTCATCAGAACTACCTAGTTAAC -3'

Posted On

2016-11-08