Mutagenetix > Incidental Mutation

Incidental Mutation 'R5334:Tctn3'

423447

Institutional Source

Beutler Lab

Gene Symbol

Tctn3

Ensembl Gene

ENSMUSG00000025008

Gene Name

tectonic family member 3

Synonyms

4930521E07Rik, Tect3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40584890-40600677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 40591266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 514 (Q514K)

Ref Sequence

ENSEMBL: ENSMUSP00000025981 (fasta)

Gene Model

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

AlphaFold

Q8R2Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000025981
AA Change: Q514K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000025981
Gene: ENSMUSG00000025008
AA Change: Q514K

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 benign
Transcript: ENSMUST00000132452

SMART Domains

Protein: ENSMUSP00000121760
Gene: ENSMUSG00000025008

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: ENSMUST00000135795

SMART Domains

Protein: ENSMUSP00000123461
Gene: ENSMUSG00000025008

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ap4s1	C	T	12: 51,785,454 (GRCm39)	S142L	probably benign	Het
Apol11a	A	G	15: 77,400,953 (GRCm39)	T147A	probably benign	Het
Aqp9	T	C	9: 71,030,292 (GRCm39)		probably null	Het
Arhgap25	T	A	6: 87,440,243 (GRCm39)	N468I	possibly damaging	Het
Arhgef2	T	A	3: 88,553,636 (GRCm39)	S924R	probably damaging	Het
Atad3a	A	T	4: 155,840,146 (GRCm39)	L144Q	probably damaging	Het
Ccbe1	T	C	18: 66,216,316 (GRCm39)	I136V	probably damaging	Het
Col24a1	C	A	3: 145,167,280 (GRCm39)	P1119Q	possibly damaging	Het
Dgkd	T	C	1: 87,865,989 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,542,805 (GRCm39)	I2455T	probably benign	Het
Dock2	T	C	11: 34,178,643 (GRCm39)	T1795A	probably benign	Het
Dpp6	A	T	5: 27,914,538 (GRCm39)	E541V	probably benign	Het
Edem1	T	C	6: 108,825,793 (GRCm39)		probably null	Het
Fbxo41	A	G	6: 85,455,465 (GRCm39)	V573A	probably damaging	Het
Fech	A	C	18: 64,597,191 (GRCm39)	V256G	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gal3st4	T	G	5: 138,263,983 (GRCm39)	K339Q	probably benign	Het
Gpr158	T	A	2: 21,832,316 (GRCm39)	S1139T	probably benign	Het
Gpr180	A	T	14: 118,397,468 (GRCm39)	S321C	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
Grin2c	T	G	11: 115,146,881 (GRCm39)	N438T	possibly damaging	Het
Hcn2	T	C	10: 79,562,125 (GRCm39)	S374P	probably damaging	Het
Hmcn1	T	A	1: 150,631,123 (GRCm39)	I892F	probably damaging	Het
Ifi207	C	T	1: 173,555,097 (GRCm39)	V869I	probably benign	Het
Itgad	T	C	7: 127,788,458 (GRCm39)	Y390H	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnj15	A	G	16: 95,097,508 (GRCm39)	K377E	probably damaging	Het
Kcnq3	A	G	15: 65,897,073 (GRCm39)	S276P	probably damaging	Het
Klhl26	T	C	8: 70,904,968 (GRCm39)	D280G	probably damaging	Het
Lmnb2	C	T	10: 80,739,791 (GRCm39)	V376I	probably benign	Het
Lrrc37	T	C	11: 103,504,699 (GRCm39)	Q2423R	probably benign	Het
Mepce	T	A	5: 137,784,889 (GRCm39)	R29S	probably benign	Het
Mlh3	A	G	12: 85,292,535 (GRCm39)		probably null	Het
Mlip	T	A	9: 77,150,958 (GRCm39)	T33S	probably damaging	Het
Msantd5f6	T	A	4: 73,321,754 (GRCm39)	M94L	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ncapg2	T	C	12: 116,390,257 (GRCm39)	I402T	probably damaging	Het
Or2aj6	C	G	16: 19,443,241 (GRCm39)	G203A	probably benign	Het
Or5m13b	T	C	2: 85,754,058 (GRCm39)	Y149H	probably damaging	Het
Pcsk5	T	C	19: 17,439,215 (GRCm39)	D1301G	probably benign	Het
Pilrb1	T	C	5: 137,853,165 (GRCm39)	M213V	probably benign	Het
Plxdc1	T	C	11: 97,846,931 (GRCm39)	T163A	possibly damaging	Het
Pnpla2	T	C	7: 141,039,406 (GRCm39)	L373P	probably damaging	Het
Prickle2	A	G	6: 92,402,665 (GRCm39)	Y52H	probably damaging	Het
Rnf220	A	G	4: 117,129,548 (GRCm39)	C294R	probably damaging	Het
Slc12a1	A	G	2: 125,059,809 (GRCm39)	D903G	probably damaging	Het
Slc34a1	T	C	13: 24,003,034 (GRCm39)	F228S	probably damaging	Het
Sptbn1	T	C	11: 30,087,364 (GRCm39)	E1025G	possibly damaging	Het
Sult1c2	T	G	17: 54,271,758 (GRCm39)	D143A	probably damaging	Het
Taar1	T	G	10: 23,796,443 (GRCm39)	I47R	probably damaging	Het
Tg	T	C	15: 66,549,904 (GRCm39)	F222S	probably damaging	Het
Tmem236	C	A	2: 14,223,871 (GRCm39)	T220K	possibly damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Vmn1r237	T	C	17: 21,534,942 (GRCm39)	F222L	probably benign	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Zfp85	T	C	13: 67,899,803 (GRCm39)	Y52C	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
R5620:Tctn3	UTSW	19	40,597,361 (GRCm39)	nonsense	probably null
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'- TCTGTGGTCAGACTACTAATAGGG -3'
(R):5'- AGCAGAAACGCTGGCAACTG -3'

Sequencing Primer
(F):5'- GGTCAGACTACTAATAGGGTTGTTAC -3'
(R):5'- TGGCAACTGAGCGCATG -3'

Posted On

2016-08-04